#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
ADCY4	196883	genome.wustl.edu	37	14	24800227	24800228	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr14:24800227_24800228insAC	ENST00000310677.4	-	7	1039_1040	c.926_927insGT	c.(925-927)gccfs	p.A309fs	ADCY4_ENST00000396747.3_Frame_Shift_Ins_p.P45fs|ADCY4_ENST00000554068.2_Frame_Shift_Ins_p.A309fs|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000418030.2_Frame_Shift_Ins_p.A309fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	309					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTCTGACCTTGGCAATCTGGTC	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.926_927insGT	14.37:g.24800227_24800228insAC	ENSP00000312126:p.Ala309fs		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Ins	INS	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K310fs	ENST00000310677.4	37	c.927_926	CCDS9627.1	14																																																																																			ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000129467		0.569	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	42	0.00	0	-			24800227	24800228	-1	no_errors	ENST00000310677	ensembl	human	known	69_37n	frame_shift_ins	20	98.42	1249	INS	0.998:1.000	AC
ANGPTL7	10218	genome.wustl.edu	37	1	11254592	11254592	+	Silent	SNP	C	C	T			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr1:11254592C>T	ENST00000376819.3	+	4	986	c.747C>T	c.(745-747)ctC>ctT	p.L249L	ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	249	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCTATCGCCTCTTCCTGGGGA	0.527																																						dbGAP											0													179.0	158.0	165.0					1																	11254592		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.747C>T	1.37:g.11254592C>T			B2R9B2|F1T0A6|Q4ZGK4	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L249	ENST00000376819.3	37	c.747	CCDS128.1	1																																																																																			ANGPTL7	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000171819		0.527	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL7	HGNC	protein_coding	OTTHUMT00000005564.1	119	0.00	0	C	NM_021146		11254592	11254592	+1	no_errors	ENST00000376819	ensembl	human	known	69_37n	silent	96	32.39	46	SNP	1.000	T
C10orf120	399814	genome.wustl.edu	37	10	124457723	124457723	+	Silent	SNP	T	T	A			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr10:124457723T>A	ENST00000329446.4	-	3	565	c.534A>T	c.(532-534)ggA>ggT	p.G178G		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	178										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCTGATGATTTCCCAGAGCCC	0.507																																						dbGAP											0													149.0	135.0	139.0					10																	124457723		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.534A>T	10.37:g.124457723T>A			B2RU17	Silent	SNP	NULL	p.G178	ENST00000329446.4	37	c.534	CCDS31302.1	10																																																																																			C10orf120	-	NULL	ENSG00000183559		0.507	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	HGNC	protein_coding	OTTHUMT00000050803.1	212	0.00	0	T	NM_001010912		124457723	124457723	-1	no_errors	ENST00000329446	ensembl	human	known	69_37n	silent	143	30.48	64	SNP	0.000	A
C12orf56	115749	genome.wustl.edu	37	12	64746720	64746720	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr12:64746720C>A	ENST00000543942.2	-	2	995	c.369G>T	c.(367-369)agG>agT	p.R123S	snoU13_ENST00000459220.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.R123S|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	123										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ATAGGAATTTCCTGACACTGT	0.328																																						dbGAP											0													103.0	99.0	100.0					12																	64746720		1829	4074	5903	-	-	-	SO:0001583	missense	0				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.369G>T	12.37:g.64746720C>A	ENSP00000446101:p.Arg123Ser			Missense_Mutation	SNP	NULL	p.R123S	ENST00000543942.2	37	c.369		12	.	.	.	.	.	.	.	.	.	.	C	1.234	-0.623178	0.03636	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716;ENST00000543259	.	.	.	4.27	2.43	0.29744	.	0.170357	0.35179	N	0.003397	T	0.29061	0.0722	L	0.41236	1.265	0.23464	N	0.997625	B	0.10296	0.003	B	0.11329	0.006	T	0.15925	-1.0420	8	.	.	.	0.0032	7.0045	0.24828	0.0:0.7878:0.0:0.2122	.	123	Q8IXR9-2	.	S	123;123;123;110	.	.	R	-	3	2	C12orf56	63032987	0.685000	0.27652	0.637000	0.29366	0.003000	0.03518	0.571000	0.23669	0.562000	0.29204	-0.150000	0.13652	AGG	C12orf56	-	NULL	ENSG00000185306		0.328	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2	82	0.00	0	C	NM_001099676		64746720	64746720	-1	no_errors	ENST00000333722	ensembl	human	known	69_37n	missense	115	29.88	49	SNP	0.836	A
