#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
RPH3AL	9501	genome.wustl.edu	37	17	177536	177536	+	Intron	SNP	C	C	T	rs139651333	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr17:177536C>T	ENST00000331302.7	-	3	272				RPH3AL_ENST00000323434.8_Intron|RPH3AL_ENST00000536489.2_Intron	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)						exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		AACACTCTTCCCTCAAGGCTC	0.542													C|||	17	0.00339457	0.003	0.0101	5008	,	,		20078	0.0		0.005	False		,,,				2504	0.001															0			17																																								177536	SO:0001627	intron_variant	644132				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.36-166G>A	17.37:g.177536C>T			177536	D3DTG7|Q9BSB3	RNA	SNP	-	NULL	ENST00000331302.7	37	NULL	CCDS10994.1	17																																																																																			-	-		0.542	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC644132	protein_coding	OTTHUMT00000206597.2	C	NM_006987		177536	-1	pseudogene	XR_017532	genbank	human	model	54_36p	rna	SNP	0.000	T
TP53	7157	genome.wustl.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr17:7577097C>A	ENST00000269305.4	-	8	1030	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000420246.2_Missense_Mutation_p.D281Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTGCGCCGGTCTCTCCCAGGA	0.547		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"""	86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	17	GRCh37	CM076566	TP53	M							80.0	69.0	73.0					17																	7577097		2203	4300	6503	7517822	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.841G>T	17.37:g.7577097C>A	ENSP00000269305:p.Asp281Tyr		7517822	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.D281Y	ENST00000269305.4	37	c.841	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892841	0.91889	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	281;281;281;281;281;270;149	ENSP00000352610:D281Y;ENSP00000269305:D281Y;ENSP00000398846:D281Y;ENSP00000391127:D281Y;ENSP00000391478:D281Y;ENSP00000425104:D149Y	ENSP00000269305:D281Y	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7517822	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KIDINS220	57498	genome.wustl.edu	37	2	8890420	8890420	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:8890420T>C	ENST00000256707.3	-	24	3417	c.3236A>G	c.(3235-3237)tAc>tGc	p.Y1079C	KIDINS220_ENST00000427284.1_Missense_Mutation_p.Y1079C|KIDINS220_ENST00000473731.1_Missense_Mutation_p.Y1079C|KIDINS220_ENST00000418530.1_Missense_Mutation_p.Y1037C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1079					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGCGGGGGGTACGCCAGTCC	0.557																																																0			2											43.0	46.0	45.0					2																	8890420		1962	4135	6097	8807871	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3236A>G	2.37:g.8890420T>C	ENSP00000256707:p.Tyr1079Cys		8807871	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_KAP_NTPase,superfamily_SAM/Pointed domain	p.Y1079C	ENST00000256707.3	37	c.3236	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	T	12.62	1.993127	0.35131	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.67698	0.87;-0.28;-0.25;-0.16;-0.25;-0.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.79799	0.4508	M	0.63428	1.95	0.51482	D	0.99992	B;D;D;D;D	0.89917	0.024;0.996;0.999;1.0;1.0	B;P;D;D;D	0.72625	0.006;0.827;0.95;0.978;0.95	T	0.81234	-0.1025	10	0.62326	D	0.03	.	16.1354	0.81481	0.0:0.0:0.0:1.0	.	1080;1080;763;1037;1079	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	C	826;763;1079;1079;1037;1079;1080;88	ENSP00000420364:Y826C;ENSP00000256707:Y1079C;ENSP00000411849:Y1079C;ENSP00000414923:Y1037C;ENSP00000418974:Y1079C;ENSP00000419964:Y1080C	ENSP00000256707:Y1079C	Y	-	2	0	KIDINS220	8807871	1.000000	0.71417	0.049000	0.19019	0.015000	0.08874	4.678000	0.61641	2.207000	0.71202	0.533000	0.62120	TAC	-	NULL		0.557	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	protein_coding	OTTHUMT00000323408.2	T	NM_020738		8807871	-1	no_errors	NM_020738	genbank	human	validated	54_36p	missense	SNP	0.995	C
PIK3CD	5293	genome.wustl.edu	37	1	9780222	9780222	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:9780222C>A	ENST00000377346.4	+	11	1587	c.1392C>A	c.(1390-1392)aaC>aaA	p.N464K	PIK3CD_ENST00000543390.1_Missense_Mutation_p.N131K|PIK3CD_ENST00000361110.2_Missense_Mutation_p.N429K|PIK3CD_ENST00000536656.1_Missense_Mutation_p.N429K	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	464	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GTAACCCCAACACGGATAGCG	0.657																																																0			1											57.0	55.0	56.0					1																	9780222		2203	4300	6503	9702809	SO:0001583	missense	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1392C>A	1.37:g.9780222C>A	ENSP00000366563:p.Asn464Lys		9702809	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_SSF54236,HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,HMMSmart_PI3K_C2,superfamily_C2_CaLB,HMMPfam_PI3K_C2,superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2	p.N464K	ENST00000377346.4	37	c.1392	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940959	0.52972	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.54	4.63	0.57726	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	M	0.80183	2.485	0.51767	D	0.999932	P;D;D	0.64830	0.902;0.994;0.988	P;D;D	0.70935	0.733;0.971;0.947	T	0.81714	-0.0807	10	0.25751	T	0.34	-56.5584	14.3267	0.66526	0.0:0.9286:0.0:0.0714	.	464;429;464	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	K	429;464;429;429;131	ENSP00000446444:N429K;ENSP00000366563:N464K;ENSP00000354410:N429K;ENSP00000443811:N131K	ENSP00000353766:N429K	N	+	3	2	PIK3CD	9702809	1.000000	0.71417	0.995000	0.50966	0.036000	0.12997	3.269000	0.51592	1.358000	0.45922	0.462000	0.41574	AAC	-	superfamily_C2_CaLB,HMMPfam_PI3K_C2		0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	protein_coding	OTTHUMT00000004235.1	C	NM_005026		9702809	+1	no_errors	NM_005026	genbank	human	validated	54_36p	missense	SNP	1.000	A
OFCC1	266553	genome.wustl.edu	37	6	9908768	9908768	+	Missense_Mutation	SNP	G	G	A	rs370783043		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:9908768G>A	ENST00000316020.6	-	5	529	c.530C>T	c.(529-531)aCg>aTg	p.T177M	OFCC1_ENST00000472329.1_5'UTR			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	109										endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				GCTGACCTCCGTCGCACACTG	0.413																																																0			6						G	MET/THR	0,4406		0,0,2203	171.0	154.0	160.0		530	4.6	1.0	6		160	1,8599	1.2+/-3.3	0,1,4299	no	missense	OFCC1	XM_003118558.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	177/952	9908768	1,13005	2203	4300	6503	10016754	SO:0001583	missense	266553			AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.530C>T	6.37:g.9908768G>A	ENSP00000325053:p.Thr177Met		10016754	Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Missense_Mutation	SNP	NULL	p.T109M	ENST00000316020.6	37	c.326		6	.	.	.	.	.	.	.	.	.	.	G	0.309	-0.968818	0.02232	0.0	1.16E-4	ENSG00000181355	ENST00000460363;ENST00000316020;ENST00000491508	T;T	0.29397	1.57;1.57	5.79	4.63	0.57726	.	0.129009	0.56097	N	0.000038	T	0.07413	0.0187	.	.	.	0.27031	N	0.964238	B;B;B;B;B	0.12013	0.005;0.002;0.002;0.005;0.0	B;B;B;B;B	0.06405	0.002;0.0;0.0;0.002;0.0	T	0.27123	-1.0083	8	.	.	.	-10.2306	10.7221	0.46046	0.9278:0.0:0.0722:0.0	.	113;177;109;109;109	B7ZLI9;Q8IZS5-2;E9PHR2;Q8IZS5;Q8IZS5-3	.;.;.;OFCC1_HUMAN;.	M	109;177;177	ENSP00000325053:T177M;ENSP00000418251:T177M	.	T	-	2	0	OFCC1	10016754	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.368000	0.52357	1.006000	0.39211	-0.294000	0.09567	ACG	-	NULL		0.413	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	OFCC1	protein_coding		G	NM_153003		10016754	-1	no_errors	NM_153003	genbank	human	provisional	54_36p	missense	SNP	1.000	A
ZNF18	7566	genome.wustl.edu	37	17	11894352	11894352	+	Silent	SNP	T	T	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr17:11894352T>G	ENST00000322748.3	-	5	1120	c.516A>C	c.(514-516)tcA>tcC	p.S172S	ZNF18_ENST00000454073.3_Silent_p.S172S|ZNF18_ENST00000580306.2_Silent_p.S172S	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	172					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CCCCAGGCCCTGAGGATGAAT	0.512																																																0			17											220.0	216.0	217.0					17																	11894352		2203	4300	6503	11835077	SO:0001819	synonymous_variant	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.516A>C	17.37:g.11894352T>G			11835077	Q5QHQ3|Q8IYC4|Q8NAH6	Silent	SNP	HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_KRAB,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.S172	ENST00000322748.3	37	c.516	CCDS32568.1	17																																																																																			-	NULL		0.512	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	protein_coding	OTTHUMT00000441450.2	T	XM_085596		11835077	-1	no_errors	NM_144680	genbank	human	provisional	54_36p	silent	SNP	0.000	G
HOOK2	29911	genome.wustl.edu	37	19	12875679	12875679	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:12875679G>A	ENST00000397668.3	-	20	1849	c.1776C>T	c.(1774-1776)gaC>gaT	p.D592D	HOOK2_ENST00000264827.5_Silent_p.D590D|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	592	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGGCCCGCAAGTCCGCGTCCT	0.632											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											81.0	85.0	84.0					19																	12875679		2054	4189	6243	12736679	SO:0001819	synonymous_variant	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1776C>T	19.37:g.12875679G>A		683	12736679	O60562	Silent	SNP	HMMPfam_HOOK	p.D592	ENST00000397668.3	37	c.1776	CCDS42508.1	19																																																																																			-	HMMPfam_HOOK		0.632	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	protein_coding	OTTHUMT00000451008.1	G	NM_013312		12736679	-1	no_errors	NM_013312	genbank	human	validated	54_36p	silent	SNP	1.000	A
PRAMEF1	65121	genome.wustl.edu	37	1	12855690	12855690	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:12855690C>T	ENST00000332296.7	+	4	1073	c.970C>T	c.(970-972)Cat>Tat	p.H324Y	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.H79Y	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	324					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)		TTACCTAAAGCATCTGAATCT	0.493																																																0			1											71.0	78.0	76.0					1																	12855690		2201	4297	6498	12778277	SO:0001583	missense	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.970C>T	1.37:g.12855690C>T	ENSP00000332134:p.His324Tyr		12778277	Q9UQP2	Missense_Mutation	SNP	superfamily_SSF52047	p.H324Y	ENST00000332296.7	37	c.970	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	6.367	0.435823	0.12104	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.10960	2.82;2.82	1.56	-0.557	0.11800	.	1.591000	0.03323	N	0.192165	T	0.11580	0.0282	L	0.56396	1.775	0.09310	N	1	P	0.35208	0.49	B	0.33750	0.169	T	0.25606	-1.0127	10	0.36615	T	0.2	.	3.4545	0.07510	0.2704:0.4218:0.3079:0.0	.	324	O95521	PRAM1_HUMAN	Y	324;79	ENSP00000332134:H324Y;ENSP00000383616:H79Y	ENSP00000332134:H324Y	H	+	1	0	PRAMEF1	12778277	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.724000	0.04947	-0.163000	0.10946	0.205000	0.17691	CAT	-	superfamily_SSF52047		0.493	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	protein_coding	OTTHUMT00000005458.1	C	NM_023013		12778277	+1	no_errors	NM_023013	genbank	human	provisional	54_36p	missense	SNP	0.001	T
IQSEC1	9922	genome.wustl.edu	37	3	12966207	12966207	+	Missense_Mutation	SNP	C	C	T	rs200196417		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:12966207C>T	ENST00000273221.4	-	4	1862	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	549	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACAAAGCCACGCTCGATGAG	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		18588	0.001		0.0	False		,,,				2504	0.0															0			3						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	75.0	76.0		1604,1646	4.3	1.0	3		76	0,8600		0,0,4300	no	missense,missense	IQSEC1	NM_001134382.1,NM_014869.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	535/1115,549/964	12966207	1,13005	2203	4300	6503	12941207	SO:0001583	missense	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1646G>A	3.37:g.12966207C>T	ENSP00000273221:p.Arg549His		12941207	O94863|Q96D85	Missense_Mutation	SNP	superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222,superfamily_PH domain-like,HMMSmart_SM00233	p.R549H	ENST00000273221.4	37	c.1646	CCDS33703.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	29.8	5.036512	0.93630	2.27E-4	0.0	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.55413	0.52;0.52	4.28	4.28	0.50868	SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	.	.	.	0.80722	D	1	P;D;P	0.89917	0.615;1.0;0.462	B;D;B	0.76575	0.418;0.988;0.327	T	0.77387	-0.2607	9	0.56958	D	0.05	.	17.0637	0.86554	0.0:1.0:0.0:0.0	.	535;535;549	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	H	549;535;535	ENSP00000273221:R549H;ENSP00000402299:R535H	ENSP00000273221:R549H	R	-	2	0	IQSEC1	12941207	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	7.736000	0.84948	2.085000	0.62840	0.655000	0.94253	CGT	-	superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222		0.677	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	protein_coding	OTTHUMT00000339865.2	C	NM_014869		12941207	-1	no_errors	NM_014869	genbank	human	validated	54_36p	missense	SNP	0.999	T
GRIN2B	2904	genome.wustl.edu	37	12	13768503	13768503	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr12:13768503G>T	ENST00000609686.1	-	6	1633	c.1424C>A	c.(1423-1425)aCc>aAc	p.T475N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	475					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGGTCATAGGTGAACTTCAC	0.428																																																0			12											174.0	186.0	182.0					12																	13768503		2203	4300	6503	13659770	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1424C>A	12.37:g.13768503G>T	ENSP00000477455:p.Thr475Asn		13659770	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C	p.T475N	ENST00000609686.1	37	c.1424	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.085637	0.94100	.	.	ENSG00000150086	ENST00000279593	T	0.52057	0.68	6.02	6.02	0.97574	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63292	-0.6670	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	475	Q13224	NMDE2_HUMAN	N	475	ENSP00000279593:T475N	ENSP00000279593:T475N	T	-	2	0	GRIN2B	13659770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.863000	0.99569	2.850000	0.98022	0.650000	0.86243	ACC	-	superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd		0.428	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	protein_coding	OTTHUMT00000268014.2	G			13659770	-1	no_errors	NM_000834	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TRIO	7204	genome.wustl.edu	37	5	14406748	14406748	+	Silent	SNP	A	A	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:14406748A>G	ENST00000344204.4	+	33	4950	c.4926A>G	c.(4924-4926)tcA>tcG	p.S1642S	TRIO_ENST00000537187.1_Silent_p.S1642S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1642					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCATCGCCTCACGGACGTCTC	0.572																																																0			5											115.0	103.0	107.0					5																	14406748		2203	4300	6503	14459748	SO:0001819	synonymous_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4926A>G	5.37:g.14406748A>G			14459748	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	superfamily_CRAL/TRIO domain,HMMSmart_SM00516,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST	p.S1642	ENST00000344204.4	37	c.4926	CCDS3883.1	5																																																																																			-	superfamily_SH3-domain		0.572	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	A	NM_007118		14459748	+1	no_errors	NM_007118	genbank	human	validated	54_36p	silent	SNP	0.638	G
