#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
CCR2	729230	genome.wustl.edu	37	3	46399979	46399979	+	Intron	SNP	C	C	T			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr3:46399979C>T	ENST00000400888.2	+	1	980				CCR2_ENST00000292301.4_Intron|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Nonsense_Mutation_p.R321*			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2						blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)	p.R321*(1)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GGTGTTCTTCCGAAAGCACAT	0.502																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											110.0	96.0	100.0					3																	46399979		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0				CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.941+20C>T	3.37:g.46399979C>T			A0AVQ3|B2RMT0|Q4VBL2	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CCR2	p.R321*	ENST00000400888.2	37	c.961	CCDS43078.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.579487	0.96565	.	.	ENSG00000121807	ENST00000445132	.	.	.	4.78	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	12.494	0.55916	0.1733:0.8267:0.0:0.0	.	.	.	.	X	321	.	ENSP00000399285:R321X	R	+	1	2	CCR2	46374983	1.000000	0.71417	0.999000	0.59377	0.078000	0.17371	1.935000	0.40173	1.083000	0.41159	0.460000	0.39030	CGA	CCR2	-	prints_Chemokine_rcpt,prints_Chemokine_CCR2	ENSG00000121807		0.502	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCR2	HGNC	protein_coding	OTTHUMT00000344292.1	134	0.00	0	C	NM_000647		46399979	46399979	+1	no_errors	ENST00000445132	ensembl	human	known	69_37n	nonsense	76	29.36	32	SNP	1.000	T
CDH1	999	genome.wustl.edu	37	16	68862179	68862180	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr16:68862179_68862180insT	ENST00000261769.5	+	14	2458_2459	c.2267_2268insT	c.(2266-2271)gatgaafs	p.E757fs	CDH1_ENST00000422392.2_Frame_Shift_Ins_p.E696fs|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	757					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.E757fs*1(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TATTACTATGATGAAGAAGGAG	0.49			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2268dupT	16.37:g.68862180_68862180dupT	ENSP00000261769:p.Glu757fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E757fs	ENST00000261769.5	37	c.2267_2268	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000039068		0.490	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	113	0.00	0	-	NM_004360		68862179	68862180	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	58	29.27	24	INS	1.000:0.999	T
CNNM1	26507	genome.wustl.edu	37	10	101150099	101150099	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr10:101150099C>G	ENST00000356713.4	+	10	3000	c.2711C>G	c.(2710-2712)aCa>aGa	p.T904R	CNNM1_ENST00000370528.3_Missense_Mutation_p.T783R|CNNM1_ENST00000446890.1_Missense_Mutation_p.T833R|CNNM1_ENST00000370534.4_Missense_Mutation_p.T560R	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	904					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.T904R(1)|p.T539R(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AACCTGGATACAGAGACCAGC	0.473																																						dbGAP											2	Substitution - Missense(2)	breast(2)											126.0	99.0	108.0					10																	101150099		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2711C>G	10.37:g.101150099C>G	ENSP00000349147:p.Thr904Arg		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.T904R	ENST00000356713.4	37	c.2711	CCDS7478.2	10	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434238	0.25813	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.81	3.91	0.45181	.	0.762940	0.12111	N	0.498562	T	0.60650	0.2285	N	0.08118	0	0.09310	N	1	B;B;B	0.21905	0.045;0.062;0.052	B;B;B	0.24974	0.024;0.029;0.057	T	0.54695	-0.8255	10	0.56958	D	0.05	-30.0143	9.43	0.38604	0.0:0.8352:0.0:0.1648	.	560;854;904	F5H5J0;Q9NRU3-2;Q9NRU3	.;.;CNNM1_HUMAN	R	904;833;783;560;357	ENSP00000349147:T904R;ENSP00000406492:T833R;ENSP00000359559:T783R;ENSP00000359565:T560R	ENSP00000349147:T904R	T	+	2	0	CNNM1	101140089	0.014000	0.17966	0.969000	0.41365	0.550000	0.35303	2.447000	0.44917	1.159000	0.42565	0.591000	0.81541	ACA	CNNM1	-	NULL	ENSG00000119946		0.473	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	114	0.00	0	C	NM_020348		101150099	101150099	+1	no_errors	ENST00000356713	ensembl	human	known	69_37n	missense	81	27.68	31	SNP	0.199	G
CPT1A	1374	genome.wustl.edu	37	11	68548116	68548116	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr11:68548116G>C	ENST00000265641.5	-	12	1604	c.1450C>G	c.(1450-1452)Ctt>Gtt	p.L484V	CPT1A_ENST00000376618.2_Missense_Mutation_p.L484V|CPT1A_ENST00000540367.1_Missense_Mutation_p.L484V|CPT1A_ENST00000539743.1_Missense_Mutation_p.L484V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	484			L -> P (in CPT1AD). {ECO:0000269|PubMed:11441142}.		carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.L484V(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	ACCTCCCAAAGGTGGGCCACG	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	82.0	87.0					11																	68548116		2200	4294	6494	-	-	-	SO:0001583	missense	0			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1450C>G	11.37:g.68548116G>C	ENSP00000265641:p.Leu484Val		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.L484V	ENST00000265641.5	37	c.1450	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	G	9.430	1.085365	0.20390	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.46	1.24	0.21308	.	0.072630	0.56097	D	0.000030	D	0.89473	0.6725	M	0.77712	2.385	0.47153	D	0.99933	B;B	0.30686	0.29;0.246	B;B	0.37989	0.262;0.121	T	0.82690	-0.0332	10	0.40728	T	0.16	.	7.5742	0.27926	0.129:0.0:0.646:0.2251	.	484;484	P50416;P50416-2	CPT1A_HUMAN;.	V	484	ENSP00000439084:L484V;ENSP00000365803:L484V;ENSP00000265641:L484V;ENSP00000446108:L484V	ENSP00000265641:L484V	L	-	1	0	CPT1A	68304692	1.000000	0.71417	0.016000	0.15963	0.110000	0.19582	4.362000	0.59467	-0.027000	0.13873	0.655000	0.94253	CTT	CPT1A	-	pfam_Carn_acyl_trans	ENSG00000110090		0.512	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	82	0.00	0	G	NM_001876		68548116	68548116	-1	no_errors	ENST00000265641	ensembl	human	known	69_37n	missense	161	33.74	83	SNP	0.996	C
