#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
EIF3B	8662	genome.wustl.edu	37	7	2420028	2420028	+	3'UTR	SNP	G	G	A	rs377583925		TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr7:2420028G>A	ENST00000360876.4	+	0	2705				EIF3B_ENST00000397011.2_3'UTR	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CTGCCATTGCGACACATTTTT	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17317	0.0		0.0	False		,,,				2504	0.0															0			7						G	,	2,1750		0,2,874	45.0	44.0	44.0		,	0.3	0.0	7		44	0,3982		0,0,1991	no	utr-3,utr-3	EIF3B	NM_001037283.1,NM_003751.3	,	0,2,2865	AA,AG,GG		0.0,0.1142,0.0349	,	,	2420028	2,5732	876	1991	2867	2386554	SO:0001624	3_prime_UTR_variant	8662			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.*204G>A	7.37:g.2420028G>A			2386554		Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_eIF2A	p.R857Q	ENST00000360876.4	37	c.2570	CCDS5332.1	7	.	.	.	.	.	.	.	.	.	.	G	9.339	1.062616	0.19987	0.001142	0.0	ENSG00000106263	ENST00000314800	.	.	.	4.51	0.285	0.15705	.	.	.	.	.	T	0.61337	0.2339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59364	-0.7468	5	0.87932	D	0	0.0269	6.8282	0.23895	0.1406:0.3201:0.5393:0.0	.	.	.	.	Q	857	.	ENSP00000316638:R857Q	R	+	2	0	EIF3B	2386554	1.000000	0.71417	0.043000	0.18650	0.778000	0.44026	1.245000	0.32790	-0.177000	0.10690	-0.459000	0.05422	CGA	-	NULL		0.587	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3S9	protein_coding	OTTHUMT00000207006.1	G			2386554	+1	no_errors	ENST00000314800	ensembl	human	known	54_36p	missense	SNP	0.613	A
CREBBP	1387	genome.wustl.edu	37	16	3843433	3843433	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr16:3843433G>C	ENST00000262367.5	-	4	1979	c.1170C>G	c.(1168-1170)aaC>aaG	p.N390K	CREBBP_ENST00000382070.3_Missense_Mutation_p.N390K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	390	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GATTCAAAACGTTTTTCATGG	0.493			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16											150.0	135.0	140.0					16																	3843433		2197	4300	6497	3783434	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1170C>G	16.37:g.3843433G>C	ENSP00000262367:p.Asn390Lys		3783434	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	superfamily_TAZ_finger,HMMPfam_zf-TAZ,HMMSmart_ZnF_TAZ,HMMPfam_KIX,superfamily_KIX,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,HMMPfam_DUF902,HMMPfam_DUF906,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_Creb_binding,superfamily_Nuc_recept_coact	p.N390K	ENST00000262367.5	37	c.1170	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349130	0.61183	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.81330	-1.48;-1.48	5.91	-8.11	0.01082	Zinc finger, TAZ-type (5);	0.138436	0.49305	D	0.000159	D	0.84428	0.5470	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.997	D	0.85022	0.0912	10	0.38643	T	0.18	-19.8187	22.2774	0.99969	0.2699:0.0:0.7301:0.0	.	458;390	Q4LE28;Q92793	.;CBP_HUMAN	K	390;458;390	ENSP00000262367:N390K;ENSP00000371502:N390K	ENSP00000262367:N390K	N	-	3	2	CREBBP	3783434	0.215000	0.23574	0.651000	0.29564	0.995000	0.86356	-0.212000	0.09319	-1.770000	0.01295	-0.136000	0.14681	AAC	-	superfamily_TAZ_finger,HMMPfam_zf-TAZ,HMMSmart_ZnF_TAZ		0.493	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3783434	-1	no_errors	NM_004380	genbank	human	reviewed	54_36p	missense	SNP	0.990	C
PTPRS	5802	genome.wustl.edu	37	19	5286106	5286106	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr19:5286106T>C	ENST00000587303.1	-	1	145	c.46A>G	c.(46-48)Atg>Gtg	p.M16V	PTPRS_ENST00000353284.2_Missense_Mutation_p.M16V|PTPRS_ENST00000590509.1_Missense_Mutation_p.M16V|PTPRS_ENST00000588012.1_Missense_Mutation_p.M16V|PTPRS_ENST00000372412.4_Missense_Mutation_p.M16V|PTPRS_ENST00000357368.4_Missense_Mutation_p.M16V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.M16V|PTPRS_ENST00000592099.1_Missense_Mutation_p.M16V|PTPRS_ENST00000348075.2_Missense_Mutation_p.M16V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	16					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AGGAGGCCCATGGGACCAACC	0.652																																																0			19											52.0	47.0	48.0					19																	5286106		2203	4299	6502	5237106	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.46A>G	19.37:g.5286106T>C	ENSP00000467537:p.Met16Val		5237106	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.M16V	ENST00000587303.1	37	c.46	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	T	2.522	-0.310480	0.05458	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.52754	0.81;0.81;0.77;0.65;0.73	4.01	-7.15	0.01521	.	0.752267	0.10735	N	0.640094	T	0.15046	0.0363	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.13335	-1.0513	10	0.28530	T	0.3	.	1.8911	0.03248	0.1305:0.1873:0.3878:0.2944	.	16;16;16;16;16;16;42	F8W800;Q8NHS7;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;.;PTPRS_HUMAN;.	V	42;16;16;16;16;16;16;16;16;16	ENSP00000361489:M16V;ENSP00000349932:M16V;ENSP00000262963:M16V;ENSP00000269907:M16V;ENSP00000327313:M16V	ENSP00000262963:M16V	M	-	1	0	PTPRS	5237106	0.001000	0.12720	0.204000	0.23530	0.362000	0.29581	-3.305000	0.00519	-0.629000	0.05575	0.260000	0.18958	ATG	-	NULL		0.652	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	protein_coding	OTTHUMT00000450762.2	T			5237106	-1	no_errors	NM_002850	genbank	human	reviewed	54_36p	missense	SNP	0.159	C
TP53	7157	genome.wustl.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654|rs587780066	byFrequency	TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L	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	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; 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.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)	GAAGCCCAGACGGAAACCGTA	0.612		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	17	GRCh37	CM984590	TP53	M	rs11540654						63.0	60.0	61.0					17																	7579358		2203	4300	6503	7520083	SO:0001583	missense	7157	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.329G>T	17.37:g.7579358C>A	ENSP00000269305:p.Arg110Leu		7520083	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	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R110L	ENST00000269305.4	37	c.329	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7520083	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	0.018	A
DENND5A	23258	genome.wustl.edu	37	11	9199765	9199765	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr11:9199765C>T	ENST00000328194.3	-	8	2140	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q	DENND5A_ENST00000526523.1_5'UTR|DENND5A_ENST00000530044.1_Missense_Mutation_p.R607Q	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	607					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTGTCAACTCGGGAATCAAA	0.448																																																0			11											216.0	204.0	208.0					11																	9199765		2201	4296	6497	9156341	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1820G>A	11.37:g.9199765C>T	ENSP00000328524:p.Arg607Gln		9156341	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_RUN,HMMSmart_SM00593,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT	p.R607Q	ENST00000328194.3	37	c.1820	CCDS31423.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.306428	0.95629	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.05447	3.44;3.44	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.01001	-1.1485	10	0.66056	D	0.02	.	19.3465	0.94365	0.0:1.0:0.0:0.0	.	607;607	E9PS91;Q6IQ26	.;DEN5A_HUMAN	Q	607	ENSP00000328524:R607Q;ENSP00000435866:R607Q	ENSP00000328524:R607Q	R	-	2	0	DENND5A	9156341	1.000000	0.71417	0.991000	0.47740	0.738000	0.42128	7.805000	0.86005	2.647000	0.89833	0.561000	0.74099	CGA	-	NULL		0.448	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	protein_coding	OTTHUMT00000385910.2	C	NM_015213		9156341	-1	no_errors	NM_015213	genbank	human	validated	54_36p	missense	SNP	1.000	T
PRAMEF1	65121	genome.wustl.edu	37	1	12856112	12856112	+	Silent	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr1:12856112G>A	ENST00000332296.7	+	4	1495	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	PRAMEF1_ENST00000400814.3_Silent_p.P219P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	464					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCATCACCGTCTGAGGAAC	0.557																																																0			1																																								12778699	SO:0001819	synonymous_variant	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1392G>A	1.37:g.12856112G>A			12778699	Q9UQP2	Silent	SNP	superfamily_SSF52047	p.P464	ENST00000332296.7	37	c.1392	CCDS148.1	1																																																																																			-	NULL		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	protein_coding	OTTHUMT00000005458.1	G	NM_023013		12778699	+1	no_errors	NM_023013	genbank	human	provisional	54_36p	silent	SNP	0.000	A
PRAMEF2	65122	genome.wustl.edu	37	1	12921601	12921601	+	Silent	SNP	G	G	A	rs534677823		TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr1:12921601G>A	ENST00000240189.2	+	4	1479	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	464					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCATCACCGTCTGAGGAAC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		23087	0.001		0.0	False		,,,				2504	0.0															0			1											23.0	27.0	26.0					1																	12921601		2008	4139	6147	12844188	SO:0001819	synonymous_variant	65122				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1392G>A	1.37:g.12921601G>A			12844188		Silent	SNP	superfamily_SSF52047	p.P464	ENST00000240189.2	37	c.1392	CCDS149.1	1																																																																																			-	NULL		0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	protein_coding	OTTHUMT00000005517.1	G	NM_023014		12844188	+1	no_errors	NM_023014	genbank	human	provisional	54_36p	silent	SNP	0.000	A
