#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
ANK1	286	genome.wustl.edu	37	8	41525809	41525809	+	Silent	SNP	C	C	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr8:41525809C>T	ENST00000347528.4	-	39	5453	c.5370G>A	c.(5368-5370)aaG>aaA	p.K1790K	ANK1_ENST00000396945.1_Silent_p.K1790K|ANK1_ENST00000396942.1_Silent_p.K1790K|ANK1_ENST00000265709.8_Silent_p.K1831K|ANK1_ENST00000379758.2_Silent_p.K1790K|ANK1_ENST00000289734.7_Silent_p.K1790K|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Silent_p.K1790K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1790	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGAAGGTGTTCTTGGCCTCCT	0.642																																						dbGAP											0													123.0	98.0	106.0					8																	41525809		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5370G>A	8.37:g.41525809C>T			A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_ZU5,pfam_Ankyrin_rpt,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E950K	ENST00000347528.4	37	c.2848	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278165	0.05679	.	.	ENSG00000029534	ENST00000520299	.	.	.	4.17	1.26	0.21427	.	.	.	.	.	T	0.34279	0.0892	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25882	-1.0119	4	.	.	.	.	8.2679	0.31827	0.0:0.3666:0.5366:0.0968	.	.	.	.	K	950	.	.	E	-	1	0	ANK1	41644966	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.267000	0.08619	0.149000	0.19098	0.313000	0.20887	GAA	ANK1	-	NULL	ENSG00000029534		0.642	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	190	0.00	0	C	NM_020475		41525809	41525809	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000520299	ensembl	human	putative	69_37n	missense	132	31.61	61	SNP	0.000	T
ATAD3B	83858	genome.wustl.edu	37	1	1430987	1430987	+	Silent	SNP	C	C	T	rs577199359		TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr1:1430987C>T	ENST00000308647.7	+	16	1853	c.1737C>T	c.(1735-1737)cgC>cgT	p.R579R		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	579						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCTGGGCGCGGGGTCGAGC	0.667													N|||	1	0.000199681	0.0008	0.0	5008	,	,		16766	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													45.0	47.0	46.0					1																	1430987		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1737C>T	1.37:g.1430987C>T			A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R579	ENST00000308647.7	37	c.1737	CCDS30.1	1																																																																																			ATAD3B	-	NULL	ENSG00000160072		0.667	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	22	0.00	0	C	NM_031921		1430987	1430987	+1	no_errors	ENST00000308647	ensembl	human	known	69_37n	silent	3	62.50	5	SNP	0.000	T
BHMT2	23743	genome.wustl.edu	37	5	78379147	78379147	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr5:78379147C>T	ENST00000255192.3	+	6	797	c.731C>T	c.(730-732)gCg>gTg	p.A244V	BHMT2_ENST00000521567.1_Missense_Mutation_p.A180V|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	244	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGGTTCCACGCGCCTGACTGT	0.552																																						dbGAP											0													71.0	71.0	71.0					5																	78379147		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.731C>T	5.37:g.78379147C>T	ENSP00000255192:p.Ala244Val		B7Z516|Q9NXX7	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.A244V	ENST00000255192.3	37	c.731	CCDS4045.1	5	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255813	0.39896	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.11169	2.8;2.8	5.53	3.65	0.41850	Homocysteine S-methyltransferase (4);	0.048409	0.85682	D	0.000000	T	0.04497	0.0123	N	0.02011	-0.69	0.21386	N	0.999703	B;B	0.12630	0.003;0.006	B;B	0.17098	0.003;0.017	T	0.37619	-0.9698	10	0.36615	T	0.2	-5.0359	11.304	0.49323	0.0:0.8481:0.0:0.1519	.	180;244	B7Z516;Q9H2M3	.;BHMT2_HUMAN	V	244;180	ENSP00000255192:A244V;ENSP00000430278:A180V	ENSP00000255192:A244V	A	+	2	0	BHMT2	78414903	0.998000	0.40836	0.444000	0.26895	0.370000	0.29829	3.784000	0.55416	0.625000	0.30304	0.655000	0.94253	GCG	BHMT2	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	ENSG00000132840		0.552	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT2	HGNC	protein_coding	OTTHUMT00000226962.2	112	0.00	0	C	NM_017614		78379147	78379147	+1	no_errors	ENST00000255192	ensembl	human	known	69_37n	missense	154	12.00	21	SNP	0.998	T
CDH24	64403	genome.wustl.edu	37	14	23523784	23523785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr14:23523784_23523785insC	ENST00000267383.5	-	4	806_807	c.714_715insG	c.(712-717)gggctgfs	p.L239fs	CDH24_ENST00000554034.1_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000397359.3_Frame_Shift_Ins_p.L239fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTGCCTGACAGCCCCCCCATGT	0.609											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.715dupG	14.37:g.23523791_23523791dupC	ENSP00000267383:p.Leu239fs	764	D3DS44|Q86UP1|Q9NT84	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L238fs	ENST00000267383.5	37	c.715_714	CCDS9585.1	14																																																																																			CDH24	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000139880		0.609	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	25	0.00	0	-	NM_022478		23523784	23523785	-1	no_errors	ENST00000267383	ensembl	human	known	69_37n	frame_shift_ins	7	36.36	4	INS	1.000:1.000	C
CEP95	90799	genome.wustl.edu	37	17	62533802	62533802	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr17:62533802G>A	ENST00000556440.2	+	20	2881	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	CEP95_ENST00000553412.1_Missense_Mutation_p.D627N	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	791						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AACACAGAATGATGATGATGT	0.458																																						dbGAP											0													71.0	71.0	71.0					17																	62533802		1964	4154	6118	-	-	-	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2371G>A	17.37:g.62533802G>A	ENSP00000450461:p.Asp791Asn		B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.D791N	ENST00000556440.2	37	c.2371	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.606155	0.96626	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.39787	1.06;1.09	5.91	5.91	0.95273	.	0.206620	0.48767	D	0.000161	T	0.60379	0.2264	L	0.57536	1.79	0.58432	D	0.999995	D	0.59357	0.985	P	0.58873	0.847	T	0.59830	-0.7380	10	0.72032	D	0.01	-7.5268	20.2946	0.98546	0.0:0.0:1.0:0.0	.	791	Q96GE4	CEP95_HUMAN	N	726;791;627	ENSP00000450461:D791N;ENSP00000450906:D627N	ENSP00000438458:D726N	D	+	1	0	CEP95	59964264	1.000000	0.71417	0.437000	0.26809	0.974000	0.67602	7.473000	0.81007	2.804000	0.96469	0.462000	0.41574	GAT	CEP95	-	NULL	ENSG00000258890		0.458	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	113	0.00	0	G	NM_138363		62533802	62533802	+1	no_errors	ENST00000556440	ensembl	human	known	69_37n	missense	106	10.83	13	SNP	1.000	A