CTPS2	56474	genome.wustl.edu	37	X	16716365	16716365	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chrX:16716365delA	ENST00000443824.1	-	4	1175	c.432delT	c.(430-432)gttfs	p.V144fs	CTPS2_ENST00000359276.4_Frame_Shift_Del_p.V144fs|CTPS2_ENST00000380241.3_Frame_Shift_Del_p.V144fs	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	144					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)	p.I145fs*60(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TTGCCTCAATAACGCATATTT	0.423																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											201.0	196.0	198.0					X																	16716365		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.432delT	X.37:g.16716365delA	ENSP00000401264:p.Val144fs		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Frame_Shift_Del	DEL	pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase	p.I145fs	ENST00000443824.1	37	c.432	CCDS14175.1	X																																																																																			CTPS2	-	pfam_CTP_synthase_N,tigrfam_CTP_synthase	ENSG00000047230		0.423	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS2	HGNC	protein_coding	OTTHUMT00000055906.1	150	0.00	0	A	NM_019857		16716365	16716365	-1	no_errors	ENST00000359276	ensembl	human	known	69_37n	frame_shift_del	96	17.09	20	DEL	0.098	-
PBDC1	51260	genome.wustl.edu	37	X	75392998	75392998	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chrX:75392998G>A	ENST00000373358.3	+	1	228	c.25G>A	c.(25-27)Gag>Aag	p.E9K	PBDC1_ENST00000373357.3_Missense_Mutation_p.E9K	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	9								p.E9K(1)									TGGAACTGATGAGCCGGTGAG	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											41.0	41.0	41.0					X																	75392998		2184	4271	6455	-	-	-	SO:0001583	missense	0			BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.25G>A	X.37:g.75392998G>A	ENSP00000362456:p.Glu9Lys			Missense_Mutation	SNP	pfam_Put_polysacc_synth	p.E9K	ENST00000373358.3	37	c.25	CCDS14432.1	X	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027258	0.35797	.	.	ENSG00000102390	ENST00000373358;ENST00000373357	.	.	.	3.83	2.97	0.34412	.	0.660669	0.15715	N	0.248190	T	0.32285	0.0824	L	0.44542	1.39	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.25882	-1.0119	9	0.59425	D	0.04	-0.057	6.4989	0.22158	0.1335:0.0:0.8665:0.0	.	9	Q9BVG4	CX026_HUMAN	K	9	.	ENSP00000362455:E9K	E	+	1	0	CXorf26	75309400	0.055000	0.20627	0.003000	0.11579	0.015000	0.08874	1.586000	0.36611	0.992000	0.38840	0.589000	0.80489	GAG	CXorf26	-	NULL	ENSG00000102390		0.572	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf26	HGNC	protein_coding	OTTHUMT00000057294.1	160	0.00	0	G	NM_016500		75392998	75392998	+1	no_errors	ENST00000373358	ensembl	human	known	69_37n	missense	127	15.23	23	SNP	0.003	A
DOCK2	1794	genome.wustl.edu	37	5	169135223	169135223	+	Silent	SNP	C	C	T			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr5:169135223C>T	ENST00000256935.8	+	15	1514	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.P5L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	478	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.S478S(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTATCGCTCCGTTGTGTACT	0.418																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											108.0	100.0	102.0					5																	169135223		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1434C>T	5.37:g.169135223C>T			Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like	p.P5L	ENST00000256935.8	37	c.14	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	3.934	-0.015497	0.07681	.	.	ENSG00000134516	ENST00000520908	T	0.05447	3.44	5.75	-8.29	0.01009	.	.	.	.	.	T	0.04318	0.0119	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26608	-1.0098	8	0.87932	D	0	.	6.6239	0.22818	0.1511:0.1717:0.0727:0.6045	.	5	E7ERW7	.	L	5	ENSP00000429283:P5L	ENSP00000429283:P5L	P	+	2	0	DOCK2	169067801	0.000000	0.05858	0.154000	0.22540	0.157000	0.22087	-4.463000	0.00230	-1.698000	0.01418	-0.367000	0.07326	CCG	DOCK2	-	NULL	ENSG00000134516		0.418	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	117	0.00	0	C	NM_004946		169135223	169135223	+1	no_errors	ENST00000520908	ensembl	human	putative	69_37n	missense	100	13.68	16	SNP	0.009	T
FAM111B	374393	genome.wustl.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity (GO:0003824)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313																																						dbGAP											3	Deletion - Frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(2)|ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.807delA	11.37:g.58892377delA	ENSP00000341565:p.Ser269fs		B4E2G2|Q6P661	Frame_Shift_Del	DEL	superfamily_Pept_cys/ser_Trypsin-like	p.K272fs	ENST00000343597.3	37	c.807	CCDS7972.1	11																																																																																			FAM111B	-	NULL	ENSG00000189057		0.313	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1	74	0.00	0	A	NM_198947		58892377	58892377	+1	no_errors	ENST00000343597	ensembl	human	known	69_37n	frame_shift_del	35	10.26	4	DEL	0.000	-
FAM193A	8603	genome.wustl.edu	37	4	2717831	2717831	+	Splice_Site	SNP	G	G	C			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr4:2717831G>C	ENST00000324666.5	+	19	4055	c.3704G>C	c.(3703-3705)aGg>aCg	p.R1235T	FAM193A_ENST00000545951.1_Splice_Site_p.R1194T|FAM193A_ENST00000505311.1_Splice_Site_p.R1194T|FAM193A_ENST00000382839.3_Splice_Site_p.R1194T|FAM193A_ENST00000502458.1_Splice_Site_p.R1216T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1235								p.R1194T(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TATTTCAAAAGGTAAATGTGG	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											189.0	179.0	182.0					4																	2717831		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3704+1G>C	4.37:g.2717831G>C			B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.R1235T	ENST00000324666.5	37	c.3704	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893416	0.72639	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.5	5.5	0.81552	.	0.000000	0.85682	U	0.000000	T	0.65186	0.2667	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.997;1.0;0.997;0.999	D;D;D;D;D	0.87578	0.981;0.993;0.998;0.993;0.998	T	0.66945	-0.5795	10	0.87932	D	0	-23.1062	17.9398	0.89023	0.0:0.0:1.0:0.0	.	1194;1216;1235;1216;1194	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	T	1194;1235;1194;1216	ENSP00000372290:R1194T;ENSP00000324587:R1235T;ENSP00000443617:R1194T;ENSP00000427505:R1216T	ENSP00000324587:R1235T	R	+	2	0	FAM193A	2687629	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.464000	0.90380	2.565000	0.86533	0.591000	0.81541	AGG;AGG;AGA;AGG	FAM193A	-	NULL	ENSG00000125386		0.413	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	261	0.00	0	G	NM_003704	Missense_Mutation	2717831	2717831	+1	no_errors	ENST00000324666	ensembl	human	known	69_37n	missense	147	22.51	43	SNP	1.000	C