TRDMT1	1787	genome.wustl.edu	37	10	17201171	17201171	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr10:17201171G>A	ENST00000377799.3	-	7	564	c.517C>T	c.(517-519)Cca>Tca	p.P173S	TRDMT1_ENST00000457442.2_Missense_Mutation_p.P92S|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_Missense_Mutation_p.A101V|TRDMT1_ENST00000412821.3_Missense_Mutation_p.P149S|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000351358.4_Missense_Mutation_p.P127S|TRDMT1_ENST00000358282.7_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	173	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	AAGGGTAATGGCTCTGACTGA	0.303																																																0			10											66.0	70.0	69.0					10																	17201171		2203	4300	6503	17241177	SO:0001583	missense	1787			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.517C>T	10.37:g.17201171G>A	ENSP00000367030:p.Pro173Ser		17241177	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_2	p.P173S	ENST00000377799.3	37	c.517	CCDS7114.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.74|10.74	1.435858|1.435858	0.25813|0.25813	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000377766;ENST00000313936|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000525762	.|D;D;D;D;D	.|0.84146	.|-1.81;-1.81;-1.81;-1.81;-1.81	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.147132	.|0.64402	.|D	.|0.000011	T|T	0.80737|0.80737	0.4680|0.4680	L|L	0.37507|0.37507	1.11|1.11	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.24618	.|0.002;0.063;0.003;0.107;0.003;0.003	.|B;B;B;B;B;B	.|0.26310	.|0.005;0.068;0.002;0.023;0.001;0.002	T|T	0.74668|0.74668	-0.3588|-0.3588	5|10	.|0.19147	.|T	.|0.46	-5.3297|-5.3297	19.4133|19.4133	0.94685|0.94685	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|102;92;173;127;149;173	.|B7Z1Y7;E7EMI8;Q6ICS7;O14717-3;O14717-2;O14717	.|.;.;.;.;.;TRDMT_HUMAN	V|S	101;106|173;149;127;92;131	.|ENSP00000367030:P173S;ENSP00000409354:P149S;ENSP00000324328:P127S;ENSP00000412256:P92S;ENSP00000431476:P131S	.|ENSP00000324328:P127S	A|P	-|-	2|1	0|0	TRDMT1|TRDMT1	17241177|17241177	0.995000|0.995000	0.38212|0.38212	0.939000|0.939000	0.37840|0.37840	0.214000|0.214000	0.24535|0.24535	2.414000|2.414000	0.44627|0.44627	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCC|CCA	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.303	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRDMT1	protein_coding	OTTHUMT00000047024.3	G	NM_004412		17241177	-1	no_errors	NM_004412	genbank	human	reviewed	54_36p	missense	SNP	0.779	A
LAMA3	3909	genome.wustl.edu	37	18	21529729	21529729	+	Splice_Site	SNP	A	A	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr18:21529729A>G	ENST00000313654.9	+	71	9593	c.9352A>G	c.(9352-9354)Agc>Ggc	p.S3118G	LAMA3_ENST00000587184.1_Splice_Site_p.S1453G|LAMA3_ENST00000269217.6_Splice_Site_p.S1509G|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Splice_Site_p.S3062G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3118	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTGGTTGCAGAGCCTCCCCAC	0.502																																																0			18											65.0	65.0	65.0					18																	21529729		2203	4300	6503	19783727	SO:0001630	splice_region_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9352-1A>G	18.37:g.21529729A>G			19783727	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMSmart_SM00281,HMMPfam_Laminin_B,PatternScan_EGF_2,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_CHAPERONINS_CPN60	p.S3118G	ENST00000313654.9	37	c.9352	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	A	9.876	1.200272	0.22121	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.79247	-1.25;-1.25;-1.25	5.55	-2.32	0.06745	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.56949	0.2020	L	0.35593	1.075	0.35340	D	0.786405	B;B;B;B	0.11235	0.0;0.0;0.002;0.004	B;B;B;B	0.13407	0.005;0.006;0.006;0.009	T	0.47649	-0.9101	8	.	.	.	.	0.447	0.00495	0.3694:0.2439:0.1516:0.2352	.	1453;1509;3062;3118	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	G	3118;3062;1509	ENSP00000324532:S3118G;ENSP00000382432:S3062G;ENSP00000269217:S1509G	.	S	+	1	0	LAMA3	19783727	0.139000	0.22563	0.919000	0.36401	0.220000	0.24768	0.667000	0.25112	0.043000	0.15746	0.533000	0.62120	AGC	-	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2		0.502	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	A	NM_000227, NM_198129	Missense_Mutation	19783727	+1	no_errors	NM_198129	genbank	human	reviewed	54_36p	missense	SNP	0.989	G
HTATIP2	10553	genome.wustl.edu	37	11	20385802	20385802	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr11:20385802C>A	ENST00000451739.2	+	1	460	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	HTATIP2_ENST00000443524.2_Missense_Mutation_p.L7M|HTATIP2_ENST00000421577.2_Missense_Mutation_p.L7M|HTATIP2_ENST00000532505.1_Missense_Mutation_p.L7M|HTATIP2_ENST00000531058.1_Missense_Mutation_p.L7M|HTATIP2_ENST00000532081.1_Missense_Mutation_p.L7M|HTATIP2_ENST00000419348.2_Missense_Mutation_p.L41M|HTATIP2_ENST00000530266.1_Missense_Mutation_p.L7M	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AACAGAAGCCCTGTCGAAGCT	0.522																																																0			11											92.0	97.0	95.0					11																	20385802		2203	4300	6503	20342378	SO:0001583	missense	10553			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.19C>A	11.37:g.20385802C>A	ENSP00000394259:p.Leu7Met		20342378		Missense_Mutation	SNP	superfamily_NAD(P)-binding Rossmann-fold domains	p.L41M	ENST00000451739.2	37	c.121	CCDS7852.1	11	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641950	0.47153	.	.	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	T;T;T;T;T	0.57107	0.71;0.71;0.42;0.71;0.7	6.02	4.05	0.47172	.	0.259478	0.42548	D	0.000684	T	0.34077	0.0885	N	0.22421	0.69	0.39078	D	0.960849	B;P;B	0.34462	0.032;0.454;0.024	B;B;B	0.30572	0.003;0.117;0.01	T	0.28202	-1.0051	10	0.39692	T	0.17	-17.6249	8.8082	0.34952	0.1502:0.7712:0.0:0.0787	.	7;7;41	Q9BUP3;Q9BUP3-2;Q9BUP3-3	HTAI2_HUMAN;.;.	M	7;7;7;41;7;7;7;7	ENSP00000397752:L7M;ENSP00000387876:L7M;ENSP00000392985:L41M;ENSP00000394259:L7M;ENSP00000436729:L7M	ENSP00000392985:L41M	L	+	1	2	HTATIP2	20342378	0.728000	0.28080	0.355000	0.25773	0.465000	0.32709	1.259000	0.32956	1.551000	0.49450	0.655000	0.94253	CTG	-	NULL		0.522	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATIP2	protein_coding	OTTHUMT00000387445.2	C	NM_001098521		20342378	+1	no_errors	NM_001098520	genbank	human	validated	54_36p	missense	SNP	0.513	A
CDRT15L2	256223	genome.wustl.edu	37	17	20483229	20483229	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr17:20483229G>A	ENST00000399044.1	+	1	193	c.173G>A	c.(172-174)gGc>gAc	p.G58D	RP11-434D2.12_ENST00000580931.1_lincRNA	NM_001190790.1	NP_001177719.1	A8MXV6	CD15L_HUMAN	CMT1A duplicated region transcript 15-like 2	58						integral component of membrane (GO:0016021)				central_nervous_system(1)	1						GCCCTAGCTGGCCAGGCCACA	0.627																																																0			17																																								20423821	SO:0001583	missense	256223				CCDS54096.1	17p11.2	2008-10-30			ENSG00000214819	ENSG00000214819			34075	protein-coding gene	gene with protein product							Standard	NM_001190790		Approved		uc021tsn.1	A8MXV6	OTTHUMG00000059557	ENST00000399044.1:c.173G>A	17.37:g.20483229G>A	ENSP00000382000:p.Gly58Asp		20423821		Nonsense_Mutation	SNP	NULL	p.W33*	ENST00000399044.1	37	c.99	CCDS54096.1	17	.	.	.	.	.	.	.	.	.	.	.	10.53	1.376960	0.24857	.	.	ENSG00000214819	ENST00000399044	T	0.60548	0.18	0.685	0.685	0.18009	.	.	.	.	.	T	0.32010	0.0815	N	0.04297	-0.235	0.09310	N	1	.	.	.	.	.	.	T	0.26608	-1.0098	7	0.62326	D	0.03	.	4.8167	0.13371	0.0:0.0:1.0:0.0	.	.	.	.	D	58	ENSP00000382000:G58D	ENSP00000382000:G58D	G	+	2	0	CDRT15L2	20423821	0.007000	0.16637	0.006000	0.13384	0.014000	0.08584	0.243000	0.18106	0.698000	0.31739	0.134000	0.15878	GGC	-	NULL		0.627	CDRT15L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC256223	protein_coding	OTTHUMT00000132432.3	G	XM_170840		20423821	+1	no_errors	XM_170840	genbank	human	model	54_36p	nonsense	SNP	0.000	A
HIST1H2AD	3013	genome.wustl.edu	37	6	26199361	26199361	+	Silent	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr6:26199361C>T	ENST00000341023.1	-	1	110	c.111G>A	c.(109-111)aaG>aaA	p.K37K	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	37						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				AGTAGTTGCCCTTGCGGAGCA	0.687																																																0			6											27.0	32.0	30.0					6																	26199361		2203	4300	6503	26307340	SO:0001819	synonymous_variant	3013			Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.111G>A	6.37:g.26199361C>T			26307340	A0PK91|P57754|Q6FGY6	Silent	SNP	superfamily_Histone-fold,HMMSmart_H2A,HMMPfam_Histone,PatternScan_HISTONE_H2A	p.K37	ENST00000341023.1	37	c.111	CCDS4591.1	6																																																																																			-	superfamily_Histone-fold,HMMSmart_H2A,HMMPfam_Histone		0.687	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AD	protein_coding	OTTHUMT00000040100.1	C	NM_021065		26307340	-1	no_errors	NM_021065	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
TIAM1	7074	genome.wustl.edu	37	21	32617941	32617941	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr21:32617941A>C	ENST00000286827.3	-	7	1918	c.1447T>G	c.(1447-1449)Tct>Gct	p.S483A	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S483A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	483	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTATCCCAGACCTGCCGTCG	0.527																																																0			21											76.0	67.0	70.0					21																	32617941		2203	4300	6503	31539812	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1447T>G	21.37:g.32617941A>C	ENSP00000286827:p.Ser483Ala		31539812	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_RBD,HMMSmart_RBD,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1	p.S483A	ENST00000286827.3	37	c.1447	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	A	20.0	3.929855	0.73327	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.28895	1.59;1.59	5.22	4.08	0.47627	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	N	0.08118	0	0.45914	D	0.998753	P;P;P;P	0.44309	0.799;0.771;0.832;0.832	D;P;D;D	0.66979	0.913;0.837;0.948;0.948	T	0.30031	-0.9992	10	0.54805	T	0.06	.	11.0343	0.47791	0.9273:0.0:0.0727:0.0	.	483;483;324;483	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	A	483;324;483	ENSP00000286827:S483A;ENSP00000441570:S483A	ENSP00000286827:S483A	S	-	1	0	TIAM1	31539812	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.109000	0.77062	1.011000	0.39340	0.528000	0.53228	TCT	-	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	protein_coding	OTTHUMT00000192552.1	A	NM_003253		31539812	-1	no_errors	NM_003253	genbank	human	validated	54_36p	missense	SNP	1.000	C
