#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADIPOQ	9370	genome.wustl.edu	37	3	186572124	186572124	+	Silent	SNP	C	C	T	rs78129385		TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr3:186572124C>T	ENST00000412955.2	+	3	507	c.366C>T	c.(364-366)taC>taT	p.Y122Y	ADIPOQ_ENST00000444204.2_Silent_p.Y122Y|ADIPOQ_ENST00000320741.2_Silent_p.Y122Y|ADIPOQ-AS1_ENST00000422718.1_RNA			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	122	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		TGGAGACTTACGTTACTATCC	0.488																																						dbGAP											0													188.0	167.0	174.0					3																	186572124		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.366C>T	3.37:g.186572124C>T			Q58EX9	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	p.Y122	ENST00000412955.2	37	c.366	CCDS3284.1	3																																																																																			ADIPOQ	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q	ENSG00000181092		0.488	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOQ	HGNC	protein_coding	OTTHUMT00000344490.2	28	0.00	0	C	NM_004797		186572124	186572124	+1	no_errors	ENST00000320741	ensembl	human	known	69_37n	silent	27	15.62	5	SNP	0.000	T
ARHGAP33	115703	genome.wustl.edu	37	19	36273541	36273541	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr19:36273541G>T	ENST00000007510.4	+	14	1417	c.1273G>T	c.(1273-1275)Gtg>Ttg	p.V425L	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.V289L|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.V425L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	425	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCTGGTGCGGGTGCACGATGT	0.652																																						dbGAP											0													39.0	35.0	36.0					19																	36273541		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1273G>T	19.37:g.36273541G>T	ENSP00000007510:p.Val425Leu		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.V425L	ENST00000007510.4	37	c.1273		19	.	.	.	.	.	.	.	.	.	.	g	14.75	2.627207	0.46944	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.14893	2.47;2.47;2.47	5.19	4.16	0.48862	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.10294	0.0252	N	0.02379	-0.575	0.43647	D	0.996054	B;B;P	0.50528	0.21;0.172;0.936	B;B;P	0.50405	0.262;0.12;0.64	T	0.34900	-0.9810	10	0.17832	T	0.49	.	12.7709	0.57421	0.0816:0.0:0.9184:0.0	.	425;289;425	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	L	425;425;289	ENSP00000007510:V425L;ENSP00000320038:V425L;ENSP00000368227:V289L	ENSP00000007510:V425L	V	+	1	0	ARHGAP33	40965381	0.958000	0.32768	0.078000	0.20375	0.771000	0.43674	1.848000	0.39309	1.200000	0.43188	0.558000	0.71614	GTG	ARHGAP33	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000004777		0.652	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		25	0.00	0	G	NM_052948		36273541	36273541	+1	no_errors	ENST00000007510	ensembl	human	known	69_37n	missense	25	35.00	14	SNP	0.986	T
ARHGEF4	50649	genome.wustl.edu	37	2	131673702	131673702	+	5'Flank	SNP	G	G	A	rs62178867	byFrequency	TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr2:131673702G>A	ENST00000326016.5	+	0	0				ARHGEF4_ENST00000428230.2_5'Flank|ARHGEF4_ENST00000392953.3_5'Flank|ARHGEF4_ENST00000409359.1_Missense_Mutation_p.S398N|ARHGEF4_ENST00000525839.1_5'Flank	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4						apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GAGACGCCGAGCACAGAGGAG	0.706													G|||	900	0.179712	0.1339	0.134	5008	,	,		11161	0.123		0.2276	False		,,,				2504	0.2832					dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657		2.37:g.131673702G>A	Exception_encountered		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	NULL	p.S398N	ENST00000326016.5	37	c.1193	CCDS2165.1	2	359	0.16437728937728938	68	0.13821138211382114	52	0.143646408839779	53	0.09265734265734266	186	0.24538258575197888	G	9.349	1.065116	0.20067	.	.	ENSG00000136002	ENST00000409359	T	0.43688	0.94	3.83	1.96	0.26148	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	4.000000000004E-6	B	0.33318	0.408	B	0.28784	0.094	T	0.31336	-0.9947	6	.	.	.	.	5.1465	0.14987	0.1187:0.213:0.6683:0.0	rs62178867	398	E7EV07	.	N	398	ENSP00000386794:S398N	.	S	+	2	0	ARHGEF4	131390172	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.209000	0.17435	0.380000	0.24823	0.491000	0.48974	AGC	ARHGEF4	-	NULL	ENSG00000136002		0.706	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	12	0.00	0	G			131673702	131673702	+1	no_errors	ENST00000409359	ensembl	human	putative	69_37n	missense	2	66.67	4	SNP	0.002	A
PRR26	414235	genome.wustl.edu	37	10	697170	697170	+	Silent	SNP	A	A	G			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr10:697170A>G	ENST00000441152.2	+	3	826	c.663A>G	c.(661-663)caA>caG	p.Q221Q	PRR26_ENST00000381489.5_Intron|DIP2C_ENST00000280886.6_Intron			Q8N8Z3	PRR26_HUMAN	proline rich 26	221																	CATCACACCAATGATGGCGTC	0.622																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK096000		10p15.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000180525	ENSG00000180525			30724	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 108"""	C10orf108			Standard	NR_027151		Approved	FLJ38681	uc001ifr.3	Q8N8Z3	OTTHUMG00000017529	ENST00000441152.2:c.663A>G	10.37:g.697170A>G				Silent	SNP	NULL	p.Q221	ENST00000441152.2	37	c.663		10																																																																																			C10orf108	-	NULL	ENSG00000180525		0.622	PRR26-002	KNOWN	basic|appris_principal	protein_coding	C10orf108	HGNC	protein_coding	OTTHUMT00000046386.1	17	0.00	0	A			697170	697170	+1	no_errors	ENST00000441152	ensembl	human	known	69_37n	silent	8	33.33	4	SNP	0.000	G
C18orf42	642597	genome.wustl.edu	37	18	5145612	5145612	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr18:5145612G>T	ENST00000434239.3	-	2	330	c.159C>A	c.(157-159)gaC>gaA	p.D53E	C18orf42_ENST00000580650.1_Missense_Mutation_p.D60E	NM_001145194.1	NP_001138666.1	P0CW23	CR042_HUMAN	chromosome 18 open reading frame 42	53																	GTTGGATGTGGTCCCGGTTGT	0.498																																						dbGAP											0													245.0	207.0	218.0					18																	5145612		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS54179.1	18p11.31	2012-10-24			ENSG00000231824	ENSG00000231824			28285	protein-coding gene	gene with protein product							Standard	NM_001145194		Approved		uc010wzc.1	P0CW23	OTTHUMG00000178457	ENST00000434239.3:c.159C>A	18.37:g.5145612G>T	ENSP00000399075:p.Asp53Glu			Missense_Mutation	SNP	pfam_Kinase-A_anchor_RI-RII-bd_dom	p.D53E	ENST00000434239.3	37	c.159	CCDS54179.1	18	.	.	.	.	.	.	.	.	.	.	G	2.874	-0.233266	0.05983	.	.	ENSG00000231824	ENST00000434239	.	.	.	5.32	3.4	0.38934	.	.	.	.	.	T	0.30603	0.0770	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.18967	-1.0320	7	0.34782	T	0.22	.	9.7656	0.40559	0.0808:0.1396:0.7796:0.0	.	53	P0CW23	CR042_HUMAN	E	53	.	ENSP00000399075:D53E	D	-	3	2	C18orf42	5135612	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.188000	0.09642	0.631000	0.30412	0.655000	0.94253	GAC	C18orf42	-	NULL	ENSG00000231824		0.498	C18orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf42	HGNC	protein_coding	OTTHUMT00000442071.1	41	0.00	0	G	NM_001145194		5145612	5145612	-1	no_errors	ENST00000434239	ensembl	human	known	69_37n	missense	30	25.00	10	SNP	0.004	T
CASQ2	845	genome.wustl.edu	37	1	116280880	116280880	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr1:116280880T>C	ENST00000261448.5	-	4	736	c.497A>G	c.(496-498)aAa>aGa	p.K166R	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	166					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GCCAATGAGTTTGATGTAGTC	0.453																																						dbGAP											0													227.0	201.0	210.0					1																	116280880		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.497A>G	1.37:g.116280880T>C	ENSP00000261448:p.Lys166Arg		B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.K166R	ENST00000261448.5	37	c.497	CCDS884.1	1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498101	0.26861	.	.	ENSG00000118729	ENST00000261448;ENST00000446755	T	0.78595	-1.19	6.03	4.91	0.64330	Thioredoxin-like fold (2);	0.110541	0.64402	D	0.000005	T	0.48732	0.1516	N	0.16307	0.4	0.46901	D	0.999241	B	0.21688	0.059	B	0.28553	0.091	T	0.54364	-0.8305	10	0.45353	T	0.12	-23.3058	8.0742	0.30708	0.0:0.1447:0.0:0.8553	.	166	O14958	CASQ2_HUMAN	R	166	ENSP00000261448:K166R	ENSP00000261448:K166R	K	-	2	0	CASQ2	116082403	1.000000	0.71417	0.999000	0.59377	0.698000	0.40448	2.146000	0.42216	2.308000	0.77769	0.533000	0.62120	AAA	CASQ2	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000118729		0.453	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	HGNC	protein_coding	OTTHUMT00000033091.1	51	0.00	0	T	NM_001232		116280880	116280880	-1	no_errors	ENST00000261448	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	1.000	C