FUBP1	8880	genome.wustl.edu	37	1	78414918	78414918	+	Silent	SNP	A	A	G			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr1:78414918A>G	ENST00000370768.2	-	19	1929	c.1848T>C	c.(1846-1848)gcT>gcC	p.A616A	FUBP1_ENST00000436586.2_Silent_p.A637A|FUBP1_ENST00000489495.1_5'Flank|FUBP1_ENST00000370767.1_Silent_p.A616A	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	616					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.A616A(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TATAATACTCAGCCCAGGCTG	0.483			"""F, N"""		oligodendroglioma																																	dbGAP		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	1	Substitution - coding silent(1)	breast(1)											93.0	96.0	95.0					1																	78414918		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1848T>C	1.37:g.78414918A>G			Q12828	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.A637	ENST00000370768.2	37	c.1911	CCDS683.1	1																																																																																			FUBP1	-	pfam_DUF1897	ENSG00000162613		0.483	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3	127	0.00	0	A	NM_003902		78414918	78414918	-1	no_errors	ENST00000436586	ensembl	human	known	69_37n	silent	56	38.04	35	SNP	0.990	G
GPR37	2861	genome.wustl.edu	37	7	124387024	124387024	+	Missense_Mutation	SNP	G	G	A	rs538782485		TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr7:124387024G>A	ENST00000303921.2	-	2	2047	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	466					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.A466V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATTTTCCTCGCAGTCACTAG	0.488													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19729	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											120.0	109.0	113.0					7																	124387024		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1397C>T	7.37:g.124387024G>A	ENSP00000306449:p.Ala466Val		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.A466V	ENST00000303921.2	37	c.1397	CCDS5792.1	7	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584189	0.86748	.	.	ENSG00000170775	ENST00000303921	T	0.35421	1.31	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.48554	0.1506	L	0.42245	1.32	0.80722	D	1	D	0.61080	0.989	P	0.60415	0.874	T	0.14476	-1.0471	10	0.17369	T	0.5	-17.5112	18.8936	0.92414	0.0:0.0:1.0:0.0	.	466	O15354	GPR37_HUMAN	V	466	ENSP00000306449:A466V	ENSP00000306449:A466V	A	-	2	0	GPR37	124174260	1.000000	0.71417	0.948000	0.38648	0.872000	0.50106	9.869000	0.99810	2.698000	0.92095	0.655000	0.94253	GCG	GPR37	-	pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170775		0.488	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1	116	0.00	0	G	NM_005302		124387024	124387024	-1	no_errors	ENST00000303921	ensembl	human	known	69_37n	missense	90	26.61	33	SNP	1.000	A
HCFC1R1	54985	genome.wustl.edu	37	16	3073329	3073331	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr16:3073329_3073331delCTC	ENST00000248089.3	-	3	488_490	c.184_186delGAG	c.(184-186)gagdel	p.E62del	HCFC1R1_ENST00000354679.3_In_Frame_Del_p.E60del|THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000574980.1_In_Frame_Del_p.E62del|HCFC1R1_ENST00000572355.1_In_Frame_Del_p.E22del|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000253952.9_5'Flank|THOC6_ENST00000326266.8_5'Flank|HCFC1R1_ENST00000574151.1_In_Frame_Del_p.E43del|HCFC1R1_ENST00000396916.1_In_Frame_Del_p.E62del	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	62						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E43delE(1)|p.E62delE(1)		breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						TGGCCATGTTCTCCTCAGACAGA	0.616																																						dbGAP											2	Deletion - In frame(2)	breast(2)																																								-	-	-	SO:0001651	inframe_deletion	0			AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.184_186delGAG	16.37:g.3073332_3073334delCTC	ENSP00000248089:p.Glu62del		D3DUA7|Q68EN7	In_Frame_Del	DEL	NULL	p.E62in_frame_del	ENST00000248089.3	37	c.186_184	CCDS10490.1	16																																																																																			HCFC1R1	-	NULL	ENSG00000103145		0.616	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	HCFC1R1	HGNC	protein_coding	OTTHUMT00000436969.1	95	0.00	0	CTC	NM_017885		3073329	3073331	-1	no_errors	ENST00000248089	ensembl	human	known	69_37n	in_frame_del	97	10.19	11	DEL	1.000:1.000:1.000	-
HMGCLL1	54511	genome.wustl.edu	37	6	55441924	55441924	+	Silent	SNP	G	G	C			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr6:55441924G>C	ENST00000398661.2	-	2	281	c.150C>G	c.(148-150)gtC>gtG	p.V50V	HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Intron|HMGCLL1_ENST00000358072.5_Intron|HMGCLL1_ENST00000308161.4_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	50					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.V50V(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			agaagccagagacatcgggct	0.458																																					Ovarian(35;840 893 7837 15538 42887)	dbGAP											1	Substitution - coding silent(1)	breast(1)											45.0	49.0	48.0					6																	55441924		1919	4142	6061	-	-	-	SO:0001819	synonymous_variant	0			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.150C>G	6.37:g.55441924G>C			B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Silent	SNP	pfam_PYR_CT,pfscan_PYR_CT	p.V50	ENST00000398661.2	37	c.150	CCDS43475.1	6																																																																																			HMGCLL1	-	NULL	ENSG00000146151		0.458	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	HMGCLL1	HGNC	protein_coding	OTTHUMT00000360290.1	72	0.00	0	G	XM_166383		55441924	55441924	-1	no_errors	ENST00000398661	ensembl	human	known	69_37n	silent	64	47.97	59	SNP	0.007	C