SOGA1	140710	genome.wustl.edu	37	20	35434278	35434278	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr20:35434278C>G	ENST00000357779.3	-	9	2509	c.2183G>C	c.(2182-2184)gGg>gCg	p.G728A	SOGA1_ENST00000456801.2_Missense_Mutation_p.G569A|SOGA1_ENST00000279034.6_Missense_Mutation_p.G728A|SOGA1_ENST00000237536.4_Missense_Mutation_p.G966A			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	728					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCAGCTGTCCCCCGTGCAGGC	0.483																																																0			20											94.0	96.0	95.0					20																	35434278		1963	4144	6107	34867692	SO:0001583	missense	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2183G>C	20.37:g.35434278C>G	ENSP00000350424:p.Gly728Ala		34867692	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	NULL	p.G728A	ENST00000357779.3	37	c.2183		20	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820660	0.50633	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.18338	2.22;2.22;2.24;2.23	5.27	5.27	0.74061	.	0.183555	0.49305	D	0.000148	T	0.12347	0.0300	L	0.36672	1.1	0.38233	D	0.941091	P	0.39352	0.669	B	0.30943	0.122	T	0.12319	-1.0552	10	0.09084	T	0.74	-63.5812	17.8314	0.88684	0.0:1.0:0.0:0.0	.	728	O94964-4	.	A	966;728;569;728	ENSP00000237536:G966A;ENSP00000279034:G728A;ENSP00000413886:G569A;ENSP00000350424:G728A	ENSP00000237536:G966A	G	-	2	0	KIAA0889	34867692	0.996000	0.38824	0.998000	0.56505	0.981000	0.71138	2.884000	0.48562	2.746000	0.94184	0.563000	0.77884	GGG	-	NULL		0.483	SOGA1-201	KNOWN	basic	protein_coding	C20orf117	protein_coding		C	NM_199181		34867692	-1	no_errors	NM_199181	genbank	human	predicted	54_36p	missense	SNP	0.972	G
FGD2	221472	genome.wustl.edu	37	6	36979622	36979622	+	Silent	SNP	G	G	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr6:36979622G>C	ENST00000274963.8	+	4	690	c.519G>C	c.(517-519)ctG>ctC	p.L173L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	173	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCGGCGCCTGGACGACTGGT	0.617																																																0			6											82.0	63.0	69.0					6																	36979622		2203	4300	6503	37087600	SO:0001819	synonymous_variant	221472			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.519G>C	6.37:g.36979622G>C			37087600	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger	p.L173	ENST00000274963.8	37	c.519	CCDS4829.1	6																																																																																			-	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325		0.617	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	protein_coding	OTTHUMT00000040398.2	G	NM_173558		37087600	+1	no_errors	NM_173558	genbank	human	validated	54_36p	silent	SNP	1.000	C
LRFN2	57497	genome.wustl.edu	37	6	40400040	40400040	+	Silent	SNP	G	G	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr6:40400040G>T	ENST00000338305.6	-	2	1355	c.813C>A	c.(811-813)ctC>ctA	p.L271L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	271	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGACCCTTGAGGCCCCCTG	0.602																																																0			6											39.0	41.0	40.0					6																	40400040		2203	4300	6503	40508018	SO:0001819	synonymous_variant	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.813C>A	6.37:g.40400040G>T			40508018	A5PKU3|Q5SYP9	Silent	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III	p.L271	ENST00000338305.6	37	c.813	CCDS34443.1	6																																																																																			-	superfamily_L domain-like,HMMSmart_SM00082		0.602	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	protein_coding	OTTHUMT00000040488.1	G	XM_166372		40508018	-1	no_errors	NM_020737	genbank	human	provisional	54_36p	silent	SNP	0.995	T
ZBTB21	49854	genome.wustl.edu	37	21	43411454	43411454	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr21:43411454C>T	ENST00000310826.5	-	3	2934	c.2751G>A	c.(2749-2751)atG>atA	p.M917I	ZBTB21_ENST00000398511.3_Missense_Mutation_p.M917I|ZBTB21_ENST00000398499.1_Missense_Mutation_p.M917I|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Missense_Mutation_p.M716I	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	917					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GCACCGTGAACATCTTCCCAC	0.537																																																0			21											76.0	73.0	74.0					21																	43411454		2203	4300	6503	42284523	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2751G>A	21.37:g.43411454C>T	ENSP00000308759:p.Met917Ile		42284523	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.M917I	ENST00000310826.5	37	c.2751	CCDS13678.1	21	.	.	.	.	.	.	.	.	.	.	C	9.391	1.075493	0.20227	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.87	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.301230	0.31834	N	0.006992	T	0.20780	0.0500	N	0.05383	-0.06	0.27015	N	0.964595	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.15206	-1.0445	10	0.17832	T	0.49	-6.3036	4.7989	0.13287	0.2219:0.3473:0.3589:0.0719	.	716;917	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	I	716;917;917;917	ENSP00000381517:M716I;ENSP00000308759:M917I;ENSP00000381512:M917I;ENSP00000381523:M917I	ENSP00000308759:M917I	M	-	3	0	ZNF295	42284523	0.733000	0.28132	0.411000	0.26484	0.966000	0.64601	-0.130000	0.10498	0.036000	0.15547	0.655000	0.94253	ATG	-	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2		0.537	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	protein_coding	OTTHUMT00000195308.1	C	NM_020727		42284523	-1	no_errors	NM_001098402	genbank	human	validated	54_36p	missense	SNP	0.986	T
LRPPRC	10128	genome.wustl.edu	37	2	44175275	44175275	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:44175275G>C	ENST00000260665.7	-	18	1963	c.1906C>G	c.(1906-1908)Cct>Gct	p.P636A		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	636					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATCAATTCAGGAACATGGTAG	0.343																																																0			2											91.0	96.0	94.0					2																	44175275		2202	4300	6502	44028779	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1906C>G	2.37:g.44175275G>C	ENSP00000260665:p.Pro636Ala		44028779	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	superfamily_SSF48452,HMMPfam_PPR	p.P636A	ENST00000260665.7	37	c.1906	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510977	0.64522	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.58652	0.32	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.76534	-0.2924	10	0.39692	T	0.17	-9.5699	19.9929	0.97374	0.0:0.0:1.0:0.0	.	536;636	F5H4J6;P42704	.;LPPRC_HUMAN	A	536;636	ENSP00000260665:P636A	ENSP00000260665:P636A	P	-	1	0	LRPPRC	44028779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.167000	0.94773	2.794000	0.96219	0.655000	0.94253	CCT	-	NULL		0.343	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	protein_coding	OTTHUMT00000327823.1	G	NM_133259		44028779	-1	no_errors	NM_133259	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ADARB1	104	genome.wustl.edu	37	21	46596483	46596483	+	Silent	SNP	G	G	A	rs557891335		TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr21:46596483G>A	ENST00000360697.3	+	2	882	c.867G>A	c.(865-867)gcG>gcA	p.A289A	ADARB1_ENST00000539173.1_Silent_p.A289A|ADARB1_ENST00000389863.4_Silent_p.A289A|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Silent_p.A289A			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	289	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CCCGGGCTGCGCAGTCTGCCC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16569	0.0		0.0	False		,,,				2504	0.0															0			21											48.0	52.0	50.0					21																	46596483		2203	4300	6503	45420911	SO:0001819	synonymous_variant	104			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.867G>A	21.37:g.46596483G>A			45420911	A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00552,HMMPfam_A_deamin,superfamily_Cytokine	p.A289	ENST00000360697.3	37	c.867	CCDS33589.1	21																																																																																			-	superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358		0.567	ADARB1-004	KNOWN	basic|CCDS	protein_coding	ADARB1	protein_coding	OTTHUMT00000206648.2	G	NM_015833		45420911	+1	no_errors	NM_015833	genbank	human	reviewed	54_36p	silent	SNP	0.307	A
TUBGCP6	85378	genome.wustl.edu	37	22	50663006	50663006	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr22:50663006T>C	ENST00000248846.5	-	11	2103	c.1999A>G	c.(1999-2001)Att>Gtt	p.I667V	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.I667V|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	667					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGTTTTGCAATTTCCATACGT	0.542																																																0			22											84.0	87.0	86.0					22																	50663006		2203	4300	6503	49005133	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1999A>G	22.37:g.50663006T>C	ENSP00000248846:p.Ile667Val		49005133	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	HMMPfam_Spc97_Spc98	p.I667V	ENST00000248846.5	37	c.1999	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	T	18.22	3.574720	0.65878	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.13089	2.98;2.62	4.97	3.94	0.45596	.	0.655088	0.16051	N	0.231989	T	0.19725	0.0474	L	0.58101	1.795	0.32982	D	0.523803	P;P	0.48503	0.911;0.911	P;P	0.49853	0.618;0.624	T	0.10823	-1.0613	10	0.21540	T	0.41	.	10.0236	0.42057	0.0:0.0799:0.0:0.9201	.	667;667	B2RWN4;Q96RT7	.;GCP6_HUMAN	V	667	ENSP00000248846:I667V;ENSP00000397387:I667V	ENSP00000248846:I667V	I	-	1	0	TUBGCP6	49005133	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.684000	0.54671	1.866000	0.54105	0.459000	0.35465	ATT	-	HMMPfam_Spc97_Spc98		0.542	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	protein_coding	OTTHUMT00000075004.3	T	NM_020461		49005133	-1	no_errors	NM_020461	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PPP1R3F	89801	genome.wustl.edu	37	X	49143120	49143120	+	Silent	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chrX:49143120T>C	ENST00000055335.6	+	4	1984	c.1968T>C	c.(1966-1968)aaT>aaC	p.N656N	PPP1R3F_ENST00000376188.1_Silent_p.N310N|PPP1R3F_ENST00000438316.1_Silent_p.N327N|PPP1R3F_ENST00000466508.1_Silent_p.N310N|PPP1R3F_ENST00000495799.1_Silent_p.N310N	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	656					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TGCACATGAATAGGGTGATAG	0.577																																																0			X											51.0	39.0	43.0					X																	49143120		2203	4300	6503	49030064	SO:0001819	synonymous_variant	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1968T>C	X.37:g.49143120T>C			49030064	A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	HMMPfam_CBM_21	p.N656	ENST00000055335.6	37	c.1968	CCDS35254.1	X																																																																																			-	NULL		0.577	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	protein_coding	OTTHUMT00000060819.2	T	NM_033215		49030064	+1	no_errors	NM_033215	genbank	human	validated	54_36p	silent	SNP	0.004	C