CDC27	996	genome.wustl.edu	37	17	45234397	45234397	+	Missense_Mutation	SNP	G	G	A	rs7350908		TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr17:45234397G>A	ENST00000066544.3	-	7	817	c.724C>T	c.(724-726)Cct>Tct	p.P242S	CDC27_ENST00000446365.2_Missense_Mutation_p.P181S|CDC27_ENST00000527547.1_Missense_Mutation_p.P242S|CDC27_ENST00000531206.1_Missense_Mutation_p.P242S|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	242					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACAGTATCAGGTGAAATTACA	0.363																																						dbGAP											0													44.0	48.0	47.0					17																	45234397		2191	4293	6484	-	-	-	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.724C>T	17.37:g.45234397G>A	ENSP00000066544:p.Pro242Ser		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P242S	ENST00000066544.3	37	c.724	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407694	0.42715	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67523	-0.26;-0.27;0.01;-0.27;0.49	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.26195	0.0;0.014;0.0;0.144	B;B;B;B	0.20955	0.001;0.008;0.001;0.032	T	0.50004	-0.8878	10	0.06099	T	0.92	-16.7932	16.7505	0.85484	0.0:0.0:1.0:0.0	rs7350908;rs52796638;rs7350908	181;242;242;242	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	242;242;181;242;242	ENSP00000066544:P242S;ENSP00000434614:P242S;ENSP00000392802:P181S;ENSP00000437339:P242S;ENSP00000432105:P242S	ENSP00000066544:P242S	P	-	1	0	CDC27	42589396	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.436000	0.80404	2.555000	0.86185	0.460000	0.39030	CCT	CDC27	-	NULL	ENSG00000004897		0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	37	0.00	0	G			45234397	45234397	-1	no_errors	ENST00000531206	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	1.000	A
CNTNAP3	79937	genome.wustl.edu	37	9	39074000	39074000	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr9:39074000C>A	ENST00000297668.6	-	24	3827	c.3754G>T	c.(3754-3756)Gca>Tca	p.A1252S	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.A1171S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1252					cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATCACCACTGCTATCACACCT	0.378																																						dbGAP											0													6.0	7.0	7.0					9																	39074000		860	1849	2709	-	-	-	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3754G>T	9.37:g.39074000C>A	ENSP00000297668:p.Ala1252Ser		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A1252S	ENST00000297668.6	37	c.3754	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383134	0.42207	.	.	ENSG00000106714	ENST00000297668;ENST00000377656	T;T	0.68479	-0.33;-0.33	2.97	2.97	0.34412	.	.	.	.	.	T	0.74023	0.3662	M	0.81802	2.56	0.80722	D	1	P;D	0.56035	0.575;0.974	B;P	0.54100	0.12;0.742	T	0.76242	-0.3031	9	0.56958	D	0.05	.	8.7322	0.34505	0.2269:0.7731:0.0:0.0	.	1171;1252	A6NC89;Q9BZ76	.;CNTP3_HUMAN	S	1252;1171	ENSP00000297668:A1252S;ENSP00000366884:A1171S	ENSP00000297668:A1252S	A	-	1	0	CNTNAP3	39064000	1.000000	0.71417	0.996000	0.52242	0.689000	0.40095	3.307000	0.51888	1.660000	0.50760	0.485000	0.47835	GCA	CNTNAP3	-	NULL	ENSG00000106714		0.378	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	25	0.00	0	C	NM_033655		39074000	39074000	-1	no_errors	ENST00000297668	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	1.000	A
CSH2	1443	genome.wustl.edu	37	17	61949664	61949664	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr17:61949664C>T	ENST00000392886.2	-	5	627	c.476G>A	c.(475-477)cGc>cAc	p.R159H	CSH2_ENST00000560142.1_Missense_Mutation_p.R102H|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R64H	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	159						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CCCAGTCCGGCGGCTGCCGTC	0.547																																						dbGAP											0													78.0	80.0	80.0					17																	61949664		2203	4297	6500	-	-	-	SO:0001583	missense	0			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.476G>A	17.37:g.61949664C>T	ENSP00000376623:p.Arg159His		P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R159H	ENST00000392886.2	37	c.476	CCDS42369.1	17	.	.	.	.	.	.	.	.	.	.	N	5.721	0.317605	0.10845	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;D	0.89050	-2.46;-2.35	3.97	1.95	0.26073	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.988395	0.08248	N	0.975119	T	0.77011	0.4068	N	0.14661	0.345	0.09310	N	0.999994	B;B;B	0.25719	0.0;0.0;0.132	B;B;B	0.14578	0.001;0.001;0.011	T	0.64993	-0.6276	10	0.52906	T	0.07	.	3.6135	0.08069	0.0934:0.1698:0.5627:0.1741	.	159;159;64	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	H	64;159	ENSP00000308396:R64H;ENSP00000376623:R159H	ENSP00000308396:R64H	R	-	2	0	CSH2	59303396	0.362000	0.24980	0.994000	0.49952	0.004000	0.04260	0.498000	0.22530	0.339000	0.23719	-1.844000	0.00574	CGC	CSH2	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000213218		0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH2	HGNC	protein_coding	OTTHUMT00000417657.1	112	0.00	0	C	NM_020991		61949664	61949664	-1	no_errors	ENST00000392886	ensembl	human	known	69_37n	missense	91	18.75	21	SNP	0.895	T
DHDDS	79947	genome.wustl.edu	37	1	26774101	26774101	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr1:26774101T>A	ENST00000236342.7	+	6	585	c.492T>A	c.(490-492)aaT>aaA	p.N164K	DHDDS_ENST00000427245.2_Missense_Mutation_p.N164K|DHDDS_ENST00000360009.2_Missense_Mutation_p.N164K|DHDDS_ENST00000374185.3_Missense_Mutation_p.N164K|DHDDS_ENST00000526219.1_Missense_Mutation_p.N125K|DHDDS_ENST00000525682.2_Intron			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	164					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		AGATCAGCAATGCTGTGAGAG	0.498																																						dbGAP											0													146.0	134.0	138.0					1																	26774101		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.492T>A	1.37:g.26774101T>A	ENSP00000236342:p.Asn164Lys		B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like	p.N164K	ENST00000236342.7	37	c.492	CCDS282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.94|14.94	2.684521|2.684521	0.47991|0.47991	.|.	.|.	ENSG00000117682|ENSG00000117682	ENST00000416052|ENST00000374190;ENST00000374192;ENST00000427245;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000436153;ENST00000430232	.|T;T;T;T;T;T;T	.|0.76316	.|-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.93|5.93	2.35|2.35	0.29111|0.29111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66268|0.66268	0.2772|0.2772	L|L	0.41236|0.41236	1.265|1.265	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.27910	.|0.193;0.036;0.029	.|B;B;B	.|0.27796	.|0.083;0.039;0.023	T|T	0.58521|0.58521	-0.7622|-0.7622	5|10	.|0.35671	.|T	.|0.21	-17.519|-17.519	9.0724|9.0724	0.36500|0.36500	0.0:0.2104:0.0:0.7896|0.0:0.2104:0.0:0.7896	.|.	.|125;164;164	.|Q86SQ9-3;Q86SQ9;Q86SQ9-2	.|.;DHDDS_HUMAN;.	S|K	41|132;60;164;164;125;164;164;164;164;125	.|ENSP00000399177:N164K;ENSP00000236342:N164K;ENSP00000434219:N125K;ENSP00000363300:N164K;ENSP00000353104:N164K;ENSP00000436119:N164K;ENSP00000397584:N125K	.|ENSP00000236342:N164K	C|N	+|+	1|3	0|2	DHDDS|DHDDS	26646688|26646688	0.955000|0.955000	0.32602|0.32602	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.032000|0.032000	0.13732|0.13732	0.480000|0.480000	0.27534|0.27534	0.533000|0.533000	0.62120|0.62120	TGC|AAT	DHDDS	-	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like	ENSG00000117682		0.498	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHDDS	HGNC	protein_coding	OTTHUMT00000392504.1	28	0.00	0	T	NM_024887		26774101	26774101	+1	no_errors	ENST00000360009	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	A
DHX57	90957	genome.wustl.edu	37	2	39053707	39053707	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr2:39053707T>A	ENST00000295373.6	-	15	2890	c.2764A>T	c.(2764-2766)Atc>Ttc	p.I922F		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	922	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACATCATCGATGGTTATGGAT	0.393																																					Melanoma(191;1090 2095 4375 23729 47341)	dbGAP											0													166.0	149.0	155.0					2																	39053707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2764A>T	2.37:g.39053707T>A	ENSP00000295373:p.Ile922Phe		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I922F	ENST00000295373.6	37	c.2764	CCDS1800.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.1|28.1	4.886533|4.886533	0.91814|0.91814	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373	.|T	.|0.76316	.|-1.01	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Helicase, C-terminal (3);	.|0.000000	.|0.53938	.|D	.|0.000060	D|D	0.92296|0.92296	0.7556|0.7556	H|H	0.97611|0.97611	4.04|4.04	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.94933|0.94933	0.8084|0.8084	5|10	.|0.87932	.|D	.|0	.|.	15.3782|15.3782	0.74630|0.74630	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|922;922;314	.|Q6P158;B4DKW2;Q59G60	.|DHX57_HUMAN;.;.	L|F	245|922	.|ENSP00000295373:I922F	.|ENSP00000295373:I922F	H|I	-|-	2|1	0|0	DHX57|DHX57	38907211|38907211	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.970000|0.970000	0.65996|0.65996	7.930000|7.930000	0.87610|0.87610	2.026000|2.026000	0.59711|0.59711	0.460000|0.460000	0.39030|0.39030	CAT|ATC	DHX57	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000163214		0.393	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	53	0.00	0	T	NM_145646		39053707	39053707	-1	no_errors	ENST00000295373	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	A