HMGCLL1	54511	genome.wustl.edu	37	6	55443840	55443841	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr6:55443840_55443841GG>AC	ENST00000398661.2	-	1	144_145	c.13_14CC>GT	c.(13-15)CCa>GTa	p.P5V	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.P5V|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.P5V|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.P5V|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P5V|HMGCLL1_ENST00000358072.5_Missense_Mutation_p.P5V|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P5V	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	5					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACCGCGGATGGCACATTCCCC	0.688																																					Ovarian(35;840 893 7837 15538 42887)	dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.13_14delinsAC	6.37:g.55443840_55443841delinsAC	ENSP00000381654:p.Pro5Val		B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	pfam_PYR_CT,pfscan_PYR_CT	p.P5L|p.P5A	ENST00000398661.2	37	c.14|c.13	CCDS43475.1	6																																																																																			HMGCLL1	-	NULL	ENSG00000146151		0.688	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	HMGCLL1	HGNC	protein_coding	OTTHUMT00000360290.1	34	0.00	0	G	XM_166383		55443840|55443841	55443840|55443841	-1	no_errors	ENST00000398661	ensembl	human	known	69_37n	missense	24|25	57.63	34	SNP	0.975|0.986	A|C
HS6ST1	9394	genome.wustl.edu	37	2	129075877	129075877	+	Missense_Mutation	SNP	G	G	T	rs200979099		TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr2:129075877G>T	ENST00000259241.6	-	1	274	c.261C>A	c.(259-261)gaC>gaA	p.D87E	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	87					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGACGATCACGTCGTCGCCCT	0.657																																						dbGAP											0													10.0	16.0	14.0					2																	129075877		1658	4004	5662	-	-	-	SO:0001583	missense	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.261C>A	2.37:g.129075877G>T	ENSP00000259241:p.Asp87Glu		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase	p.D87E	ENST00000259241.6	37	c.261	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	g	21.7	4.181914	0.78677	.	.	ENSG00000136720	ENST00000259241	T	0.74947	-0.89	3.69	2.78	0.32641	.	0.000000	0.85682	U	0.000000	D	0.84924	0.5580	M	0.88031	2.925	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.84908	0.0846	9	.	.	.	.	6.5213	0.22277	0.2434:0.0:0.7566:0.0	.	87	O60243	H6ST1_HUMAN	E	87	ENSP00000259241:D87E	.	D	-	3	2	HS6ST1	128792347	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.938000	0.40203	1.600000	0.50102	0.313000	0.20887	GAC	HS6ST1	-	pfam_Sulfotransferase	ENSG00000136720		0.657	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	16	0.00	0	G	NM_004807		129075877	129075877	-1	no_errors	ENST00000259241	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	T
IL11RA	3590	genome.wustl.edu	37	9	34655292	34655292	+	Silent	SNP	C	C	T			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr9:34655292C>T	ENST00000555003.1	+	2	1434	c.78C>T	c.(76-78)tgC>tgT	p.C26C	IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000378817.4_Silent_p.C26C|IL11RA_ENST00000602473.1_Silent_p.C26C|GALT_ENST00000556278.1_Silent_p.C170C|IL11RA_ENST00000441545.2_Silent_p.C26C|IL11RA_ENST00000318041.9_Silent_p.C26C			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	26					developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.C26C(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCTCCCCCTGCCCCCAGGCCT	0.637																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											21.0	19.0	20.0					9																	34655292		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.78C>T	9.37:g.34655292C>T			Q16542|Q5VZ80|Q7KYJ7	Silent	SNP	superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.C26	ENST00000555003.1	37	c.78	CCDS6567.1	9																																																																																			IL11RA	-	NULL	ENSG00000137070		0.637	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL11RA	HGNC	protein_coding	OTTHUMT00000410625.1	24	0.00	0	C	NM_001142784		34655292	34655292	+1	no_errors	ENST00000318041	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	0.975	T
IL1R2	7850	genome.wustl.edu	37	2	102626044	102626044	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr2:102626044T>A	ENST00000332549.3	+	3	317	c.88T>A	c.(88-90)Ttt>Att	p.F30I	IL1R2_ENST00000393414.2_Missense_Mutation_p.F30I|IL1R2_ENST00000441002.1_Missense_Mutation_p.F30I	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	30	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.F30I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						AAGCTGCCGGTTTCGTGGGAG	0.602																																					Pancreas(106;189 1628 2302 5133 12295)	dbGAP											1	Substitution - Missense(1)	breast(1)											93.0	97.0	96.0					2																	102626044		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.88T>A	2.37:g.102626044T>A	ENSP00000330959:p.Phe30Ile		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II	p.F30I	ENST00000332549.3	37	c.88	CCDS2054.1	2	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553590	0.27739	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.34667	2.07;2.07;1.35;2.11	5.8	1.76	0.24704	Immunoglobulin-like (1);	0.559934	0.18438	N	0.141224	T	0.33498	0.0865	M	0.63428	1.95	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.25984	-1.0116	10	0.31617	T	0.26	.	11.7648	0.51924	0.0:0.0:0.4499:0.5501	.	30	P27930	IL1R2_HUMAN	I	30	ENSP00000330959:F30I;ENSP00000377066:F30I;ENSP00000408415:F30I;ENSP00000414611:F30I	ENSP00000330959:F30I	F	+	1	0	IL1R2	101992476	0.003000	0.15002	0.001000	0.08648	0.018000	0.09664	0.533000	0.23082	1.005000	0.39183	0.459000	0.35465	TTT	IL1R2	-	pfscan_Ig-like	ENSG00000115590		0.602	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1	72	0.00	0	T	NM_004633		102626044	102626044	+1	no_errors	ENST00000332549	ensembl	human	known	69_37n	missense	46	24.19	15	SNP	0.000	A