CDH1	999	genome.wustl.edu	37	16	68862203	68862204	+	Frame_Shift_Ins	INS	-	-	C	rs61747636	byFrequency	TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr16:68862203_68862204insC	ENST00000261769.5	+	14	2482_2483	c.2291_2292insC	c.(2290-2295)gaccagfs	p.Q765fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.Q704fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	765	Required for binding CTNND1 and PSEN1.				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)			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)		GGAGAAGAGGACCAGGTGGGTT	0.485			"""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	0																																										-	-	-	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.2293dupC	16.37:g.68862205_68862205dupC	ENSP00000261769:p.Gln765fs		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.Q765fs	ENST00000261769.5	37	c.2291_2292	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000039068		0.485	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	122	0.00	0	-	NM_004360		68862203	68862204	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	110	39.56	72	INS	1.000:1.000	C
CIITA	4261	genome.wustl.edu	37	16	10996535	10996535	+	Silent	SNP	T	T	C			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr16:10996535T>C	ENST00000324288.8	+	8	782	c.649T>C	c.(649-651)Ttg>Ctg	p.L217L	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.L168L	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	217					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CAGTTCCTCGTTGAGCTGCCT	0.522			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	dbGAP		Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													145.0	113.0	124.0					16																	10996535		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.649T>C	16.37:g.10996535T>C			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.L217	ENST00000324288.8	37	c.649	CCDS10544.1	16																																																																																			CIITA	-	NULL	ENSG00000179583		0.522	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	118	0.00	0	T	NM_000246		10996535	10996535	+1	no_errors	ENST00000324288	ensembl	human	known	69_37n	silent	77	30.63	34	SNP	0.000	C
COMMD5	28991	genome.wustl.edu	37	8	146076339	146076339	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr8:146076339delC	ENST00000305103.3	-	2	637	c.385delG	c.(385-387)gtgfs	p.V130fs	COMMD5_ENST00000450361.2_Frame_Shift_Del_p.V130fs|AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000402718.3_Frame_Shift_Del_p.V130fs	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	130						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCAAATACCACGCTGGCCAAG	0.662																																						dbGAP											0													13.0	14.0	14.0					8																	146076339		2201	4291	6492	-	-	-	SO:0001589	frameshift_variant	0			AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.385delG	8.37:g.146076339delC	ENSP00000304544:p.Val130fs		D3DWN7|Q9NVN6|Q9UHX5	Frame_Shift_Del	DEL	pfam_HCaRG	p.V129fs	ENST00000305103.3	37	c.385	CCDS6436.1	8																																																																																			COMMD5	-	pfam_HCaRG	ENSG00000170619		0.662	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	COMMD5	HGNC	protein_coding	OTTHUMT00000382962.1	9	0.00	0	C	NM_014066		146076339	146076339	-1	no_errors	ENST00000450361	ensembl	human	known	69_37n	frame_shift_del	5	40.00	4	DEL	0.720	-
DOCK3	1795	genome.wustl.edu	37	3	51417603	51417604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr3:51417603_51417604insC	ENST00000266037.9	+	52	5571_5572	c.5548_5549insC	c.(5548-5550)accfs	p.T1850fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P1852fs*45(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTGGGTGATACCCCCCCAGCC	0.594																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5555dupC	3.37:g.51417610_51417610dupC	ENSP00000266037:p.Thr1850fs		O15017	Frame_Shift_Ins	INS	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.A1853fs	ENST00000266037.9	37	c.5548_5549	CCDS46835.1	3																																																																																			DOCK3	-	NULL	ENSG00000088538		0.594	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	16	0.00	0	-	NM_004947		51417603	51417604	+1	no_errors	ENST00000266037	ensembl	human	known	69_37n	frame_shift_ins	3	40.00	2	INS	0.453:0.115	C