DLG3	1741	genome.wustl.edu	37	X	69712379	69712379	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chrX:69712379A>G	ENST00000374360.3	+	12	1939	c.1706A>G	c.(1705-1707)aAg>aGg	p.K569R	DLG3_ENST00000542398.1_Missense_Mutation_p.K86R|DLG3_ENST00000374355.3_Missense_Mutation_p.K232R|DLG3_ENST00000194900.4_Missense_Mutation_p.K587R	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	569					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AGGGTGGAAAAGAAAGAAAGA	0.478																																						dbGAP											0													56.0	52.0	54.0					X																	69712379		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1706A>G	X.37:g.69712379A>G	ENSP00000363480:p.Lys569Arg		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.K587R	ENST00000374360.3	37	c.1760	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	A	2.084	-0.409924	0.04799	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.09	3.91	0.45181	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	N	0.03177	-0.4	0.58432	D	0.999995	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.17979	0.02;0.003;0.003	T	0.50268	-0.8848	9	.	.	.	.	9.6629	0.39965	0.8421:0.0:0.0:0.1579	.	86;232;569	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	R	587;569;232;86	ENSP00000194900:K587R;ENSP00000363480:K569R;ENSP00000363475:K232R;ENSP00000441393:K86R	.	K	+	2	0	DLG3	69629104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.761000	0.91691	0.734000	0.32515	0.486000	0.48141	AAG	DLG3	-	superfamily_SH3_domain,smart_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain	ENSG00000082458		0.478	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	HGNC	protein_coding	OTTHUMT00000057074.2	40	0.00	0	A	NM_021120		69712379	69712379	+1	no_errors	ENST00000194900	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	G
DOCK1	1793	genome.wustl.edu	37	10	129202640	129202640	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr10:129202640C>G	ENST00000280333.6	+	40	4115	c.4006C>G	c.(4006-4008)Cct>Gct	p.P1336A		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1336	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGGCCCAAGCCTGACTATTT	0.438																																						dbGAP											0													66.0	67.0	67.0					10																	129202640		1873	4108	5981	-	-	-	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4006C>G	10.37:g.129202640C>G	ENSP00000280333:p.Pro1336Ala		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.P1336A	ENST00000280333.6	37	c.4006		10	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893548	0.91889	.	.	ENSG00000150760	ENST00000280333	T	0.04758	3.56	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	M	0.79614	2.46	0.80722	D	1	D;D;D	0.89917	0.986;1.0;1.0	P;D;D	0.79108	0.885;0.992;0.956	T	0.00366	-1.1786	10	0.72032	D	0.01	.	18.8174	0.92081	0.0:1.0:0.0:0.0	.	1336;1402;1336	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	A	1336	ENSP00000280333:P1336A	ENSP00000280333:P1336A	P	+	1	0	DOCK1	129092630	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.529000	0.81952	2.746000	0.94184	0.655000	0.94253	CCT	DOCK1	-	NULL	ENSG00000150760		0.438	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	52	0.00	0	C	NM_001380		129202640	129202640	+1	no_errors	ENST00000280333	ensembl	human	known	69_37n	missense	35	27.08	13	SNP	1.000	G
EMILIN2	84034	genome.wustl.edu	37	18	2885065	2885065	+	Missense_Mutation	SNP	G	G	T	rs369600920		TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr18:2885065G>T	ENST00000254528.3	+	3	520	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	121					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TTGCCAAGAAGGTCCCAAAGA	0.502																																						dbGAP											0													98.0	90.0	93.0					18																	2885065		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.361G>T	18.37:g.2885065G>T	ENSP00000254528:p.Gly121Cys		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.G121C	ENST00000254528.3	37	c.361	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415705	0.83449	.	.	ENSG00000132205	ENST00000254528	T	0.40756	1.02	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.66096	0.2755	M	0.72894	2.215	0.53688	D	0.999977	D	0.89917	1.0	D	0.74674	0.984	T	0.64850	-0.6310	10	0.52906	T	0.07	-21.4655	20.1337	0.98010	0.0:0.0:1.0:0.0	.	121	Q9BXX0	EMIL2_HUMAN	C	121	ENSP00000254528:G121C	ENSP00000254528:G121C	G	+	1	0	EMILIN2	2875065	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.560000	0.67332	2.753000	0.94483	0.650000	0.86243	GGT	EMILIN2	-	NULL	ENSG00000132205		0.502	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	30	0.00	0	G	NM_032048		2885065	2885065	+1	no_errors	ENST00000254528	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	1.000	T
FAM120B	84498	genome.wustl.edu	37	6	170627674	170627674	+	Missense_Mutation	SNP	G	G	A	rs200974766		TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr6:170627674G>A	ENST00000476287.1	+	2	1304	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.R422Q|FAM120B_ENST00000540480.1_Missense_Mutation_p.R411Q	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	399					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G394fs*81(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAATCCAGGCGAGAAGTTCCC	0.522																																						dbGAP											1	Deletion - Frameshift(1)	kidney(1)											176.0	183.0	181.0					6																	170627674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1196G>A	6.37:g.170627674G>A	ENSP00000417970:p.Arg399Gln		B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	NULL	p.R422Q	ENST00000476287.1	37	c.1265	CCDS5314.1	6	.	.	.	.	.	.	.	.	.	.	A	2.066	-0.414128	0.04766	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.07327	3.2;3.2;3.21	3.4	-0.42	0.12336	.	0.952359	0.08707	N	0.905527	T	0.00384	0.0012	N	0.00142	-2.005	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43507	-0.9387	10	0.09843	T	0.71	0.0245	2.8934	0.05684	0.3552:0.0:0.3107:0.334	.	399;399	Q96EK7;F2Z2E1	F120B_HUMAN;.	Q	411;422;399	ENSP00000444125:R411Q;ENSP00000440125:R422Q;ENSP00000417970:R399Q	ENSP00000436640:R399Q	R	+	2	0	FAM120B	170469599	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.388000	0.07352	-0.375000	0.07955	-0.254000	0.11334	CGA	FAM120B	-	NULL	ENSG00000112584		0.522	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	42	0.00	0	G	NM_032448		170627674	170627674	+1	no_errors	ENST00000537664	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.000	A
FAM120B	84498	genome.wustl.edu	37	6	170627691	170627691	+	Missense_Mutation	SNP	T	T	A	rs9348265	byFrequency	TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr6:170627691T>A	ENST00000476287.1	+	2	1321	c.1213T>A	c.(1213-1215)Tca>Aca	p.S405T	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.S428T|FAM120B_ENST00000540480.1_Missense_Mutation_p.S417T	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	405					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G394fs*81(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TCCCATGTGTTCAGACCCTGA	0.532													A|||	475	0.0948482	0.0416	0.1182	5008	,	,		21707	0.1617		0.0636	False		,,,				2504	0.1135					dbGAP											1	Deletion - Frameshift(1)	kidney(1)											180.0	188.0	185.0					6																	170627691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1213T>A	6.37:g.170627691T>A	ENSP00000417970:p.Ser405Thr		B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	NULL	p.S428T	ENST00000476287.1	37	c.1282	CCDS5314.1	6	385	0.1762820512820513	103	0.20934959349593496	51	0.1408839779005525	107	0.18706293706293706	124	0.16358839050131926	A	0.010	-1.763501	0.00651	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.06371	3.35;3.31;3.32	3.25	-6.49	0.01890	.	1.838990	0.03926	N	0.284496	T	0.00524	0.0017	N	0.02802	-0.49	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45977	-0.9224	10	0.11485	T	0.65	-1.1854	3.9883	0.09525	0.4175:0.0:0.2314:0.3511	rs9348265	405;405	Q96EK7;F2Z2E1	F120B_HUMAN;.	T	417;428;405	ENSP00000444125:S417T;ENSP00000440125:S428T;ENSP00000417970:S405T	ENSP00000436640:S405T	S	+	1	0	FAM120B	170469616	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.266000	0.01171	-1.864000	0.01148	-1.053000	0.02334	TCA	FAM120B	-	NULL	ENSG00000112584		0.532	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	43	0.00	0	T	NM_032448		170627691	170627691	+1	no_errors	ENST00000537664	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	0.000	A