KDM6A	7403	genome.wustl.edu	37	X	44896936	44896936	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chrX:44896936T>G	ENST00000377967.4	+	8	695		c.e8+2		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(4)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAACCCAGGTAAGTATTTTA	0.308			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	11	Whole gene deletion(6)|No detectable mRNA/protein(4)|Unknown(1)	haematopoietic_and_lymphoid_tissue(4)|breast(3)|oesophagus(2)|pancreas(2)											98.0	93.0	95.0					X																	44896936		2202	4297	6499	-	-	-	SO:0001630	splice_region_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.654+2T>G	X.37:g.44896936T>G			Q52LL9|Q5JVQ7	Splice_Site	SNP	-	e8+2	ENST00000377967.4	37	c.654+2	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133743	0.77662	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9992	0.71459	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44781880	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.708000	0.74660	1.993000	0.58246	0.481000	0.45027	.	KDM6A	-	-	ENSG00000147050		0.308	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	177	0.00	0	T	NM_021140	Intron	44896936	44896936	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	splice_site	104	26.06	37	SNP	1.000	G
LRP2	4036	genome.wustl.edu	37	2	170060647	170060647	+	Missense_Mutation	SNP	C	C	A	rs534858438		TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr2:170060647C>A	ENST00000263816.3	-	42	8135	c.7850G>T	c.(7849-7851)cGa>cTa	p.R2617L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2617					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2617L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTGTTAGCTCGGTAAATTCT	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											189.0	196.0	194.0					2																	170060647		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7850G>T	2.37:g.170060647C>A	ENSP00000263816:p.Arg2617Leu		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R2617L	ENST00000263816.3	37	c.7850	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852896	0.91355	.	.	ENSG00000081479	ENST00000263816	D	0.91894	-2.93	5.78	4.91	0.64330	Six-bladed beta-propeller, TolB-like (1);	0.058056	0.64402	D	0.000003	D	0.97439	0.9162	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98628	1.0670	10	0.87932	D	0	.	15.1135	0.72380	0.0:0.9321:0.0:0.0679	.	2617	P98164	LRP2_HUMAN	L	2617	ENSP00000263816:R2617L	ENSP00000263816:R2617L	R	-	2	0	LRP2	169768893	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.097000	0.71452	1.454000	0.47793	-0.126000	0.14955	CGA	LRP2	-	smart_LDLR_classB_rpt	ENSG00000081479		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	219	0.00	0	C	NM_004525		170060647	170060647	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	130	20.61	34	SNP	1.000	A
MFSD11	79157	genome.wustl.edu	37	17	74735072	74735072	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr17:74735072C>G	ENST00000588460.1	+	2	2191	c.149C>G	c.(148-150)aCc>aGc	p.T50S	MFSD11_ENST00000590514.1_Missense_Mutation_p.T50S|MFSD11_ENST00000586622.1_Missense_Mutation_p.T50S|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_Missense_Mutation_p.T50S|SRSF2_ENST00000392485.2_5'Flank|SRSF2_ENST00000508921.3_5'Flank|SRSF2_ENST00000359995.5_5'Flank|MFSD11_ENST00000593181.1_Missense_Mutation_p.T50S|MFSD11_ENST00000355954.3_Missense_Mutation_p.T50S	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	50						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						AGTGGATATACCAGGTATTGT	0.358																																						dbGAP											0													121.0	110.0	114.0					17																	74735072		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.149C>G	17.37:g.74735072C>G	ENSP00000464932:p.Thr50Ser		O43442|Q9NXI5	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T50S	ENST00000588460.1	37	c.149	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043211	0.93685	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.43294	0.95;0.95	5.43	5.43	0.79202	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	M	0.80746	2.51	0.80722	D	1	P;P	0.47762	0.9;0.88	B;P	0.57009	0.39;0.811	T	0.66027	-0.6025	10	0.49607	T	0.09	-28.0564	19.2397	0.93877	0.0:1.0:0.0:0.0	.	50;50	O43934-2;O43934	.;MFS11_HUMAN	S	50	ENSP00000337240:T50S;ENSP00000348225:T50S	ENSP00000337240:T50S	T	+	2	0	MFSD11	72246667	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.079000	0.57613	2.540000	0.85666	0.561000	0.74099	ACC	MFSD11	-	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000092931		0.358	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	152	0.00	0	C	NM_024311		74735072	74735072	+1	no_errors	ENST00000336509	ensembl	human	known	69_37n	missense	82	27.83	32	SNP	1.000	G
NLRC4	58484	genome.wustl.edu	37	2	32460481	32460481	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr2:32460481A>G	ENST00000404025.2	-	9	3259	c.2771T>C	c.(2770-2772)aTt>aCt	p.I924T	NLRC4_ENST00000360906.5_Missense_Mutation_p.I924T|NLRC4_ENST00000402280.1_Missense_Mutation_p.I924T|NLRC4_ENST00000342905.6_Missense_Mutation_p.I259T			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	924					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.I924T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAAAATTCTAATCTCTGTATC	0.428																																						dbGAP											1	Substitution - Missense(1)	breast(1)											163.0	160.0	161.0					2																	32460481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2771T>C	2.37:g.32460481A>G	ENSP00000385090:p.Ile924Thr		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.I924T	ENST00000404025.2	37	c.2771	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	A	7.604	0.673300	0.14776	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.66	4.66	0.58398	.	0.214340	0.23413	N	0.048453	T	0.41971	0.1182	L	0.27053	0.805	0.34074	D	0.658825	P;P	0.37330	0.59;0.455	B;B	0.40602	0.334;0.093	T	0.58476	-0.7630	9	0.49607	T	0.09	-4.5577	10.3935	0.44188	1.0:0.0:0.0:0.0	.	259;924	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	T	924;924;259;924	ENSP00000354159:I924T;ENSP00000385428:I924T;ENSP00000339666:I259T;ENSP00000385090:I924T	ENSP00000339666:I259T	I	-	2	0	NLRC4	32313985	0.832000	0.29368	0.155000	0.22561	0.079000	0.17450	2.731000	0.47343	1.953000	0.56701	0.533000	0.62120	ATT	NLRC4	-	NULL	ENSG00000091106		0.428	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	144	0.00	0	A	NM_021209		32460481	32460481	-1	no_errors	ENST00000360906	ensembl	human	known	69_37n	missense	105	19.08	25	SNP	0.118	G