TXNRD2	10587	genome.wustl.edu	37	22	19865679	19865679	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr22:19865679A>C	ENST00000400521.1	-	16	1385	c.1379T>G	c.(1378-1380)gTg>gGg	p.V460G	TXNRD2_ENST00000535882.1_Missense_Mutation_p.V459G|TXNRD2_ENST00000542719.1_Missense_Mutation_p.V430G|TXNRD2_ENST00000400518.1_Missense_Mutation_p.V430G|TXNRD2_ENST00000400519.1_Missense_Mutation_p.V459G	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	460					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CAGGCCCAGCACCAGCTGTGG	0.617																																																0			22											38.0	43.0	41.0					22																	19865679		2066	4200	6266	18245679	SO:0001583	missense	10587			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1379T>G	22.37:g.19865679A>C	ENSP00000383365:p.Val460Gly		18245679	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,PatternScan_PYRIDINE_REDOX_1,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,HMMPfam_Pyr_redox_dim	p.V460G	ENST00000400521.1	37	c.1379	CCDS42981.1	22	.	.	.	.	.	.	.	.	.	.	A	17.09	3.301657	0.60195	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	D;D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64;-3.64	5.07	5.07	0.68467	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.122083	0.53938	D	0.000046	D	0.97892	0.9307	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.986	D	0.99007	1.0813	10	0.87932	D	0	-24.6671	14.1204	0.65184	1.0:0.0:0.0:0.0	.	460;459;437	Q9NNW7;D3YTF9;D3YTF8	TRXR2_HUMAN;.;.	G	430;460;460;437;364;459;459;430	ENSP00000383362:V430G;ENSP00000383365:V460G;ENSP00000383369:V437G;ENSP00000383363:V459G;ENSP00000439314:V459G;ENSP00000439570:V430G	ENSP00000383362:V430G	V	-	2	0	TXNRD2	18245679	0.920000	0.31207	1.000000	0.80357	0.220000	0.24768	6.298000	0.72763	2.046000	0.60703	0.379000	0.24179	GTG	-	superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,HMMPfam_Pyr_redox_dim		0.617	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	protein_coding	OTTHUMT00000314903.3	A	NM_006440		18245679	-1	no_errors	ENST00000400516	ensembl	human	known	54_36p	missense	SNP	1.000	C
PARP4P2	645771	genome.wustl.edu	37	13	19976651	19976651	+	IGR	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr13:19976651G>A								LINC00421 (55762 upstream) : RP11-385E5.5 (5530 downstream)																							CAGTTTATTCGCACCAGGTTG	0.398																																																0			13																																								18874651	SO:0001628	intergenic_variant	645771																															13.37:g.19976651G>A			18874651		RNA	SNP	-	NULL		37	NULL		13																																																																																			-	-	0	0.398					LOC645771			G			18874651	+1	pseudogene	XR_017036	genbank	human	model	54_36p	rna	SNP	0.387	A
HERC2P2	400322	genome.wustl.edu	37	15	23318533	23318533	+	RNA	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr15:23318533C>A	ENST00000560464.1	-	0	2550									hect domain and RLD 2 pseudogene 2																		CCTGATCGCCCCATTTCCAGT	0.473																																																0			15																																								20869974			400322			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23318533C>A			20869974		RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15																																																																																			-	-		0.473	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	pseudogene	OTTHUMT00000415936.1	C			20869974	-1	pseudogene	NR_002824	genbank	human	validated	54_36p	rna	SNP	1.000	A
MUC15	143662	genome.wustl.edu	37	11	26582640	26582640	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:26582640T>C	ENST00000455601.2	-	4	1095	c.977A>G	c.(976-978)gAc>gGc	p.D326G	MUC15_ENST00000529533.1_Missense_Mutation_p.D353G|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.D303G|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.D303G|MUC15_ENST00000436318.2_Missense_Mutation_p.D353G|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	326					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TGGAGGTATGTCATCCATAGG	0.393																																																0			11											197.0	178.0	184.0					11																	26582640		2203	4300	6503	26539216	SO:0001583	missense	143662			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.977A>G	11.37:g.26582640T>C	ENSP00000397339:p.Asp326Gly		26539216	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	NULL	p.D326G	ENST00000455601.2	37	c.977	CCDS7859.1	11	.	.	.	.	.	.	.	.	.	.	T	17.77	3.472091	0.63737	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.31769	1.51;1.48;1.5;1.48;1.5	5.33	2.98	0.34508	.	0.393988	0.20851	N	0.084536	T	0.35038	0.0918	L	0.29908	0.895	0.26624	N	0.972593	D;D;D	0.67145	0.996;0.985;0.985	P;P;P	0.62491	0.903;0.833;0.833	T	0.09079	-1.0691	10	0.52906	T	0.07	-22.0025	7.2981	0.26405	0.0:0.0785:0.1514:0.7702	.	303;326;353	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	G	326;353;303;353;303	ENSP00000397339:D326G;ENSP00000416753:D353G;ENSP00000281268:D303G;ENSP00000431983:D353G;ENSP00000431945:D303G	ENSP00000281268:D303G	D	-	2	0	MUC15	26539216	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	1.775000	0.38584	0.412000	0.25729	0.482000	0.46254	GAC	-	NULL		0.393	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	protein_coding	OTTHUMT00000387866.1	T	NM_145650		26539216	-1	no_errors	NM_145650	genbank	human	validated	54_36p	missense	SNP	0.946	C
EOMES	8320	genome.wustl.edu	37	3	27763020	27763020	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:27763020C>T	ENST00000295743.4	-	1	969	c.766G>A	c.(766-768)Ggg>Agg	p.G256R	EOMES_ENST00000449599.1_Missense_Mutation_p.G256R|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	256	Gly-rich.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CCCAGGCCCCCCAGTCCTCCG	0.677																																																0			3											14.0	24.0	20.0					3																	27763020		2199	4295	6494	27738024	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.766G>A	3.37:g.27763020C>T	ENSP00000295743:p.Gly256Arg		27738024	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2	p.G256R	ENST00000295743.4	37	c.766	CCDS2646.1	3	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800654	0.50315	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000535713	D;D	0.85339	-1.97;-1.97	4.97	4.97	0.65823	.	2.369060	0.02751	U	0.117434	D	0.88168	0.6364	L	0.38531	1.155	0.80722	D	1	D;P;P	0.67145	0.996;0.944;0.906	D;P;P	0.63381	0.914;0.79;0.621	T	0.76929	-0.2777	10	0.16896	T	0.51	.	10.6394	0.45584	0.0:0.9091:0.0:0.0909	.	256;256;256	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	R	256;256;121	ENSP00000295743:G256R;ENSP00000388620:G256R	ENSP00000295743:G256R	G	-	1	0	EOMES	27738024	0.993000	0.37304	0.835000	0.33067	0.961000	0.63080	0.945000	0.29056	2.275000	0.75901	0.462000	0.41574	GGG	-	NULL		0.677	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	protein_coding	OTTHUMT00000252995.1	C	NM_005442		27738024	-1	no_errors	NM_005442	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
C2orf71	388939	genome.wustl.edu	37	2	29296903	29296903	+	Silent	SNP	A	A	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:29296903A>G	ENST00000331664.5	-	1	224	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	75					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCATGAGCTGACAAAGACCTT	0.512																																																0			2											155.0	146.0	149.0					2																	29296903		1942	4153	6095	29150407	SO:0001819	synonymous_variant	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.225T>C	2.37:g.29296903A>G			29150407		Silent	SNP	NULL	p.C75	ENST00000331664.5	37	c.225	CCDS42669.1	2																																																																																			-	NULL		0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	protein_coding	OTTHUMT00000324924.3	A	NM_001029883		29150407	-1	no_errors	NM_001029883	genbank	human	predicted	54_36p	silent	SNP	0.001	G
HLA-V	352962	genome.wustl.edu	37	6	29760535	29760535	+	RNA	SNP	G	G	A	rs192929095	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:29760535G>A	ENST00000457107.1	+	0	353									major histocompatibility complex, class I, V (pseudogene)																		CATCCCCCACGGACCGCCCGG	0.692													g|||	58	0.0115815	0.0257	0.0187	5008	,	,		9880	0.001		0.0099	False		,,,				2504	0.0															0			6																																								29868514			54435			M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760535G>A			29868514		RNA	SNP	-	NULL	ENST00000457107.1	37	NULL		6																																																																																			-	-		0.692	HLA-V-003	KNOWN	basic	processed_transcript	HCG4	pseudogene	OTTHUMT00000105231.1	G	NG_002729		29868514	-1	pseudogene	NR_002139	genbank	human	validated	54_36p	rna	SNP	0.014	A
KIFC1	3833	genome.wustl.edu	37	6	33372752	33372752	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:33372752G>C	ENST00000428849.2	+	7	1330	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	294					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TCATGGGCTAGAAATGGAGCG	0.627																																																0			6											72.0	72.0	72.0					6																	33372752		2203	4300	6503	33480730	SO:0001583	missense	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.880G>C	6.37:g.33372752G>C	ENSP00000393963:p.Glu294Gln		33480730	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1	p.E294Q	ENST00000428849.2	37	c.880	CCDS34430.1	6	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805596	0.70682	.	.	ENSG00000237649	ENST00000428849	D	0.83250	-1.7	5.14	5.14	0.70334	.	0.107205	0.64402	D	0.000008	D	0.86602	0.5972	M	0.69523	2.12	0.53688	D	0.999979	D;D	0.65815	0.995;0.995	P;P	0.58391	0.791;0.838	D	0.86800	0.1991	10	0.52906	T	0.07	-20.2433	16.1562	0.81670	0.0:0.0:1.0:0.0	.	286;294	B4E063;Q9BW19	.;KIFC1_HUMAN	Q	294	ENSP00000393963:E294Q	ENSP00000393963:E294Q	E	+	1	0	KIFC1	33480730	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	6.527000	0.73803	2.677000	0.91161	0.655000	0.94253	GAA	-	superfamily_SSF52540		0.627	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	protein_coding	OTTHUMT00000076417.1	G	NM_002263		33480730	+1	no_errors	NM_002263	genbank	human	validated	54_36p	missense	SNP	0.965	C
MYH9	4627	genome.wustl.edu	37	22	36712684	36712684	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr22:36712684C>A	ENST00000216181.5	-	12	1488	c.1258G>T	c.(1258-1260)Gcg>Tcg	p.A420S	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	420	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCATAGGTCGCCTTGGCCAAG	0.597			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0			22											61.0	59.0	60.0					22																	36712684		2203	4300	6503	35042630	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1258G>T	22.37:g.36712684C>A	ENSP00000216181:p.Ala420Ser		35042630	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Regulator of G-protein signaling RGS	p.A420S	ENST00000216181.5	37	c.1258	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.389777	0.95988	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.73258	-0.73	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	L	0.60957	1.885	0.80722	D	1	B	0.24483	0.104	B	0.33196	0.159	T	0.65772	-0.6087	10	0.21540	T	0.41	.	18.5469	0.91050	0.0:1.0:0.0:0.0	.	420	P35579	MYH9_HUMAN	S	284;420	ENSP00000216181:A420S	ENSP00000216181:A420S	A	-	1	0	MYH9	35042630	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.538000	0.85594	0.585000	0.79938	GCG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head		0.597	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	protein_coding	OTTHUMT00000259110.3	C	NM_002473		35042630	-1	no_errors	NM_002473	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TRIOBP	11078	genome.wustl.edu	37	22	38121191	38121191	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr22:38121191G>T	ENST00000406386.3	+	7	2883	c.2628G>T	c.(2626-2628)gaG>gaT	p.E876D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	876					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAAAAGGAGAATCTGAGAC	0.522																																																0			22											139.0	151.0	147.0					22																	38121191		2033	4166	6199	36451137	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2628G>T	22.37:g.38121191G>T	ENSP00000384312:p.Glu876Asp		36451137	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like	p.E876D	ENST00000406386.3	37	c.2628	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695376	0.30052	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.17370	2.28	4.19	3.16	0.36331	.	.	.	.	.	T	0.05731	0.0150	N	0.02403	-0.565	0.20563	N	0.99989	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	9	0.02654	T	1	.	10.0364	0.42131	0.0:0.7816:0.2184:0.0	.	876	Q9H2D6	TARA_HUMAN	D	876	ENSP00000384312:E876D	ENSP00000384312:E876D	E	+	3	2	TRIOBP	36451137	0.016000	0.18221	0.024000	0.17045	0.577000	0.36160	0.222000	0.17699	1.113000	0.41760	-0.514000	0.04452	GAG	-	NULL		0.522	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	G			36451137	+1	no_errors	NM_001039141	genbank	human	reviewed	54_36p	missense	SNP	0.025	T
TTC21A	199223	genome.wustl.edu	37	3	39170310	39170310	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:39170310C>G	ENST00000431162.2	+	14	1938	c.1804C>G	c.(1804-1806)Cca>Gca	p.P602A	TTC21A_ENST00000440121.1_Missense_Mutation_p.P554A|TTC21A_ENST00000301819.6_Missense_Mutation_p.P603A			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	602										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CATCAAATTGCCAGCTCTGAA	0.557																																																0			3											101.0	102.0	102.0					3																	39170310		1939	4145	6084	39145314	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1804C>G	3.37:g.39170310C>G	ENSP00000398211:p.Pro602Ala		39145314	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028	p.P603A	ENST00000431162.2	37	c.1807	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736671	0.69304	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.75367	-0.93;-0.0;0.7	4.83	4.83	0.62350	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000007	T	0.81969	0.4935	L	0.60067	1.865	0.58432	D	0.999994	D;D;D	0.76494	0.999;0.99;0.982	D;P;P	0.66716	0.946;0.768;0.591	T	0.77950	-0.2395	10	0.18276	T	0.48	-11.5299	17.0538	0.86527	0.0:1.0:0.0:0.0	.	554;603;602	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	A	603;585;602;554	ENSP00000301819:P603A;ENSP00000398211:P602A;ENSP00000410882:P554A	ENSP00000301819:P603A	P	+	1	0	TTC21A	39145314	1.000000	0.71417	0.070000	0.20053	0.504000	0.33889	7.365000	0.79537	2.386000	0.81285	0.563000	0.77884	CCA	-	superfamily_TPR-like,HMMSmart_SM00028		0.557	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	protein_coding	OTTHUMT00000377829.1	C	NM_145755		39145314	+1	no_errors	NM_001105513	genbank	human	validated	54_36p	missense	SNP	0.148	G
NSF	4905	genome.wustl.edu	37	17	44799395	44799395	+	Intron	SNP	C	C	G	rs560423019	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr17:44799395C>G	ENST00000398238.4	+	16	1868				NSF_ENST00000225282.8_Intron|NSF_ENST00000575068.1_Intron	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor						exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		CCTTGGCTGCCGTAATATTCA	0.522																																					Ovarian(25;472 742 1472 36813 50223)											0			17																																								42154579	SO:0001627	intron_variant	644315				CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1762-4520C>G	17.37:g.44799395C>G			42154579	A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	RNA	SNP	-	NULL	ENST00000398238.4	37	NULL	CCDS42354.1	17																																																																																			-	-		0.522	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC644315	protein_coding	OTTHUMT00000259348.2	C	NM_006178		42154579	-1	pseudogene	XR_017529	genbank	human	model	54_36p	rna	SNP	0.999	G
RP11-156P1.2	0	genome.wustl.edu	37	17	45095037	45095037	+	Intron	SNP	T	T	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr17:45095037T>C	ENST00000571841.1	+	8	736				GOSR2_ENST00000439730.2_Intron|RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CGTTGGAGCCTTGCTGAGATT	0.448																																																0			17																																								42450036	SO:0001627	intron_variant	644397																														ENST00000571841.1:c.677-7009T>C	17.37:g.45095037T>C			42450036		RNA	SNP	-	NULL	ENST00000571841.1	37	NULL		17																																																																																			-	-		0.448	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	LOC644397	protein_coding	OTTHUMT00000440447.1	T			42450036	+1	pseudogene	XR_042323	genbank	human	model	54_36p	rna	SNP	0.123	C
CCDC13	152206	genome.wustl.edu	37	3	42798683	42798683	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:42798683T>A	ENST00000310232.6	-	3	328	c.245A>T	c.(244-246)cAc>cTc	p.H82L	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	82										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ATTTCGAAGGTGTTCAATCTC	0.493																																																0			3											182.0	164.0	170.0					3																	42798683		2203	4300	6503	42773687	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.245A>T	3.37:g.42798683T>A	ENSP00000309836:p.His82Leu		42773687		Missense_Mutation	SNP	NULL	p.H82L	ENST00000310232.6	37	c.245	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438650	0.43326	.	.	ENSG00000244607	ENST00000310232	T	0.22336	1.96	5.37	2.78	0.32641	.	0.506280	0.23017	N	0.052891	T	0.13500	0.0327	L	0.34521	1.04	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.09377	0.004;0.002;0.001	T	0.08932	-1.0698	10	0.27082	T	0.32	.	6.5371	0.22361	0.1379:0.0785:0.0:0.7836	.	82;82;82	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	L	82	ENSP00000309836:H82L	ENSP00000309836:H82L	H	-	2	0	CCDC13	42773687	1.000000	0.71417	0.868000	0.34077	0.922000	0.55478	3.337000	0.52120	0.853000	0.35312	0.482000	0.46254	CAC	-	NULL		0.493	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	protein_coding	OTTHUMT00000256652.1	T	NM_144719		42773687	-1	no_errors	NM_144719	genbank	human	validated	54_36p	missense	SNP	0.998	A