CERCAM	51148	genome.wustl.edu	37	9	131186755	131186755	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr9:131186755G>T	ENST00000372838.4	+	5	1026	c.628G>T	c.(628-630)Gtc>Ttc	p.V210F	CERCAM_ENST00000372842.1_Missense_Mutation_p.V132F	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	210					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTGCTTCCGTGTCCCCATGGT	0.622																																						dbGAP											0													87.0	83.0	85.0					9																	131186755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.628G>T	9.37:g.131186755G>T	ENSP00000361929:p.Val210Phe		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.V210F	ENST00000372838.4	37	c.628	CCDS6901.2	9	.	.	.	.	.	.	.	.	.	.	G	36	5.694002	0.96793	.	.	ENSG00000167123	ENST00000372842;ENST00000420512;ENST00000372838;ENST00000413863	T;T;T	0.30981	1.51;1.51;1.51	4.9	4.9	0.64082	.	0.138755	0.47852	D	0.000208	T	0.62563	0.2438	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.70806	-0.4772	10	0.87932	D	0	-16.4415	16.8166	0.85735	0.0:0.0:1.0:0.0	.	210	Q5T4B2	GT253_HUMAN	F	132;132;210;163	ENSP00000361933:V132F;ENSP00000416676:V132F;ENSP00000361929:V210F	ENSP00000361929:V210F	V	+	1	0	CERCAM	130226576	1.000000	0.71417	0.975000	0.42487	0.912000	0.54170	9.590000	0.98238	2.543000	0.85770	0.467000	0.42956	GTC	CERCAM	-	NULL	ENSG00000167123		0.622	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	34	0.00	0	G	NM_016174		131186755	131186755	+1	no_errors	ENST00000372838	ensembl	human	known	69_37n	missense	2	81.82	9	SNP	1.000	T
CLDN8	9073	genome.wustl.edu	37	21	31587665	31587665	+	Silent	SNP	A	A	G			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr21:31587665A>G	ENST00000399899.1	-	1	726	c.579T>C	c.(577-579)agT>agC	p.S193S	CLDN8_ENST00000286809.1_Silent_p.S193S	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	193					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						ATCTGTAGCTACTGCTCTTTT	0.478																																						dbGAP											0													123.0	114.0	117.0					21																	31587665		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.579T>C	21.37:g.31587665A>G			D3DSE3|Q53EX7	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14	p.S193	ENST00000399899.1	37	c.579	CCDS13587.1	21																																																																																			CLDN8	-	prints_Claudin8	ENSG00000156284		0.478	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN8	HGNC	protein_coding	OTTHUMT00000182260.1	155	0.00	0	A	NM_199328		31587665	31587665	-1	no_errors	ENST00000286809	ensembl	human	known	69_37n	silent	125	24.70	41	SNP	0.000	G
CRISPLD1	83690	genome.wustl.edu	37	8	75927084	75927084	+	Missense_Mutation	SNP	C	C	T	rs566911502		TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr8:75927084C>T	ENST00000262207.4	+	6	1132	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.R36W|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.R34W	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	222					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.R222W(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAACATGGGCGGCCCTGTTC	0.423																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											52.0	48.0	50.0					8																	75927084		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.664C>T	8.37:g.75927084C>T	ENSP00000262207:p.Arg222Trp		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.R222W	ENST00000262207.4	37	c.664	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702661	0.68501	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;T;D	0.83250	0.2;-1.34;-1.7	4.6	3.69	0.42338	.	0.171361	0.46442	D	0.000284	T	0.79747	0.4499	L	0.49126	1.545	0.38547	D	0.949369	D;P	0.56968	0.978;0.903	B;B	0.43623	0.425;0.2	T	0.83052	-0.0152	10	0.72032	D	0.01	.	13.595	0.61984	0.1616:0.8384:0.0:0.0	.	36;222	B7Z929;Q9H336	.;CRLD1_HUMAN	W	222;34;36	ENSP00000262207:R222W;ENSP00000430105:R34W;ENSP00000429746:R36W	ENSP00000262207:R222W	R	+	1	2	CRISPLD1	76089639	0.107000	0.21998	0.873000	0.34254	0.895000	0.52256	1.508000	0.35769	1.085000	0.41206	0.460000	0.39030	CGG	CRISPLD1	-	NULL	ENSG00000121005		0.423	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	31	0.00	0	C	NM_031461		75927084	75927084	+1	no_errors	ENST00000262207	ensembl	human	known	69_37n	missense	17	59.52	25	SNP	0.873	T
CYR61	3491	genome.wustl.edu	37	1	86047823	86047823	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr1:86047823G>A	ENST00000451137.2	+	3	714	c.490G>A	c.(490-492)Gac>Aac	p.D164N		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	164	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		GTGGGTCTGTGACGAGGATAG	0.572											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													95.0	90.0	92.0					1																	86047823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.490G>A	1.37:g.86047823G>A	ENSP00000398736:p.Asp164Asn	1241	O14934|O43775|Q9BZL7	Missense_Mutation	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.D164N	ENST00000451137.2	37	c.490	CCDS706.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.197195	0.94960	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	T	0.81078	-1.45	6.08	6.08	0.98989	von Willebrand factor, type C (1);	0.040415	0.85682	D	0.000000	T	0.76814	0.4040	M	0.65498	2.005	0.80722	D	1	P	0.36392	0.551	B	0.35931	0.214	T	0.79296	-0.1862	10	0.72032	D	0.01	-26.6232	20.6634	0.99662	0.0:0.0:1.0:0.0	.	164	O00622	CYR61_HUMAN	N	164;140;164	ENSP00000398736:D164N	ENSP00000353612:D164N	D	+	1	0	CYR61	85820411	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	6.726000	0.74758	2.894000	0.99253	0.655000	0.94253	GAC	CYR61	-	pirsf_IGFBP_CNN,pfscan_VWF_C	ENSG00000142871		0.572	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYR61	HGNC	protein_coding	OTTHUMT00000029187.1	121	0.00	0	G	NM_001554		86047823	86047823	+1	no_errors	ENST00000451137	ensembl	human	known	69_37n	missense	15	53.12	17	SNP	1.000	A