PCDHGA12	26025	genome.wustl.edu	37	5	140812078	140812078	+	Silent	SNP	C	C	A			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr5:140812078C>A	ENST00000252085.3	+	1	1894	c.1752C>A	c.(1750-1752)ccC>ccA	p.P584P	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	584	Cadherin 6. {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)	p.P584P(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCAGAGCCCGGCTACCTGG	0.672																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											73.0	85.0	81.0					5																	140812078		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1752C>A	5.37:g.140812078C>A			O15100|Q6UW70|Q9Y5D7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P584	ENST00000252085.3	37	c.1752	CCDS4260.1	5																																																																																			PCDHGA12	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000253159		0.672	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	48	0.00	0	C	NM_003735		140812078	140812078	+1	no_errors	ENST00000252085	ensembl	human	known	69_37n	silent	32	40.74	22	SNP	0.108	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	75	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	1.000	G
PPCDC	60490	genome.wustl.edu	37	15	75341501	75341501	+	Silent	SNP	C	C	T			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr15:75341501C>T	ENST00000342932.3	+	6	684	c.540C>T	c.(538-540)gcC>gcT	p.A180A	PPCDC_ENST00000567336.1_Silent_p.A148A|PPCDC_ENST00000564923.1_Silent_p.A105A|PPCDC_ENST00000563393.1_Silent_p.A57A|PPCDC_ENST00000568649.1_Silent_p.A137A	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	180					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	phosphopantothenoylcysteine decarboxylase activity (GO:0004633)	p.A180A(1)		breast(1)|cervix(1)	2						GTCTCGGGGCCATGGCTGAAG	0.582																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											100.0	92.0	95.0					15																	75341501		2197	4295	6492	-	-	-	SO:0001819	synonymous_variant	0			AK027491	CCDS10275.1, CCDS73761.1, CCDS73759.1, CCDS73760.1	15q24.2	2005-08-16			ENSG00000138621	ENSG00000138621	4.1.1.36		28107	protein-coding gene	gene with protein product		609854				12975309, 11923312	Standard	XM_005254579		Approved	MDS018, FLJ14585	uc002azo.3	Q96CD2	OTTHUMG00000142824	ENST00000342932.3:c.540C>T	15.37:g.75341501C>T			Q96SX0|Q9HC17	Silent	SNP	pfam_Flavoprotein,superfamily_Flavoprotein	p.A180	ENST00000342932.3	37	c.540	CCDS10275.1	15																																																																																			PPCDC	-	superfamily_Flavoprotein	ENSG00000138621		0.582	PPCDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPCDC	HGNC	protein_coding	OTTHUMT00000286416.1	101	0.00	0	C	NM_021823		75341501	75341501	+1	no_errors	ENST00000342932	ensembl	human	known	69_37n	silent	64	26.44	23	SNP	1.000	T
SF3B2	10992	genome.wustl.edu	37	11	65825830	65825830	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr11:65825830C>T	ENST00000322535.6	+	9	969	c.920C>T	c.(919-921)tCa>tTa	p.S307L	SF3B2_ENST00000528302.1_Missense_Mutation_p.S290L	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	307					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.S307L(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CTGGGCCAGTCAGCGTCAGAG	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	94.0	98.0					11																	65825830		2201	4295	6496	-	-	-	SO:0001583	missense	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.920C>T	11.37:g.65825830C>T	ENSP00000318861:p.Ser307Leu		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.S307L	ENST00000322535.6	37	c.920	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780053	0.70222	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000355456;ENST00000530322	.	.	.	5.84	5.84	0.93424	.	0.551749	0.19941	N	0.102645	T	0.53238	0.1784	L	0.29908	0.895	0.46849	D	0.999227	B	0.06786	0.001	B	0.04013	0.001	T	0.42515	-0.9447	9	0.36615	T	0.2	-6.6746	17.6324	0.88113	0.0:1.0:0.0:0.0	.	307	Q13435	SF3B2_HUMAN	L	290;307;305;211;301	.	ENSP00000318861:S307L	S	+	2	0	SF3B2	65582406	0.993000	0.37304	0.990000	0.47175	0.993000	0.82548	4.242000	0.58714	2.767000	0.95098	0.561000	0.74099	TCA	SF3B2	-	NULL	ENSG00000087365		0.542	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	61	0.00	0	C			65825830	65825830	+1	no_errors	ENST00000322535	ensembl	human	known	69_37n	missense	85	25.22	29	SNP	0.997	T
SPEG	10290	genome.wustl.edu	37	2	220337000	220337000	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr2:220337000G>T	ENST00000312358.7	+	15	4019	c.3887G>T	c.(3886-3888)gGg>gTg	p.G1296V	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1296	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1296V(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGTGACGGGGAGGATGGTC	0.652																																						dbGAP											1	Substitution - Missense(1)	breast(1)											51.0	56.0	54.0					2																	220337000		2003	4161	6164	-	-	-	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3887G>T	2.37:g.220337000G>T	ENSP00000311684:p.Gly1296Val		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G1296V	ENST00000312358.7	37	c.3887	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279998	0.59758	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.54675	0.56	4.62	4.62	0.57501	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.39274	N	0.001418	T	0.71693	0.3370	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70436	-0.4872	10	0.20046	T	0.44	.	16.2406	0.82405	0.0:0.0:1.0:0.0	.	1296	Q15772	SPEG_HUMAN	V	1296	ENSP00000311684:G1296V	ENSP00000265327:G1296V	G	+	2	0	SPEG	220045244	1.000000	0.71417	0.994000	0.49952	0.896000	0.52359	8.866000	0.92307	2.122000	0.65172	0.561000	0.74099	GGG	SPEG	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000072195		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	25	0.00	0	G	NM_005876		220337000	220337000	+1	no_errors	ENST00000312358	ensembl	human	novel	69_37n	missense	21	19.23	5	SNP	1.000	T