ZNF283	284349	genome.wustl.edu	37	19	44352484	44352484	+	Silent	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr19:44352484G>A	ENST00000324461.7	+	7	2028	c.1731G>A	c.(1729-1731)ggG>ggA	p.G577G	ZNF283_ENST00000588797.1_Silent_p.G438G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AGGAATGTGGGAAGGCCTTCA	0.418																																																0			19											77.0	85.0	83.0					19																	44352484		2184	4292	6476	49044324	SO:0001819	synonymous_variant	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1731G>A	19.37:g.44352484G>A			49044324	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Silent	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.G577	ENST00000324461.7	37	c.1731	CCDS46097.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.418	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	protein_coding	OTTHUMT00000459909.1	G	NM_181845		49044324	+1	no_errors	NM_181845	genbank	human	validated	54_36p	silent	SNP	1.000	A
GLDN	342035	genome.wustl.edu	37	15	51676064	51676064	+	Silent	SNP	A	A	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr15:51676064A>G	ENST00000335449.6	+	4	572	c.516A>G	c.(514-516)ggA>ggG	p.G172G	GLDN_ENST00000396399.2_Silent_p.G48G	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	172	Collagen-like 1.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GAGAAAAAGGAGCAAATGGAA	0.458																																																0			15											45.0	45.0	45.0					15																	51676064		2196	4293	6489	49463356	SO:0001819	synonymous_variant	342035			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.516A>G	15.37:g.51676064A>G			49463356	Q6UXZ7|Q7Z359	Silent	SNP	HMMPfam_Collagen,HMMPfam_OLF,HMMSmart_SM00284	p.G172	ENST00000335449.6	37	c.516	CCDS10140.2	15																																																																																			-	HMMPfam_Collagen		0.458	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	protein_coding	OTTHUMT00000254667.2	A	NM_181789		49463356	+1	no_errors	NM_181789	genbank	human	validated	54_36p	silent	SNP	0.997	G
SALL1	6299	genome.wustl.edu	37	16	51173449	51173449	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr16:51173449C>A	ENST00000251020.4	-	2	2717	c.2684G>T	c.(2683-2685)gGg>gTg	p.G895V	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.G798V|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	895					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGGACATCCCCCTCGATGGA	0.537																																					GBM(103;1352 1446 1855 4775 8890)											0			16											96.0	76.0	83.0					16																	51173449		2198	4300	6498	49730950	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2684G>T	16.37:g.51173449C>A	ENSP00000251020:p.Gly895Val		49730950	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers	p.G895V	ENST00000251020.4	37	c.2684	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513153	0.27123	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.78481	-1.18;-1.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84869	0.0824	10	0.36615	T	0.2	.	19.3939	0.94598	0.0:1.0:0.0:0.0	.	895	Q9NSC2	SALL1_HUMAN	V	895;798;859	ENSP00000251020:G895V;ENSP00000407914:G798V	ENSP00000251020:G895V	G	-	2	0	SALL1	49730950	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.787000	0.62432	2.579000	0.87056	0.557000	0.71058	GGG	-	NULL		0.537	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	protein_coding	OTTHUMT00000256883.2	C	NM_002968		49730950	-1	no_errors	NM_002968	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SULT2B1	6820	genome.wustl.edu	37	19	49079174	49079174	+	Intron	SNP	G	G	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr19:49079174G>T	ENST00000201586.2	+	2	249				SULT2B1_ENST00000323090.4_Start_Codon_SNP_p.M1I	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		tctcCCTCATGGCGTCTCCCC	0.602																																																0			19											108.0	86.0	93.0					19																	49079174		2203	4300	6503	53770986	SO:0001627	intron_variant	6820			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.72-24G>T	19.37:g.49079174G>T			53770986	O00205|O75814	Missense_Mutation	SNP	superfamily_SSF52540,HMMPfam_Sulfotransfer_1	p.M1I	ENST00000201586.2	37	c.3	CCDS12723.1	19	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790571	0.31685	.	.	ENSG00000088002	ENST00000323090	T	0.01313	5.02	3.66	-4.81	0.03180	.	.	.	.	.	T	0.01189	0.0039	.	.	.	0.80722	D	1	B	0.25169	0.119	B	0.19391	0.025	T	0.48547	-0.9026	8	0.87932	D	0	.	5.328	0.15917	0.2981:0.4815:0.2203:0.0	.	1	O00204-2	.	I	1	ENSP00000312880:M1I	ENSP00000312880:M1I	M	+	3	0	SULT2B1	53770986	0.000000	0.05858	0.001000	0.08648	0.160000	0.22226	-0.670000	0.05256	-0.535000	0.06307	0.491000	0.48974	ATG	-	NULL		0.602	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT2B1	protein_coding	OTTHUMT00000466140.1	G	NM_004605		53770986	+1	no_errors	NM_004605	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
POLR2B	5431	genome.wustl.edu	37	4	57871580	57871580	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr4:57871580T>A	ENST00000381227.1	+	9	1482	c.1069T>A	c.(1069-1071)Tgt>Agt	p.C357S	POLR2B_ENST00000441246.2_Missense_Mutation_p.C350S|RNU6-998P_ENST00000515894.1_RNA|POLR2B_ENST00000431623.2_Missense_Mutation_p.C282S|POLR2B_ENST00000314595.5_Missense_Mutation_p.C357S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	357					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CAGTGATTTTTGTGAGACCAA	0.328																																																0			4											122.0	128.0	126.0					4																	57871580		2203	4300	6503	57566337	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1069T>A	4.37:g.57871580T>A	ENSP00000370625:p.Cys357Ser		57566337	A8K1A8|Q8IZ61	Missense_Mutation	SNP	superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_3,HMMPfam_RNA_pol_Rpb2_4,HMMPfam_RNA_pol_Rpb2_5,HMMPfam_RNA_pol_Rpb2_6,PatternScan_RNA_POL_BETA,HMMPfam_RNA_pol_Rpb2_7	p.C357S	ENST00000381227.1	37	c.1069	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996275	0.54147	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.77	5.77	0.91146	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.039217	0.85682	D	0.000000	T	0.69958	0.3169	L	0.35542	1.07	0.80722	D	1	B;B	0.34349	0.345;0.45	B;B	0.43783	0.431;0.431	T	0.64305	-0.6439	10	0.09338	T	0.73	.	16.3818	0.83467	0.0:0.0:0.0:1.0	.	282;357	C9J4M6;P30876	.;RPB2_HUMAN	S	357;282;350;357	ENSP00000370625:C357S;ENSP00000391096:C282S;ENSP00000391452:C350S;ENSP00000312735:C357S	ENSP00000312735:C357S	C	+	1	0	POLR2B	57566337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.140000	0.71738	2.330000	0.79161	0.528000	0.53228	TGT	-	superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_2		0.328	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	protein_coding	OTTHUMT00000250692.1	T	NM_000938		57566337	+1	no_errors	NM_000938	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SERPINB4	6318	genome.wustl.edu	37	18	61310704	61310704	+	Silent	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr18:61310704T>C	ENST00000341074.5	-	2	223	c.108A>G	c.(106-108)tcA>tcG	p.S36S	SERPINB4_ENST00000356424.6_Silent_p.S36S	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	36					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TCCCTAATGCTGATGTGATGC	0.423																																																0			18											226.0	197.0	207.0					18																	61310704		2203	4298	6501	59461684	SO:0001819	synonymous_variant	6318			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.108A>G	18.37:g.61310704T>C			59461684	A8K847	Silent	SNP	HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN	p.S36	ENST00000341074.5	37	c.108	CCDS11986.1	18	.	.	.	.	.	.	.	.	.	.	T	4.286	0.052173	0.08291	.	.	ENSG00000206073	ENST00000413673	.	.	.	3.83	-4.01	0.04045	.	.	.	.	.	T	0.31575	0.0801	.	.	.	0.32338	N	0.560108	.	.	.	.	.	.	T	0.41106	-0.9527	4	.	.	.	.	3.762	0.08607	0.3862:0.2481:0.0:0.3657	.	.	.	.	R	38	.	.	Q	-	2	0	SERPINB4	59461684	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.709000	0.01890	-0.858000	0.04110	-0.676000	0.03789	CAG	-	HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN		0.423	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB4	protein_coding	OTTHUMT00000133794.2	T	NM_175041		59461684	-1	no_errors	NM_002974	genbank	human	validated	54_36p	silent	SNP	0.659	C
PLEKHM1P	440456	genome.wustl.edu	37	17	62796947	62796947	+	RNA	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr17:62796947C>G	ENST00000582986.1	-	0	973					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										GTGGGGAGAGCTCGCAGAAGA	0.622																																																0			17																																								60227409			0					17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796947C>G			60227409		Missense_Mutation	SNP	superfamily_PH domain-like,HMMSmart_SM00233,HMMSmart_SM00109	p.E31D	ENST00000582986.1	37	c.93		17																																																																																			-	superfamily_PH domain-like,HMMSmart_SM00233		0.622	PLEKHM1P-002	KNOWN	basic	processed_transcript	PLEKHM1P	pseudogene	OTTHUMT00000445598.1	C	NR_024386		60227409	-1	no_errors	ENST00000290422	ensembl	human	known	54_36p	missense	SNP	1.000	G