GART	2618	genome.wustl.edu	37	21	34889372	34889372	+	Silent	SNP	G	G	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr21:34889372G>T	ENST00000381831.3	-	16	2294	c.2031C>A	c.(2029-2031)gcC>gcA	p.A677A	GART_ENST00000543717.1_Silent_p.A229A|GART_ENST00000381839.3_Silent_p.A677A|GART_ENST00000381815.4_Silent_p.A677A	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	677	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TATGGGCAAAGGCTTTGACAT	0.453																																						dbGAP											0													126.0	119.0	121.0					21																	34889372		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2031C>A	21.37:g.34889372G>T			A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.A677	ENST00000381831.3	37	c.2031	CCDS13627.1	21																																																																																			GART	-	pfam_AIR_synth_C,superfamily_AIR_synth_C,tigrfam_PurM_cligase	ENSG00000159131		0.453	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	37	0.00	0	G	NM_000819		34889372	34889372	-1	no_errors	ENST00000381815	ensembl	human	known	69_37n	silent	18	14.29	3	SNP	0.976	T
HAP1	9001	genome.wustl.edu	37	17	39883371	39883371	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr17:39883371G>A	ENST00000310778.5	-	10	1466	c.1457C>T	c.(1456-1458)aCg>aTg	p.T486M	HAP1_ENST00000393939.2_Missense_Mutation_p.T409M|HAP1_ENST00000341193.5_Missense_Mutation_p.T417M|HAP1_ENST00000347901.4_Missense_Mutation_p.T434M|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	486	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCAGCCAGCGTCTCCTGGAA	0.572																																						dbGAP											0													31.0	33.0	33.0					17																	39883371		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1457C>T	17.37:g.39883371G>A	ENSP00000309392:p.Thr486Met		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.T486M	ENST00000310778.5	37	c.1457		17	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311900	0.40895	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.08546	3.08;3.15;3.08;3.08	3.61	2.64	0.31445	.	1.149600	0.06702	N	0.771685	T	0.17408	0.0418	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.71414	0.973;0.973;0.951;0.818	T	0.32107	-0.9919	10	0.87932	D	0	-2.2881	7.8197	0.29280	0.1226:0.0:0.8774:0.0	.	409;417;434;486	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	M	409;486;434;417	ENSP00000377513:T409M;ENSP00000309392:T486M;ENSP00000334002:T434M;ENSP00000343170:T417M	ENSP00000309392:T486M	T	-	2	0	HAP1	37136897	0.419000	0.25449	0.034000	0.17996	0.022000	0.10575	1.037000	0.30241	0.830000	0.34757	-0.224000	0.12420	ACG	HAP1	-	NULL	ENSG00000173805		0.572	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	24	0.00	0	G	NM_003949		39883371	39883371	-1	no_errors	ENST00000310778	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	0.099	A
KIAA0368	23392	genome.wustl.edu	37	9	114182309	114182309	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr9:114182309G>T	ENST00000338205.5	-	15	1766	c.1547C>A	c.(1546-1548)gCt>gAt	p.A516D	KIAA0368_ENST00000259335.4_Missense_Mutation_p.A694D			Q5VYK3	ECM29_HUMAN	KIAA0368	522					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATCTCCTGCAGCCAGTAGCAG	0.353																																						dbGAP											0													91.0	86.0	87.0					9																	114182309		1852	4097	5949	-	-	-	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1547C>A	9.37:g.114182309G>T	ENSP00000339889:p.Ala516Asp		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A694D	ENST00000338205.5	37	c.2081		9	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270700	0.80469	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.54675	0.56	5.46	5.46	0.80206	Armadillo-type fold (1);	0.112768	0.64402	D	0.000012	T	0.55784	0.1942	L	0.61218	1.895	0.80722	D	1	P	0.52577	0.954	B	0.42882	0.401	T	0.61486	-0.7053	10	0.52906	T	0.07	-1.1959	19.3174	0.94220	0.0:0.0:1.0:0.0	.	522	Q5VYK3	ECM29_HUMAN	D	516;694	ENSP00000259335:A694D	ENSP00000259335:A694D	A	-	2	0	KIAA0368	113222130	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.434000	0.97515	2.569000	0.86673	0.650000	0.86243	GCT	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.353	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	31	0.00	0	G	NM_014686		114182309	114182309	-1	no_errors	ENST00000259335	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	1.000	T
KLHL14	57565	genome.wustl.edu	37	18	30260233	30260233	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr18:30260233T>A	ENST00000359358.4	-	7	1925	c.1487A>T	c.(1486-1488)gAt>gTt	p.D496V		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	496						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGCCCAGACATCCATTACTGG	0.398																																						dbGAP											0													174.0	152.0	159.0					18																	30260233		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1487A>T	18.37:g.30260233T>A	ENSP00000352314:p.Asp496Val		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D496V	ENST00000359358.4	37	c.1487	CCDS32813.1	18	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166019	0.78339	.	.	ENSG00000197705	ENST00000359358	T	0.80304	-1.36	5.87	5.87	0.94306	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91583	0.7341	M	0.90198	3.095	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.93169	0.6564	10	0.87932	D	0	.	16.2674	0.82597	0.0:0.0:0.0:1.0	.	496	Q9P2G3	KLH14_HUMAN	V	496	ENSP00000352314:D496V	ENSP00000352314:D496V	D	-	2	0	KLHL14	28514231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.673000	0.83973	2.242000	0.73789	0.533000	0.62120	GAT	KLHL14	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197705		0.398	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	26	0.00	0	T			30260233	30260233	-1	no_errors	ENST00000359358	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	1.000	A
LRBA	987	genome.wustl.edu	37	4	151231452	151231452	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr4:151231452G>T	ENST00000357115.3	-	53	8054	c.7811C>A	c.(7810-7812)aCt>aAt	p.T2604N	LRBA_ENST00000535741.1_Missense_Mutation_p.T2593N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.T2593N	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2604						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTTGTCTGAAGTGATGACAAA	0.408																																						dbGAP											0													107.0	104.0	105.0					4																	151231452		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7811C>A	4.37:g.151231452G>T	ENSP00000349629:p.Thr2604Asn		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.T2604N	ENST00000357115.3	37	c.7811	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.425849|4.425849	0.83667|0.83667	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115	.|T;T;T	.|0.72051	.|-0.62;-0.62;-0.62	4.88|4.88	4.88|4.88	0.63580|0.63580	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.236211	.|0.42294	.|D	.|0.000724	D|D	0.84270|0.84270	0.5435|0.5435	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|0.999;0.998;0.705;1.0	.|D;D;P;D	.|0.87578	.|0.991;0.994;0.479;0.998	D|D	0.86293|0.86293	0.1675|0.1675	5|10	.|0.72032	.|D	.|0.01	.|.	18.4099|18.4099	0.90548|0.90548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2604;2593;2593;499	.|P50851;F5H1X8;P50851-2;Q68D03	.|LRBA_HUMAN;.;.;.	I|N	1246|2593;2593;2604	.|ENSP00000446299:T2593N;ENSP00000421552:T2593N;ENSP00000349629:T2604N	.|ENSP00000349629:T2604N	L|T	-|-	1|2	0|0	LRBA|LRBA	151450902|151450902	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	9.813000|9.813000	0.99286|0.99286	2.411000|2.411000	0.81874|0.81874	0.563000|0.563000	0.77884|0.77884	CTT|ACT	LRBA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198589		0.408	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	47	0.00	0	G			151231452	151231452	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	12	20.00	3	SNP	1.000	T
MED13	9969	genome.wustl.edu	37	17	60043939	60043939	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr17:60043939G>T	ENST00000397786.2	-	19	4341	c.4265C>A	c.(4264-4266)gCa>gAa	p.A1422E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1422					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCTTTGATGCAGTAGATCC	0.393																																						dbGAP											0													127.0	114.0	118.0					17																	60043939		1872	4121	5993	-	-	-	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4265C>A	17.37:g.60043939G>T	ENSP00000380888:p.Ala1422Glu		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.A1422E	ENST00000397786.2	37	c.4265	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365063	0.41902	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.68765	-0.35	5.48	5.48	0.80851	.	0.220796	0.46442	D	0.000288	T	0.59321	0.2185	L	0.41710	1.295	0.58432	D	0.999998	B	0.22683	0.073	B	0.12837	0.008	T	0.53878	-0.8376	10	0.20046	T	0.44	-26.6646	19.363	0.94448	0.0:0.0:1.0:0.0	.	1422	Q9UHV7	MED13_HUMAN	E	1422;1421	ENSP00000380888:A1422E	ENSP00000262436:A1421E	A	-	2	0	MED13	57398721	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.031000	0.64134	2.584000	0.87258	0.563000	0.77884	GCA	MED13	-	NULL	ENSG00000108510		0.393	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	43	0.00	0	G	NM_005121		60043939	60043939	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	T