DCHS2	54798	genome.wustl.edu	37	4	155253827	155253827	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr4:155253827A>T	ENST00000357232.4	-	9	2035	c.2036T>A	c.(2035-2037)aTt>aAt	p.I679N	DCHS2_ENST00000339452.1_Missense_Mutation_p.I1178N|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	679	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GACACGAACAATGACTGTAGT	0.458																																						dbGAP											0													127.0	131.0	130.0					4																	155253827		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2036T>A	4.37:g.155253827A>T	ENSP00000349768:p.Ile679Asn		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I679N	ENST00000357232.4	37	c.2036	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	A	3.486	-0.104909	0.06967	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.61040	0.14;0.14	4.89	-5.23	0.02798	Cadherin (3);Cadherin-like (1);	0.557938	0.16175	N	0.226083	T	0.40862	0.1134	L	0.39898	1.24	0.09310	N	0.999999	P;P	0.42735	0.681;0.788	B;B	0.39185	0.238;0.293	T	0.41945	-0.9480	10	0.14656	T	0.56	.	14.3734	0.66857	0.5869:0.0:0.4131:0.0	.	1178;679	E9PC11;Q6V1P9	.;PCD23_HUMAN	N	679;1178;1178	ENSP00000349768:I679N;ENSP00000345062:I1178N	ENSP00000345062:I1178N	I	-	2	0	DCHS2	155473277	0.000000	0.05858	0.014000	0.15608	0.185000	0.23345	-0.041000	0.12084	-1.405000	0.02048	-1.963000	0.00474	ATT	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.458	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	176	0.00	0	A	NM_001142552		155253827	155253827	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	170	22.73	50	SNP	0.003	T
DENND5A	23258	genome.wustl.edu	37	11	9167307	9167307	+	Silent	SNP	G	G	A			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr11:9167307G>A	ENST00000328194.3	-	17	3233	c.2913C>T	c.(2911-2913)ttC>ttT	p.F971F	DENND5A_ENST00000530044.1_Silent_p.F971F|DENND5A_ENST00000527700.1_Silent_p.F314F	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	971	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F971F(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTTGGCAGTGAACATGGAGC	0.468																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											296.0	286.0	290.0					11																	9167307		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2913C>T	11.37:g.9167307G>A			B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	pfam_Run	p.S50L	ENST00000328194.3	37	c.149	CCDS31423.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.897804|1.897804	0.33535|0.33535	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000524446|ENST00000525784	.|.	.|.	.|.	5.85|5.85	3.57|3.57	0.40892|0.40892	.|.	.|.	.|.	.|.	.|.	T|T	0.61337|0.61337	0.2339|0.2339	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56896|0.56896	-0.7903|-0.7903	4|4	.|.	.|.	.|.	.|.	10.6151|10.6151	0.45445|0.45445	0.248:0.0:0.752:0.0|0.248:0.0:0.752:0.0	.|.	.|.	.|.	.|.	Y|L	142|19	.|.	.|.	H|S	-|-	1|2	0|0	DENND5A|DENND5A	9123883|9123883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.829000|3.829000	0.55760|0.55760	0.686000|0.686000	0.31488|0.31488	0.650000|0.650000	0.86243|0.86243	CAC|TCA	DENND5A	-	NULL	ENSG00000184014		0.468	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	335	0.30	1	G	NM_015213		9167307	9167307	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000531747	ensembl	human	known	69_37n	missense	238	35.15	129	SNP	1.000	A
FAM124B	79843	genome.wustl.edu	37	2	225266148	225266148	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr2:225266148T>C	ENST00000409685.3	-	1	603	c.338A>G	c.(337-339)aAt>aGt	p.N113S	FAM124B_ENST00000389874.3_Missense_Mutation_p.N113S|FAM124B_ENST00000243806.2_Missense_Mutation_p.N113S	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	113										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GAACTCCTGATTGGCAAAAAA	0.577																																						dbGAP											0													57.0	54.0	55.0					2																	225266148		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.338A>G	2.37:g.225266148T>C	ENSP00000386895:p.Asn113Ser		A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	NULL	p.N113S	ENST00000409685.3	37	c.338	CCDS46527.1	2	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.443652	0.01089	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.39787	1.06;1.06;1.06	5.79	-0.525	0.11917	.	0.652897	0.17295	N	0.179485	T	0.22205	0.0535	L	0.32530	0.975	0.09310	N	1	B;B	0.16802	0.019;0.003	B;B	0.17722	0.019;0.002	T	0.32188	-0.9916	10	0.02654	T	1	-4.0716	6.3388	0.21310	0.0:0.3225:0.2237:0.4538	.	113;113	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	S	113	ENSP00000374524:N113S;ENSP00000386895:N113S;ENSP00000243806:N113S	ENSP00000243806:N113S	N	-	2	0	FAM124B	224974392	0.002000	0.14202	0.000000	0.03702	0.038000	0.13279	0.189000	0.17037	-0.086000	0.12550	0.533000	0.62120	AAT	FAM124B	-	NULL	ENSG00000124019		0.577	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM124B	HGNC	protein_coding	OTTHUMT00000330873.1	78	0.00	0	T	NM_024785		225266148	225266148	-1	no_errors	ENST00000409685	ensembl	human	known	69_37n	missense	62	20.51	16	SNP	0.001	C
FLNB	2317	genome.wustl.edu	37	3	58140575	58140576	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr3:58140575_58140576insG	ENST00000295956.4	+	40	6857_6858	c.6692_6693insG	c.(6691-6696)gagggcfs	p.EG2231fs	FLNB_ENST00000419752.2_Frame_Shift_Ins_p.EG2051fs|FLNB_ENST00000358537.3_Frame_Shift_Ins_p.EG2207fs|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Frame_Shift_Ins_p.EG2190fs|FLNB_ENST00000490882.1_Frame_Shift_Ins_p.EG2262fs|FLNB_ENST00000429972.2_Frame_Shift_Ins_p.EG2220fs|FLNB_ENST00000493452.1_Frame_Shift_Ins_p.EG2038fs	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2231	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATCGCTGTTGAGGGCCCCAGTA	0.52																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6695dupG	3.37:g.58140578_58140578dupG	ENSP00000295956:p.Glu2231fs		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Frame_Shift_Ins	INS	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S2234fs	ENST00000295956.4	37	c.6692_6693	CCDS2885.1	3																																																																																			FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.520	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	38	0.00	0	-	NM_001457		58140575	58140576	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	frame_shift_ins	26	35.00	14	INS	1.000:1.000	G