MPL	4352	genome.wustl.edu	37	1	43803899	43803899	+	Missense_Mutation	SNP	C	C	T	rs61754776	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:43803899C>T	ENST00000372470.3	+	2	251	c.209C>T	c.(208-210)cCg>cTg	p.P70L	MPL_ENST00000413998.2_Missense_Mutation_p.P70L	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	70					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TATGCCTACCCGCGGTAGGTG	0.587			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						C|||	4	0.000798722	0.0	0.0	5008	,	,		18093	0.004		0.0	False		,,,				2504	0.0				NSCLC(52;534 1204 10016 41452 44427)	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	L	0			1						C	LEU/PRO	0,4406		0,0,2203	76.0	71.0	73.0		209	2.6	0.9	1	dbSNP_129	73	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MPL	NM_005373.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	70/636	43803899	2,13004	2203	4300	6503	43576486	SO:0001583	missense	4352			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.209C>T	1.37:g.43803899C>T	ENSP00000361548:p.Pro70Leu		43576486	Q5JUZ0	Missense_Mutation	SNP	superfamily_Fibronectin type III,HMMPfam_EpoR_lig-bind,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_HEMATOPO_REC_L_F1	p.P70L	ENST00000372470.3	37	c.209	CCDS483.1	1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786151	0.31593	0.0	2.33E-4	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	T;T	0.67865	-0.29;-0.29	5.61	2.63	0.31362	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.964622	0.08696	N	0.907222	T	0.58750	0.2144	L	0.57536	1.79	0.30216	N	0.797241	B;P;P	0.46142	0.375;0.484;0.873	B;B;B	0.35655	0.137;0.129;0.207	T	0.52845	-0.8521	10	0.38643	T	0.18	0.0712	9.6483	0.39881	0.1492:0.5626:0.2882:0.0	rs61754776	63;70;70	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	L	70	ENSP00000361548:P70L;ENSP00000414004:P70L	ENSP00000361546:P70L	P	+	2	0	MPL	43576486	0.172000	0.23043	0.908000	0.35775	0.965000	0.64279	0.108000	0.15396	0.366000	0.24427	-0.158000	0.13435	CCG	-	superfamily_Fibronectin type III,HMMPfam_EpoR_lig-bind		0.587	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPL	protein_coding	OTTHUMT00000019522.1	C	NM_005373		43576486	+1	no_errors	NM_005373	genbank	human	reviewed	54_36p	missense	SNP	0.968	T
SPTBN4	57731	genome.wustl.edu	37	19	41003477	41003477	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:41003477G>T	ENST00000352632.3	+	7	836	c.750G>T	c.(748-750)caG>caT	p.Q250H	SPTBN4_ENST00000344104.3_Missense_Mutation_p.Q250H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.Q250H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.Q250H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.Q250H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	250	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCTGAGCAGCACCTGGGGC	0.627																																																0			19											85.0	77.0	80.0					19																	41003477		2203	4300	6503	45695317	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.750G>T	19.37:g.41003477G>T	ENSP00000263373:p.Gln250His		45695317	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.Q250H	ENST00000352632.3	37	c.750	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420556	0.42918	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.59638	0.25;0.25;0.25	3.92	2.87	0.33458	Calponin homology domain (5);	0.230513	0.28409	U	0.015444	T	0.56217	0.1970	L	0.35341	1.055	0.80722	D	1	D;P	0.61697	0.99;0.845	P;P	0.58266	0.836;0.524	T	0.51810	-0.8658	10	0.37606	T	0.19	.	8.159	0.31187	0.2025:0.0:0.7975:0.0	.	250;250	Q9H254;Q71S06	SPTN4_HUMAN;.	H	250	ENSP00000263373:Q250H;ENSP00000340345:Q250H;ENSP00000340741:Q250H	ENSP00000340345:Q250H	Q	+	3	2	SPTBN4	45695317	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.345000	0.44018	0.857000	0.35407	0.460000	0.39030	CAG	-	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033		0.627	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	G			45695317	+1	no_errors	NM_020971	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RAD54L	8438	genome.wustl.edu	37	1	46733195	46733195	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:46733195G>A	ENST00000371975.4	+	9	1630	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.R319Q	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	319	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AACACCAGCCGGCGGGTGCTC	0.493								Direct reversal of damage;Homologous recombination																																								0			1											82.0	81.0	81.0					1																	46733195		2203	4300	6503	46505782	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.956G>A	1.37:g.46733195G>A	ENSP00000361043:p.Arg319Gln		46505782	Q5TE31|Q6IUY3	Missense_Mutation	SNP	HMMSmart_DEXDc,superfamily_SSF52540,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C	p.R319Q	ENST00000371975.4	37	c.956	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.886987	0.97068	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93019	-3.15;-3.15	5.34	5.34	0.76211	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.983;0.997	D	0.97649	1.0153	10	0.87932	D	0	-14.8197	19.0329	0.92965	0.0:0.0:1.0:0.0	.	139;319	G3V1N0;Q92698	.;RAD54_HUMAN	Q	319;319;139	ENSP00000396113:R319Q;ENSP00000361043:R319Q	ENSP00000361043:R319Q	R	+	2	0	RAD54L	46505782	1.000000	0.71417	0.996000	0.52242	0.886000	0.51366	9.524000	0.98036	2.486000	0.83907	0.561000	0.74099	CGG	-	HMMSmart_DEXDc,superfamily_SSF52540,HMMPfam_SNF2_N		0.493	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	protein_coding	OTTHUMT00000021272.1	G	NM_003579		46505782	+1	no_errors	NM_003579	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CYP4A22	284541	genome.wustl.edu	37	1	47603299	47603299	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:47603299C>T	ENST00000371891.3	+	1	173	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.L48F|CYP4A22_ENST00000294337.3_Missense_Mutation_p.L48F|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	48						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTCAAAGCCCTCCAGCAGTT	0.617																																					Pancreas(88;1240 1470 2099 14214 37557)											0			1											74.0	61.0	65.0					1																	47603299		2203	4300	6503	47375886	SO:0001583	missense	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.142C>T	1.37:g.47603299C>T	ENSP00000360958:p.Leu48Phe		47375886	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.L48F	ENST00000371891.3	37	c.142	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	c	4.817	0.151872	0.09185	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.74947	-0.89;-0.58;-0.58	2.47	-3.13	0.05266	.	2.341500	0.01858	N	0.036453	T	0.60405	0.2266	L	0.39397	1.21	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.002;0.004	T	0.30297	-0.9983	10	0.33940	T	0.23	.	1.0741	0.01628	0.1523:0.3114:0.1514:0.385	.	48;48	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	F	48	ENSP00000360957:L48F;ENSP00000360958:L48F;ENSP00000294337:L48F	ENSP00000294337:L48F	L	+	1	0	CYP4A22	47375886	0.000000	0.05858	0.393000	0.26258	0.638000	0.38207	-2.159000	0.01280	-0.251000	0.09542	0.205000	0.17691	CTC	-	NULL		0.617	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	protein_coding	OTTHUMT00000021635.1	C	XM_208213		47375886	+1	no_errors	NM_001010969	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
FAM21A	387680	genome.wustl.edu	37	10	47935538	47935538	+	Silent	SNP	A	A	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr10:47935538A>G	ENST00000358474.5	+	21	2082	c.2082A>G	c.(2080-2082)ttA>ttG	p.L694L		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		694					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATTCTGATTTATTTTCTTCAT	0.368																																																0			10											0.0	1.0	1.0					10																	47935538		0	15	15	47455544	SO:0001819	synonymous_variant	55747																														ENST00000358474.5:c.2082A>G	10.37:g.47935538A>G			47455544		Silent	SNP	NULL	p.L694	ENST00000358474.5	37	c.2082	CCDS44379.1	10																																																																																			-	NULL		0.368	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM21B	protein_coding	OTTHUMT00000047871.2	A			47455544	+1	no_errors	NM_018232	genbank	human	validated	54_36p	silent	SNP	0.997	G
PSG5	5673	genome.wustl.edu	37	19	43679401	43679401	+	Silent	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:43679401C>T	ENST00000366175.3	-	4	1060	c.930G>A	c.(928-930)aaG>aaA	p.K310K	PSG5_ENST00000404580.1_Silent_p.K310K|PSG5_ENST00000342951.6_Silent_p.K310K|PSG5_ENST00000599812.1_Silent_p.K403K|PSG5_ENST00000407356.1_Silent_p.K310K|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	310	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGGAGCTTTCCTTGCCAGTAG	0.463																																																0			19											115.0	141.0	132.0					19																	43679401		2202	4293	6495	48371241	SO:0001819	synonymous_variant	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.930G>A	19.37:g.43679401C>T			48371241	Q15239|Q96QJ1|Q9UQ75	Silent	SNP	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2	p.K310	ENST00000366175.3	37	c.930	CCDS12617.1	19																																																																																			-	superfamily_SSF48726		0.463	PSG5-001	KNOWN	basic|CCDS	protein_coding	PSG5	protein_coding	OTTHUMT00000323055.1	C	NM_002781		48371241	-1	no_errors	NM_002781	genbank	human	validated	54_36p	silent	SNP	0.000	T
FOSB	2354	genome.wustl.edu	37	19	45976226	45976226	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:45976226C>A	ENST00000353609.3	+	4	1565	c.973C>A	c.(973-975)Cag>Aag	p.Q325K	FOSB_ENST00000591858.1_Missense_Mutation_p.Q286K|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000443841.2_Missense_Mutation_p.Q182K|FOSB_ENST00000585836.1_Missense_Mutation_p.Q250K|FOSB_ENST00000586615.1_Missense_Mutation_p.Q276K|FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000417353.2_Missense_Mutation_p.Q289K|FOSB_ENST00000592811.1_3'UTR	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	325					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CGGCAGTGACCAGCCTTCCGA	0.582																																																0			19											92.0	89.0	90.0					19																	45976226		2203	4300	6503	50668066	SO:0001583	missense	2354				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.973C>A	19.37:g.45976226C>A	ENSP00000245919:p.Gln325Lys		50668066	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	PatternScan_SUBTILASE_SER,HMMSmart_SM00338,HMMPfam_bZIP_2,PatternScan_BZIP_BASIC	p.Q325K	ENST00000353609.3	37	c.973	CCDS12664.1	19	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984911	0.93044	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928;ENST00000443841	T;T;T	0.37235	1.21;1.21;1.21	4.89	4.89	0.63831	.	0.249850	0.41194	D	0.000928	T	0.37865	0.1019	L	0.55213	1.73	0.49213	D	0.999764	B;B;B;B;B	0.22683	0.026;0.043;0.073;0.073;0.043	B;B;B;B;B	0.27608	0.081;0.023;0.081;0.081;0.037	T	0.21552	-1.0242	10	0.48119	T	0.1	-14.4541	15.6432	0.77025	0.0:1.0:0.0:0.0	.	182;286;250;289;325	E7EPR6;A8VJF0;A8VJF3;E9PHJ3;P53539	.;.;.;.;FOSB_HUMAN	K	325;289;278;182	ENSP00000245919:Q325K;ENSP00000407207:Q289K;ENSP00000414177:Q182K	ENSP00000245919:Q325K	Q	+	1	0	FOSB	50668066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.344000	0.65981	2.568000	0.86640	0.555000	0.69702	CAG	-	NULL		0.582	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSB	protein_coding	OTTHUMT00000459561.1	C	NM_006732		50668066	+1	no_errors	NM_006732	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
IQSEC2	23096	genome.wustl.edu	37	X	53268469	53268469	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chrX:53268469T>C	ENST00000375368.5	-	10	3193	c.2993A>G	c.(2992-2994)aAa>aGa	p.K998R	IQSEC2_ENST00000375365.2_Missense_Mutation_p.K803R|IQSEC2_ENST00000396435.3_Missense_Mutation_p.K1008R			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	998	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTGGAAAATTTTGGTGACCTT	0.517											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											69.0	65.0	66.0					X																	53268469		2203	4300	6503	53285194	SO:0001583	missense	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2993A>G	X.37:g.53268469T>C	ENSP00000364517:p.Lys998Arg	991	53285194	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,superfamily_SSF50729,HMMSmart_PH	p.K803R	ENST00000375368.5	37	c.2408		X	.	.	.	.	.	.	.	.	.	.	T	27.5	4.838232	0.91117	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.69306	-0.39;-0.39;-0.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.81914	0.995;0.966	D	0.85088	0.0950	10	0.72032	D	0.01	.	13.7408	0.62847	0.0:0.0:0.0:1.0	.	1008;803	Q5JU85-2;Q5JU85-3	.;.	R	1008;998;803	ENSP00000379712:K1008R;ENSP00000364517:K998R;ENSP00000364514:K803R	ENSP00000364514:K803R	K	-	2	0	IQSEC2	53285194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.032000	0.88838	1.888000	0.54679	0.416000	0.27883	AAA	-	superfamily_SSF50729,HMMSmart_PH		0.517	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	protein_coding		T	XM_291345		53285194	-1	no_errors	NM_015075	genbank	human	validated	54_36p	missense	SNP	1.000	C
CACNA2D3	55799	genome.wustl.edu	37	3	54660520	54660520	+	Intron	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:54660520G>T	ENST00000474759.1	+	10	1011				CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GCAGCATGGTGGGCGTCTACA	0.587																																																0			3																																								54635560	SO:0001627	intron_variant	729789			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.964-1294G>T	3.37:g.54660520G>T			54635560	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	HMMPfam_Ribosomal_S19,superfamily_Ribosomal protein S19,PatternScan_RIBOSOMAL_S19	p.V93	ENST00000474759.1	37	c.279	CCDS54598.1	3																																																																																			-	HMMPfam_Ribosomal_S19,superfamily_Ribosomal protein S19		0.587	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC729789	protein_coding	OTTHUMT00000351402.1	G			54635560	+1	pseudogene	XM_001134147	genbank	human	model	54_36p	silent	SNP	1.000	T
KLK1	3816	genome.wustl.edu	37	19	51322538	51322538	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:51322538G>A	ENST00000301420.2	-	5	736	c.701C>T	c.(700-702)cCt>cTt	p.P234L	KLK1_ENST00000448701.2_Missense_Mutation_p.P132L|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	234	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GGTGCCACAAGGGACGTAGCC	0.582																																																0			19											120.0	102.0	108.0					19																	51322538		2203	4300	6503	56014350	SO:0001583	missense	3816			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.701C>T	19.37:g.51322538G>A	ENSP00000301420:p.Pro234Leu		56014350	Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.P234L	ENST00000301420.2	37	c.701	CCDS12804.1	19	.	.	.	.	.	.	.	.	.	.	g	15.50	2.853450	0.51270	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;D	0.88741	-2.42;-2.42	3.66	1.53	0.23141	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90601	0.7053	L	0.52364	1.645	0.19300	N	0.999971	D	0.89917	1.0	D	0.76071	0.987	T	0.79642	-0.1718	9	0.59425	D	0.04	.	5.6509	0.17616	0.2498:0.0:0.7502:0.0	.	234	P06870	KLK1_HUMAN	L	234;132	ENSP00000301420:P234L;ENSP00000400994:P132L	ENSP00000301420:P234L	P	-	2	0	KLK1	56014350	0.587000	0.26791	0.012000	0.15200	0.023000	0.10783	3.133000	0.50531	0.529000	0.28599	0.561000	0.74099	CCT	-	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin		0.582	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK1	protein_coding	OTTHUMT00000464135.2	G	NM_002257		56014350	-1	no_errors	NM_002257	genbank	human	reviewed	54_36p	missense	SNP	0.034	A