AHNAK	79026	genome.wustl.edu	37	11	62301283	62301283	+	Silent	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr11:62301283C>G	ENST00000378024.4	-	5	880	c.606G>C	c.(604-606)ggG>ggC	p.G202G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	202					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACGGTCTTCCCAGACTGGG	0.547																																																0			11											106.0	105.0	105.0					11																	62301283		2202	4299	6501	62057859	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.606G>C	11.37:g.62301283C>G			62057859	A1A586	Silent	SNP	superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC	p.G202	ENST00000378024.4	37	c.606	CCDS31584.1	11																																																																																			-	NULL		0.547	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62057859	-1	no_errors	NM_001620	genbank	human	validated	54_36p	silent	SNP	0.932	G
CYP1A1	1543	genome.wustl.edu	37	15	75015380	75015380	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr15:75015380C>A	ENST00000379727.3	-	2	257	c.59G>T	c.(58-60)tGt>tTt	p.C20F	CYP1A1_ENST00000567032.1_Missense_Mutation_p.C20F|CYP1A1_ENST00000395048.2_Missense_Mutation_p.C20F|CYP1A1_ENST00000395049.4_Missense_Mutation_p.C20F|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	20					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GAATACCAGACAGAAGATGAC	0.552									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																							0			15											38.0	38.0	38.0					15																	75015380		2197	4296	6493	72802433	SO:0001583	missense	1543	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.59G>T	15.37:g.75015380C>A	ENSP00000369050:p.Cys20Phe		72802433	A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.C20F	ENST00000379727.3	37	c.59	CCDS10268.1	15	.	.	.	.	.	.	.	.	.	.	C	8.136	0.784121	0.16189	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.71341	-0.56;-0.56;-0.42	5.52	4.55	0.56014	.	0.138081	0.64402	D	0.000002	T	0.59742	0.2216	L	0.32530	0.975	0.50632	D	0.999886	B;B	0.24043	0.096;0.096	B;B	0.27170	0.077;0.077	T	0.61192	-0.7112	10	0.66056	D	0.02	.	10.3429	0.43889	0.2456:0.6291:0.1253:0.0	.	20;20	E7EMT5;P04798	.;CP1A1_HUMAN	F	20	ENSP00000369050:C20F;ENSP00000378488:C20F;ENSP00000378489:C20F	ENSP00000268062:C20F	C	-	2	0	CYP1A1	72802433	1.000000	0.71417	0.996000	0.52242	0.080000	0.17528	2.634000	0.46528	2.598000	0.87819	0.655000	0.94253	TGT	-	NULL		0.552	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A1	protein_coding	OTTHUMT00000286396.1	C	NM_000499		72802433	-1	no_errors	NM_000499	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
EDIL3	10085	genome.wustl.edu	37	5	83239362	83239362	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr5:83239362T>C	ENST00000296591.5	-	11	1737	c.1319A>G	c.(1318-1320)gAc>gGc	p.D440G	EDIL3_ENST00000380138.3_Missense_Mutation_p.D430G	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	440	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCTGTGAGTGTCATTGTCAAA	0.413																																																0			5											125.0	119.0	121.0					5																	83239362		2203	4300	6503	83275118	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1319A>G	5.37:g.83239362T>C	ENSP00000296591:p.Asp440Gly		83275118	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2	p.D440G	ENST00000296591.5	37	c.1319	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940639	0.73557	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98150	-4.75;-4.75	5.69	5.69	0.88448	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.045373	0.85682	D	0.000000	D	0.95560	0.8557	L	0.35288	1.05	0.80722	D	1	B;P	0.36183	0.356;0.542	B;B	0.38755	0.197;0.281	D	0.95382	0.8474	10	0.48119	T	0.1	-28.4128	15.9518	0.79846	0.0:0.0:0.0:1.0	.	430;440	O43854-2;O43854	.;EDIL3_HUMAN	G	440;430	ENSP00000296591:D440G;ENSP00000369483:D430G	ENSP00000296591:D440G	D	-	2	0	EDIL3	83275118	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.606000	0.82863	2.180000	0.69256	0.533000	0.62120	GAC	-	HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C		0.413	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	protein_coding	OTTHUMT00000239258.1	T	NM_005711		83275118	-1	no_errors	NM_005711	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
IGKV1-17	28937	genome.wustl.edu	37	2	89416874	89416874	+	RNA	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:89416874C>T	ENST00000490686.1	-	0	336									immunoglobulin kappa variable 1-17																		GTTGCAAAATCTTCAGGCTGC	0.502																																																0			2											51.0	58.0	56.0					2																	89416874		1809	4037	5846	89197989			3514			X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89416874C>T			89197989		Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406	p.D104N	ENST00000490686.1	37	c.310		2																																																																																			-	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406		0.502	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKC	IG_V_gene	OTTHUMT00000323399.1	C	NG_000834		89197989	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390254	ensembl	human	known	54_36p	missense	SNP	1.000	T
CRADD	8738	genome.wustl.edu	37	12	94072640	94072640	+	Silent	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr12:94072640C>G	ENST00000542893.2	+	2	408	c.90C>G	c.(88-90)ctC>ctG	p.L30L	CRADD_ENST00000332896.3_Silent_p.L30L|CRADD_ENST00000541813.1_Silent_p.L30L|CRADD_ENST00000552033.1_Silent_p.L30L|CRADD_ENST00000548483.1_Silent_p.L30L|CRADD_ENST00000552983.1_Silent_p.L30L			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	30	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TTCAGTACCTCTACCAGGAAG	0.502																																																0			12											75.0	70.0	71.0					12																	94072640		2203	4300	6503	92596771	SO:0001819	synonymous_variant	8738			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.90C>G	12.37:g.94072640C>G			92596771	B7Z2Q5	Silent	SNP	HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,HMMSmart_SM00005,HMMPfam_Death,PatternScan_IG_MHC	p.L30	ENST00000542893.2	37	c.90	CCDS9048.1	12																																																																																			-	HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD		0.502	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CRADD	protein_coding	OTTHUMT00000408515.1	C	NM_003805		92596771	+1	no_errors	NM_003805	genbank	human	reviewed	54_36p	silent	SNP	0.969	G
RCOR1	23186	genome.wustl.edu	37	14	103188669	103188669	+	Silent	SNP	T	T	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr14:103188669T>G	ENST00000570597.1	+	11	1326	c.1326T>G	c.(1324-1326)ggT>ggG	p.G442G	RCOR1_ENST00000262241.6_Silent_p.G445G			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	442					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CAGAACATGGTAAAGAAGAGA	0.413																																																0			14											126.0	136.0	133.0					14																	103188669		2203	4300	6503	102258422	SO:0001819	synonymous_variant	23186			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.1326T>G	14.37:g.103188669T>G			102258422	Q15044|Q6P2I9|Q86VG5	Silent	SNP	HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding	p.G442	ENST00000570597.1	37	c.1326		14																																																																																			-	NULL		0.413	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	protein_coding		T	NM_015156		102258422	+1	no_errors	NM_015156	genbank	human	validated	54_36p	silent	SNP	0.779	G
FGF8	2253	genome.wustl.edu	37	10	103530240	103530240	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr10:103530240G>A	ENST00000344255.3	-	6	547	c.548C>T	c.(547-549)aCg>aTg	p.T183M	FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000347978.2_Missense_Mutation_p.T165M|FGF8_ENST00000346714.3_Missense_Mutation_p.T154M|FGF8_ENST00000320185.2_Missense_Mutation_p.T194M			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	183					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GTGCTGCCGCGTCTTGGAGCC	0.642																																																0			10											44.0	42.0	43.0					10																	103530240		2203	4300	6503	103520230	SO:0001583	missense	2253			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.548C>T	10.37:g.103530240G>A	ENSP00000340039:p.Thr183Met		103520230	A1A514|Q14915|Q15766	Missense_Mutation	SNP	superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF	p.T194M	ENST00000344255.3	37	c.581	CCDS7517.1	10	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138864	0.77775	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	M	0.93241	3.395	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.962;0.962;0.979;0.999	D	0.97712	1.0191	10	0.87932	D	0	.	15.6748	0.77307	0.0:0.0:1.0:0.0	.	154;165;194;183	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	M	183;194;154;165	ENSP00000340039:T183M;ENSP00000321797:T194M;ENSP00000344306:T154M;ENSP00000321945:T165M	ENSP00000321797:T194M	T	-	2	0	FGF8	103520230	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.415000	0.97375	1.679000	0.50963	0.455000	0.32223	ACG	-	superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF		0.642	FGF8-004	KNOWN	basic|CCDS	protein_coding	FGF8	protein_coding	OTTHUMT00000049999.1	G	NM_006119, NM_033165		103520230	-1	no_errors	NM_033163	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ORC5	5001	genome.wustl.edu	37	7	103801604	103801604	+	Silent	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr7:103801604T>C	ENST00000297431.4	-	12	1207	c.1065A>G	c.(1063-1065)aaA>aaG	p.K355K	ORC5_ENST00000545943.1_Silent_p.K223K	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	355					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTGGAAATGGTTTTGGCCCAA	0.363																																																0			7											122.0	124.0	123.0					7																	103801604		2203	4300	6503	103588840	SO:0001819	synonymous_variant	5001				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.1065A>G	7.37:g.103801604T>C			103588840	A4D0P8|O60590|O95268	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases	p.K355	ENST00000297431.4	37	c.1065	CCDS5734.1	7																																																																																			-	NULL		0.363	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC5L	protein_coding	OTTHUMT00000348286.1	T	NM_002553		103588840	-1	no_errors	NM_002553	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