MIER1	57708	genome.wustl.edu	37	1	67450388	67450388	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr1:67450388delA	ENST00000355356.3	+	13	1493	c.1344delA	c.(1342-1344)acafs	p.T448fs	MIER1_ENST00000371016.1_Intron|MIER1_ENST00000357692.2_Frame_Shift_Del_p.T465fs|MIER1_ENST00000371018.3_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000401041.1_Frame_Shift_Del_p.T501fs|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401042.3_Intron	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	448					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GTTATGAAACAGATAACCTTA	0.378																																						dbGAP											0													98.0	91.0	93.0					1																	67450388		1854	4102	5956	-	-	-	SO:0001589	frameshift_variant	0				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.1344delA	1.37:g.67450388delA	ENSP00000347514:p.Thr448fs		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.D502fs	ENST00000355356.3	37	c.1503	CCDS41348.1	1																																																																																			MIER1	-	NULL	ENSG00000198160		0.378	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	39	0.00	0	A	NM_020948		67450388	67450388	+1	no_errors	ENST00000401041	ensembl	human	known	69_37n	frame_shift_del	29	29.27	12	DEL	0.338	-
MTMR4	9110	genome.wustl.edu	37	17	56591766	56591766	+	Intron	SNP	C	C	G			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr17:56591766C>G	ENST00000323456.5	-	3	128				MTMR4_ENST00000579925.1_Intron	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGTCAGGCTCATGGTCGCGG	0.751																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.4-1464G>C	17.37:g.56591766C>G			D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	NULL	p.M1I	ENST00000323456.5	37	c.3	CCDS11608.1	17																																																																																			MTMR4	-	NULL	ENSG00000108389		0.751	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	22	0.00	0	C	NM_004687		56591766	56591766	-1	no_errors	ENST00000582390	ensembl	human	known	69_37n	missense	21	24.14	7	SNP	1.000	G
NACAD	23148	genome.wustl.edu	37	7	45123881	45123881	+	Missense_Mutation	SNP	C	C	T	rs61740891	byFrequency	TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr7:45123881C>T	ENST00000490531.2	-	2	1917	c.1898G>A	c.(1897-1899)gGc>gAc	p.G633D		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	633					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TAAGGTGAGGCCCTCTTCAGC	0.597																																						dbGAP											0													5.0	6.0	6.0					7																	45123881		653	1543	2196	-	-	-	SO:0001583	missense	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1898G>A	7.37:g.45123881C>T	ENSP00000420477:p.Gly633Asp			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.G633D	ENST00000490531.2	37	c.1898	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.479272	0.01035	.	.	ENSG00000136274	ENST00000490531	T	0.15017	2.46	1.84	-3.68	0.04463	.	0.657660	0.11464	U	0.561462	T	0.07007	0.0178	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	10	0.11182	T	0.66	.	0.672	0.00860	0.245:0.2849:0.1227:0.3473	.	633	O15069	NACAD_HUMAN	D	633	ENSP00000420477:G633D	ENSP00000420477:G633D	G	-	2	0	NACAD	45090406	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-4.204000	0.00274	-3.230000	0.00209	-2.620000	0.00156	GGC	NACAD	-	NULL	ENSG00000136274		0.597	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	27	0.00	0	C	NM_001146334		45123881	45123881	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	0.000	T
NACAD	23148	genome.wustl.edu	37	7	45123888	45123888	+	Missense_Mutation	SNP	C	C	T	rs201317846		TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr7:45123888C>T	ENST00000490531.2	-	2	1910	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	631					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						AGGCCCTCTTCAGCCTGCTGG	0.602																																						dbGAP											0													5.0	6.0	5.0					7																	45123888		652	1532	2184	-	-	-	SO:0001583	missense	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1891G>A	7.37:g.45123888C>T	ENSP00000420477:p.Glu631Lys			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.E631K	ENST00000490531.2	37	c.1891	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	c	4.341	0.062704	0.08388	.	.	ENSG00000136274	ENST00000490531	T	0.13089	2.62	1.84	1.84	0.25277	.	0.000000	0.31821	U	0.007009	T	0.08044	0.0201	L	0.34521	1.04	0.09310	N	1	D	0.54772	0.968	B	0.40285	0.325	T	0.29882	-0.9997	10	0.22706	T	0.39	.	6.2595	0.20891	0.0:0.6821:0.3179:0.0	.	631	O15069	NACAD_HUMAN	K	631	ENSP00000420477:E631K	ENSP00000420477:E631K	E	-	1	0	NACAD	45090413	0.004000	0.15560	0.010000	0.14722	0.045000	0.14185	1.319000	0.33655	1.011000	0.39340	0.306000	0.20318	GAA	NACAD	-	NULL	ENSG00000136274		0.602	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	29	0.00	0	C	NM_001146334		45123888	45123888	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.010	T
NRP2	8828	genome.wustl.edu	37	2	206605294	206605294	+	Missense_Mutation	SNP	G	G	T	rs367956491		TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr2:206605294G>T	ENST00000357785.5	+	8	1229	c.1198G>T	c.(1198-1200)Gct>Tct	p.A400S	NRP2_ENST00000360409.3_Missense_Mutation_p.A400S|NRP2_ENST00000272849.3_Missense_Mutation_p.A400S|NRP2_ENST00000540841.1_Missense_Mutation_p.A400S|NRP2_ENST00000357118.4_Missense_Mutation_p.A400S|NRP2_ENST00000540178.1_Missense_Mutation_p.A400S|NRP2_ENST00000355117.4_Missense_Mutation_p.A400S|NRP2_ENST00000417189.1_Missense_Mutation_p.A400S|NRP2_ENST00000412873.2_Missense_Mutation_p.A400S			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAAGCTCCACGCTCCACTGCT	0.522																																						dbGAP											0													136.0	115.0	122.0					2																	206605294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1198G>T	2.37:g.206605294G>T	ENSP00000350432:p.Ala400Ser		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.A400S	ENST00000357785.5	37	c.1198	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	G	3.650	-0.071700	0.07228	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	5.97	0.252	0.15545	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.785418	0.12843	N	0.434636	D	0.90068	0.6898	N	0.03050	-0.425	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001;0.0	B;B;B;B;B;B	0.08055	0.001;0.001;0.001;0.002;0.002;0.003	D	0.83654	0.0157	10	0.16420	T	0.52	-0.1407	2.7194	0.05196	0.3323:0.116:0.075:0.4767	.	400;400;400;400;400;400	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	S	400	ENSP00000353582:A400S;ENSP00000439658:A400S;ENSP00000439261:A400S;ENSP00000347238:A400S;ENSP00000387519:A400S;ENSP00000349632:A400S;ENSP00000350432:A400S;ENSP00000407626:A400S;ENSP00000272849:A400S	ENSP00000272849:A400S	A	+	1	0	NRP2	206313539	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	0.419000	0.21247	-0.181000	0.10619	-0.897000	0.02905	GCT	NRP2	-	pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000118257		0.522	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	43	0.00	0	G			206605294	206605294	+1	no_errors	ENST00000360409	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	0.000	T