CNOT1	23019	genome.wustl.edu	37	16	58589155	58589155	+	Splice_Site	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr16:58589155C>G	ENST00000317147.5	-	21	3223	c.2891G>C	c.(2890-2892)aGa>aCa	p.R964T	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Splice_Site_p.R964T|CNOT1_ENST00000569240.1_Splice_Site_p.R959T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	964	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCCACTTACCTGTTTTTAAA	0.473																																																0			16											73.0	73.0	73.0					16																	58589155		2198	4300	6498	57146656	SO:0001630	splice_region_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2891+1G>C	16.37:g.58589155C>G			57146656	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	HMMPfam_Not1,PatternScan_LECTIN_LEGUME_BETA	p.R964T	ENST00000317147.5	37	c.2891	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.186638	0.94885	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.61274	0.27;0.12	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81230	0.4779	M	0.89353	3.025	0.80722	D	1	D;D;D	0.76494	0.981;0.999;0.999	D;D;D	0.76071	0.962;0.922;0.987	T	0.82524	-0.0414	9	.	.	.	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	964;964;959	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	T	964;393;959;964	ENSP00000320949:R964T;ENSP00000413113:R964T	.	R	-	2	0	CNOT1	57146656	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	AGA	-	NULL		0.473	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	protein_coding	OTTHUMT00000257385.3	C	NM_016284	Missense_Mutation	57146656	-1	no_errors	NM_016284	genbank	human	validated	54_36p	missense	SNP	1.000	G
TCN1	6947	genome.wustl.edu	37	11	59626726	59626726	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:59626726C>T	ENST00000257264.3	-	5	675	c.571G>A	c.(571-573)Gct>Act	p.A191T	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	191	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCAGGACAGCCATTGCACCA	0.448																																																0			11											151.0	134.0	140.0					11																	59626726		2201	4295	6496	59383302	SO:0001583	missense	6947			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.571G>A	11.37:g.59626726C>T	ENSP00000257264:p.Ala191Thr		59383302	A8KAC5|Q8WV77	Missense_Mutation	SNP	HMMPfam_Cobalamin_bind,PatternScan_ABC_TRANSPORTER_1,PatternScan_COBALAMIN_BINDING	p.A191T	ENST00000257264.3	37	c.571	CCDS7978.1	11	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077297	0.76415	.	.	ENSG00000134827	ENST00000257264	T	0.55760	0.5	4.92	3.99	0.46301	.	0.114022	0.37261	N	0.002177	T	0.70596	0.3242	M	0.80746	2.51	0.28555	N	0.911429	D	0.89917	1.0	D	0.97110	1.0	T	0.66160	-0.5993	10	0.62326	D	0.03	.	9.9111	0.41406	0.0:0.9028:0.0:0.0972	.	191	P20061	TCO1_HUMAN	T	191	ENSP00000257264:A191T	ENSP00000257264:A191T	A	-	1	0	TCN1	59383302	0.999000	0.42202	0.961000	0.40146	0.825000	0.46686	1.605000	0.36815	1.182000	0.42928	0.650000	0.86243	GCT	-	HMMPfam_Cobalamin_bind,PatternScan_COBALAMIN_BINDING		0.448	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCN1	protein_coding	OTTHUMT00000394503.1	C	NM_001062		59383302	-1	no_errors	NM_001062	genbank	human	reviewed	54_36p	missense	SNP	0.800	T
MS4A8	83661	genome.wustl.edu	37	11	60470888	60470888	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:60470888T>G	ENST00000300226.2	+	3	460	c.257T>G	c.(256-258)cTc>cGc	p.L86R		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	86						integral component of membrane (GO:0016021)											CACATCGGCCTCGGCTCCATC	0.552																																																0			11											130.0	118.0	122.0					11																	60470888		2203	4300	6503	60227464	SO:0001583	missense	83661			AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.257T>G	11.37:g.60470888T>G	ENSP00000300226:p.Leu86Arg		60227464	Q8TCA5	Missense_Mutation	SNP	HMMPfam_CD20	p.L86R	ENST00000300226.2	37	c.257	CCDS7990.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.63|12.63	1.994410|1.994410	0.35226|0.35226	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000300226;ENST00000529752|ENST00000525458	T;T|.	0.03920|.	3.76;3.76|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.699661|.	0.14036|.	N|.	0.345746|.	T|T	0.73079|0.73079	0.3541|0.3541	M|M	0.83852|0.83852	2.665|2.665	0.39289|0.39289	D|D	0.964705|0.964705	D;D|.	0.76494|.	0.999;0.997|.	D;D|.	0.75020|.	0.985;0.964|.	T|T	0.75892|0.75892	-0.3157|-0.3157	10|5	0.72032|.	D|.	0.01|.	-4.6775|-4.6775	8.9088|8.9088	0.35541|0.35541	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	86;86|.	E9PQE1;Q9BY19|.	.;M4A8B_HUMAN|.	R|A	86|68	ENSP00000300226:L86R;ENSP00000436857:L86R|.	ENSP00000300226:L86R|.	L|S	+|+	2|1	0|0	MS4A8B|MS4A8B	60227464|60227464	0.027000|0.027000	0.19231|0.19231	0.883000|0.883000	0.34634|0.34634	0.079000|0.079000	0.17450|0.17450	3.006000|3.006000	0.49529|0.49529	1.425000|1.425000	0.47237|0.47237	0.402000|0.402000	0.26972|0.26972	CTC|TCG	-	HMMPfam_CD20		0.552	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A8B	protein_coding	OTTHUMT00000395605.1	T			60227464	+1	no_errors	NM_031457	genbank	human	reviewed	54_36p	missense	SNP	0.583	G
CHD7	55636	genome.wustl.edu	37	8	61714136	61714136	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr8:61714136G>A	ENST00000423902.2	+	6	2905	c.2426G>A	c.(2425-2427)cGt>cAt	p.R809H	CHD7_ENST00000525508.1_Missense_Mutation_p.R809H|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	809	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATGAGCAGTCGTTCAGTAAAA	0.363																																																1	Insertion - In frame(1)	lung(1)	8											67.0	60.0	62.0					8																	61714136		1831	4077	5908	61876690	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2426G>A	8.37:g.61714136G>A	ENSP00000392028:p.Arg809His		61876690	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592	p.R809H	ENST00000423902.2	37	c.2426	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979148	0.92982	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	T;T	0.78816	-1.21;-1.21	6.17	6.17	0.99709	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91392	0.5136	10	0.87932	D	0	-11.5809	20.8794	0.99867	0.0:0.0:1.0:0.0	.	809	Q9P2D1	CHD7_HUMAN	H	809	ENSP00000392028:R809H;ENSP00000436027:R809H	ENSP00000307304:R809H	R	+	2	0	CHD7	61876690	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.571000	0.90752	2.941000	0.99782	0.655000	0.94253	CGT	-	superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo		0.363	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61876690	+1	no_errors	NM_017780	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZNF772	400720	genome.wustl.edu	37	19	57988650	57988650	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr19:57988650C>T	ENST00000343280.4	-	1	288	c.28G>A	c.(28-30)Gca>Aca	p.A10T	ZNF772_ENST00000601768.1_Missense_Mutation_p.A10T|ZNF772_ENST00000600175.1_Missense_Mutation_p.A10T|ZNF772_ENST00000356584.3_Missense_Mutation_p.A10T|AC003005.2_ENST00000595422.1_lincRNA|AC004076.9_ENST00000596831.1_Missense_Mutation_p.A10T|ZNF772_ENST00000427512.2_5'UTR|AC004076.9_ENST00000415705.3_5'UTR|ZNF772_ENST00000425074.3_Missense_Mutation_p.A10T	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		CCCACCTGTGCCGGGCCCATC	0.647											OREG0025695	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(5;289 436 14293 15924 30817)											0			19											63.0	81.0	75.0					19																	57988650		2203	4300	6503	62680462	SO:0001583	missense	400720			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.28G>A	19.37:g.57988650C>T	ENSP00000341165:p.Ala10Thr	1027	62680462	A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.A10T	ENST00000343280.4	37	c.28	CCDS33133.1	19	.	.	.	.	.	.	.	.	.	.	C	9.319	1.057464	0.19907	.	.	ENSG00000197128	ENST00000343280;ENST00000319969;ENST00000356584;ENST00000415705	T;T	0.05649	3.41;3.41	2.2	1.11	0.20524	.	.	.	.	.	T	0.07683	0.0193	L	0.38838	1.175	0.09310	N	1	P;P	0.51933	0.949;0.949	P;P	0.51657	0.676;0.676	T	0.33548	-0.9864	9	0.16420	T	0.52	.	5.9559	0.19273	0.309:0.691:0.0:0.0	.	10;10	A6NJK9;Q68DY9	.;ZN772_HUMAN	T	10	ENSP00000341165:A10T;ENSP00000348992:A10T	ENSP00000321015:A10T	A	-	1	0	ZNF772	62680462	0.100000	0.21855	0.553000	0.28255	0.046000	0.14306	0.114000	0.15520	0.475000	0.27415	-0.518000	0.04402	GCA	-	NULL		0.647	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	protein_coding	OTTHUMT00000397447.1	C	NM_001024596		62680462	-1	no_errors	NM_001024596	genbank	human	validated	54_36p	missense	SNP	0.418	T
SLC22A9	114571	genome.wustl.edu	37	11	63137904	63137904	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:63137904T>A	ENST00000279178.3	+	1	625	c.376T>A	c.(376-378)Tcc>Acc	p.S126T	SLC22A9_ENST00000310969.4_Missense_Mutation_p.S126T	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	126					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGACAGAATCTCCTTCTCATC	0.493																																																0			11											117.0	98.0	105.0					11																	63137904		2201	4298	6499	62894480	SO:0001583	missense	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.376T>A	11.37:g.63137904T>A	ENSP00000279178:p.Ser126Thr		62894480	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_MFS_1	p.S126T	ENST00000279178.3	37	c.376	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	T	0.425	-0.906381	0.02453	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.75260	-0.92;-0.92	3.48	-5.08	0.02929	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.299750	0.05156	N	0.496870	T	0.59891	0.2227	L	0.38649	1.16	0.09310	N	1	B	0.19331	0.035	B	0.28305	0.088	T	0.45454	-0.9260	10	0.12430	T	0.62	.	6.7808	0.23643	0.6749:0.0:0.1322:0.1929	.	126	Q8IVM8	S22A9_HUMAN	T	126	ENSP00000311527:S126T;ENSP00000279178:S126T	ENSP00000279178:S126T	S	+	1	0	SLC22A9	62894480	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-1.926000	0.01562	-0.688000	0.05155	0.113000	0.15668	TCC	-	superfamily_MFS general substrate transporter		0.493	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	protein_coding	OTTHUMT00000396371.1	T	NM_080866		62894480	+1	no_errors	NM_080866	genbank	human	validated	54_36p	missense	SNP	0.000	A
SYNE2	23224	genome.wustl.edu	37	14	64689991	64689991	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr14:64689991G>A	ENST00000344113.4	+	112	20418	c.20206G>A	c.(20206-20208)Gga>Aga	p.G6736R	SYNE2_ENST00000358025.3_Missense_Mutation_p.G6759R|SYNE2_ENST00000554805.1_Missense_Mutation_p.G519R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.G3121R|SYNE2_ENST00000555022.1_Missense_Mutation_p.G614R|SYNE2_ENST00000394768.2_Missense_Mutation_p.G3121R|SYNE2_ENST00000554584.1_Missense_Mutation_p.G6652R|SYNE2_ENST00000555002.1_Missense_Mutation_p.G3393R|SYNE2_ENST00000441438.2_Missense_Mutation_p.G281R|SYNE2_ENST00000458046.2_Missense_Mutation_p.G407R	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6736					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAGGGACATGGAGAAGACTG	0.428																																																0			14											101.0	97.0	98.0					14																	64689991		2203	4300	6503	63759744	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20206G>A	14.37:g.64689991G>A	ENSP00000341781:p.Gly6736Arg		63759744	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH	p.G6759R	ENST00000344113.4	37	c.20275	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	8.328	0.825929	0.16749	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.83	3.0	0.34707	.	0.271361	0.25383	N	0.031064	T	0.53158	0.1779	M	0.64080	1.96	0.80722	D	1	P;D;P;P;B;B;D;D	0.63046	0.916;0.987;0.914;0.468;0.377;0.145;0.969;0.992	B;D;P;B;B;B;P;D	0.66847	0.263;0.945;0.449;0.323;0.347;0.062;0.823;0.947	T	0.55321	-0.8159	10	0.72032	D	0.01	.	11.8228	0.52250	0.1936:0.0:0.8064:0.0	.	393;3121;281;407;1138;6652;6736;6759	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	R	6759;3121;6736;6652;6658;3393;3121;614;519;407;281	ENSP00000350719:G6759R;ENSP00000349969:G3121R;ENSP00000341781:G6736R;ENSP00000452570:G6652R;ENSP00000450831:G3393R;ENSP00000378249:G3121R;ENSP00000451009:G614R;ENSP00000450605:G519R;ENSP00000391937:G407R;ENSP00000396794:G281R	ENSP00000261678:G6658R	G	+	1	0	SYNE2	63759744	0.996000	0.38824	0.147000	0.22382	0.073000	0.16967	2.334000	0.43920	0.817000	0.34445	0.655000	0.94253	GGA	-	superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	G	NM_182914		63759744	+1	no_errors	NM_182914	genbank	human	validated	54_36p	missense	SNP	0.582	A
TET1	80312	genome.wustl.edu	37	10	70442637	70442637	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr10:70442637G>A	ENST00000373644.4	+	10	5168	c.4959G>A	c.(4957-4959)aaG>aaA	p.K1653K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1653					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTGGCAGCAAGGAAGGTCGTC	0.473																																																0			10											126.0	112.0	117.0					10																	70442637		2203	4300	6503	70112643	SO:0001819	synonymous_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4959G>A	10.37:g.70442637G>A			70112643	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	HMMPfam_zf-CXXC	p.K1653	ENST00000373644.4	37	c.4959	CCDS7281.1	10																																																																																			-	NULL		0.473	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	G	NM_030625		70112643	+1	no_errors	NM_030625	genbank	human	validated	54_36p	silent	SNP	1.000	A
HKDC1	80201	genome.wustl.edu	37	10	71026381	71026381	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr10:71026381G>A	ENST00000354624.5	+	18	2755	c.2622G>A	c.(2620-2622)ttG>ttA	p.L874L	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	874	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTAGAATATTGCAGGAAACTG	0.403																																																0			10											127.0	123.0	124.0					10																	71026381		2203	4300	6503	70696387	SO:0001819	synonymous_variant	80201				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2622G>A	10.37:g.71026381G>A			70696387	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES	p.L874	ENST00000354624.5	37	c.2622	CCDS7288.1	10																																																																																			-	HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain		0.403	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	protein_coding	OTTHUMT00000048389.1	G	NM_025130		70696387	+1	no_errors	NM_025130	genbank	human	validated	54_36p	silent	SNP	0.993	A
IQGAP2	10788	genome.wustl.edu	37	5	75998404	75998404	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:75998404C>G	ENST00000274364.6	+	35	4900	c.4603C>G	c.(4603-4605)Ctc>Gtc	p.L1535V	IQGAP2_ENST00000379730.3_Missense_Mutation_p.L1037V|IQGAP2_ENST00000502745.1_Missense_Mutation_p.L1031V|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000396234.3_Missense_Mutation_p.L1031V|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1535					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAAGGTGCAACTCAATATTCA	0.368																																																0			5											112.0	108.0	109.0					5																	75998404		2203	4300	6503	76034160	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4603C>G	5.37:g.75998404C>G	ENSP00000274364:p.Leu1535Val		76034160	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,PatternScan_WW_DOMAIN_1,HMMSmart_SM00015,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_GTPase activation domain GAP,HMMSmart_SM00323,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C	p.L1535V	ENST00000274364.6	37	c.4603	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612643	0.66672	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745	T;T;T;T	0.03889	3.89;3.78;3.77;3.78	5.41	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	L	0.45698	1.435	0.80722	D	1	D;D;P	0.53885	0.963;0.963;0.571	P;P;B	0.59487	0.858;0.858;0.408	T	0.17077	-1.0381	10	0.21014	T	0.42	-8.4459	15.2218	0.73316	0.1494:0.8506:0.0:0.0	.	1037;1031;1535	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	V	1535;1037;1031;1031	ENSP00000274364:L1535V;ENSP00000442313:L1037V;ENSP00000379535:L1031V;ENSP00000426027:L1031V	ENSP00000274364:L1535V	L	+	1	0	IQGAP2	76034160	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.279000	0.51670	1.250000	0.43966	0.655000	0.94253	CTC	-	NULL		0.368	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	protein_coding	OTTHUMT00000368877.1	C	NM_006633		76034160	+1	no_errors	NM_006633	genbank	human	validated	54_36p	missense	SNP	1.000	G
CPSF2	53981	genome.wustl.edu	37	14	92600683	92600683	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr14:92600683G>A	ENST00000298875.4	+	5	684	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	133					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATTCTCTCAGATTGTGAATT	0.328																																					Ovarian(78;28 1788 18702 44111)											0			14											60.0	57.0	58.0					14																	92600683		2201	4299	6500	91670436	SO:0001819	synonymous_variant	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.399G>A	14.37:g.92600683G>A			91670436	B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B,HMMPfam_RMMBL	p.Q133	ENST00000298875.4	37	c.399	CCDS9902.1	14																																																																																			-	superfamily_Metallo-hydrolase/oxidoreductase		0.328	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	protein_coding	OTTHUMT00000412123.1	G			91670436	+1	no_errors	NM_017437	genbank	human	validated	54_36p	silent	SNP	1.000	A