GSPT2	23708	genome.wustl.edu	37	X	51488498	51488498	+	Silent	SNP	C	C	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chrX:51488498C>T	ENST00000340438.4	+	1	2018	c.1776C>T	c.(1774-1776)atC>atT	p.I592I		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	592					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CAGGAACCATCTGCCTCGAGA	0.428																																						dbGAP											0													97.0	85.0	89.0					X																	51488498		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1776C>T	X.37:g.51488498C>T			Q9H909|Q9NVY0|Q9NY44	Silent	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd	p.I592	ENST00000340438.4	37	c.1776	CCDS14336.1	X																																																																																			GSPT2	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C	ENSG00000189369		0.428	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	HGNC	protein_coding	OTTHUMT00000056587.1	212	0.00	0	C			51488498	51488498	+1	no_errors	ENST00000340438	ensembl	human	known	69_37n	silent	111	22.38	32	SNP	1.000	T
IGSF3	3321	genome.wustl.edu	37	1	117146250	117146250	+	Silent	SNP	A	A	G			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr1:117146250A>G	ENST00000369486.3	-	6	2385	c.1620T>C	c.(1618-1620)gcT>gcC	p.A540A	IGSF3_ENST00000318837.6_Silent_p.A560A|IGSF3_ENST00000369483.1_Silent_p.A560A	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	540					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACTCACCAAGAGCTGTGATGG	0.562																																						dbGAP											0													47.0	49.0	48.0					1																	117146250		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1620T>C	1.37:g.117146250A>G			A6NJZ6|A6NMC7	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A560	ENST00000369486.3	37	c.1680	CCDS30813.1	1																																																																																			IGSF3	-	NULL	ENSG00000143061		0.562	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	146	0.00	0	A	NM_001542		117146250	117146250	-1	no_errors	ENST00000318837	ensembl	human	known	69_37n	silent	78	25.71	27	SNP	0.921	G
ITPKA	3706	genome.wustl.edu	37	15	41794697	41794697	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr15:41794697T>C	ENST00000260386.5	+	5	1159	c.1106T>C	c.(1105-1107)gTg>gCg	p.V369A		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	369					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GATGAGGAAGTGCTGGTGAGA	0.607																																						dbGAP											0													72.0	69.0	70.0					15																	41794697		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"""inositol 1,4,5-trisphosphate 3-kinase A"""			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.1106T>C	15.37:g.41794697T>C	ENSP00000260386:p.Val369Ala		Q8TAN3	Missense_Mutation	SNP	pfam_IPK	p.V369A	ENST00000260386.5	37	c.1106	CCDS10076.1	15	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571805	0.86542	.	.	ENSG00000137825	ENST00000260386	T	0.14640	2.49	4.8	4.8	0.61643	.	0.123354	0.51477	D	0.000099	T	0.20618	0.0496	L	0.37630	1.12	0.41015	D	0.98503	D	0.53462	0.96	P	0.56563	0.801	T	0.01276	-1.1398	9	.	.	.	-0.1235	12.219	0.54423	0.0:0.0:0.0:1.0	.	369	P23677	IP3KA_HUMAN	A	369	ENSP00000260386:V369A	.	V	+	2	0	ITPKA	39581989	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.970000	0.76099	2.020000	0.59435	0.533000	0.62120	GTG	ITPKA	-	pfam_IPK	ENSG00000137825		0.607	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKA	HGNC	protein_coding	OTTHUMT00000252695.3	11	0.00	0	T	NM_002220		41794697	41794697	+1	no_errors	ENST00000260386	ensembl	human	known	69_37n	missense	5	88.10	37	SNP	1.000	C
KLHL8	57563	genome.wustl.edu	37	4	88104522	88104522	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr4:88104522G>A	ENST00000273963.5	-	4	1126	c.785C>T	c.(784-786)cCg>cTg	p.P262L	KLHL8_ENST00000425278.2_Missense_Mutation_p.P79L|KLHL8_ENST00000498875.2_Missense_Mutation_p.P186L|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.P262L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	262	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AAAATCAACCGGCAACAATGG	0.323																																						dbGAP											0													106.0	100.0	102.0					4																	88104522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.785C>T	4.37:g.88104522G>A	ENSP00000273963:p.Pro262Leu		Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P262L	ENST00000273963.5	37	c.785	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714115	0.89112	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000512111	T;T;T;T	0.79653	-0.43;-0.43;-1.29;-0.43	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.86887	0.6041	M	0.85099	2.735	0.80722	D	1	D;P;D	0.69078	0.997;0.922;0.962	P;B;P	0.48770	0.557;0.313;0.589	D	0.88980	0.3407	10	0.62326	D	0.03	.	19.4137	0.94687	0.0:0.0:1.0:0.0	.	79;186;262	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	L	262;186;79;262	ENSP00000273963:P262L;ENSP00000426451:P186L;ENSP00000408854:P79L;ENSP00000424131:P262L	ENSP00000273963:P262L	P	-	2	0	KLHL8	88323546	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.410000	0.97335	2.579000	0.87056	0.591000	0.81541	CCG	KLHL8	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000145332		0.323	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	125	0.00	0	G			88104522	88104522	-1	no_errors	ENST00000273963	ensembl	human	known	69_37n	missense	133	28.88	54	SNP	1.000	A
LAMA2	3908	genome.wustl.edu	37	6	129712680	129712680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr6:129712680C>T	ENST00000421865.2	+	36	5165	c.5116C>T	c.(5116-5118)Cga>Tga	p.R1706*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1706	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTAGGAACTCGAGACGAGGC	0.358																																						dbGAP											0			GRCh37	CM981165	LAMA2	M							93.0	106.0	102.0					6																	129712680		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5116C>T	6.37:g.129712680C>T	ENSP00000400365:p.Arg1706*		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R1706*	ENST00000421865.2	37	c.5116	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	44	10.858880	0.99479	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	6.06	5.19	0.71726	.	0.314435	0.35040	N	0.003494	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	16.7883	0.85580	0.13:0.87:0.0:0.0	.	.	.	.	X	1706	.	ENSP00000346769:R1706X	R	+	1	2	LAMA2	129754373	0.997000	0.39634	0.972000	0.41901	0.318000	0.28184	3.128000	0.50492	1.558000	0.49541	0.650000	0.86243	CGA	LAMA2	-	pfam_Laminin_I	ENSG00000196569		0.358	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	362	0.00	0	C			129712680	129712680	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	nonsense	124	54.07	146	SNP	0.991	T