PHLDB2	90102	genome.wustl.edu	37	3	111604096	111604096	+	Missense_Mutation	SNP	A	A	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr3:111604096A>T	ENST00000431670.2	+	2	1583	c.1172A>T	c.(1171-1173)gAt>gTt	p.D391V	PHLDB2_ENST00000393925.3_Missense_Mutation_p.D391V|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D391V|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D418V|PHLDB2_ENST00000478922.1_Missense_Mutation_p.D391V|PHLDB2_ENST00000481953.1_Missense_Mutation_p.D391V|PHLDB2_ENST00000477695.1_Missense_Mutation_p.D391V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	391						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GTGGAATTTGATGAGGCAGAT	0.507																																						dbGAP											0													78.0	79.0	79.0					3																	111604096		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1172A>T	3.37:g.111604096A>T	ENSP00000405405:p.Asp391Val		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D391V	ENST00000431670.2	37	c.1172	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656747	0.67586	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.36340	1.26;1.33;1.28;1.29;1.33;1.28	5.78	5.78	0.91487	.	0.225686	0.41396	D	0.000885	T	0.45577	0.1349	L	0.38531	1.155	0.58432	D	0.999993	P;D;D;P;P	0.89917	0.612;1.0;0.996;0.853;0.937	B;D;D;P;P	0.81914	0.203;0.995;0.944;0.504;0.504	T	0.27191	-1.0081	10	0.20519	T	0.43	.	10.6005	0.45365	0.8562:0.0:0.0:0.1437	.	391;391;391;391;418	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	V	418;418;391;391;391;391;391;391;391	ENSP00000377500:D418V;ENSP00000405405:D391V;ENSP00000405292:D391V;ENSP00000418296:D391V;ENSP00000377502:D391V;ENSP00000418319:D391V	ENSP00000352764:D418V	D	+	2	0	PHLDB2	113086786	1.000000	0.71417	0.987000	0.45799	0.879000	0.50718	5.020000	0.64066	2.333000	0.79357	0.533000	0.62120	GAT	PHLDB2	-	NULL	ENSG00000144824		0.507	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	30	0.00	0	A	NM_145753		111604096	111604096	+1	no_errors	ENST00000393925	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.997	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	24	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	10	23.08	3	SNP	1.000	G
PLCE1	51196	genome.wustl.edu	37	10	95791183	95791183	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr10:95791183A>G	ENST00000371380.3	+	1	615	c.380A>G	c.(379-381)aAc>aGc	p.N127S	PLCE1_ENST00000260766.3_Missense_Mutation_p.N127S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	127					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAAATGTACAACTCTGTTGCT	0.408																																						dbGAP											0													74.0	68.0	70.0					10																	95791183		1878	4093	5971	-	-	-	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.380A>G	10.37:g.95791183A>G	ENSP00000360431:p.Asn127Ser		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.N127S	ENST00000371380.3	37	c.380	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	A	3.882	-0.025735	0.07589	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.71461	-0.57;-0.57	4.67	3.45	0.39498	.	1.527780	0.04074	N	0.308498	T	0.53126	0.1777	N	0.14661	0.345	0.21527	N	0.999657	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.42649	-0.9439	10	0.35671	T	0.21	.	3.8706	0.09035	0.6626:0.1325:0.0769:0.1281	.	127;127	B7ZM61;Q9P212	.;PLCE1_HUMAN	S	127	ENSP00000260766:N127S;ENSP00000360431:N127S	ENSP00000260766:N127S	N	+	2	0	PLCE1	95781173	0.047000	0.20315	0.849000	0.33467	0.198000	0.23893	0.731000	0.26058	1.875000	0.54330	0.533000	0.62120	AAC	PLCE1	-	NULL	ENSG00000138193		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	24	0.00	0	A	NM_016341		95791183	95791183	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.278	G
PPP1R42	286187	genome.wustl.edu	37	8	67923049	67923049	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr8:67923049C>A	ENST00000324682.5	-	5	597	c.453G>T	c.(451-453)ttG>ttT	p.L151F	PPP1R42_ENST00000517834.1_5'Flank|PPP1R42_ENST00000522909.1_Missense_Mutation_p.L151F	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	151					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TGCTGATATTCAATATACAGA	0.318																																						dbGAP											0													60.0	63.0	62.0					8																	67923049		2203	4288	6491	-	-	-	SO:0001583	missense	0			BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.453G>T	8.37:g.67923049C>A	ENSP00000315035:p.Leu151Phe			Missense_Mutation	SNP	pfam_Leu-rich_rpt	p.L151F	ENST00000324682.5	37	c.453	CCDS34902.1	8	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282563	0.59867	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.61980	0.5;0.06	5.74	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.81118	0.4756	M	0.90595	3.13	0.48511	D	0.999665	D	0.89917	1.0	D	0.97110	1.0	D	0.84739	0.0750	10	0.87932	D	0	-2.6755	11.9867	0.53151	0.0:0.7899:0.0:0.2101	.	151	Q7Z4L9-2	.	F	151	ENSP00000429721:L151F;ENSP00000315035:L151F	ENSP00000315035:L151F	L	-	3	2	LRRC67	68085603	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.724000	0.25954	1.443000	0.47586	-0.218000	0.12543	TTG	PPP1R42	-	NULL	ENSG00000178125		0.318	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R42	HGNC	protein_coding	OTTHUMT00000380034.2	38	0.00	0	C	NM_001013626		67923049	67923049	-1	no_errors	ENST00000522909	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	1.000	A
LRRC14	9684	genome.wustl.edu	37	8	145742025	145742025	+	5'Flank	SNP	G	G	A			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr8:145742025G>A	ENST00000292524.1	+	0	0				CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Missense_Mutation_p.P160S|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGGAGCTGTGGAGGCTCATCA	0.627																																						dbGAP											0													26.0	29.0	28.0					8																	145742025		1955	4133	6088	-	-	-	SO:0001631	upstream_gene_variant	0			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742025G>A	Exception_encountered		A8K0A8|D3DWM8	RNA	SNP	-	NULL	ENST00000292524.1	37	NULL	CCDS6432.1	8																																																																																			RECQL4	-	-	ENSG00000160957		0.627	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL4	HGNC	protein_coding	OTTHUMT00000382494.1	59	0.00	0	G	NM_014665		145742025	145742025	-1	no_errors	ENST00000428558	ensembl	human	known	69_37n	rna	43	23.21	13	SNP	0.000	A
RELL2	285613	genome.wustl.edu	37	5	141017339	141017339	+	5'UTR	SNP	A	A	C	rs976552	byFrequency	TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr5:141017339A>C	ENST00000297164.3	+	0	747				RELL2_ENST00000444782.1_Intron|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000518856.1_Intron|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000521367.1_Intron	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2						positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGGTGGGAGAAACCAAAA	0.667													A|||	969	0.19349	0.1301	0.353	5008	,	,		14796	0.1369		0.2227	False		,,,				2504	0.1943					dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.-454A>C	5.37:g.141017339A>C			D3DQE2|Q6P4E7|Q6UXY2	RNA	SNP	-	NULL	ENST00000297164.3	37	NULL	CCDS4265.1	5																																																																																			RELL2	-	-	ENSG00000164620		0.667	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELL2	HGNC	protein_coding	OTTHUMT00000251807.2	9	0.00	0	A	NM_173828		141017339	141017339	+1	no_errors	ENST00000518025	ensembl	human	known	69_37n	rna	9	57.14	12	SNP	0.593	C
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037835	10037835	+	RNA	SNP	T	T	C			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chrY:10037835T>C	ENST00000515896.1	+	0	72									RNA, 5.8S ribosomal pseudogene 6																		TTAATGTGAATTGCAGGACAC	0.517																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037835T>C				RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.517	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		42	0.00	0	T			10037835	10037835	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	36	12.20	5	SNP	1.000	C
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC				RNA	DEL	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		25	0.00	0	C			10037863	10037863	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	15	13.33	4	DEL	1.000	-
RSG1	79363	genome.wustl.edu	37	1	16560107	16560107	+	Splice_Site	SNP	C	C	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr1:16560107C>T	ENST00000375599.3	-	2	684	c.265G>A	c.(265-267)Ggc>Agc	p.G89S		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	89	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						TCCCACTCACCGGTGGTCTCG	0.617																																						dbGAP											0													71.0	69.0	70.0					1																	16560107		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.265+1G>A	1.37:g.16560107C>T			Q5TEV7	Missense_Mutation	SNP	pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase	p.G89S	ENST00000375599.3	37	c.265	CCDS171.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.050305|5.050305	0.93740|0.93740	.|.	.|.	ENSG00000132881|ENSG00000132881	ENST00000375599|ENST00000434014	T|.	0.78364|.	-1.17|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Mitochondrial Rho-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77745|0.77745	0.4176|0.4176	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|T	0.78066|0.78066	-0.2349|-0.2349	9|5	.|.	.|.	.|.	-28.6654|-28.6654	16.7079|16.7079	0.85377|0.85377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	89|.	Q9BU20|.	RSG1_HUMAN|.	S|Q	89|61	ENSP00000364749:G89S|.	.|.	G|R	-|-	1|2	0|0	RSG1|RSG1	16432694|16432694	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.610000|0.610000	0.37248|0.37248	6.877000|6.877000	0.75562|0.75562	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GGC|CGG	RSG1	-	pfam_MIRO-like,pfam_Small_GTPase	ENSG00000132881		0.617	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSG1	HGNC	protein_coding	OTTHUMT00000006279.2	16	0.00	0	C	NM_030907	Missense_Mutation	16560107	16560107	-1	no_errors	ENST00000375599	ensembl	human	known	69_37n	missense	17	37.04	10	SNP	1.000	T