TM9SF2	9375	genome.wustl.edu	37	13	100181837	100181837	+	Silent	SNP	T	T	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr13:100181837T>C	ENST00000376387.4	+	4	640	c.450T>C	c.(448-450)taT>taC	p.Y150Y	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	150					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TATTGAATTATCAACATCACT	0.308																																																0			13											97.0	101.0	99.0					13																	100181837		2202	4294	6496	98979838	SO:0001819	synonymous_variant	9375			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.450T>C	13.37:g.100181837T>C			98979838	A8K399|Q2TAY5	Silent	SNP	HMMPfam_EMP70	p.Y150	ENST00000376387.4	37	c.450	CCDS9493.1	13																																																																																			-	HMMPfam_EMP70		0.308	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	protein_coding	OTTHUMT00000045602.3	T			98979838	+1	no_errors	NM_004800	genbank	human	provisional	54_36p	silent	SNP	1.000	C
ZIC5	85416	genome.wustl.edu	37	13	100617732	100617732	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr13:100617732C>T	ENST00000267294.4	-	2	2124	c.1891G>A	c.(1891-1893)Gcc>Acc	p.A631T		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	631					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGCTGGGGGCCCCACTGGCC	0.582																																																0			13											78.0	76.0	77.0					13																	100617732		2203	4300	6503	99415733	SO:0001583	missense	85416			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1891G>A	13.37:g.100617732C>T	ENSP00000267294:p.Ala631Thr		99415733	Q5VYB0	Missense_Mutation	SNP	HMMSmart_SM00355,HMMPfam_zf-C2H2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1	p.A631T	ENST00000267294.4	37	c.1891	CCDS9494.2	13	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619779	0.66787	.	.	ENSG00000139800	ENST00000267294	T	0.11712	2.75	6.06	5.21	0.72293	.	.	.	.	.	T	0.12305	0.0299	L	0.46157	1.445	0.39813	D	0.972736	B	0.22346	0.068	B	0.18561	0.022	T	0.03043	-1.1079	9	0.46703	T	0.11	.	14.4763	0.67548	0.0:0.9295:0.0:0.0705	.	631	Q96T25	ZIC5_HUMAN	T	631	ENSP00000267294:A631T	ENSP00000267294:A631T	A	-	1	0	ZIC5	99415733	0.841000	0.29509	1.000000	0.80357	0.985000	0.73830	1.863000	0.39459	2.871000	0.98454	0.655000	0.94253	GCC	-	NULL		0.582	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	protein_coding	OTTHUMT00000045623.3	C	NM_033132		99415733	-1	no_errors	NM_033132	genbank	human	validated	54_36p	missense	SNP	1.000	T
ZNF3	7551	genome.wustl.edu	37	7	99669552	99669552	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr7:99669552G>A	ENST00000424697.1	-	6	861	c.555C>T	c.(553-555)tcC>tcT	p.S185S	ZNF3_ENST00000299667.4_Silent_p.S185S|ZNF3_ENST00000303915.6_Silent_p.S185S|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	185					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGATAAGGTTGGAATTCACAG	0.448																																																0			7											110.0	113.0	112.0					7																	99669552		2017	4211	6228	99507488	SO:0001819	synonymous_variant	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.555C>T	7.37:g.99669552G>A			99507488	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.S185	ENST00000424697.1	37	c.555	CCDS43619.1	7																																																																																			-	superfamily_SSF57667		0.448	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF3	protein_coding	OTTHUMT00000336247.3	G	NM_017715		99507488	-1	no_errors	NM_032924	genbank	human	validated	54_36p	silent	SNP	0.008	A
RNF19A	25897	genome.wustl.edu	37	8	101300147	101300147	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr8:101300147C>A	ENST00000519449.1	-	3	572	c.256G>T	c.(256-258)Ggc>Tgc	p.G86C	RNF19A_ENST00000341084.2_Missense_Mutation_p.G86C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	86					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCCACCCCGCCATTTAGCTCC	0.378																																																0			8											144.0	138.0	140.0					8																	101300147		2203	4300	6503	101369323	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.256G>T	8.37:g.101300147C>A	ENSP00000428968:p.Gly86Cys		101369323	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_IBR,HMMSmart_SM00647	p.G86C	ENST00000519449.1	37	c.256	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068811	0.55539	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167;ENST00000522369;ENST00000432381;ENST00000517584	D;D	0.84442	-1.85;-1.85	5.57	4.68	0.58851	.	0.296018	0.36628	N	0.002491	T	0.77103	0.4081	L	0.27053	0.805	0.46222	D	0.998935	P	0.50369	0.934	B	0.40901	0.343	T	0.81320	-0.0986	10	0.72032	D	0.01	.	13.8459	0.63468	0.0:0.9272:0.0:0.0728	.	86	Q9NV58	RN19A_HUMAN	C	86;86;86;86;86;86;55	ENSP00000428968:G86C;ENSP00000342667:G86C	ENSP00000342667:G86C	G	-	1	0	RNF19A	101369323	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.063000	0.57499	2.606000	0.88127	0.650000	0.86243	GGC	-	NULL		0.378	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	protein_coding	OTTHUMT00000380004.1	C	NM_015435		101369323	-1	no_errors	NM_015435	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SUFU	51684	genome.wustl.edu	37	10	104359295	104359295	+	Missense_Mutation	SNP	G	G	C	rs369910221		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr10:104359295G>C	ENST00000369902.3	+	8	1182	c.1016G>C	c.(1015-1017)cGg>cCg	p.R339P	SUFU_ENST00000369899.2_Missense_Mutation_p.R339P|SUFU_ENST00000423559.2_Missense_Mutation_p.R339P|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	339					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCCCACGACCGGGCCCCGTAA	0.572			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0			10											60.0	58.0	59.0					10																	104359295		2203	4300	6503	104349285	SO:0001583	missense	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1016G>C	10.37:g.104359295G>C	ENSP00000358918:p.Arg339Pro		104349285	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	superfamily_Suppressor of Fused N-terminal domain,HMMPfam_SUFU	p.R339P	ENST00000369902.3	37	c.1016	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.228538	0.95173	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.65916	-0.16;-0.17;-0.18	6.07	6.07	0.98685	Suppressor of fused C-terminal (1);	0.052063	0.85682	D	0.000000	T	0.76912	0.4054	L	0.51422	1.61	0.58432	D	0.999998	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.87578	0.995;0.991;0.998	T	0.74529	-0.3635	10	0.51188	T	0.08	-23.3813	20.6439	0.99570	0.0:0.0:1.0:0.0	.	339;339;339	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	P	339	ENSP00000358918:R339P;ENSP00000358915:R339P;ENSP00000411597:R339P	ENSP00000358915:R339P	R	+	2	0	SUFU	104349285	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.281000	0.95811	2.884000	0.98904	0.655000	0.94253	CGG	-	HMMPfam_SUFU		0.572	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	protein_coding	OTTHUMT00000050089.1	G	NM_016169		104349285	+1	no_errors	NM_016169	genbank	human	provisional	54_36p	missense	SNP	1.000	C
CD2	914	genome.wustl.edu	37	1	117311361	117311361	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:117311361C>T	ENST00000369478.3	+	5	1120	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	338	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GCCAAAACCTCCCCATGGGGC	0.517																																					NSCLC(14;263 555 26380 43512 51332)											0			1											71.0	80.0	77.0					1																	117311361		2203	4300	6503	117112884	SO:0001583	missense	914			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.1012C>T	1.37:g.117311361C>T	ENSP00000358490:p.Pro338Ser		117112884	Q96TE5	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMPfam_C2-set	p.P338S	ENST00000369478.3	37	c.1012	CCDS889.1	1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061318	0.55432	.	.	ENSG00000116824	ENST00000369478	D	0.83506	-1.73	5.25	4.34	0.51931	.	0.187079	0.35096	N	0.003445	T	0.78799	0.4340	M	0.66939	2.045	0.32787	N	0.5017	D	0.62365	0.991	P	0.50440	0.641	T	0.80654	-0.1286	10	0.72032	D	0.01	-11.4434	9.9363	0.41552	0.0:0.9081:0.0:0.0919	.	338	P06729	CD2_HUMAN	S	338	ENSP00000358490:P338S	ENSP00000358490:P338S	P	+	1	0	CD2	117112884	0.079000	0.21365	0.075000	0.20258	0.646000	0.38490	1.154000	0.31688	1.587000	0.49959	0.655000	0.94253	CCC	-	NULL		0.517	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2	protein_coding	OTTHUMT00000059039.2	C	NM_001767		117112884	+1	no_errors	NM_001767	genbank	human	validated	54_36p	missense	SNP	0.083	T
KMT2A	4297	genome.wustl.edu	37	11	118345001	118345001	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:118345001C>G	ENST00000389506.5	+	3	3127	c.3127C>G	c.(3127-3129)Ctt>Gtt	p.L1043V	KMT2A_ENST00000354520.4_Missense_Mutation_p.L1043V|KMT2A_ENST00000534358.1_Missense_Mutation_p.L1043V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1043					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAGTAAGAGTCTTAAACAAAC	0.453																																																0			11											65.0	65.0	65.0					11																	118345001		2200	4296	6496	117850211	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3127C>G	11.37:g.118345001C>G	ENSP00000374157:p.Leu1043Val		117850211	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_RECR,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_FYRN,HMMSmart_SM00541,PatternScan_EF_HAND_1,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508	p.L1043V	ENST00000389506.5	37	c.3127	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806698	0.50421	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000527869;ENST00000533790;ENST00000389507	D;T;D;D	0.86030	-2.05;1.42;-2.06;-2.05	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	D	0.90559	0.7041	L	0.59436	1.845	0.58432	D	0.999995	D;D;D	0.76494	0.983;0.999;0.983	D;P;D	0.63381	0.914;0.883;0.914	D	0.90589	0.4535	10	0.56958	D	0.05	.	19.4359	0.94794	0.0:1.0:0.0:0.0	.	1043;1043;1076	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	V	1043;1076;1043;1043;154;121;63	ENSP00000436786:L1043V;ENSP00000432391:L1076V;ENSP00000374157:L1043V;ENSP00000346516:L1043V	ENSP00000346516:L1043V	L	+	1	0	MLL	117850211	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.908000	0.56355	2.588000	0.87417	0.591000	0.81541	CTT	-	NULL		0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	protein_coding	OTTHUMT00000399085.2	C	NM_005933		117850211	+1	no_errors	NM_005933	genbank	human	validated	54_36p	missense	SNP	1.000	G
COL14A1	7373	genome.wustl.edu	37	8	121259883	121259883	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr8:121259883G>A	ENST00000297848.3	+	21	2781	c.2511G>A	c.(2509-2511)gtG>gtA	p.V837V	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.V742V|COL14A1_ENST00000309791.4_Silent_p.V837V	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACTTGCGGGTGTCCGAGGAAT	0.478																																																0			8											82.0	72.0	75.0					8																	121259883		2203	4300	6503	121329064	SO:0001819	synonymous_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2511G>A	8.37:g.121259883G>A			121329064		Silent	SNP	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen	p.V837	ENST00000297848.3	37	c.2511	CCDS34938.1	8																																																																																			-	HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060		0.478	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	protein_coding	OTTHUMT00000313657.2	G	NM_021110		121329064	+1	no_errors	NM_021110	genbank	human	validated	54_36p	silent	SNP	0.842	A
PTPRZ1	5803	genome.wustl.edu	37	7	121637979	121637979	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr7:121637979C>A	ENST00000393386.2	+	10	1570	c.1159C>A	c.(1159-1161)Cag>Aag	p.Q387K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q387K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	387	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTATGTTCTTCAGATAGTAGC	0.363																																																0			7											84.0	80.0	81.0					7																	121637979		2203	4300	6503	121425215	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1159C>A	7.37:g.121637979C>A	ENSP00000377047:p.Gln387Lys		121425215	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,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.Q387K	ENST00000393386.2	37	c.1159	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920100	0.73098	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.69040	-0.37;-0.37	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.74344	0.3704	L	0.27053	0.805	0.46113	D	0.998874	D;D	0.76494	0.999;0.997	D;D	0.81914	0.995;0.987	T	0.77264	-0.2652	10	0.72032	D	0.01	.	19.4158	0.94697	0.0:1.0:0.0:0.0	.	387;387	C9JFM0;P23471	.;PTPRZ_HUMAN	K	387	ENSP00000377047:Q387K;ENSP00000410000:Q387K	ENSP00000377047:Q387K	Q	+	1	0	PTPRZ1	121425215	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.294000	0.78760	2.598000	0.87819	0.585000	0.79938	CAG	-	superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	C	NM_002851		121425215	+1	no_errors	NM_002851	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GLI2	2736	genome.wustl.edu	37	2	121747795	121747795	+	Silent	SNP	C	C	T	rs140565050	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:121747795C>T	ENST00000452319.1	+	14	4365	c.4305C>T	c.(4303-4305)gaC>gaT	p.D1435D	GLI2_ENST00000361492.4_Silent_p.D1435D|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCCGCAGGACGCAGGTGGGG	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		17643	0.002		0.0	False		,,,				2504	0.0															0			2						C		0,4406		0,0,2203	40.0	45.0	43.0		4305	-1.3	0.0	2	dbSNP_134	43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GLI2	NM_005270.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1435/1587	121747795	3,13003	2203	4300	6503	121464265	SO:0001819	synonymous_variant	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4305C>T	2.37:g.121747795C>T			121464265		Silent	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.D1435	ENST00000452319.1	37	c.4305	CCDS33283.1	2																																																																																			-	NULL		0.647	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	protein_coding	OTTHUMT00000332293.3	C	NM_005270		121464265	+1	no_errors	NM_005270	genbank	human	reviewed	54_36p	silent	SNP	0.049	T
SNCAIP	9627	genome.wustl.edu	37	5	121759168	121759168	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:121759168G>T	ENST00000261368.8	+	4	998	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	SNCAIP_ENST00000261367.7_Missense_Mutation_p.G293C|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G246C|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G293C|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.G293C	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	246					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGTTAAATGTGGCTCTGCATA	0.463																																																0			5											62.0	63.0	63.0					5																	121759168		2203	4300	6503	121787067	SO:0001583	missense	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.736G>T	5.37:g.121759168G>T	ENSP00000261368:p.Gly246Cys		121787067	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK	p.G246C	ENST00000261368.8	37	c.736	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648708	0.47258	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.15603	4.72;2.48;2.41;4.72;2.41;4.18	6.02	2.89	0.33648	.	0.439987	0.27912	N	0.017355	T	0.23451	0.0567	L	0.27053	0.805	0.39711	D	0.971328	P;D;D;D	0.71674	0.942;0.998;0.994;0.983	P;D;P;P	0.64595	0.579;0.927;0.789;0.65	T	0.02208	-1.1195	9	.	.	.	-9.3281	11.5599	0.50769	0.2793:0.0:0.7207:0.0	.	246;293;293;246	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	C	246;246;293;246;293;293	ENSP00000422106:G246C;ENSP00000261368:G246C;ENSP00000368848:G293C;ENSP00000368851:G246C;ENSP00000261367:G293C;ENSP00000423199:G293C	.	G	+	1	0	SNCAIP	121787067	1.000000	0.71417	0.112000	0.21494	0.952000	0.60782	1.755000	0.38379	0.897000	0.36392	-0.136000	0.14681	GGC	-	NULL		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	protein_coding	OTTHUMT00000250888.1	G			121787067	+1	no_errors	NM_005460	genbank	human	reviewed	54_36p	missense	SNP	0.851	T