LONP2	83752	genome.wustl.edu	37	16	48303987	48303987	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr16:48303987A>T	ENST00000285737.4	+	7	1136	c.1043A>T	c.(1042-1044)aAa>aTa	p.K348I	LONP2_ENST00000535754.1_Missense_Mutation_p.K304I	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCCATGGAAAAATTGAAGAAA	0.428																																						dbGAP											0													68.0	67.0	67.0					16																	48303987		2200	4300	6500	-	-	-	SO:0001583	missense	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1043A>T	16.37:g.48303987A>T	ENSP00000285737:p.Lys348Ile			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.K348I	ENST00000285737.4	37	c.1043	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159046	0.78226	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T;T	0.41758	0.99;0.99;0.99	5.64	5.64	0.86602	.	0.141219	0.64402	D	0.000005	T	0.65322	0.2680	H	0.94886	3.595	0.48511	D	0.999663	P;P	0.46784	0.857;0.884	P;P	0.48552	0.499;0.581	T	0.76822	-0.2817	10	0.87932	D	0	-25.8584	15.8713	0.79122	1.0:0.0:0.0:0.0	.	304;348	B7ZKL7;Q86WA8	.;LONP2_HUMAN	I	348;77;304;304	ENSP00000285737:K348I;ENSP00000445426:K304I;ENSP00000415983:K304I	ENSP00000285737:K348I	K	+	2	0	LONP2	46861488	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	6.304000	0.72800	2.144000	0.66660	0.533000	0.62120	AAA	LONP2	-	tigrfam_Pept_S16_lon	ENSG00000102910		0.428	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	174	0.00	0	A	NM_031490		48303987	48303987	+1	no_errors	ENST00000285737	ensembl	human	known	69_37n	missense	65	57.24	87	SNP	1.000	T
MAGEE1	57692	genome.wustl.edu	37	X	75648789	75648789	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chrX:75648789delG	ENST00000361470.2	+	1	744	c.466delG	c.(466-468)gccfs	p.A156fs		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	156	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCCGCCCACCGCCTCTGAGGT	0.687																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.466delG	X.37:g.75648789delG	ENSP00000354912:p.Ala156fs		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Frame_Shift_Del	DEL	pfam_MAGE,pfscan_MAGE	p.A156fs	ENST00000361470.2	37	c.466	CCDS14433.1	X																																																																																			MAGEE1	-	NULL	ENSG00000198934		0.687	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	17	0.00	0	G	NM_020932		75648789	75648789	+1	no_errors	ENST00000361470	ensembl	human	known	69_37n	frame_shift_del	6	40.00	6	DEL	0.000	-
MAGEE1	57692	genome.wustl.edu	37	X	75648792	75648793	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chrX:75648792_75648793insG	ENST00000361470.2	+	1	747_748	c.469_470insG	c.(469-471)tctfs	p.S157fs		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	157	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCCCACCGCCTCTGAGGTACCG	0.688																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	Exception_encountered	X.37:g.75648792_75648793insG	ENSP00000354912:p.Ser157fs		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Frame_Shift_Ins	INS	pfam_MAGE,pfscan_MAGE	p.S157fs	ENST00000361470.2	37	c.469_470	CCDS14433.1	X																																																																																			MAGEE1	-	NULL	ENSG00000198934		0.688	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	17	0.00	0	-	NM_020932		75648792	75648793	+1	no_errors	ENST00000361470	ensembl	human	known	69_37n	frame_shift_ins	10	28.57	4	INS	0.000:0.000	G
MAML2	84441	genome.wustl.edu	37	11	95825407	95825407	+	Silent	SNP	C	C	T	rs61901862		TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr11:95825407C>T	ENST00000524717.1	-	2	3072	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	596					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q596Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgtt	0.532			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	dbGAP		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	kidney(1)											28.0	35.0	33.0					11																	95825407		2119	4148	6267	-	-	-	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1788G>A	11.37:g.95825407C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q596	ENST00000524717.1	37	c.1788	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	10	0.00	0	C			95825407	95825407	-1	no_errors	ENST00000440572	ensembl	human	known	69_37n	silent	15	34.78	8	SNP	0.003	T
MAP3K1	4214	genome.wustl.edu	37	5	56160594	56160595	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr5:56160594_56160595insC	ENST00000399503.3	+	4	868_869	c.868_869insC	c.(868-870)gccfs	p.A290fs	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	290					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCCCGAAGAGCCCCTTCACCA	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.872dupC	5.37:g.56160598_56160598dupC	ENSP00000382423:p.Ala290fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.S292fs	ENST00000399503.3	37	c.868_869	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.446	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	151	0.00	0	-	XM_042066		56160594	56160595	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	116	35.20	63	INS	1.000:1.000	C
MED7	9443	genome.wustl.edu	37	5	156566070	156566070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr5:156566070C>A	ENST00000286317.5	-	2	754	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	MED7_ENST00000420343.1_Nonsense_Mutation_p.E125*	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	125					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTCGGTATTCATTTATAAGA	0.418																																						dbGAP											0													81.0	84.0	83.0					5																	156566070		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.373G>T	5.37:g.156566070C>A	ENSP00000286317:p.Glu125*			Nonsense_Mutation	SNP	pfam_Mediatior_Med7	p.E125*	ENST00000286317.5	37	c.373	CCDS4334.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.437645	0.98282	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-15.7435	19.7818	0.96418	0.0:1.0:0.0:0.0	.	.	.	.	X	125	.	ENSP00000286317:E125X	E	-	1	0	MED7	156498648	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.533000	0.81994	2.736000	0.93811	0.655000	0.94253	GAA	MED7	-	pfam_Mediatior_Med7	ENSG00000155868		0.418	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED7	HGNC	protein_coding	OTTHUMT00000252567.2	192	0.00	0	C	NM_004270		156566070	156566070	-1	no_errors	ENST00000286317	ensembl	human	known	69_37n	nonsense	164	30.83	74	SNP	1.000	A