ZNF80	7634	genome.wustl.edu	37	3	113955598	113955598	+	Silent	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr3:113955598C>T	ENST00000482457.2	-	1	827	c.324G>A	c.(322-324)gtG>gtA	p.V108V	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCCCGCACTCCACGCACTTAC	0.547																																					GBM(23;986 1114 21716)											0			3											60.0	53.0	55.0					3																	113955598		2203	4300	6503	115438288	SO:0001819	synonymous_variant	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.324G>A	3.37:g.113955598C>T			115438288	Q6NSW4|Q6NT14	Silent	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.V108	ENST00000482457.2	37	c.324	CCDS2979.1	3																																																																																			-	superfamily_SSF57667,HMMSmart_ZnF_C2H2		0.547	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	protein_coding	OTTHUMT00000354696.2	C	NM_007136		115438288	-1	no_errors	NM_007136	genbank	human	validated	54_36p	silent	SNP	0.000	T
DPP10	57628	genome.wustl.edu	37	2	116548888	116548888	+	Silent	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:116548888C>G	ENST00000410059.1	+	19	2136	c.1656C>G	c.(1654-1656)ccC>ccG	p.P552P	DPP10_ENST00000310323.8_Silent_p.P545P|DPP10_ENST00000393147.2_Silent_p.P556P|DPP10_ENST00000409163.1_Silent_p.P502P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	552						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGTCCCTTCCCAAAGATTTTA	0.294																																																0			2											92.0	96.0	95.0					2																	116548888		2202	4299	6501	116265358	SO:0001819	synonymous_variant	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1656C>G	2.37:g.116548888C>G			116265358	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9	p.P552	ENST00000410059.1	37	c.1656	CCDS46400.1	2																																																																																			-	superfamily_alpha/beta-Hydrolases		0.294	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	protein_coding	OTTHUMT00000330580.4	C	NM_020868		116265358	+1	no_errors	NM_020868	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
FAM72B	653820	genome.wustl.edu	37	1	120846087	120846087	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr1:120846087C>T	ENST00000369390.3	+	3	1152	c.323C>T	c.(322-324)gCa>gTa	p.A108V	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Missense_Mutation_p.A68V	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	108										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CACAGCCAGGCAGTTTATGAT	0.388																																																0			1											170.0	164.0	166.0					1																	120846087		1827	4085	5912	120647610	SO:0001583	missense	653820			AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.323C>T	1.37:g.120846087C>T	ENSP00000358397:p.Ala108Val		120647610	B2RPQ5|Q5QP15	Missense_Mutation	SNP	NULL	p.A108V	ENST00000369390.3	37	c.323	CCDS41374.1	1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300580	0.60195	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.35605	1.3;1.3;1.3	2.54	2.54	0.30619	.	0.066186	0.64402	U	0.000012	T	0.23572	0.0570	M	0.64997	1.995	0.49299	D	0.999776	B;P	0.42692	0.361;0.787	B;B	0.41088	0.214;0.347	T	0.14392	-1.0474	10	0.72032	D	0.01	.	10.8119	0.46551	0.0:1.0:0.0:0.0	.	108;68	Q86X60;Q86X60-2	FA72B_HUMAN;.	V	79;108;79;68	ENSP00000358397:A108V;ENSP00000392882:A79V;ENSP00000347368:A68V	ENSP00000347368:A68V	A	+	2	0	FAM72B	120647610	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	7.148000	0.77389	1.431000	0.47355	0.398000	0.26397	GCA	-	NULL		0.388	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM72B	protein_coding	OTTHUMT00000098437.1	C			120647610	+1	no_errors	NM_001100910	genbank	human	predicted	54_36p	missense	SNP	1.000	T
ZHX2	22882	genome.wustl.edu	37	8	123965432	123965432	+	Missense_Mutation	SNP	G	G	A	rs138450443	byFrequency	TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr8:123965432G>A	ENST00000314393.4	+	3	2517	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	561					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GAACTGGATCGGCTAAGGGTG	0.493																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)											0			8						G	GLN/ARG	0,4406		0,0,2203	59.0	63.0	62.0		1682	4.1	0.6	8	dbSNP_134	62	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ZHX2	NM_014943.3	43	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	possibly-damaging	561/838	123965432	7,12999	2203	4300	6503	124034613	SO:0001583	missense	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1682G>A	8.37:g.123965432G>A	ENSP00000314709:p.Arg561Gln		124034613		Missense_Mutation	SNP	PatternScan_ZINC_FINGER_C2H2_1,PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox	p.R561Q	ENST00000314393.4	37	c.1682	CCDS6336.1	8	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280696	0.59758	0.0	8.14E-4	ENSG00000178764	ENST00000314393	D	0.95853	-3.83	5.94	4.11	0.48088	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.389466	0.27539	N	0.018914	D	0.92192	0.7524	M	0.64567	1.98	0.36507	D	0.86938	B	0.23377	0.084	B	0.12837	0.008	D	0.87935	0.2713	10	0.21014	T	0.42	-15.1613	7.8998	0.29727	0.1384:0.1336:0.728:0.0	.	561	Q9Y6X8	ZHX2_HUMAN	Q	561	ENSP00000314709:R561Q	ENSP00000314709:R561Q	R	+	2	0	ZHX2	124034613	0.992000	0.36948	0.620000	0.29132	0.997000	0.91878	2.956000	0.49129	0.818000	0.34468	0.561000	0.74099	CGG	-	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox		0.493	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	protein_coding	OTTHUMT00000381709.1	G	NM_014943		124034613	+1	no_errors	NM_014943	genbank	human	reviewed	54_36p	missense	SNP	0.046	A
OSBPL11	114885	genome.wustl.edu	37	3	125250808	125250808	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr3:125250808T>C	ENST00000296220.5	-	12	2364	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	692					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTCTGTGGCCTTATCAATTTC	0.383																																																0			3											161.0	149.0	153.0					3																	125250808		2203	4300	6503	126733498	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.2075A>G	3.37:g.125250808T>C	ENSP00000296220:p.Lys692Arg		126733498	A8K9I7	Missense_Mutation	SNP	superfamily_PH domain-like,HMMSmart_SM00233,HMMPfam_PH,HMMPfam_Oxysterol_BP,PatternScan_OSBP	p.K692R	ENST00000296220.5	37	c.2075	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891977	0.33442	.	.	ENSG00000144909	ENST00000296220	T	0.30714	1.52	4.59	3.43	0.39272	.	0.119378	0.53938	N	0.000049	T	0.20536	0.0494	L	0.38692	1.165	0.46725	D	0.999173	B	0.12630	0.006	B	0.16289	0.015	T	0.05767	-1.0865	10	0.19147	T	0.46	-8.7579	7.6307	0.28238	0.0:0.165:0.0:0.835	.	692	Q9BXB4	OSB11_HUMAN	R	692	ENSP00000296220:K692R	ENSP00000296220:K692R	K	-	2	0	OSBPL11	126733498	0.998000	0.40836	0.965000	0.40720	0.915000	0.54546	2.700000	0.47085	0.907000	0.36646	0.379000	0.24179	AAG	-	HMMPfam_Oxysterol_BP		0.383	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	protein_coding	OTTHUMT00000356295.1	T	NM_022776		126733498	-1	no_errors	NM_022776	genbank	human	reviewed	54_36p	missense	SNP	0.421	C
GAPVD1	26130	genome.wustl.edu	37	9	128067372	128067372	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr9:128067372A>G	ENST00000495955.1	+	6	1350	c.1060A>G	c.(1060-1062)Act>Gct	p.T354A	GAPVD1_ENST00000312123.9_Missense_Mutation_p.T354A|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T354A|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T354A|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T354A|GAPVD1_ENST00000394084.1_Missense_Mutation_p.T354A|GAPVD1_ENST00000470056.1_Missense_Mutation_p.T354A|GAPVD1_ENST00000394105.2_Missense_Mutation_p.T354A|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T354A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	354					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTAGCAATGACTGGCTCTGA	0.418																																																0			9											111.0	104.0	106.0					9																	128067372		2203	4300	6503	127107193	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1060A>G	9.37:g.128067372A>G	ENSP00000419063:p.Thr354Ala		127107193	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	superfamily_Rho_GAP,HMMPfam_RasGAP,superfamily_SSF109993,HMMSmart_VPS9,HMMPfam_VPS9	p.T354A	ENST00000495955.1	37	c.1060		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	12.02|12.02|12.02	1.813879|1.813879|1.813879	0.32053|0.32053|0.32053	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	.|D;D;D;D;D;D;D;D;D;D|.	.|0.81996|.	.|-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.	5.18|5.18|5.18	5.18|5.18|5.18	0.71444|0.71444|0.71444	.|Rho GTPase activation protein (1);Ras GTPase-activating protein (1);|.	.|0.156294|.	.|0.56097|.	.|D|.	.|0.000023|.	T|T|.	0.42585|0.42585|.	0.1209|0.1209|.	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.38300|0.38300|0.38300	D|D|D	0.942962|0.942962|0.942962	.|B;B;B;B;B;B;B|.	.|0.11235|.	.|0.002;0.001;0.001;0.002;0.001;0.004;0.0|.	.|B;B;B;B;B;B;B|.	.|0.08055|.	.|0.002;0.001;0.002;0.002;0.002;0.003;0.001|.	T|T|.	0.44174|0.44174|.	-0.9345|-0.9345|.	5|10|.	.|0.12103|.	.|T|.	.|0.63|.	.|.|.	14.2059|14.2059|14.2059	0.65734|0.65734|0.65734	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|354;354;354;354;354;354;354|.	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65|.	.|.;GAPD1_HUMAN;.;.;.;.;.|.	G|A|W	184|354|216	.|ENSP00000377646:T354A;ENSP00000419767:T354A;ENSP00000377665:T354A;ENSP00000377664:T354A;ENSP00000265956:T354A;ENSP00000377645:T354A;ENSP00000419063:T354A;ENSP00000418747:T354A;ENSP00000297933:T354A;ENSP00000309582:T354A|.	.|ENSP00000265956:T354A|.	D|T|X	+|+|+	2|1|3	0|0|0	GAPVD1|GAPVD1|GAPVD1	127107193|127107193|127107193	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.951000|0.951000|0.951000	0.60555|0.60555|0.60555	3.952000|3.952000|3.952000	0.56691|0.56691|0.56691	1.958000|1.958000|1.958000	0.56883|0.56883|0.56883	0.374000|0.374000|0.374000	0.22700|0.22700|0.22700	GAC|ACT|TGA	-	superfamily_Rho_GAP		0.418	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	protein_coding	OTTHUMT00000355644.1	A			127107193	+1	no_errors	NM_015635	genbank	human	validated	54_36p	missense	SNP	1.000	G