TDRKH	11022	genome.wustl.edu	37	1	151748589	151748589	+	Silent	SNP	C	C	T			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr1:151748589C>T	ENST00000368822.1	-	8	1833	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	TDRKH_ENST00000368823.1_Silent_p.K396K|TDRKH_ENST00000440583.2_Silent_p.K176K|TDRKH_ENST00000368824.3_Silent_p.K400K|TDRKH_ENST00000458431.2_Silent_p.K400K|TDRKH_ENST00000368827.6_Silent_p.K400K|TDRKH_ENST00000484421.1_5'Flank|TDRKH_ENST00000368825.3_Silent_p.K355K			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	400	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)	p.K400K(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTGAGGTCCTTCAGTGGGC	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											72.0	73.0	72.0					1																	151748589		1956	4159	6115	-	-	-	SO:0001819	synonymous_variant	0			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.1200G>A	1.37:g.151748589C>T			D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.K400	ENST00000368822.1	37	c.1200	CCDS41394.1	1																																																																																			TDRKH	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000182134		0.542	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	HGNC	protein_coding	OTTHUMT00000036648.2	136	0.00	0	C	NM_006862		151748589	151748589	-1	no_errors	ENST00000368822	ensembl	human	known	69_37n	silent	107	15.08	19	SNP	0.787	T
THSD7A	221981	genome.wustl.edu	37	7	11581237	11581237	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr7:11581237C>T	ENST00000423059.4	-	6	1882	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	544	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R544H(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATTGGTAATGCGCCGCTTCCT	0.453										HNSCC(18;0.044)																												dbGAP											1	Substitution - Missense(1)	breast(1)											53.0	54.0	53.0					7																	11581237		1864	4102	5966	-	-	-	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1631G>A	7.37:g.11581237C>T	ENSP00000406482:p.Arg544His			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R544H	ENST00000423059.4	37	c.1631	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	7.530	0.658500	0.14645	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61040	0.14	5.63	1.8	0.24995	.	0.297432	0.38663	N	0.001605	T	0.29524	0.0736	N	0.04994	-0.135	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.12293	-1.0553	10	0.33141	T	0.24	.	5.4747	0.16690	0.1333:0.6008:0.0:0.2658	.	544	Q9UPZ6	THS7A_HUMAN	H	544	ENSP00000406482:R544H	ENSP00000262042:R544H	R	-	2	0	THSD7A	11547762	0.000000	0.05858	0.586000	0.28679	0.929000	0.56500	-0.102000	0.10956	0.114000	0.18032	-0.123000	0.14984	CGC	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.453	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	98	0.00	0	C	XM_928187.2		11581237	11581237	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	missense	70	23.91	22	SNP	0.091	T
VWDE	221806	genome.wustl.edu	37	7	12373131	12373131	+	Missense_Mutation	SNP	C	C	T	rs200508473	byFrequency	TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr7:12373131C>T	ENST00000275358.3	-	28	4906	c.4718G>A	c.(4717-4719)cGc>cAc	p.R1573H		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	1573	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)		p.R1573H(1)|p.R832H(1)		breast(4)|endometrium(2)|kidney(1)|skin(1)	8						GTATTCAGTGCGGCAGGAACA	0.348													C|||	5	0.000998403	0.0	0.0	5008	,	,		16114	0.003		0.0	False		,,,				2504	0.002					dbGAP											2	Substitution - Missense(2)	breast(2)											75.0	73.0	74.0					7																	12373131		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.4718G>A	7.37:g.12373131C>T	ENSP00000275358:p.Arg1573His		B7ZM77|Q96SQ3	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EGF-like,pfscan_EG-like_dom	p.R1573H	ENST00000275358.3	37	c.4718	CCDS47544.1	7	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232868	0.58777	.	.	ENSG00000146530	ENST00000275358	T	0.42513	0.97	4.23	1.4	0.22301	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.123680	0.56097	N	0.000038	T	0.32556	0.0833	L	0.51914	1.62	0.23449	N	0.99766	B	0.20550	0.046	B	0.15484	0.013	T	0.19095	-1.0316	10	0.32370	T	0.25	.	9.0853	0.36577	0.0:0.7566:0.0:0.2434	.	1573	Q8N2E2	VWDE_HUMAN	H	1573	ENSP00000275358:R1573H	ENSP00000275358:R1573H	R	-	2	0	VWDE	12339656	0.361000	0.24972	0.876000	0.34364	0.685000	0.39939	0.708000	0.25719	0.176000	0.19873	0.591000	0.81541	CGC	VWDE	-	smart_EGF-like	ENSG00000146530		0.348	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	81	0.00	0	C	XM_371878		12373131	12373131	-1	no_errors	ENST00000275358	ensembl	human	novel	69_37n	missense	49	33.33	25	SNP	0.862	T
ZFP36L1	677	genome.wustl.edu	37	14	69256739	69256741	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	GAT	GAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr14:69256739_69256741delGAT	ENST00000439696.2	-	2	827_829	c.526_528delATC	c.(526-528)atcdel	p.I176del	ZFP36L1_ENST00000336440.3_In_Frame_Del_p.I176del|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	176					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I176delI(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGCGTTGTGGATGAAGTGGCAG	0.665											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.526_528delATC	14.37:g.69256739_69256741delGAT	ENSP00000388402:p.Ile176del	1113	Q13851	In_Frame_Del	DEL	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.I176in_frame_del	ENST00000439696.2	37	c.528_526	CCDS9791.1	14																																																																																			ZFP36L1	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000185650		0.665	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	43	0.00	0	GAT			69256739	69256741	-1	no_errors	ENST00000336440	ensembl	human	known	69_37n	in_frame_del	27	32.50	13	DEL	1.000:1.000:1.000	-