MYOM3	127294	genome.wustl.edu	37	1	24432477	24432477	+	Missense_Mutation	SNP	C	C	T	rs192424154	byFrequency	TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr1:24432477C>T	ENST00000374434.3	-	5	655	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	MYOM3_ENST00000329601.7_Missense_Mutation_p.V165I|MYOM3_ENST00000330966.7_Missense_Mutation_p.V166I|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	165	Ig-like C2-type 1.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.V165I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGCTCCCAGACGGCGTGGGAG	0.677													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17444	0.001		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - Missense(1)	lung(1)											54.0	66.0	62.0					1																	24432477		2078	4204	6282	-	-	-	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.493G>A	1.37:g.24432477C>T	ENSP00000363557:p.Val165Ile		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V166I	ENST00000374434.3	37	c.496	CCDS41281.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.17	3.046856	0.55110	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.70282	-0.47;-0.47;-0.47	5.34	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.67850	0.2937	L	0.49699	1.58	0.30519	N	0.768587	D;P	0.57257	0.979;0.634	P;B	0.47573	0.55;0.143	T	0.69522	-0.5123	10	0.40728	T	0.16	.	11.7175	0.51661	0.0:0.9138:0.0:0.0862	.	165;165	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	I	165;166;165	ENSP00000363557:V165I;ENSP00000332670:V166I;ENSP00000328415:V165I	ENSP00000328415:V165I	V	-	1	0	MYOM3	24305064	0.948000	0.32251	0.996000	0.52242	0.384000	0.30261	1.992000	0.40737	2.518000	0.84900	0.462000	0.41574	GTC	MYOM3	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000142661		0.677	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	18	0.00	0	C	NM_152372		24432477	24432477	-1	no_errors	ENST00000330966	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	0.997	T
OPA1	4976	genome.wustl.edu	37	3	193365903	193365903	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr3:193365903C>T	ENST00000392438.3	+	18	1984	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	OPA1_ENST00000361828.2_Missense_Mutation_p.R602C|OPA1_ENST00000361510.2_Missense_Mutation_p.R639C|OPA1_ENST00000361908.3_Missense_Mutation_p.R621C|OPA1_ENST00000361150.2_Missense_Mutation_p.R585C|OPA1_ENST00000361715.2_Missense_Mutation_p.R603C	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	584					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TAACTATCCTCGCCTGCGGGA	0.358																																						dbGAP											0													86.0	76.0	80.0					3																	193365903		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1750C>T	3.37:g.193365903C>T	ENSP00000376233:p.Arg584Cys		D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.R639C	ENST00000392438.3	37	c.1915	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658688	0.88154	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95622	-3.35;-3.34;-3.32;-3.35;-3.36;-3.76	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0;1.0;1.0	P;P;P;P;P;D;P;D	0.66351	0.899;0.828;0.899;0.899;0.814;0.943;0.869;0.943	D	0.97468	1.0039	10	0.87932	D	0	-8.324	18.8932	0.92413	0.0:1.0:0.0:0.0	.	548;584;566;585;602;621;603;639	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	C	621;584;639;603;602;585	ENSP00000354681:R621C;ENSP00000376233:R584C;ENSP00000355324:R639C;ENSP00000355311:R603C;ENSP00000354429:R602C;ENSP00000354781:R585C	ENSP00000354781:R585C	R	+	1	0	OPA1	194848597	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.718000	0.54919	2.809000	0.96659	0.467000	0.42956	CGC	OPA1	-	NULL	ENSG00000198836		0.358	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	93	0.00	0	C	NM_130837		193365903	193365903	+1	no_errors	ENST00000361510	ensembl	human	known	69_37n	missense	81	24.30	26	SNP	1.000	T
OTUD7B	56957	genome.wustl.edu	37	1	149931697	149931697	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr1:149931697C>T	ENST00000369135.4	-	7	1045	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	OTUD7B_ENST00000479905.1_5'Flank	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	251	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CATTCATCTTCTGTGTATACC	0.488																																						dbGAP											0													181.0	173.0	176.0					1																	149931697		1975	4167	6142	-	-	-	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.751G>A	1.37:g.149931697C>T	ENSP00000358131:p.Glu251Lys		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.E251K	ENST00000369135.4	37	c.751	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.310537	0.95629	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.33654	1.4;1.4	5.47	5.47	0.80525	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62383	-0.6866	9	.	.	.	-7.7998	18.4869	0.90833	0.0:1.0:0.0:0.0	.	251	Q6GQQ9	OTU7B_HUMAN	K	251	ENSP00000358131:E251K;ENSP00000408231:E251K	.	E	-	1	0	OTUD7B	148198321	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.285000	0.78660	2.844000	0.97970	0.650000	0.86243	GAA	OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.488	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	221	0.00	0	C	NM_020205		149931697	149931697	-1	no_errors	ENST00000369135	ensembl	human	known	69_37n	missense	306	37.68	185	SNP	1.000	T
PDK4	5166	genome.wustl.edu	37	7	95216383	95216383	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr7:95216383T>A	ENST00000005178.5	-	10	1231	c.1034A>T	c.(1033-1035)cAa>cTa	p.Q345L		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	345	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CAGATCTCCTTGAAAGTACTT	0.378																																						dbGAP											0													89.0	88.0	88.0					7																	95216383		2203	4300	6503	-	-	-	SO:0001583	missense	0			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.1034A>T	7.37:g.95216383T>A	ENSP00000005178:p.Gln345Leu			Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.Q345L	ENST00000005178.5	37	c.1034	CCDS5643.1	7	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546477	0.65198	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.55413	0.52	5.32	5.32	0.75619	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	L	0.56396	1.775	0.80722	D	1	B	0.21452	0.056	B	0.17433	0.018	T	0.49624	-0.8920	10	0.48119	T	0.1	.	15.7617	0.78087	0.0:0.0:0.0:1.0	.	345	Q16654	PDK4_HUMAN	L	345;309	ENSP00000005178:Q345L	ENSP00000005178:Q345L	Q	-	2	0	PDK4	95054319	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.371000	0.80710	0.533000	0.62120	CAA	PDK4	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	ENSG00000004799		0.378	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK4	HGNC	protein_coding	OTTHUMT00000333298.1	33	0.00	0	T	NM_002612		95216383	95216383	-1	no_errors	ENST00000005178	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	1.000	A