SEC23A	10484	genome.wustl.edu	37	14	39545203	39545203	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr14:39545203G>T	ENST00000307712.6	-	8	1440	c.923C>A	c.(922-924)aCa>aAa	p.T308K	SEC23A_ENST00000545328.2_Missense_Mutation_p.T279K|SEC23A_ENST00000537403.1_Missense_Mutation_p.T106K|SEC23A_ENST00000536508.1_Missense_Mutation_p.T182K	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	308					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCTTATAGGTGTCTTCAACTC	0.393																																						dbGAP											0													96.0	85.0	89.0					14																	39545203		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.923C>A	14.37:g.39545203G>T	ENSP00000306881:p.Thr308Lys		B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.T308K	ENST00000307712.6	37	c.923	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793234	0.50102	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.53	4.61	0.57282	Sec23/Sec24, trunk domain (1);	0.284613	0.37809	N	0.001938	T	0.61776	0.2374	N	0.19112	0.55	0.44061	D	0.996807	B;B;B;B	0.12013	0.005;0.0;0.0;0.0	B;B;B;B	0.16722	0.006;0.009;0.009;0.016	T	0.55736	-0.8094	10	0.28530	T	0.3	-8.7244	8.9821	0.35972	0.2232:0.0:0.7768:0.0	.	196;279;182;308	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	K	106;308;182;279;196	ENSP00000444193:T106K;ENSP00000306881:T308K;ENSP00000437715:T182K;ENSP00000445393:T279K	ENSP00000306881:T308K	T	-	2	0	SEC23A	38614954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.578000	0.46051	1.402000	0.46780	0.655000	0.94253	ACA	SEC23A	-	pfam_Sec23/24_trunk_dom	ENSG00000100934		0.393	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2	47	0.00	0	G			39545203	39545203	-1	no_errors	ENST00000307712	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	T
SLC25A3P1	163742	genome.wustl.edu	37	1	53904350	53904350	+	RNA	SNP	G	G	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr1:53904350G>T	ENST00000566100.1	-	0	888									solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1																		TGGCCTTGGTGCACTGGCTCT	0.617																																						dbGAP											0																																										-	-	-			0					1p32.3	2013-05-22	2012-03-29		ENSG00000236253	ENSG00000236253		"""Solute carriers"""	26869	pseudogene	pseudogene			"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 pseudogene 1"""				Standard	NR_002314		Approved	FLJ40434	uc009vzj.3		OTTHUMG00000008078		1.37:g.53904350G>T				RNA	SNP	-	NULL	ENST00000566100.1	37	NULL		1																																																																																			SLC25A3P1	-	-	ENSG00000236253		0.617	SLC25A3P1-002	KNOWN	basic	processed_transcript	SLC25A3P1	HGNC	pseudogene	OTTHUMT00000422839.1	33	0.00	0	G	NM_178501		53904350	53904350	-1	no_errors	ENST00000566100	ensembl	human	known	69_37n	rna	22	15.38	4	SNP	1.000	T
TMPRSS3	64699	genome.wustl.edu	37	21	43792094	43792094	+	3'UTR	SNP	C	C	A	rs35447393	byFrequency	TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr21:43792094C>A	ENST00000291532.3	-	0	3097				TMPRSS3_ENST00000380399.1_3'UTR|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_3'UTR|TMPRSS3_ENST00000433957.2_3'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TTAAACGAGTCATTCCTAGAT	0.403													C|||	21	0.00419329	0.0008	0.0043	5008	,	,		21896	0.0		0.0159	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.*777G>T	21.37:g.43792094C>A			D3DSJ6|Q5USC7|Q6ZMC3	RNA	SNP	-	NULL	ENST00000291532.3	37	NULL	CCDS13686.1	21																																																																																			TMPRSS3	-	-	ENSG00000160183		0.403	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS3	HGNC	protein_coding	OTTHUMT00000195347.1	11	0.00	0	C			43792094	43792094	-1	no_errors	ENST00000474596	ensembl	human	putative	69_37n	rna	6	60.00	9	SNP	0.001	A
TP53BP1	7158	genome.wustl.edu	37	15	43748472	43748472	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr15:43748472T>A	ENST00000263801.3	-	12	2571	c.2319A>T	c.(2317-2319)gaA>gaT	p.E773D	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E778D|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E778D|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E778D	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	773					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTCCAAAGGTTCACAAGAAA	0.453								Other conserved DNA damage response genes																														dbGAP											0													72.0	72.0	72.0					15																	43748472		2201	4298	6499	-	-	-	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2319A>T	15.37:g.43748472T>A	ENSP00000263801:p.Glu773Asp		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.E778D	ENST00000263801.3	37	c.2334	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	T	17.49	3.402336	0.62288	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.11712	3.65;3.65;3.65;3.65;2.75	4.73	2.44	0.29823	.	0.201244	0.34879	N	0.003609	T	0.13628	0.0330	N	0.19112	0.55	0.33983	D	0.648235	P;D;D;D	0.67145	0.914;0.994;0.996;0.996	P;D;D;D	0.76071	0.528;0.97;0.987;0.987	T	0.23440	-1.0188	10	0.33940	T	0.23	-14.3686	5.1652	0.15082	0.0:0.2827:0.0:0.7173	.	778;773;778;778	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	D	773;778;778;778;778	ENSP00000263801:E773D;ENSP00000371475:E778D;ENSP00000371470:E778D;ENSP00000393497:E778D;ENSP00000388028:E778D	ENSP00000263801:E773D	E	-	3	2	TP53BP1	41535764	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.284000	0.18864	0.924000	0.37069	0.460000	0.39030	GAA	TP53BP1	-	NULL	ENSG00000067369		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	27	0.00	0	T			43748472	43748472	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	1.000	A
CFAP46	54777	genome.wustl.edu	37	10	134624471	134624471	+	Silent	SNP	C	C	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr10:134624471C>T	ENST00000368586.5	-	56	7666	c.7566G>A	c.(7564-7566)gaG>gaA	p.E2522E	TTC40_ENST00000263170.5_Silent_p.E683E	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCTCCACGCTCTCCATGTGCC	0.662																																						dbGAP											0													79.0	54.0	62.0					10																	134624471		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000368586.5:c.7566G>A	10.37:g.134624471C>T				Silent	SNP	NULL	p.E683	ENST00000368586.5	37	c.2049	CCDS58101.1	10																																																																																			TTC40	-	NULL	ENSG00000171811		0.662	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	20	0.00	0	C			134624471	134624471	-1	no_errors	ENST00000263170	ensembl	human	known	69_37n	silent	15	21.05	4	SNP	0.000	T
TTN	7273	genome.wustl.edu	37	2	179424989	179424989	+	Missense_Mutation	SNP	G	G	T	rs398124458		TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr2:179424989G>T	ENST00000591111.1	-	276	81171	c.80947C>A	c.(80947-80949)Cgt>Agt	p.R26983S	TTN_ENST00000589042.1_Missense_Mutation_p.R28624S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26056S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19559S|TTN_ENST00000359218.5_Missense_Mutation_p.R19684S|TTN_ENST00000342175.6_Missense_Mutation_p.R19751S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26983	Fibronectin type-III 96. {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)			GCATAAACACGATATTCATAT	0.413																																						dbGAP											0													105.0	103.0	104.0					2																	179424989		1921	4128	6049	-	-	-	SO:0001583	missense	0			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.80947C>A	2.37:g.179424989G>T	ENSP00000465570:p.Arg26983Ser		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R26056S	ENST00000591111.1	37	c.78166		2	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941611	0.34283	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	6.08	4.26	0.50523	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76572	0.4006	M	0.93978	3.48	0.46542	D	0.999097	B;B;B;B	0.32918	0.39;0.39;0.39;0.39	B;B;P;P	0.45343	0.32;0.32;0.477;0.477	T	0.80183	-0.1488	9	0.87932	D	0	.	15.6097	0.76707	0.0:0.0:0.7481:0.2519	.	19559;19684;19751;26983	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	26056;19559;19751;19684;19556	ENSP00000343764:R26056S;ENSP00000434586:R19559S;ENSP00000340554:R19751S;ENSP00000352154:R19684S	ENSP00000340554:R19751S	R	-	1	0	TTN	179133235	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	4.365000	0.59486	0.858000	0.35431	0.655000	0.94253	CGT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	43	0.00	0	G	NM_133378		179424989	179424989	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	21	12.50	3	SNP	1.000	T