KIAA1109	84162	genome.wustl.edu	37	4	123207820	123207820	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr4:123207820G>C	ENST00000264501.4	+	53	9535	c.9162G>C	c.(9160-9162)atG>atC	p.M3054I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.M3054I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M3054I			Q2LD37	K1109_HUMAN	KIAA1109	3054					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTGTTACCATGTCAGGGAAAT	0.398																																																0			4											145.0	136.0	139.0					4																	123207820		1891	4122	6013	123427270	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9162G>C	4.37:g.123207820G>C	ENSP00000264501:p.Met3054Ile		123427270	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	PatternScan_ASP_PROTEASE,HMMPfam_FSA_C	p.M3054I	ENST00000264501.4	37	c.9162	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.246527|4.246527	0.80024|0.80024	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.21361|.	2.59;2.59;2.01|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59390|0.59390	0.2190|0.2190	L|L	0.29908|0.29908	0.895|0.895	0.53688|0.53688	D|D	0.999973|0.999973	P;P|.	0.45126|.	0.656;0.851|.	P;P|.	0.58391|.	0.679;0.838|.	T|T	0.52548|0.52548	-0.8561|-0.8561	10|5	0.30078|.	T|.	0.28|.	.|.	19.6736|19.6736	0.95921|0.95921	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3054;3054|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	I|L	3054|1012	ENSP00000264501:M3054I;ENSP00000373390:M3054I;ENSP00000389925:M3054I|.	ENSP00000264501:M3054I|.	M|V	+|+	3|1	0|0	KIAA1109|KIAA1109	123427270|123427270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.320000|9.320000	0.96346|0.96346	2.660000|2.660000	0.90430|0.90430	0.650000|0.650000	0.86243|0.86243	ATG|GTC	-	NULL		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	G	NM_020797		123427270	+1	no_errors	NM_015312	genbank	human	validated	54_36p	missense	SNP	1.000	C
TNPO3	23534	genome.wustl.edu	37	7	128619104	128619104	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr7:128619104C>A	ENST00000265388.5	-	16	2137	c.1994G>T	c.(1993-1995)tGc>tTc	p.C665F	TNPO3_ENST00000471166.1_Missense_Mutation_p.C699F|TNPO3_ENST00000471234.1_Missense_Mutation_p.C601F|TNPO3_ENST00000393245.1_Missense_Mutation_p.C699F|TNPO3_ENST00000482320.1_Missense_Mutation_p.C599F			Q9Y5L0	TNPO3_HUMAN	transportin 3	665					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAAGCGCAGGCACCTGCAACA	0.493																																					Pancreas(147;583 2585 39696 52331)											0			7											150.0	139.0	143.0					7																	128619104		2203	4300	6503	128406340	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.1994G>T	7.37:g.128619104C>A	ENSP00000265388:p.Cys665Phe		128406340	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_Xpo1	p.C665F	ENST00000265388.5	37	c.1994	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754843	0.89843	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.68479	-0.2;-0.2;-0.2;-0.33;-0.2	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.996	D;D;D;D	0.73380	0.956;0.959;0.98;0.939	T	0.73668	-0.3910	10	0.36615	T	0.2	.	17.6404	0.88135	0.0:1.0:0.0:0.0	.	601;699;665;665	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	F	699;665;599;601;699	ENSP00000376936:C699F;ENSP00000265388:C665F;ENSP00000420089:C599F;ENSP00000418646:C601F;ENSP00000418267:C699F	ENSP00000265388:C665F	C	-	2	0	TNPO3	128406340	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.571000	0.82399	2.779000	0.95612	0.591000	0.81541	TGC	-	superfamily_ARM repeat		0.493	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	protein_coding	OTTHUMT00000350929.1	C	NM_012470		128406340	-1	no_errors	NM_012470	genbank	human	validated	54_36p	missense	SNP	1.000	A
GARNL3	84253	genome.wustl.edu	37	9	130155492	130155492	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr9:130155492C>G	ENST00000373387.4	+	28	3353	c.3001C>G	c.(3001-3003)Ctc>Gtc	p.L1001V	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.L979V	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	1001					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.L983I(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CCCCTTCCAGCTCACGGCTTT	0.507																																																1	Substitution - Missense(1)	large_intestine(1)	9											64.0	73.0	70.0					9																	130155492		2203	4300	6503	129195313	SO:0001583	missense	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.3001C>G	9.37:g.130155492C>G	ENSP00000362485:p.Leu1001Val		129195313	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,HMMSmart_SM00036,HMMPfam_CNH	p.L983V	ENST00000373387.4	37	c.2947	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957129	0.34565	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.90069	-2.59;-2.61	5.73	5.73	0.89815	.	0.354654	0.31415	N	0.007687	T	0.81307	0.4795	N	0.24115	0.695	0.80722	D	1	B;B	0.32302	0.363;0.363	B;B	0.31946	0.138;0.138	T	0.77643	-0.2511	9	.	.	.	.	13.7631	0.62979	0.1536:0.8464:0.0:0.0	.	1001;979	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	V	979;1001	ENSP00000396205:L979V;ENSP00000362485:L1001V	.	L	+	1	0	GARNL3	129195313	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	3.285000	0.51716	2.854000	0.98071	0.655000	0.94253	CTC	-	NULL		0.507	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	protein_coding	OTTHUMT00000054151.3	C	NM_032293		129195313	+1	no_errors	NM_032293	genbank	human	validated	54_36p	missense	SNP	0.995	G
RAPGEF6	51735	genome.wustl.edu	37	5	130764797	130764797	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:130764797G>C	ENST00000509018.1	-	27	4783	c.4578C>G	c.(4576-4578)caC>caG	p.H1526Q	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.H1576Q|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H1534Q|RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000507093.1_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1526					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GAGGTTTTAGGTGTGTGTGGG	0.512																																					Melanoma(168;435 1955 13113 13877 23213)											0			5											128.0	121.0	123.0					5																	130764797		2203	4300	6503	130792696	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4578C>G	5.37:g.130764797G>C	ENSP00000421684:p.His1526Gln		130792696	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_RA,HMMSmart_SM00314,HMMSmart_SM00147,HMMPfam_RasGEF	p.H1526Q	ENST00000509018.1	37	c.4578	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199216	0.58126	.	.	ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000296859;ENST00000514667	T;T;T	0.23348	1.91;1.91;2.01	5.06	3.19	0.36642	.	0.281493	0.41500	N	0.000870	T	0.23926	0.0579	L	0.56769	1.78	0.80722	D	1	P;P;P	0.45902	0.868;0.868;0.868	B;B;B	0.42245	0.381;0.381;0.381	T	0.02512	-1.1148	10	0.30854	T	0.27	.	8.2022	0.31432	0.139:0.1334:0.7276:0.0	.	1534;1576;1526	B7ZML2;E9PCH4;Q8TEU7	.;.;RPGF6_HUMAN	Q	1526;1534;1576	ENSP00000421684:H1526Q;ENSP00000296859:H1534Q;ENSP00000426948:H1576Q	ENSP00000426948:H1576Q	H	-	3	2	RAPGEF6;FNIP1	130792696	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.142000	0.50601	1.326000	0.45319	0.655000	0.94253	CAC	-	NULL		0.512	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	protein_coding	OTTHUMT00000370059.1	G	NM_016340		130792696	-1	no_errors	NM_016340	genbank	human	provisional	54_36p	missense	SNP	1.000	C
ADCY8	114	genome.wustl.edu	37	8	131859739	131859739	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr8:131859739C>G	ENST00000286355.5	-	11	4525	c.2433G>C	c.(2431-2433)aaG>aaC	p.K811N	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	811					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGGTATCGACTTGTCAAAAT	0.393										HNSCC(32;0.087)																																						0			8											67.0	67.0	67.0					8																	131859739		2203	4300	6503	131928921	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2433G>C	8.37:g.131859739C>G	ENSP00000286355:p.Lys811Asn		131928921		Missense_Mutation	SNP	HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053	p.K811N	ENST00000286355.5	37	c.2433	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835646	0.32421	.	.	ENSG00000155897	ENST00000286355	T	0.45276	0.9	5.9	5.03	0.67393	.	0.225081	0.46442	D	0.000299	T	0.30008	0.0751	L	0.34521	1.04	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.08764	-1.0706	10	0.17832	T	0.49	.	10.5556	0.45114	0.0:0.8382:0.0:0.1618	.	811	P40145	ADCY8_HUMAN	N	811	ENSP00000286355:K811N	ENSP00000286355:K811N	K	-	3	2	ADCY8	131928921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.498000	0.35660	1.509000	0.48786	0.655000	0.94253	AAG	-	NULL		0.393	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	protein_coding	OTTHUMT00000380080.1	C			131928921	-1	no_errors	NM_001115	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PCDHGA12	26025	genome.wustl.edu	37	5	140811961	140811961	+	Missense_Mutation	SNP	C	C	A	rs149830124	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:140811961C>A	ENST00000252085.3	+	1	1777	c.1635C>A	c.(1633-1635)aaC>aaA	p.N545K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCAGCAACGTGTCGTTGA	0.627																																																0			5											141.0	155.0	150.0					5																	140811961		2203	4300	6503	140792145	SO:0001583	missense	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1635C>A	5.37:g.140811961C>A	ENSP00000252085:p.Asn545Lys		140792145	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.N545K	ENST00000252085.3	37	c.1635	CCDS4260.1	5	.	.	.	.	.	.	.	.	.	.	c	7.810	0.715409	0.15306	.	.	ENSG00000253159	ENST00000252085	T	0.50548	0.74	4.95	-3.39	0.04868	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.57784	0.2077	M	0.80422	2.495	0.19945	N	0.999946	P;P	0.39404	0.621;0.672	P;P	0.47430	0.547;0.5	T	0.61720	-0.7005	9	0.62326	D	0.03	.	13.9359	0.64026	0.0:0.3293:0.0:0.6707	.	545;545	O60330-2;O60330	.;PCDGC_HUMAN	K	545	ENSP00000252085:N545K	ENSP00000252085:N545K	N	+	3	2	PCDHGA12	140792145	0.000000	0.05858	0.875000	0.34327	0.020000	0.10135	-1.745000	0.01831	-0.684000	0.05183	-0.264000	0.10439	AAC	-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.627	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	protein_coding	OTTHUMT00000251806.2	C	NM_003735		140792145	+1	no_errors	NM_003735	genbank	human	reviewed	54_36p	missense	SNP	0.372	A
CYP11B1	1584	genome.wustl.edu	37	8	143960475	143960475	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr8:143960475C>T	ENST00000292427.4	-	2	400	c.368G>A	c.(367-369)cGt>cAt	p.R123H	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R168H|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R123H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	123					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TTTGTGCCCACGATGTTGTCT	0.632									Familial Hyperaldosteronism type I																																							0			8											187.0	136.0	153.0					8																	143960475		2203	4300	6503	143957477	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.368G>A	8.37:g.143960475C>T	ENSP00000292427:p.Arg123His		143957477	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450	p.R123H	ENST00000292427.4	37	c.368	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	.	17.10	3.304011	0.60305	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.69435	-0.37;2.67;-0.4	3.66	2.65	0.31530	.	0.145050	0.31963	N	0.006787	T	0.70876	0.3274	M	0.81179	2.53	0.21652	N	0.999603	P;P;P	0.47191	0.792;0.891;0.691	B;P;B	0.50352	0.308;0.638;0.284	T	0.62539	-0.6833	10	0.49607	T	0.09	.	6.308	0.21149	0.0:0.8255:0.0:0.1745	.	168;123;123	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	H	123;123;168	ENSP00000292427:R123H;ENSP00000428043:R123H;ENSP00000366903:R168H	ENSP00000292427:R123H	R	-	2	0	CYP11B1	143957477	0.072000	0.21174	0.002000	0.10522	0.947000	0.59692	1.233000	0.32648	0.526000	0.28541	0.561000	0.74099	CGT	-	HMMPfam_p450,superfamily_Cytochrome_P450		0.632	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	protein_coding	OTTHUMT00000379475.2	C			143957477	-1	no_errors	NM_000497	genbank	human	reviewed	54_36p	missense	SNP	0.023	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150525927	150525927	+	Missense_Mutation	SNP	C	C	G	rs201977274		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:150525927C>G	ENST00000369038.2	+	4	661	c.460C>G	c.(460-462)Cca>Gca	p.P154A	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P154A|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P154A|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P154A|MIR4257_ENST00000581735.1_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	154					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCCATCAAGCCAGGAATGTT	0.587																																																0			1											85.0	85.0	85.0					1																	150525927		2203	4300	6503	148792551	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.460C>G	1.37:g.150525927C>G	ENSP00000358034:p.Pro154Ala		148792551	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC	p.P154A	ENST00000369038.2	37	c.460	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942823	0.73672	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.79141	-1.24;-1.2;-0.89;-1.2	4.39	4.39	0.52855	.	.	.	.	.	D	0.82273	0.5001	M	0.65498	2.005	0.32607	N	0.525133	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.85130	0.994;0.996;0.994;0.997	T	0.82448	-0.0452	9	0.87932	D	0	.	12.452	0.55682	0.0:1.0:0.0:0.0	.	154;154;154;154	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	A	154	ENSP00000358037:P154A;ENSP00000271643:P154A;ENSP00000358035:P154A;ENSP00000358034:P154A	ENSP00000271643:P154A	P	+	1	0	ADAMTSL4	148792551	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.874000	0.56101	1.994000	0.58287	0.542000	0.68232	CCA	-	NULL		0.587	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	protein_coding	OTTHUMT00000084395.4	C	NM_019032		148792551	+1	no_errors	NM_019032	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SYNE1	23345	genome.wustl.edu	37	6	152658130	152658130	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:152658130G>T	ENST00000367255.5	-	76	12975	c.12374C>A	c.(12373-12375)gCc>gAc	p.A4125D	SYNE1_ENST00000423061.1_Missense_Mutation_p.A4054D|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3990D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4125D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4054D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4125					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGTTCTGGGCCTGGACAAG	0.423										HNSCC(10;0.0054)																																						0			6											68.0	62.0	64.0					6																	152658130		2203	4300	6503	152699823	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12374C>A	6.37:g.152658130G>T	ENSP00000356224:p.Ala4125Asp		152699823	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,HMMPfam_KASH	p.A4125D	ENST00000367255.5	37	c.12374	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873305	0.33069	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.47	5.47	0.80525	.	0.115330	0.39210	N	0.001421	T	0.23846	0.0577	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.39782	0.561;0.561;0.561;0.688	B;B;B;B	0.39299	0.167;0.167;0.167;0.296	T	0.02526	-1.1146	10	0.39692	T	0.17	.	19.325	0.94258	0.0:0.0:1.0:0.0	.	4125;4125;4125;4054	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	4125;4054;4125;4054;3990	ENSP00000356224:A4125D;ENSP00000396024:A4054D;ENSP00000265368:A4125D;ENSP00000390975:A4054D;ENSP00000341887:A3990D	ENSP00000265368:A4125D	A	-	2	0	SYNE1	152699823	1.000000	0.71417	0.974000	0.42286	0.509000	0.34042	7.330000	0.79181	2.572000	0.86782	0.655000	0.94253	GCC	-	superfamily_Spectrin repeat		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152699823	-1	no_errors	NM_182961	genbank	human	reviewed	54_36p	missense	SNP	0.255	T
SYNE1	23345	genome.wustl.edu	37	6	152777150	152777150	+	Silent	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:152777150C>T	ENST00000367255.5	-	23	3199	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	SYNE1_ENST00000423061.1_Silent_p.K873K|SYNE1_ENST00000413186.2_Silent_p.K866K|SYNE1_ENST00000341594.5_Silent_p.K918K|SYNE1_ENST00000367248.3_Silent_p.K856K|SYNE1_ENST00000265368.4_Silent_p.K866K|SYNE1_ENST00000367253.4_Silent_p.K866K|SYNE1_ENST00000448038.1_Silent_p.K873K|SYNE1_ENST00000495090.2_Silent_p.K433K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	866					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAAGGTTTTCTTACAGTTTT	0.383										HNSCC(10;0.0054)																																						0			6											115.0	110.0	112.0					6																	152777150		2202	4300	6502	152818843	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2598G>A	6.37:g.152777150C>T			152818843	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat	p.K866	ENST00000367255.5	37	c.2598	CCDS5236.2	6																																																																																			-	superfamily_Spectrin repeat		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152818843	-1	no_errors	NM_182961	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