PNLIPRP1	5407	genome.wustl.edu	37	10	118368603	118368603	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr10:118368603C>T	ENST00000528052.1	+	13	1450	c.1379C>T	c.(1378-1380)aCg>aTg	p.T460M	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T460M|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T460M			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	460	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CGGGAAGACACGCTGCTCACC	0.522																																						dbGAP											0													119.0	108.0	112.0					10																	118368603		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1379C>T	10.37:g.118368603C>T	ENSP00000433933:p.Thr460Met		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.T460M	ENST00000528052.1	37	c.1379	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	-	6.765	0.510096	0.12883	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	T;T;T	0.65364	-0.15;-0.15;-0.15	5.24	1.45	0.22620	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.468694	0.20912	N	0.083443	T	0.36166	0.0957	N	0.08118	0	0.09310	N	1	B	0.30439	0.279	B	0.24701	0.055	T	0.26503	-1.0101	10	0.62326	D	0.03	-2.0041	7.9228	0.29857	0.0:0.2631:0.0:0.7369	.	460	P54315	LIPR1_HUMAN	M	460	ENSP00000351695:T460M;ENSP00000433933:T460M;ENSP00000434159:T460M	ENSP00000351695:T460M	T	+	2	0	PNLIPRP1	118358593	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.594000	0.24014	0.286000	0.22352	-0.320000	0.08662	ACG	PNLIPRP1	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc	ENSG00000187021		0.522	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	43	0.00	0	C	NM_006229		118368603	118368603	+1	no_errors	ENST00000358834	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	0.005	T
SEC16B	89866	genome.wustl.edu	37	1	177905472	177905472	+	Silent	SNP	G	G	A			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr1:177905472G>A	ENST00000308284.6	-	20	2621	c.2532C>T	c.(2530-2532)tcC>tcT	p.S844S	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	844					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAGGAGGCTGGGAAGTTTCTT	0.458																																						dbGAP											0													142.0	137.0	139.0					1																	177905472		1994	4189	6183	-	-	-	SO:0001819	synonymous_variant	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2532C>T	1.37:g.177905472G>A			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	NULL	p.S844	ENST00000308284.6	37	c.2532	CCDS44281.1	1																																																																																			SEC16B	-	NULL	ENSG00000120341		0.458	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	Clone_based_vega_gene	protein_coding	OTTHUMT00000084773.16	35	0.00	0	G	NM_033127		177905472	177905472	-1	no_errors	ENST00000308284	ensembl	human	known	69_37n	silent	22	33.33	11	SNP	0.003	A
SEMA5B	54437	genome.wustl.edu	37	3	122634434	122634434	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr3:122634434G>A	ENST00000357599.3	-	14	2227	c.1841C>T	c.(1840-1842)cCa>cTa	p.P614L	SEMA5B_ENST00000451055.2_Missense_Mutation_p.P668L|SEMA5B_ENST00000195173.4_Missense_Mutation_p.P614L	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	614					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGTGACCATGGGCCGAAGCC	0.577																																						dbGAP											0													62.0	61.0	61.0					3																	122634434		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1841C>T	3.37:g.122634434G>A	ENSP00000350215:p.Pro614Leu		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.P668L	ENST00000357599.3	37	c.2003	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459771	0.43736	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	4.88	3.97	0.46021	.	0.167536	0.53938	D	0.000047	T	0.19805	0.0476	L	0.59912	1.85	0.58432	D	0.999999	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.005;0.002;0.002	T	0.03240	-1.1057	10	0.59425	D	0.04	.	13.2762	0.60188	0.0:0.0:0.8144:0.1856	.	556;614;614	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	L	614;614;556;668;614	ENSP00000350215:P614L;ENSP00000195173:P614L;ENSP00000389588:P668L;ENSP00000377208:P614L	ENSP00000195173:P614L	P	-	2	0	SEMA5B	124117124	1.000000	0.71417	0.971000	0.41717	0.691000	0.40173	6.421000	0.73353	1.141000	0.42275	0.561000	0.74099	CCA	SEMA5B	-	superfamily_Thrombospondin_1_rpt	ENSG00000082684		0.577	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	62	0.00	0	G	NM_001031702		122634434	122634434	-1	no_errors	ENST00000451055	ensembl	human	known	69_37n	missense	9	60.87	14	SNP	0.993	A
SYCP2	10388	genome.wustl.edu	37	20	58467628	58467628	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr20:58467628T>C	ENST00000357552.3	-	23	2147	c.1922A>G	c.(1921-1923)aAt>aGt	p.N641S	SYCP2_ENST00000371001.2_Missense_Mutation_p.N641S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	641					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTCACCTTGATTCAATGTGTC	0.303																																						dbGAP											0													135.0	124.0	128.0					20																	58467628		2202	4299	6501	-	-	-	SO:0001583	missense	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1922A>G	20.37:g.58467628T>C	ENSP00000350162:p.Asn641Ser		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.N641S	ENST00000357552.3	37	c.1922	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	T	3.535	-0.094996	0.07010	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.17691	2.54;2.54;2.26	5.37	-1.31	0.09230	.	0.555046	0.18519	N	0.138821	T	0.08626	0.0214	N	0.21448	0.665	0.09310	N	1	B	0.16396	0.017	B	0.17433	0.018	T	0.19844	-1.0293	10	0.42905	T	0.14	-5.3626	3.5801	0.07949	0.129:0.0784:0.4228:0.3698	.	641	Q9BX26	SYCP2_HUMAN	S	641	ENSP00000360040:N641S;ENSP00000350162:N641S;ENSP00000402456:N641S	ENSP00000350162:N641S	N	-	2	0	SYCP2	57901023	0.054000	0.20591	0.005000	0.12908	0.428000	0.31595	0.036000	0.13819	-0.441000	0.07201	0.482000	0.46254	AAT	SYCP2	-	NULL	ENSG00000196074		0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	236	0.00	0	T	NM_014258		58467628	58467628	-1	no_errors	ENST00000357552	ensembl	human	known	69_37n	missense	286	13.07	43	SNP	0.007	C