VMP1	81671	genome.wustl.edu	37	17	57915485	57915485	+	Intron	DEL	C	C	-			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr17:57915485delC	ENST00000262291.4	+	11	1284				VMP1_ENST00000545362.1_Intron|VMP1_ENST00000539763.1_Intron|VMP1_ENST00000537567.1_Intron|VMP1_ENST00000536180.1_Intron|VMP1_ENST00000588617.1_3'UTR	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1						autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						ttttttttAACTAAAAAGGGG	0.348																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.975-171C>-	17.37:g.57915485delC			B4DVV9|Q9H0P4|Q9P089	RNA	DEL	-	NULL	ENST00000262291.4	37	NULL	CCDS11619.1	17																																																																																			VMP1	-	-	ENSG00000062716		0.348	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	16	0.00	0	C	NM_030938		57915485	57915485	+1	no_errors	ENST00000588617	ensembl	human	known	69_37n	rna	3	22.22	2	DEL	0.001	-
WLS	79971	genome.wustl.edu	37	1	68603629	68603629	+	Intron	SNP	G	G	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr1:68603629G>T	ENST00000262348.4	-	11	1616				GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Intron|WLS_ENST00000540432.1_Intron|WLS_ENST00000354777.2_Intron|GNG12-AS1_ENST00000434072.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator						anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GCGGAGAAAGGATGGTGATAT	0.438																																						dbGAP											0													62.0	59.0	60.0					1																	68603629		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1363-13C>A	1.37:g.68603629G>T			B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	RNA	SNP	-	NULL	ENST00000262348.4	37	NULL	CCDS642.1	1																																																																																			WLS	-	-	ENSG00000116729		0.438	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	27	0.00	0	G	NM_024911		68603629	68603629	-1	no_errors	ENST00000498615	ensembl	human	known	69_37n	rna	27	12.90	4	SNP	0.003	T
XPO4	64328	genome.wustl.edu	37	13	21417130	21417130	+	Silent	SNP	T	T	G			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr13:21417130T>G	ENST00000255305.6	-	6	702	c.631A>C	c.(631-633)Agg>Cgg	p.R211R	XPO4_ENST00000400602.2_Silent_p.R211R			Q9C0E2	XPO4_HUMAN	exportin 4	211					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTTTCCCGCCTGCTGAACTCC	0.373																																						dbGAP											0													55.0	56.0	56.0					13																	21417130		1940	4146	6086	-	-	-	SO:0001819	synonymous_variant	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.631A>C	13.37:g.21417130T>G			Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	superfamily_ARM-type_fold	p.R211	ENST00000255305.6	37	c.631	CCDS41872.1	13																																																																																			XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.373	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	54	0.00	0	T	NM_022459		21417130	21417130	-1	no_errors	ENST00000255305	ensembl	human	known	69_37n	silent	25	24.24	8	SNP	0.997	G
ZC4H2	55906	genome.wustl.edu	37	X	64137066	64137066	+	3'UTR	SNP	G	G	A			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chrX:64137066G>A	ENST00000374839.3	-	0	1378				ZC4H2_ENST00000447788.2_3'UTR|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_3'UTR|ZC4H2_ENST00000545618.1_3'UTR	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing						nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTATATGTGGGAGACAGAAGT	0.408																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.*597C>T	X.37:g.64137066G>A			B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	RNA	SNP	-	NULL	ENST00000374839.3	37	NULL	CCDS14380.1	X																																																																																			ZC4H2	-	-	ENSG00000126970		0.408	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC4H2	HGNC	protein_coding	OTTHUMT00000056958.1	8	0.00	0	G	NM_018684		64137066	64137066	-1	no_errors	ENST00000488608	ensembl	human	known	69_37n	rna	4	50.00	4	SNP	0.000	A
ZFYVE28	57732	genome.wustl.edu	37	4	2307064	2307064	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr4:2307064T>C	ENST00000290974.2	-	8	1342	c.1003A>G	c.(1003-1005)Atg>Gtg	p.M335V	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.M265V|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.M305V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	335				M -> I (in Ref. 2; BAH11855). {ECO:0000305}.	negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TCGTACTGCATGGAGCAGGCC	0.667																																						dbGAP											0													48.0	49.0	49.0					4																	2307064		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1003A>G	4.37:g.2307064T>C	ENSP00000290974:p.Met335Val		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.M335V	ENST00000290974.2	37	c.1003	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926802	0.73327	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.65549	-0.06;-0.16;-0.08	5.62	4.44	0.53790	.	0.039704	0.85682	N	0.000000	T	0.50514	0.1620	L	0.41236	1.265	0.80722	D	1	B;B	0.17268	0.021;0.016	B;B	0.15484	0.013;0.008	T	0.40813	-0.9543	10	0.30854	T	0.27	.	10.1929	0.43037	0.0:0.0802:0.0:0.9197	.	305;335	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	V	335;305;265	ENSP00000290974:M335V;ENSP00000425706:M305V;ENSP00000426299:M265V	ENSP00000290974:M335V	M	-	1	0	ZFYVE28	2276862	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.316000	0.59178	0.973000	0.38340	0.477000	0.44152	ATG	ZFYVE28	-	NULL	ENSG00000159733		0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	29	0.00	0	T	XM_035371		2307064	2307064	-1	no_errors	ENST00000290974	ensembl	human	known	69_37n	missense	9	47.06	8	SNP	1.000	C
ZNF311	282890	genome.wustl.edu	37	6	28966539	28966539	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr6:28966539G>T	ENST00000377179.3	-	6	899	c.387C>A	c.(385-387)gaC>gaA	p.D129E	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	129	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GGGACTCCCTGTCCTGTGGAT	0.463																																						dbGAP											0													116.0	113.0	114.0					6																	28966539		1510	2709	4219	-	-	-	SO:0001583	missense	0			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.387C>A	6.37:g.28966539G>T	ENSP00000366384:p.Asp129Glu		A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D129E	ENST00000377179.3	37	c.387	CCDS34357.1	6	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.846021	0.00568	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.04406	3.63	3.73	-4.35	0.03656	Krueppel-associated box (1);	.	.	.	.	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.47724	-0.9095	9	0.14252	T	0.57	-0.3187	3.9408	0.09326	0.4286:0.0:0.3105:0.2608	.	129	Q5JNZ3	ZN311_HUMAN	E	129;37	ENSP00000366384:D129E	ENSP00000366384:D129E	D	-	3	2	ZNF311	29074518	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	-0.543000	0.06084	-0.806000	0.04398	-0.218000	0.12543	GAC	ZNF311	-	pfscan_Krueppel-associated_box	ENSG00000197935		0.463	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF311	HGNC	protein_coding	OTTHUMT00000076631.3	31	0.00	0	G	XM_212581		28966539	28966539	-1	no_errors	ENST00000377179	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.001	T
ZNF790	388536	genome.wustl.edu	37	19	37310012	37310012	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A425-01A-11D-A243-09	TCGA-A7-A425-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c67181dd-3934-4e63-b0b0-ddb61a5d1306	1a65e4d5-1db5-44b8-8c9c-c014a6e22760	g.chr19:37310012G>A	ENST00000356725.4	-	5	1354	c.1234C>T	c.(1234-1236)Cat>Tat	p.H412Y	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTCGCTGATGTCGAGCAAGG	0.398																																						dbGAP											0													85.0	85.0	85.0					19																	37310012		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1234C>T	19.37:g.37310012G>A	ENSP00000349161:p.His412Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H412Y	ENST00000356725.4	37	c.1234	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478649	0.44044	.	.	ENSG00000197863	ENST00000356725	D	0.86769	-2.17	3.02	0.729	0.18266	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90431	0.7004	H	0.96861	3.895	0.22412	N	0.999124	P	0.44816	0.844	B	0.42495	0.389	D	0.83569	0.0111	9	0.87932	D	0	.	6.2822	0.21013	0.1066:0.0:0.7122:0.1811	.	412	Q6PG37	ZN790_HUMAN	Y	412	ENSP00000349161:H412Y	ENSP00000349161:H412Y	H	-	1	0	ZNF790	42001852	1.000000	0.71417	0.012000	0.15200	0.612000	0.37316	3.281000	0.51685	0.125000	0.18397	0.491000	0.48974	CAT	ZNF790	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197863		0.398	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	54	0.00	0	G	NM_206894		37310012	37310012	-1	no_errors	ENST00000356725	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.748	A