UBE3C	9690	genome.wustl.edu	37	7	156971476	156971476	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr7:156971476T>G	ENST00000348165.5	+	6	911	c.551T>G	c.(550-552)gTt>gGt	p.V184G	UBE3C_ENST00000389103.4_Missense_Mutation_p.V141G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	184					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TACTTGCCTGTTTTACAAGAT	0.388																																																0			7											201.0	174.0	183.0					7																	156971476		2203	4300	6503	156664237	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.551T>G	7.37:g.156971476T>G	ENSP00000309198:p.Val184Gly		156664237	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	HMMSmart_SM00015,HMMPfam_IQ,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.V184G	ENST00000348165.5	37	c.551	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049014	0.55110	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.49139	0.79	5.12	3.98	0.46160	.	0.251532	0.39083	N	0.001466	T	0.42630	0.1211	L	0.56769	1.78	0.80722	D	1	B;B;P	0.45283	0.036;0.066;0.855	B;B;B	0.40702	0.015;0.049;0.338	T	0.23476	-1.0187	10	0.32370	T	0.25	.	10.3456	0.43903	0.0:0.0769:0.0:0.9231	.	184;184;141	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	G	184;141	ENSP00000309198:V184G	ENSP00000309198:V184G	V	+	2	0	UBE3C	156664237	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.408000	0.59761	0.821000	0.34540	0.482000	0.46254	GTT	-	NULL		0.388	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	protein_coding	OTTHUMT00000348108.1	T	NM_014671		156664237	+1	no_errors	NM_014671	genbank	human	validated	54_36p	missense	SNP	1.000	G
ADAMTS4	9507	genome.wustl.edu	37	1	161165361	161165361	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:161165361G>C	ENST00000367996.5	-	4	1583	c.1155C>G	c.(1153-1155)agC>agG	p.S385R	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	385	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GGCGAGAGGTGCTCAAAGGCC	0.557																																																0			1											188.0	157.0	167.0					1																	161165361		2203	4300	6503	159431985	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1155C>G	1.37:g.161165361G>C	ENSP00000356975:p.Ser385Arg		159431985	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1"	p.S385R	ENST00000367996.5	37	c.1155	CCDS1223.1	1	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101391	0.20632	.	.	ENSG00000158859	ENST00000367996	T	0.63744	-0.06	4.77	0.669	0.17918	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.145121	0.46442	D	0.000293	T	0.29389	0.0732	L	0.45422	1.42	0.80722	D	1	B	0.15141	0.012	B	0.18871	0.023	T	0.09930	-1.0652	10	0.18710	T	0.47	.	9.2561	0.37584	0.3205:0.0:0.6795:0.0	.	385	O75173	ATS4_HUMAN	R	385	ENSP00000356975:S385R	ENSP00000356975:S385R	S	-	3	2	ADAMTS4	159431985	0.000000	0.05858	0.885000	0.34714	0.956000	0.61745	-0.029000	0.12329	0.218000	0.20820	0.561000	0.74099	AGC	-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin"		0.557	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	protein_coding	OTTHUMT00000083066.2	G	NM_005099		159431985	-1	no_errors	NM_005099	genbank	human	reviewed	54_36p	missense	SNP	0.977	C
IGF2R	3482	genome.wustl.edu	37	6	160454066	160454066	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:160454066G>T	ENST00000356956.1	+	9	1286	c.1138G>T	c.(1138-1140)Gca>Tca	p.A380S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	380					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AAAACAAGCTGCAGTTTGCCA	0.378																																																0			6											95.0	93.0	94.0					6																	160454066		2203	4300	6503	160374056	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1138G>T	6.37:g.160454066G>T	ENSP00000349437:p.Ala380Ser		160374056	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	superfamily_Mannose 6-phosphate receptor domain,HMMPfam_CIMR,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1	p.A380S	ENST00000356956.1	37	c.1138	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	G	8.117	0.780043	0.16120	.	.	ENSG00000197081	ENST00000356956	T	0.03124	4.04	4.81	3.94	0.45596	Mannose-6-phosphate receptor, binding (1);	0.059050	0.64402	D	0.000002	T	0.01835	0.0058	M	0.62088	1.915	0.32775	N	0.503204	P	0.39060	0.657	B	0.39706	0.307	T	0.49031	-0.8981	10	0.23302	T	0.38	-12.2758	6.7872	0.23679	0.0912:0.0:0.6883:0.2205	.	380	P11717	MPRI_HUMAN	S	380	ENSP00000349437:A380S	ENSP00000349437:A380S	A	+	1	0	IGF2R	160374056	0.974000	0.33945	0.044000	0.18714	0.004000	0.04260	2.100000	0.41777	1.167000	0.42706	-0.136000	0.14681	GCA	-	HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain		0.378	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	protein_coding	OTTHUMT00000042931.1	G	NM_000876		160374056	+1	no_errors	NM_000876	genbank	human	reviewed	54_36p	missense	SNP	0.007	T
SDCCAG3P2	646891	genome.wustl.edu	37	1	175014104	175014104	+	IGR	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:175014104C>T								MRPS14 (21543 upstream) : TNN (22889 downstream)																							GCTGAACCACCGACTCCAAGT	0.478																																																0			1																																								173280727	SO:0001628	intergenic_variant	646891																															1.37:g.175014104C>T			173280727		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.478					LOC646891			C			173280727	-1	pseudogene	XR_017348	genbank	human	model	54_36p	rna	SNP	0.000	T
HOXD10	3236	genome.wustl.edu	37	2	176982219	176982219	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:176982219G>C	ENST00000249501.4	+	1	913	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	220					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGAGAGCCCCGAGGCCAAAGG	0.622																																																0			2											22.0	27.0	25.0					2																	176982219		2195	4284	6479	176690465	SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.658G>C	2.37:g.176982219G>C	ENSP00000249501:p.Glu220Gln		176690465	Q6NT10	Missense_Mutation	SNP	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.E220Q	ENST00000249501.4	37	c.658	CCDS2266.1	2	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059233	0.36373	.	.	ENSG00000128710	ENST00000249501	D	0.93366	-3.21	5.9	5.9	0.94986	.	0.231325	0.48767	D	0.000161	D	0.93723	0.7994	M	0.73962	2.25	0.54753	D	0.999981	B	0.31383	0.321	B	0.34180	0.177	D	0.91546	0.5253	10	0.41790	T	0.15	.	20.4349	0.99088	0.0:0.0:1.0:0.0	.	220	P28358	HXD10_HUMAN	Q	220	ENSP00000249501:E220Q	ENSP00000249501:E220Q	E	+	1	0	HOXD10	176690465	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.092000	0.94157	2.839000	0.97877	0.644000	0.83932	GAG	-	NULL		0.622	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	protein_coding	OTTHUMT00000255692.2	G			176690465	+1	no_errors	NM_002148	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179404969	179404969	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:179404969C>A	ENST00000591111.1	-	301	93225	c.93001G>T	c.(93001-93003)Gta>Tta	p.V31001L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30074L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23769L|TTN_ENST00000589042.1_Missense_Mutation_p.V32642L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23702L|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23577L			Q8WZ42	TITIN_HUMAN	titin	31001	Fibronectin type-III 126. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTGATCTACTTTTTGCATT	0.448																																																0			2											395.0	387.0	389.0					2																	179404969		1972	4169	6141	179113215	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93001G>T	2.37:g.179404969C>A	ENSP00000465570:p.Val31001Leu		179113215	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.V28623L	ENST00000591111.1	37	c.85867		2	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304984	0.60305	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.96	5.96	0.96718	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66005	0.2746	L	0.33792	1.035	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.66874	-0.5813	9	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	23577;23702;23769;31001	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	30074;23577;23769;23702;23574	ENSP00000343764:V30074L;ENSP00000434586:V23577L;ENSP00000340554:V23769L;ENSP00000352154:V23702L	ENSP00000340554:V23769L	V	-	1	0	TTN	179113215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GTA	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179113215	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	A
FLT4	2324	genome.wustl.edu	37	5	180030253	180030253	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:180030253C>T	ENST00000261937.6	-	30	4109	c.4031G>A	c.(4030-4032)aGc>aAc	p.S1344N		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1344					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCTCCTCGCTTGGCTCCGA	0.642																																					Colon(97;1075 1466 27033 27547 35871)											0			5											34.0	32.0	32.0					5																	180030253		2203	4300	6503	179962859	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.4031G>A	5.37:g.180030253C>T	ENSP00000261937:p.Ser1344Asn		179962859	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR	p.S1344N	ENST00000261937.6	37	c.4031	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	9.385	1.074006	0.20147	.	.	ENSG00000037280	ENST00000261937	T	0.76709	-1.04	4.62	-2.78	0.05859	.	.	.	.	.	T	0.56187	0.1968	L	0.29908	0.895	0.09310	N	1	B	0.25955	0.138	B	0.21151	0.033	T	0.39165	-0.9627	9	0.13470	T	0.59	.	3.4858	0.07619	0.0999:0.1856:0.4855:0.229	.	1344	P35916	VGFR3_HUMAN	N	1344	ENSP00000261937:S1344N	ENSP00000261937:S1344N	S	-	2	0	FLT4	179962859	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.102000	0.15272	-0.245000	0.09625	0.471000	0.43371	AGC	-	NULL		0.642	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	protein_coding	OTTHUMT00000253527.4	C			179962859	-1	no_errors	NM_182925	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
BRINP3	339479	genome.wustl.edu	37	1	190067963	190067963	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:190067963C>T	ENST00000367462.3	-	8	1717	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	BRINP3_ENST00000534846.1_Missense_Mutation_p.E394K	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	496					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TATTTCATCTCGAGATCTTGC	0.498																																																0			1											162.0	159.0	160.0					1																	190067963		2203	4300	6503	188334586	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1486G>A	1.37:g.190067963C>T	ENSP00000356432:p.Glu496Lys		188334586	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	HMMPfam_MACPF,HMMSmart_SM00457	p.E496K	ENST00000367462.3	37	c.1486	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434742	0.83885	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.54675	0.56;0.56	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.959	T	0.75365	-0.3343	10	0.87932	D	0	.	17.4417	0.87566	0.0:1.0:0.0:0.0	.	394;496	B7Z260;Q76B58	.;FAM5C_HUMAN	K	496;394	ENSP00000356432:E496K;ENSP00000438022:E394K	ENSP00000356432:E496K	E	-	1	0	FAM5C	188334586	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	7.734000	0.84928	2.712000	0.92718	0.591000	0.81541	GAG	-	NULL		0.498	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	protein_coding	OTTHUMT00000086278.1	C	NM_199051		188334586	-1	no_errors	NM_199051	genbank	human	provisional	54_36p	missense	SNP	1.000	T
PIGX	54965	genome.wustl.edu	37	3	196454797	196454797	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:196454797G>A	ENST00000421265.1	+	4	252	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000314118.4_Missense_Mutation_p.V67M			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	108					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		TGAACAGGCAGTGATGGTTTC	0.338																																																0			3											69.0	76.0	74.0					3																	196454797		2203	4300	6503	197939194	SO:0001583	missense	54965			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.199G>A	3.37:g.196454797G>A	ENSP00000416446:p.Val67Met		197939194	Q9NWZ2	Missense_Mutation	SNP	HMMPfam_PIG-X,HMMSmart_PIG-X	p.V67M	ENST00000421265.1	37	c.199		3	.	.	.	.	.	.	.	.	.	.	G	9.780	1.175139	0.21704	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000451319	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.1	-3.26	0.05064	.	0.640450	0.15022	N	0.284940	T	0.16471	0.0396	L	0.45581	1.43	0.80722	D	1	P;B	0.38473	0.633;0.347	B;B	0.34489	0.184;0.146	T	0.18650	-1.0330	10	0.32370	T	0.25	-4.0261	0.8979	0.01267	0.3619:0.1222:0.3125:0.2034	.	108;108	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	M	67;108;67;108;67;67	ENSP00000409073:V67M;ENSP00000376192:V108M;ENSP00000317301:V67M;ENSP00000296333:V108M;ENSP00000416446:V67M;ENSP00000390804:V67M	ENSP00000296333:V108M	V	+	1	0	PIGX	197939194	0.188000	0.23250	0.938000	0.37757	0.600000	0.36913	-0.713000	0.05007	-0.461000	0.06993	-0.253000	0.11424	GTG	-	HMMPfam_PIG-X,HMMSmart_PIG-X		0.338	PIGX-008	PUTATIVE	basic	protein_coding	PIGX	protein_coding	OTTHUMT00000340684.1	G	NM_017861		197939194	+1	no_errors	NM_017861	genbank	human	validated	54_36p	missense	SNP	0.870	A
DSTYK	25778	genome.wustl.edu	37	1	205156548	205156548	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:205156548G>T	ENST00000367162.3	-	2	682	c.652C>A	c.(652-654)Cag>Aag	p.Q218K	DSTYK_ENST00000367161.3_Missense_Mutation_p.Q218K|DSTYK_ENST00000367160.4_Missense_Mutation_p.Q218K	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	218					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ATTGGTACCTGTAAGAGAGCA	0.398																																																0			1											84.0	63.0	70.0					1																	205156548		2203	4300	6503	203423171	SO:0001583	missense	25778			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.652C>A	1.37:g.205156548G>T	ENSP00000356130:p.Gln218Lys		203423171	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.Q218K	ENST00000367162.3	37	c.652	CCDS1451.1	1	.	.	.	.	.	.	.	.	.	.	G	4.121	0.020663	0.08006	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.76316	-0.6;-0.95;-1.01	5.39	3.47	0.39725	.	0.117701	0.64402	N	0.000014	T	0.62159	0.2405	N	0.17800	0.525	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.51624	-0.8682	10	0.14656	T	0.56	-16.4702	13.8493	0.63487	0.0:0.0:0.6039:0.3961	.	218;218	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	K	218	ENSP00000356128:Q218K;ENSP00000356129:Q218K;ENSP00000356130:Q218K	ENSP00000356128:Q218K	Q	-	1	0	DSTYK	203423171	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.996000	0.63914	0.605000	0.29947	-0.268000	0.10319	CAG	-	NULL		0.398	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	protein_coding	OTTHUMT00000090345.1	G	NM_015375		203423171	-1	no_errors	NM_015375	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RAPH1	65059	genome.wustl.edu	37	2	204302903	204302903	+	3'UTR	SNP	G	G	T			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:204302903G>T	ENST00000319170.5	-	0	5309				ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1						axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCAGCAAGGGTCCTGGTAGC	0.423																																																0			2											46.0	43.0	44.0					2																	204302903		876	1991	2867	204011148	SO:0001624	3_prime_UTR_variant	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.*1257C>A	2.37:g.204302903G>T			204011148	Q96Q37|Q9C0I2	Missense_Mutation	SNP	NULL	p.T123N	ENST00000319170.5	37	c.368	CCDS2359.1	2																																																																																			-	NULL		0.423	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	protein_coding	OTTHUMT00000256363.2	G	NM_025252		204011148	-1	no_errors	ENST00000355146	ensembl	human	known	54_36p	missense	SNP	0.000	T
ABCA12	26154	genome.wustl.edu	37	2	215823127	215823127	+	Silent	SNP	G	G	A			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:215823127G>A	ENST00000272895.7	-	41	6210	c.5991C>T	c.(5989-5991)taC>taT	p.Y1997Y	AC072062.1_ENST00000420134.1_RNA|AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.Y1679Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1997					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGGTGACAGAGTAGCCCATCA	0.433																																					Ovarian(66;664 1488 5121 34295)											0			2											168.0	136.0	147.0					2																	215823127		2203	4300	6503	215531372	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5991C>T	2.37:g.215823127G>A			215531372	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.Y1997	ENST00000272895.7	37	c.5991	CCDS33372.1	2																																																																																			-	NULL		0.433	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215531372	-1	no_errors	NM_173076	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