SZRD1	26099	genome.wustl.edu	37	1	16719821	16719821	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr1:16719821C>T	ENST00000401088.4	+	3	375	c.200C>T	c.(199-201)aCc>aTc	p.T67I	SPATA21_ENST00000466212.1_5'Flank|SZRD1_ENST00000471507.1_Missense_Mutation_p.T66I|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000492354.1_Missense_Mutation_p.T47I|SZRD1_ENST00000375590.3_Missense_Mutation_p.T47I|SZRD1_ENST00000401089.3_Missense_Mutation_p.T48I	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	67	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.																AAGAGGCCCACCAGCAACGGT	0.622																																						dbGAP											0													50.0	58.0	55.0					1																	16719821		2054	4179	6233	-	-	-	SO:0001583	missense	0			BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 144"""	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.200C>T	1.37:g.16719821C>T	ENSP00000383866:p.Thr67Ile		A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Missense_Mutation	SNP	NULL	p.T47I	ENST00000401088.4	37	c.140	CCDS44065.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824873	0.90955	.	.	ENSG00000055070	ENST00000401088;ENST00000471507;ENST00000401089;ENST00000434120;ENST00000375590;ENST00000492354	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.98	4.98	0.66077	SUZ domain (1);	0.196194	0.53938	D	0.000044	T	0.51534	0.1680	L	0.53249	1.67	0.80722	D	1	P;B;P;P	0.49783	0.904;0.223;0.835;0.928	P;B;P;P	0.50659	0.571;0.179;0.453;0.647	T	0.55611	-0.8114	10	0.66056	D	0.02	-3.8223	17.6293	0.88102	0.0:1.0:0.0:0.0	.	47;67;47;48	F8WEE8;Q7Z422;Q7Z422-2;Q7Z422-4	.;CA144_HUMAN;.;.	I	67;66;48;67;47;47	ENSP00000383866:T67I;ENSP00000419589:T66I;ENSP00000383867:T48I;ENSP00000364740:T47I;ENSP00000418012:T47I	ENSP00000364740:T47I	T	+	2	0	C1orf144	16592408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.952000	0.75989	2.455000	0.83008	0.561000	0.74099	ACC	SZRD1	-	NULL	ENSG00000055070		0.622	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SZRD1	HGNC	protein_coding	OTTHUMT00000006283.2	82	0.00	0	C	NM_015609		16719821	16719821	+1	no_errors	ENST00000375590	ensembl	human	known	69_37n	missense	70	22.83	21	SNP	1.000	T
TCF4	6925	genome.wustl.edu	37	18	52928697	52928697	+	Splice_Site	SNP	C	C	T			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr18:52928697C>T	ENST00000356073.4	-	12	1601	c.990G>A	c.(988-990)tcG>tcA	p.S330S	TCF4_ENST00000540999.1_Splice_Site_p.S306S|TCF4_ENST00000457482.3_Splice_Site_p.S170S|TCF4_ENST00000537856.3_Splice_Site_p.S200S|TCF4_ENST00000561992.1_Splice_Site_p.S200S|TCF4_ENST00000543082.1_Splice_Site_p.S288S|TCF4_ENST00000568673.1_Splice_Site_p.S306S|TCF4_ENST00000566279.1_Splice_Site_p.S270S|TCF4_ENST00000537578.1_Splice_Site_p.S306S|TCF4_ENST00000354452.3_Splice_Site_p.S330S|TCF4_ENST00000564999.1_Splice_Site_p.S330S|TCF4_ENST00000561831.3_Splice_Site_p.S170S|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000567880.1_Splice_Site_p.S270S|TCF4_ENST00000544241.2_Splice_Site_p.S259S|TCF4_ENST00000565018.2_Splice_Site_p.S330S|TCF4_ENST00000570287.2_Splice_Site_p.S170S|TCF4_ENST00000564228.1_Splice_Site_p.S259S|TCF4_ENST00000398339.1_Splice_Site_p.S432S|TCF4_ENST00000566286.1_Splice_Site_p.S328S|TCF4_ENST00000564403.2_Splice_Site_p.S336S|TCF4_ENST00000568740.1_Splice_Site_p.S305S|TCF4_ENST00000570177.2_Splice_Site_p.S200S	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	330					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ATTTCCTCACCGAAGCAAGTG	0.433																																						dbGAP											0													194.0	214.0	208.0					18																	52928697		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.990+1G>A	18.37:g.52928697C>T			B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	NULL	p.R85Q	ENST00000356073.4	37	c.254	CCDS11960.1	18																																																																																			TCF4	-	NULL	ENSG00000196628		0.433	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	636	0.00	0	C	NM_003199	Silent	52928697	52928697	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000570146	ensembl	human	putative	69_37n	missense	398	19.60	97	SNP	1.000	T
WNT2	7472	genome.wustl.edu	37	7	116918218	116918218	+	Silent	SNP	G	G	A	rs200807787		TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr7:116918218G>A	ENST00000265441.3	-	5	1373	c.1074C>T	c.(1072-1074)acC>acT	p.T358T		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	358					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GTCATGTAGCGGTTGTCCAGT	0.572																																						dbGAP											0													139.0	110.0	120.0					7																	116918218		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.1074C>T	7.37:g.116918218G>A			A4D0V1|Q75N05|Q9UDP9	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.T358	ENST00000265441.3	37	c.1074	CCDS5771.1	7																																																																																			WNT2	-	NULL	ENSG00000105989		0.572	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2	HGNC	protein_coding	OTTHUMT00000059749.3	49	0.00	0	G	NM_003391		116918218	116918218	-1	no_errors	ENST00000265441	ensembl	human	known	69_37n	silent	38	39.06	25	SNP	0.000	A
ZCCHC11	23318	genome.wustl.edu	37	1	52933940	52933940	+	Splice_Site	SNP	C	C	A			TCGA-A8-A090-01A-11W-A019-09	TCGA-A8-A090-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	783e4c13-8fa5-4591-9453-1e59ca167e10	26d576f7-f43a-4477-be3b-efd4337b48d7	g.chr1:52933940C>A	ENST00000371544.3	-	15	3141		c.e15-1		ZCCHC11_ENST00000257177.4_Splice_Site|ZCCHC11_ENST00000371541.1_Splice_Site	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11						cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GATAACTCATCTGGGTTTATA	0.303																																						dbGAP											0													44.0	43.0	43.0					1																	52933940		2203	4294	6497	-	-	-	SO:0001630	splice_region_variant	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2879-1G>T	1.37:g.52933940C>A			A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Splice_Site	SNP	-	e14-1	ENST00000371544.3	37	c.2879-1	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765297	0.69878	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6643	0.95887	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCCHC11	52706528	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	6.206000	0.72154	2.651000	0.90000	0.580000	0.79431	.	ZCCHC11	-	-	ENSG00000134744		0.303	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	76	0.00	0	C	XM_038288	Intron	52933940	52933940	-1	no_errors	ENST00000257177	ensembl	human	known	69_37n	splice_site	64	37.25	38	SNP	1.000	A