ZIC4	84107	genome.wustl.edu	37	3	147114016	147114016	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr3:147114016G>A	ENST00000383075.3	-	3	823	c.311C>T	c.(310-312)aCg>aTg	p.T104M	ZIC4_ENST00000425731.3_Missense_Mutation_p.T142M|ZIC4_ENST00000484399.1_Missense_Mutation_p.T104M|ZIC4_ENST00000473123.1_Missense_Mutation_p.T104M|ZIC4_ENST00000525172.2_Missense_Mutation_p.T154M|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	104						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T104M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGTTCACCGTCAGGTTCAT	0.701																																						dbGAP											1	Substitution - Missense(1)	breast(1)											21.0	26.0	24.0					3																	147114016		2184	4286	6470	-	-	-	SO:0001583	missense	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.311C>T	3.37:g.147114016G>A	ENSP00000372553:p.Thr104Met		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T154M	ENST00000383075.3	37	c.461	CCDS43160.1	3	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578455	0.65878	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	4.98	4.01	0.46588	.	0.142314	0.31897	N	0.006888	T	0.21590	0.0520	N	0.08118	0	0.80722	D	1	D;D	0.65815	0.995;0.982	P;P	0.51170	0.661;0.512	T	0.01920	-1.1247	10	0.33141	T	0.24	.	10.2594	0.43416	0.0:0.0:0.5414:0.4586	.	154;104	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	M	104;142;154;104;104;104	ENSP00000372553:T104M;ENSP00000397695:T142M;ENSP00000435509:T154M;ENSP00000417855:T104M;ENSP00000420775:T104M;ENSP00000420627:T104M	ENSP00000372553:T104M	T	-	2	0	ZIC4	148596706	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.522000	0.60539	2.299000	0.77371	0.561000	0.74099	ACG	ZIC4	-	NULL	ENSG00000174963		0.701	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1	25	0.00	0	G			147114016	147114016	-1	no_errors	ENST00000525172	ensembl	human	known	69_37n	missense	16	38.46	10	SNP	1.000	A
ZMIZ2	83637	genome.wustl.edu	37	7	44802938	44802938	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr7:44802938G>A	ENST00000309315.4	+	13	1909	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.V596M|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.V538M|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.V564M|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.V570M	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	596					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.V596M(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCTATCAAGGTGTCCCTGAA	0.592																																					NSCLC(20;604 852 1948 16908 50522)	dbGAP											1	Substitution - Missense(1)	breast(1)											103.0	115.0	111.0					7																	44802938		2187	4297	6484	-	-	-	SO:0001583	missense	0			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1786G>A	7.37:g.44802938G>A	ENSP00000311778:p.Val596Met		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.V596M	ENST00000309315.4	37	c.1786	CCDS43576.1	7	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763569	0.89932	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	4.82	4.82	0.62117	Zinc finger, MIZ-type (2);	0.230472	0.28414	N	0.015440	D	0.90689	0.7079	L	0.58354	1.805	0.80722	D	1	B;P;P	0.37158	0.232;0.585;0.53	P;P;P	0.57548	0.643;0.823;0.729	D	0.90249	0.4292	10	0.51188	T	0.08	-13.2257	17.7538	0.88442	0.0:0.0:1.0:0.0	.	570;596;538	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	M	538;596;596;564;570;599	ENSP00000409648:V538M;ENSP00000311778:V596M;ENSP00000414723:V596M;ENSP00000396601:V564M;ENSP00000265346:V570M	ENSP00000265346:V570M	V	+	1	0	ZMIZ2	44769463	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.129000	0.94430	2.521000	0.84997	0.555000	0.69702	GTG	ZMIZ2	-	pfam_Znf_MIZ,pfscan_Znf_MIZ	ENSG00000122515		0.592	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ2	HGNC	protein_coding	OTTHUMT00000341790.1	65	0.00	0	G	NM_031449		44802938	44802938	+1	no_errors	ENST00000309315	ensembl	human	known	69_37n	missense	54	24.66	18	SNP	1.000	A
ZNF618	114991	genome.wustl.edu	37	9	116794996	116794996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0T4-01A-31D-A099-09	TCGA-A2-A0T4-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f1b1fda-4956-498a-b8ff-e98b5d64e509	ab57a14c-8ada-4971-8cbd-22a455256bd4	g.chr9:116794996C>T	ENST00000374126.5	+	12	1255	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	ZNF618_ENST00000288466.7_Nonsense_Mutation_p.Q293*|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q386*(1)|p.Q293*(1)|p.Q303*(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAGCAGTTCGCAGAACTCCAG	0.592																																						dbGAP											3	Substitution - Nonsense(3)	breast(3)											102.0	112.0	109.0					9																	116794996		2057	4177	6234	-	-	-	SO:0001587	stop_gained	0			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1156C>T	9.37:g.116794996C>T	ENSP00000363241:p.Gln386*		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Nonsense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q386*	ENST00000374126.5	37	c.1156		9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462020	0.84425	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	.	.	.	5.57	5.57	0.84162	.	0.122853	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.111	18.5351	0.91008	0.0:1.0:0.0:0.0	.	.	.	.	X	386;293;302;373	.	ENSP00000288466:Q293X	Q	+	1	0	ZNF618	115834817	1.000000	0.71417	0.988000	0.46212	0.752000	0.42762	6.905000	0.75714	2.619000	0.88677	0.561000	0.74099	CAG	ZNF618	-	NULL	ENSG00000157657		0.592	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	82	0.00	0	C	XM_054983		116794996	116794996	+1	no_errors	ENST00000374126	ensembl	human	known	69_37n	nonsense	56	16.42	11	SNP	1.000	T