SPEG	10290	genome.wustl.edu	37	2	220354291	220354291	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:220354291G>C	ENST00000312358.7	+	36	8683	c.8551G>C	c.(8551-8553)Ggc>Cgc	p.G2851R	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2851	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGACACAGGGGCCTGCAGGC	0.662																																																0			2											61.0	70.0	67.0					2																	220354291		1962	4129	6091	220062535	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8551G>C	2.37:g.220354291G>C	ENSP00000311684:p.Gly2851Arg		220062535	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00219	p.G2851R	ENST00000312358.7	37	c.8551	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196369	0.38806	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.64618	-0.11	4.11	4.11	0.48088	.	0.204693	0.24262	U	0.040066	T	0.44414	0.1292	N	0.14661	0.345	0.80722	D	1	P	0.44578	0.838	B	0.41813	0.367	T	0.36915	-0.9728	10	0.29301	T	0.29	.	11.7813	0.52016	0.0:0.0:0.824:0.176	.	2851	Q15772	SPEG_HUMAN	R	2851	ENSP00000311684:G2851R	ENSP00000265327:G2851R	G	+	1	0	SPEG	220062535	.	.	1.000000	0.80357	0.931000	0.56810	.	.	2.299000	0.77371	0.456000	0.33151	GGC	-	NULL		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220062535	+1	no_errors	NM_005876	genbank	human	validated	54_36p	missense	SNP	0.743	C
DESI2	51029	genome.wustl.edu	37	1	244869024	244869024	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:244869024C>G	ENST00000302550.11	+	5	897	c.518C>G	c.(517-519)gCt>gGt	p.A173G	DESI2_ENST00000263831.7_Missense_Mutation_p.A140G	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	173						cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										GCAGAGGATGCTGCCGCATCC	0.562																																																0			1											42.0	45.0	44.0					1																	244869024		2203	4300	6503	242935647	SO:0001583	missense	51029			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.518C>G	1.37:g.244869024C>G	ENSP00000306528:p.Ala173Gly		242935647	B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	HMMPfam_DUF862	p.A173G	ENST00000302550.11	37	c.518	CCDS1626.1	1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844098	0.51164	.	.	ENSG00000121644	ENST00000302550;ENST00000263831	.	.	.	6.17	6.17	0.99709	.	0.087650	0.85682	D	0.000000	T	0.59636	0.2208	L	0.44542	1.39	0.51233	D	0.999914	B;B	0.30605	0.287;0.083	B;B	0.33620	0.167;0.035	T	0.51631	-0.8681	9	0.21014	T	0.42	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	140;173	Q9BSY9-2;Q9BSY9	.;PPDE1_HUMAN	G	173;140	.	ENSP00000263831:A140G	A	+	2	0	PPPDE1	242935647	0.986000	0.35501	0.357000	0.25798	0.884000	0.51177	2.711000	0.47177	2.941000	0.99782	0.655000	0.94253	GCT	-	NULL		0.562	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PPPDE1	protein_coding	OTTHUMT00000097168.1	C	NM_016076		242935647	+1	no_errors	NM_016076	genbank	human	validated	54_36p	missense	SNP	0.953	G
ADAMTS6	11174	genome.wustl.edu	37	5	64468682	64468685	+	5'UTR	DEL	AGCG	AGCG	-	rs74464814	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	AGCG	AGCG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr5:64468682_64468685delAGCG	ENST00000314351.5	-	0	720_723							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R192C(1)|p.R1021C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCTGTGACCCAGCGAGGAGGAGGG	0.554																																																2	Substitution - Missense(2)	pancreas(2)	5																																								64504441	SO:0001623	5_prime_UTR_variant	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-602CGCT>-	5.37:g.64468682_64468685delAGCG			64504438	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Frame_Shift_Del	DEL	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC"	p.R1021fs	ENST00000314351.5	37	c.3064_3061		5																																																																																			(deletion:cds_exon[64504415,64504591])	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209		0.554	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	protein_coding	OTTHUMT00000157334.2	AGCG	NM_197941		64504441	-1	no_errors	NM_197941	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-
Unknown	0	genome.wustl.edu	37	7	65970952	65970963	+	IGR	DEL	ATGGCGGTGAAA	ATGGCGGTGAAA	-			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	ATGGCGGTGAAA	ATGGCGGTGAAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr7:65970952_65970963delATGGCGGTGAAA								GS1-124K5.4 (10491 upstream) : GS1-124K5.11 (20111 downstream)																							CATGGCCTGCATGGCGGTGAAAATGTTCTGGT	0.566																																																0			7																																								65608398	SO:0001628	intergenic_variant	346329																															7.37:g.65970952_65970963delATGGCGGTGAAA			65608387		RNA	DEL	-	NULL		37	NULL		7																																																																																			(deletion:rna[65607282,65608645])	-	0	0.566					LOC346329			ATGGCGGTGAAA			65608398	-1	pseudogene	XR_016257	genbank	human	model	54_36p	rna	DEL	0.940:0.971:0.981:0.934:0.816:0.794:0.852:0.962:1.000:1.000:1.000:1.000	-
ARHGEF17	9828	genome.wustl.edu	37	11	73020375	73020376	+	In_Frame_Ins	INS	-	-	CTC	rs113363731|rs79815384|rs376101926|rs139105330	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr11:73020375_73020376insCTC	ENST00000263674.3	+	1	1042_1043	c.692_693insCTC	c.(691-696)tgctcc>tgCTCctcc	p.235_236insS	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	235	Poly-Ser.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGGGCCTCCTGCTCCTCCTCCT	0.693														1497	0.298922	0.7489	0.1671	5008	,	,		13735	0.0466		0.2068	False		,,,				2504	0.1391															0			11							,	61,2354,1453		19,0,23,836,682,374					,	3.1	1.0		dbSNP_119	18	29,1495,5912		6,0,17,234,1027,2434	no	codingComplex,codingComplex	ARHGEF17,LOC100287837	XM_002343116.2,NM_014786.3	,	25,0,40,1070,1709,2808	A1A1,A1A2,A1R,A2A2,A2R,RR		20.4949,39.1417,34.8461	,	,		90,3849,7365				72698024	SO:0001652	inframe_insertion	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.702_704dupCTC	11.37:g.73020382_73020384dupCTC	ENSP00000263674:p.Ser235_Ser235dup		72698023	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	In_Frame_Ins	INS	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase	p.235in_frame_insS	ENST00000263674.3	37	c.692_693	CCDS8221.1	11																																																																																			-	NULL		0.693	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	protein_coding	OTTHUMT00000397365.1	-	NM_014786		72698024	+1	no_errors	NM_014786	genbank	human	validated	54_36p	in_frame_ins	INS	0.944:0.961	CTC
NMRK1	54981	genome.wustl.edu	37	9	77692483	77692494	+	In_Frame_Del	DEL	CACTGTTTGTCA	CACTGTTTGTCA	-	rs199562641		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	CACTGTTTGTCA	CACTGTTTGTCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr9:77692483_77692494delCACTGTTTGTCA	ENST00000361092.4	-	3	268_279	c.32_43delTGACAAACAGTG	c.(31-45)gtgacaaacagtggc>ggc	p.VTNS11del	NMRK1_ENST00000376811.1_In_Frame_Del_p.VTNS15del|NMRK1_ENST00000376808.4_In_Frame_Del_p.VTNS11del	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	11					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										GTTGTTTTGCCACTGTTTGTCACACTGAAGCA	0.349																																																0			9																																								76882314	SO:0001651	inframe_deletion	54981			AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.32_43delTGACAAACAGTG	9.37:g.77692483_77692494delCACTGTTTGTCA	ENSP00000354387:p.Val11_Ser14del		76882303	Q5W124|Q8N430	In_Frame_Del	DEL	superfamily_P-loop containing nucleoside triphosphate hydrolases	p.VTNS11in_frame_del	ENST00000361092.4	37	c.43_32	CCDS6650.1	9																																																																																			(deletion:cds_exon[76882226,76882316])	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.349	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf95	protein_coding	OTTHUMT00000052705.1	CACTGTTTGTCA	NM_017881		76882314	-1	no_errors	NM_017881	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:0.995:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
CNR1	1268	genome.wustl.edu	37	6	88854909	88854932	+	In_Frame_Del	DEL	GAATGTCATTTGAGCCCACGTACA	GAATGTCATTTGAGCCCACGTACA	-	rs148575019		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	GAATGTCATTTGAGCCCACGTACA	GAATGTCATTTGAGCCCACGTACA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr6:88854909_88854932delGAATGTCATTTGAGCCCACGTACA	ENST00000537554.1	-	2	3624_3647	c.62_85delTGTACGTGGGCTCAAATGACATTC	c.(61-87)ctgtacgtgggctcaaatgacattcag>cag	p.LYVGSNDI21del	CNR1_ENST00000428600.2_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000369499.2_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000549716.1_In_Frame_Del_p.CTWAQMTF16del|CNR1_ENST00000535130.1_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000549890.1_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000369501.2_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000362094.5_In_Frame_Del_p.LYVGSNDI21del|CNR1_ENST00000468898.1_Splice_Site_p.L21del	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	21					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.V23M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCTTCGTACTGAATGTCATTTGAGCCCACGTACAGGAGGTCAGT	0.46																																																1	Substitution - Missense(1)	prostate(1)	6																																								88911651	SO:0001651	inframe_deletion	1268			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.62_85delTGTACGTGGGCTCAAATGACATTC	6.37:g.88854909_88854932delGAATGTCATTTGAGCCCACGTACA	ENSP00000441046:p.Leu21_Ile28del		88911628	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	In_Frame_Del	DEL	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.LYVGSNDI21in_frame_del	ENST00000537554.1	37	c.85_62	CCDS5015.1	6																																																																																			(deletion:cds_exon[88910294,88911712])	NULL		0.460	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	protein_coding	OTTHUMT00000354204.2	GAATGTCATTTGAGCCCACGTACA			88911651	-1	no_errors	NM_016083	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.827:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
PTEN	5728	genome.wustl.edu	37	10	89712010	89712034	+	Splice_Site	DEL	ACTTGCAGTAAGTGCTTGAAATTCT	ACTTGCAGTAAGTGCTTGAAATTCT	-	rs138336847|rs121909232		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	ACTTGCAGTAAGTGCTTGAAATTCT	ACTTGCAGTAAGTGCTTGAAATTCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr10:89712010_89712034delACTTGCAGTAAGTGCTTGAAATTCT	ENST00000371953.3	+	6	1985_1991	c.628_634delACTTGCAGTAAGTGCTTGAAATTCT	c.(628-636)acttgcagt>gt	p.TCS210fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	210	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(15)|p.R55fs*1(5)|p.G165fs*9(3)|p.Y27fs*1(2)|p.C211Y(1)|p.G165_*404del(1)|p.C211*(1)|p.C211fs*32(1)|p.C211fs*11(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTGGCGGAACTTGCAGTAAGTGCTTGAAATTCTCATCCTTCCA	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	67	Whole gene deletion(37)|Unknown(15)|Deletion - Frameshift(10)|Insertion - Frameshift(2)|Deletion - In frame(1)|Substitution - Nonsense(1)|Substitution - Missense(1)	central_nervous_system(17)|prostate(16)|skin(12)|endometrium(5)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10	GRCh37	CI004544|CM014085|CS010097|CS043793|CS991491	PTEN	I|M|S	rs121909232|rs138336847																																			89702014	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.634+1ACTTGCAGTAAGTGCTTGAAATTCT>-	10.37:g.89712010_89712034delACTTGCAGTAAGTGCTTGAAATTCT			89701990	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)	p.T210fs	ENST00000371953.3	37	c.628_634	CCDS31238.1	10																																																																																			(deletion:cds_exon[89701855,89701996], intron[89701997,89707589])	HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	ACTTGCAGTAAGTGCTTGAAATTCT	NM_000314	Frame_Shift_Del	89702014	+1	no_errors	NM_000314	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
ACAD11	84129	genome.wustl.edu	37	3	132358366	132358382	+	Frame_Shift_Del	DEL	TCTGAAATCTCCATGAA	TCTGAAATCTCCATGAA	-			TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	TCTGAAATCTCCATGAA	TCTGAAATCTCCATGAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr3:132358366_132358382delTCTGAAATCTCCATGAA	ENST00000264990.6	-	5	1627_1643	c.656_672delTTCATGGAGATTTCAGA	c.(655-672)attcatggagatttcagafs	p.IHGDFR219fs	ACAD11_ENST00000481970.2_Frame_Shift_Del_p.IHGDFR219fs|ACAD11_ENST00000355458.3_Frame_Shift_Del_p.IHGDFR219fs|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	219					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGTTATCTAGTCTGAAATCTCCATGAATCAAATTCTC	0.401																																																0			3																																								133841072	SO:0001589	frameshift_variant	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.656_672delTTCATGGAGATTTCAGA	3.37:g.132358366_132358382delTCTGAAATCTCCATGAA	ENSP00000264990:p.Ile219fs		133841056	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Frame_Shift_Del	DEL	superfamily_Protein kinase-like (PK-like),HMMPfam_APH,PatternScan_PROTEIN_KINASE_TYR,superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like	p.I219fs	ENST00000264990.6	37	c.672_656	CCDS3074.1	3																																																																																			(deletion:cds_exon[133841026,133841190])	superfamily_Protein kinase-like (PK-like),HMMPfam_APH,PatternScan_PROTEIN_KINASE_TYR		0.401	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	protein_coding	OTTHUMT00000357279.2	TCTGAAATCTCCATGAA	NM_032169		133841072	-1	no_errors	NM_032169	genbank	human	validated	54_36p	frame_shift_del	DEL	0.987:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
TTN	7273	genome.wustl.edu	37	2	179495730	179495762	+	Splice_Site	DEL	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC	-	rs139264089	byFrequency	TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr2:179495730_179495762delTCAAGAGTGAAACTCATGGAAATTTCCTTACCC	ENST00000591111.1	-	187	39314_39316	c.39090_39092delGGGTAAGGAAATTTCCATGAGTTTCACTCTTGA	c.(39088-39093)gagggt>gat	p.13030_13031EG>D	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.12103_12104EG>D|TTN_ENST00000342175.6_Splice_Site_p.5798_5799EG>D|TTN_ENST00000589042.1_Splice_Site_p.14671_14672EG>D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.5731_5732EG>D|TTN_ENST00000460472.2_Splice_Site_p.5606_5607EG>D			Q8WZ42	TITIN_HUMAN	titin	13030	Ig-like 86.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCCAATGCTTCAAGAGTGAAACTCATGGAAATTTCCTTACCCTCAATGTCAA	0.451																																																0			2																																								179204007	SO:0001630	splice_region_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39091+1GGGTAAGGAAATTTCCATGAGTTTCACTCTTGA>-	2.37:g.179495730_179495762delTCAAGAGTGAAACTCATGGAAATTTCCTTACCC			179203975	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	DEL	-	e146-1	ENST00000591111.1	37	c.31960+3_31960+1		2																																																																																			(deletion:intron[179203916,179204005], cds_exon[179204006,179204272])	-		0.451	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	TCAAGAGTGAAACTCATGGAAATTTCCTTACCC	NM_133378	In_Frame_Del	179204007	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	splice_site_del	DEL	0.036:0.040:0.016:0.027:0.024:0.000:0.000:0.000:0.001:0.002:0.004:0.024:0.001:0.002:0.002:0.000:0.000:0.011:0.020:0.016:0.008:0.004:0.002:0.001:0.031:0.404:0.835:0.975:0.988:1.000:1.000:1.000:0.997	-
WDR64	128025	genome.wustl.edu	37	1	241904937	241904947	+	Frame_Shift_Del	DEL	CTCACTATCTG	CTCACTATCTG	-	rs374361180		TCGA-61-1737-01A-01W-0639-09	TCGA-61-1737-11A-01W-0639-09	CTCACTATCTG	CTCACTATCTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ff9dd6f8-0030-455e-bca8-f3090615c39c	d0dbbf30-9f8d-4e13-9481-df5b5826af8c	g.chr1:241904937_241904947delCTCACTATCTG	ENST00000366552.2	+	11	1618_1628	c.1411_1421delCTCACTATCTG	c.(1411-1422)ctcactatctgcfs	p.LTIC471fs	WDR64_ENST00000437684.2_Frame_Shift_Del_p.LTIC471fs	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	471										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TCATCAAGTACTCACTATCTGCTCTGAATCC	0.327																																																0			1																																								239971570	SO:0001589	frameshift_variant	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1411_1421delCTCACTATCTG	1.37:g.241904937_241904947delCTCACTATCTG	ENSP00000355510:p.Leu471fs		239971560	B1ANT0|Q7Z573|Q96LY9	Frame_Shift_Del	DEL	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.T192fs	ENST00000366552.2	37	c.571_581		1																																																																																			(deletion:cds_exon[239971441,239971589])	superfamily_WD40 repeat-like,HMMSmart_SM00320		0.327	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	protein_coding		CTCACTATCTG	NM_144625		239971570	+1	no_errors	NM_144625	genbank	human	validated	54_36p	frame_shift_del	DEL	0.993:0.994:0.987:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