BIN1	274	genome.wustl.edu	37	2	127827645	127827645	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:127827645C>G	ENST00000316724.5	-	5	748	c.337G>C	c.(337-339)Gat>Cat	p.D113H	BIN1_ENST00000348750.4_Missense_Mutation_p.D113H|BIN1_ENST00000351659.3_Missense_Mutation_p.D113H|BIN1_ENST00000409400.1_Missense_Mutation_p.D113H|BIN1_ENST00000393041.3_Missense_Mutation_p.D113H|BIN1_ENST00000346226.3_Missense_Mutation_p.D113H|BIN1_ENST00000376113.2_Missense_Mutation_p.D113H|BIN1_ENST00000393040.3_Missense_Mutation_p.D113H|BIN1_ENST00000357970.3_Missense_Mutation_p.D113H|BIN1_ENST00000352848.3_Missense_Mutation_p.D113H|BIN1_ENST00000259238.4_Missense_Mutation_p.D113H	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	113	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with BIN2.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGGTGGTAATCCATCCACAGC	0.627																																																0			2											122.0	96.0	105.0					2																	127827645		2203	4300	6503	127544115	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.337G>C	2.37:g.127827645C>G	ENSP00000316779:p.Asp113His		127544115	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	HMMSmart_SM00721,HMMPfam_BAR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.D113H	ENST00000316724.5	37	c.337	CCDS2138.1	2	.	.	.	.	.	.	.	.	.	.	.	28.2	4.897733	0.91962	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.8	4.8	0.61643	BAR (3);	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D;D;P;D;D;D;P	0.71674	0.989;0.998;0.971;0.995;0.987;0.996;0.988;0.995;0.869;0.984;0.987;0.987;0.845	D;D;P;P;P;D;D;P;P;D;P;P;P	0.68192	0.953;0.942;0.741;0.904;0.809;0.956;0.951;0.904;0.468;0.924;0.816;0.816;0.759	T	0.81491	-0.0909	10	0.87932	D	0	-13.3645	16.8015	0.85615	0.0:1.0:0.0:0.0	.	113;89;113;113;113;113;113;113;113;113;113;113;113	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	H	113	ENSP00000365281:D113H;ENSP00000350654:D113H;ENSP00000376760:D113H;ENSP00000259237:D113H;ENSP00000259238:D113H;ENSP00000315411:D113H;ENSP00000376761:D113H;ENSP00000315388:D113H;ENSP00000315284:D113H;ENSP00000316779:D113H;ENSP00000386797:D113H	ENSP00000259238:D113H	D	-	1	0	BIN1	127544115	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.365000	0.79537	2.501000	0.84356	0.556000	0.70494	GAT	-	HMMSmart_SM00721,HMMPfam_BAR		0.627	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	protein_coding	OTTHUMT00000254298.2	C	NM_139343		127544115	-1	no_errors	NM_139343	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ADAM12	8038	genome.wustl.edu	37	10	127724748	127724748	+	Silent	SNP	G	G	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr10:127724748G>T	ENST00000368679.4	-	21	2814	c.2505C>A	c.(2503-2505)ccC>ccA	p.P835P		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	835					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCTGGCAGGGGTCTGGCAG	0.557																																																0			10											42.0	46.0	45.0					10																	127724748		2203	4300	6503	127714738	SO:0001819	synonymous_variant	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2505C>A	10.37:g.127724748G>T			127714738	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2"	p.P835	ENST00000368679.4	37	c.2505	CCDS7653.1	10																																																																																			-	NULL		0.557	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	protein_coding	OTTHUMT00000050961.1	G			127714738	-1	no_errors	NM_003474	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
EXOC4	60412	genome.wustl.edu	37	7	133749276	133749276	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr7:133749276G>A	ENST00000253861.4	+	18	2949	c.2920G>A	c.(2920-2922)Gtt>Att	p.V974I	EXOC4_ENST00000541309.1_Missense_Mutation_p.V262I|EXOC4_ENST00000539845.1_Missense_Mutation_p.V873I|EXOC4_ENST00000545148.1_Missense_Mutation_p.V584I	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	974					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GATAACTACCGTTTAGCAGGG	0.502																																																0			7											91.0	81.0	85.0					7																	133749276		2203	4300	6503	133399816	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2920G>A	7.37:g.133749276G>A	ENSP00000253861:p.Val974Ile		133399816	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	HMMPfam_Sec8_exocyst,PatternScan_DEAH_ATP_HELICASE	p.V974I	ENST00000253861.4	37	c.2920	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.231739	0.95207	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	N	0.14661	0.345	0.58432	D	0.999997	D;D;D	0.76494	0.981;0.999;0.968	D;D;P	0.76071	0.931;0.987;0.854	T	0.70167	-0.4946	9	0.87932	D	0	.	18.7424	0.91779	0.0:0.0:1.0:0.0	.	506;584;974	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	I	974;593;873;584;262	.	ENSP00000253861:V974I	V	+	1	0	EXOC4	133399816	1.000000	0.71417	0.090000	0.20809	0.180000	0.23129	9.218000	0.95166	2.642000	0.89623	0.650000	0.86243	GTT	-	NULL		0.502	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	protein_coding	OTTHUMT00000339182.1	G	NM_021807		133399816	+1	no_errors	NM_021807	genbank	human	reviewed	54_36p	missense	SNP	0.990	A
GTF3C4	9329	genome.wustl.edu	37	9	135555005	135555005	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr9:135555005G>A	ENST00000372146.4	+	2	2563	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	667					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCCAATGGAAGAGAAACTCCT	0.542																																					Pancreas(142;417 1875 11086 31973 47667)											0			9											88.0	84.0	85.0					9																	135555005		2203	4300	6503	134544826	SO:0001583	missense	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1999G>A	9.37:g.135555005G>A	ENSP00000361219:p.Glu667Lys		134544826	Q5VZJ7	Missense_Mutation	SNP	NULL	p.E667K	ENST00000372146.4	37	c.1999	CCDS6953.1	9	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317623	0.60524	.	.	ENSG00000125484	ENST00000372146	T	0.54479	0.57	5.98	5.98	0.97165	.	0.096865	0.64402	D	0.000001	T	0.45357	0.1338	N	0.24115	0.695	0.50467	D	0.999874	P	0.48407	0.91	B	0.42462	0.388	T	0.47497	-0.9113	10	0.59425	D	0.04	-36.0237	19.0214	0.92917	0.0:0.0:1.0:0.0	.	667	Q9UKN8	TF3C4_HUMAN	K	667	ENSP00000361219:E667K	ENSP00000361219:E667K	E	+	1	0	GTF3C4	134544826	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.881000	0.69706	2.838000	0.97847	0.655000	0.94253	GAG	-	NULL		0.542	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	protein_coding	OTTHUMT00000054792.1	G			134544826	+1	no_errors	NM_012204	genbank	human	validated	54_36p	missense	SNP	1.000	A
EPPK1	83481	genome.wustl.edu	37	8	144943196	144943196	+	Missense_Mutation	SNP	C	C	T	rs74777588	byFrequency	TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr8:144943196C>T	ENST00000525985.1	-	2	4297	c.4226G>A	c.(4225-4227)cGg>cAg	p.R1409Q				P58107	EPIPL_HUMAN	epiplakin 1	1409						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCTGGTCCCGCGCACTGGG	0.607													c|||	16	0.00319489	0.0015	0.0043	5008	,	,		21532	0.001		0.0099	False		,,,				2504	0.0															0			8						T	GLN/ARG	7,4377		0,7,2185	34.0	39.0	37.0		4226	-5.3	0.0	8	dbSNP_132	37	84,8500		0,84,4208	yes	missense	EPPK1	NM_031308.1	43	0,91,6393	TT,TC,CC		0.9786,0.1597,0.7017	benign	1409/2420	144943196	91,12877	2192	4292	6484	145015184	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4226G>A	8.37:g.144943196C>T	ENSP00000436337:p.Arg1409Gln		145015184	Q76E58|Q9NSU9	Missense_Mutation	SNP	HMMSmart_SM00250,superfamily_Plakin repeat,HMMPfam_Plectin	p.R1384Q	ENST00000525985.1	37	c.4151		8	12	0.005494505494505495	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	9	0.011873350923482849	c	2.636	-0.285341	0.05605	0.001597	0.009786	ENSG00000227184	ENST00000525985	T	0.67345	-0.26	4.66	-5.3	0.02738	.	.	.	.	.	T	0.30947	0.0781	N	0.03209	-0.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27123	-1.0083	9	0.18710	T	0.47	.	14.8975	0.70654	0.0:0.2367:0.0:0.7633	.	1409	E9PPU0	.	Q	1409	ENSP00000436337:R1409Q	ENSP00000436337:R1409Q	R	-	2	0	EPPK1	145015184	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.571000	0.05889	-1.779000	0.01280	-2.807000	0.00112	CGG	-	superfamily_Plakin repeat,HMMSmart_SM00250		0.607	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	protein_coding	OTTHUMT00000382675.1	C	NM_031308		145015184	-1	no_stop_codon:bad_bp_length_for_coding_region	NM_031308	genbank	human	provisional	54_36p	missense	SNP	0.001	T
IKBKE	9641	genome.wustl.edu	37	1	206666629	206666629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr1:206666629C>T	ENST00000367120.3	+	20	2336	c.1963C>T	c.(1963-1965)Cag>Tag	p.Q655*	IKBKE_ENST00000537984.1_Nonsense_Mutation_p.Q570*|C1orf147_ENST00000367119.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	655					immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGCTCCTTCAGGACCGAGC	0.577																																																0			1											71.0	78.0	76.0					1																	206666629		2203	4300	6503	204733252	SO:0001587	stop_gained	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1963C>T	1.37:g.206666629C>T	ENSP00000356087:p.Gln655*		204733252	D3DT78|Q3B754|Q3KR43|Q5JTS6	Nonsense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP	p.Q655*	ENST00000367120.3	37	c.1963	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.426954	0.98806	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	.	.	.	4.99	4.99	0.66335	.	1.085130	0.07014	N	0.825697	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-7.8746	13.9566	0.64152	0.0:1.0:0.0:0.0	.	.	.	.	X	655;570	.	ENSP00000356087:Q655X	Q	+	1	0	IKBKE	204733252	0.950000	0.32346	0.952000	0.39060	0.561000	0.35649	2.169000	0.42434	2.756000	0.94617	0.561000	0.74099	CAG	-	NULL		0.577	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	protein_coding	OTTHUMT00000088484.1	C			204733252	+1	no_errors	NM_014002	genbank	human	validated	54_36p	nonsense	SNP	0.429	T
CD46	4179	genome.wustl.edu	37	1	207930359	207930359	+	Splice_Site	SNP	A	A	G			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr1:207930359A>G	ENST00000358170.2	+	2	254	c.98A>G	c.(97-99)gAt>gGt	p.D33G	CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Splice_Site_p.D33G|CD46_ENST00000367041.1_Splice_Site_p.D33G|CD46_ENST00000361067.1_Splice_Site_p.D33G|CD46_ENST00000367042.1_Splice_Site_p.D33G|CD46_ENST00000480003.1_Splice_Site_p.D33G|CD46_ENST00000441839.2_Splice_Site_p.D33G|CD46_ENST00000360212.2_Splice_Site_p.D33G|CD46_ENST00000354848.1_Splice_Site_p.D33G|CD46_ENST00000322918.5_Splice_Site_p.D33G|CD46_ENST00000367047.1_Intron|CD46_ENST00000357714.1_Splice_Site_p.D33G	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	33					adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TTATCCCTAGATGCCTGTGAG	0.403																																																0			1											64.0	63.0	63.0					1																	207930359		2203	4300	6503	205996982	SO:0001630	splice_region_variant	4179			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.98-1A>G	1.37:g.207930359A>G			205996982	A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module	p.D33G	ENST00000358170.2	37	c.98	CCDS1485.1	1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961855	0.53400	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T	0.35605	1.36;1.39;1.44;1.38;1.41;1.43;1.38;1.3;1.35;1.46;1.39	3.51	1.15	0.20763	Sushi/SCR/CCP (1);	0.477010	0.15918	N	0.238245	T	0.51652	0.1687	M	0.72894	2.215	0.27535	N	0.950965	D;P;D;B;B;B;D;B;D;D;D;D;B;B	0.89917	0.998;0.733;0.998;0.343;0.009;0.012;0.992;0.234;0.999;1.0;0.998;0.993;0.005;0.007	D;B;P;B;B;B;D;B;D;D;D;P;B;B	0.87578	0.972;0.254;0.889;0.25;0.02;0.016;0.951;0.134;0.972;0.998;0.972;0.879;0.011;0.007	T	0.36792	-0.9733	9	.	.	.	.	5.2124	0.15325	0.7506:0.0:0.2494:0.0	.	33;33;33;33;33;33;33;33;33;33;33;33;33;33	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	G	33	ENSP00000350893:D33G;ENSP00000346912:D33G;ENSP00000314664:D33G;ENSP00000356009:D33G;ENSP00000356008:D33G;ENSP00000350346:D33G;ENSP00000313875:D33G;ENSP00000413543:D33G;ENSP00000354358:D33G;ENSP00000353342:D33G;ENSP00000418471:D33G	.	D	+	2	0	CD46	205996982	1.000000	0.71417	0.995000	0.50966	0.178000	0.23041	1.144000	0.31565	0.226000	0.20979	0.402000	0.26972	GAT	-	NULL		0.403	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	protein_coding	OTTHUMT00000088588.3	A	NM_172361	Missense_Mutation	205996982	+1	no_errors	NM_172359	genbank	human	reviewed	54_36p	missense	SNP	0.997	G
MFF	56947	genome.wustl.edu	37	2	228205024	228205024	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:228205024G>A	ENST00000353339.3	+	6	887	c.446G>A	c.(445-447)aGa>aAa	p.R149K	MFF_ENST00000349901.7_Missense_Mutation_p.R123K|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000304593.9_Missense_Mutation_p.R123K|MFF_ENST00000409616.1_Missense_Mutation_p.R123K|MFF_ENST00000337110.7_Missense_Mutation_p.R123K|MFF_ENST00000354503.6_Missense_Mutation_p.R123K|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409565.1_Missense_Mutation_p.R123K|MFF_ENST00000392059.1_Missense_Mutation_p.R149K	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	149					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)	p.R149T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GCAGTTGGCAGACTAAAAAGA	0.418																																																1	Substitution - Missense(1)	breast(1)	2											83.0	78.0	80.0					2																	228205024		2203	4300	6503	227913268	SO:0001583	missense	56947			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.446G>A	2.37:g.228205024G>A	ENSP00000302037:p.Arg149Lys		227913268	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	HMMPfam_DUF800	p.R149K	ENST00000353339.3	37	c.446	CCDS2465.1	2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392026	0.42410	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.33216	1.42;1.42	5.95	5.95	0.96441	.	0.146312	0.64402	D	0.000014	T	0.27559	0.0677	L	0.34521	1.04	0.35419	D	0.793106	B;B;B;B;B;P	0.39883	0.002;0.014;0.009;0.0;0.126;0.693	B;B;B;B;B;B	0.40659	0.006;0.027;0.006;0.002;0.039;0.336	T	0.21965	-1.0230	10	0.27785	T	0.31	.	15.1469	0.72662	0.0:0.0:0.8588:0.1412	.	123;123;123;123;123;149	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	K	123;149;123;123;123;123;123;123;149;6	ENSP00000302037:R149K;ENSP00000375912:R149K	ENSP00000304898:R123K	R	+	2	0	MFF	227913268	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.412000	0.59787	2.824000	0.97209	0.655000	0.94253	AGA	-	HMMPfam_DUF800		0.418	MFF-001	KNOWN	basic|CCDS	protein_coding	MFF	protein_coding	OTTHUMT00000256887.2	G	NM_020194		227913268	+1	no_errors	NM_020194	genbank	human	provisional	54_36p	missense	SNP	1.000	A
PASK	23178	genome.wustl.edu	37	2	242076503	242076503	+	Silent	SNP	G	G	C			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr2:242076503G>C	ENST00000405260.1	-	7	1751	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	PASK_ENST00000234040.4_Silent_p.L351L|PASK_ENST00000539818.1_Silent_p.L135L|PASK_ENST00000544142.1_Silent_p.L165L|PASK_ENST00000403638.3_Silent_p.L351L|PASK_ENST00000358649.4_Silent_p.L351L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	351	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CATCCGGCAGGAGGGTGATGA	0.647																																																0			2											77.0	73.0	75.0					2																	242076503		2203	4300	6503	241725176	SO:0001819	synonymous_variant	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1053C>G	2.37:g.242076503G>C			241725176	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.L351	ENST00000405260.1	37	c.1053	CCDS2545.1	2	.	.	.	.	.	.	.	.	.	.	G	9.920	1.211846	0.22289	.	.	ENSG00000115687	ENST00000433589	.	.	.	5.19	-6.58	0.01836	.	.	.	.	.	T	0.47728	0.1461	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50890	-0.8774	4	.	.	.	.	7.4812	0.27406	0.3975:0.4408:0.1617:0.0	.	.	.	.	C	166	.	.	S	-	2	0	PASK	241725176	0.304000	0.24472	0.892000	0.35008	0.789000	0.44602	-0.798000	0.04565	-1.156000	0.02818	0.591000	0.81541	TCC	-	HMMSmart_SM00091		0.647	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	protein_coding	OTTHUMT00000323753.1	G	NM_015148		241725176	-1	no_errors	NM_015148	genbank	human	validated	54_36p	silent	SNP	0.945	C
TRIM22	10346	genome.wustl.edu	37	11	5717689	5717725	+	Frame_Shift_Del	DEL	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	-	rs576448178|rs200668710		TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr11:5717689_5717725delACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	ENST00000379965.3	+	2	504_540	c.227_263delACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	c.(226-264)aacatagttgagagagtcaaagaggtcaagatgagcccafs	p.NIVERVKEVKMSP76fs	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	76					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CATCTGGCCAACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCCACAGGAGGGG	0.494																																					GBM(104;491 2336 5222)											0			11																																								5674301	SO:0001589	frameshift_variant	10346			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.227_263delACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	11.37:g.5717689_5717725delACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	ENSP00000369299:p.Asn76fs		5674265	Q05CQ0|Q15521	Frame_Shift_Del	DEL	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMSmart_SM00449	p.I77fs	ENST00000379965.3	37	c.227_263	CCDS41612.1	11																																																																																			(deletion:cds_exon[5674039,5674461])	superfamily_RING/U-box		0.494	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM22	protein_coding	OTTHUMT00000143387.2	ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC	NM_006074		5674301	+1	no_errors	NM_006074	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.043:0.018:0.013:0.012:0.001:0.001:0.001:0.000:0.000:0.002:0.007:0.008:0.003:0.000:0.000:0.001:0.002:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.022:0.019:0.116:0.130:0.129:0.075	-
LAMA3	3909	genome.wustl.edu	37	18	21418786	21418789	+	Frame_Shift_Del	DEL	GTAT	GTAT	-			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	GTAT	GTAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr18:21418786_21418789delGTAT	ENST00000313654.9	+	26	3376_3379	c.3135_3138delGTAT	c.(3133-3138)gagtatfs	p.EY1045fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.EY1045fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1045	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCTCAGCTGAGTATGTGAGACCAC	0.417																																																0			18																																								19672787	SO:0001589	frameshift_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3135_3138delGTAT	18.37:g.21418786_21418789delGTAT	ENSP00000324532:p.Glu1045fs		19672784	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMSmart_SM00281,HMMPfam_Laminin_B,PatternScan_EGF_2,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_CHAPERONINS_CPN60	p.Y1046fs	ENST00000313654.9	37	c.3135_3138	CCDS42419.1	18																																																																																			(deletion:cds_exon[19672743,19672840])	NULL		0.417	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	GTAT	NM_000227, NM_198129		19672787	+1	no_errors	NM_198129	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:0.991	-
FGD2	221472	genome.wustl.edu	37	6	36979630	36979634	+	Splice_Site	DEL	GGTGA	GGTGA	-			TCGA-29-1705-01A-01W-0633-09	TCGA-29-1705-10A-01W-0633-09	GGTGA	GGTGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d8379cd3-78f6-478c-a4bc-d4b3e72aa01c	7ed7a0dc-81fa-498f-b03c-a39217bdf5b3	g.chr6:36979630_36979634delGGTGA	ENST00000274963.8	+	4	698	c.527delGGTGA	c.(526-528)tgg>tg	p.W176fs		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	176	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTGGACGACTGGTGAGGTCCACCAG	0.624																																																0			6																																								37087612	SO:0001630	splice_region_variant	221472			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.527+1GGTGA>-	6.37:g.36979630_36979634delGGTGA			37087608	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Frame_Shift_Del	DEL	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger	p.W176fs	ENST00000274963.8	37	c.527	CCDS4829.1	6																																																																																			(deletion:cds_exon[37087460,37087608], intron[37087609,37089362])	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325		0.624	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	protein_coding	OTTHUMT00000040398.2	GGTGA	NM_173558	Frame_Shift_Del	37087612	+1	no_errors	NM_173558	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000	-