ESR2	2100	genome.wustl.edu	37	14	64727440	64727440	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr14:64727440G>A	ENST00000341099.4	-	5	1096	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.R227C|ESR2_ENST00000553796.1_Missense_Mutation_p.R227C|ESR2_ENST00000357782.2_Missense_Mutation_p.R227C|ESR2_ENST00000557772.1_Missense_Mutation_p.R227C|ESR2_ENST00000554572.1_Missense_Mutation_p.R227C|ESR2_ENST00000555278.1_Missense_Mutation_p.R227C|ESR2_ENST00000267525.6_Missense_Mutation_p.R227C|ESR2_ENST00000353772.3_Missense_Mutation_p.R227C|ESR2_ENST00000542956.1_Missense_Mutation_p.R227C	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	227	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CGCACAAGGCGGTACCCACAT	0.582																																						dbGAP											0													29.0	30.0	29.0					14																	64727440		2202	4292	6494	-	-	-	SO:0001583	missense	0			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.679C>T	14.37:g.64727440G>A	ENSP00000343925:p.Arg227Cys		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.R227C	ENST00000341099.4	37	c.679	CCDS9762.1	14	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850316	0.71719	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.92099	-2.95;-2.9;-2.89;-2.89;-2.89;-2.97;-2.96;-2.97;-2.96;-2.81;-2.54	5.53	5.53	0.82687	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.414867	0.28748	N	0.014261	D	0.97228	0.9094	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;P	0.83275	0.996;0.985;0.921;0.99;0.726	D	0.97679	1.0171	10	0.87932	D	0	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	227;227;227;227;227	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	C	227	ENSP00000452485:R227C;ENSP00000441792:R227C;ENSP00000450699:R227C;ENSP00000335551:R227C;ENSP00000351412:R227C;ENSP00000450488:R227C;ENSP00000452426:R227C;ENSP00000350427:R227C;ENSP00000451582:R227C;ENSP00000343925:R227C;ENSP00000267525:R227C	ENSP00000267525:R227C	R	-	1	0	ESR2	63797193	1.000000	0.71417	0.989000	0.46669	0.268000	0.26511	4.538000	0.60650	2.763000	0.94921	0.563000	0.77884	CGC	ESR2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000140009		0.582	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	HGNC	protein_coding	OTTHUMT00000280621.1	64	0.00	0	G			64727440	64727440	-1	no_errors	ENST00000341099	ensembl	human	known	69_37n	missense	52	26.76	19	SNP	1.000	A
FAM129A	116496	genome.wustl.edu	37	1	184853799	184853799	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr1:184853799delA	ENST00000367511.3	-	5	762	c.569delT	c.(568-570)ctcfs	p.L191fs		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	191					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTCACTCAGGAGGGCACTAAA	0.602																																						dbGAP											0													93.0	85.0	88.0					1																	184853799		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.569delT	1.37:g.184853799delA	ENSP00000356481:p.Leu191fs		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Frame_Shift_Del	DEL	NULL	p.L190fs	ENST00000367511.3	37	c.569	CCDS1364.1	1																																																																																			FAM129A	-	NULL	ENSG00000135842		0.602	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	104	0.00	0	A			184853799	184853799	-1	no_errors	ENST00000367511	ensembl	human	known	69_37n	frame_shift_del	146	41.64	117	DEL	0.063	-
IRF3	3661	genome.wustl.edu	37	19	50165439	50165439	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr19:50165439delT	ENST00000597198.1	-	6	1129	c.748delA	c.(748-750)atgfs	p.M250fs	IRF3_ENST00000309877.7_Frame_Shift_Del_p.M250fs|IRF3_ENST00000600911.1_Frame_Shift_Del_p.M250fs|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Frame_Shift_Del_p.M250fs|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000377139.3_Frame_Shift_Del_p.M250fs|IRF3_ENST00000593922.1_Frame_Shift_Del_p.M104fs|IRF3_ENST00000598808.1_Frame_Shift_Del_p.M104fs|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000599144.1_Frame_Shift_Del_p.M104fs			Q14653	IRF3_HUMAN	interferon regulatory factor 3	250	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GTCAGGGACATGCCAGGGTCT	0.677																																						dbGAP											0													48.0	49.0	48.0					19																	50165439		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.748delA	19.37:g.50165439delT	ENSP00000469113:p.Met250fs		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Frame_Shift_Del	DEL	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.M250fs	ENST00000597198.1	37	c.748	CCDS12775.1	19																																																																																			IRF3	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000126456		0.677	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	HGNC	protein_coding	OTTHUMT00000465962.1	65	0.00	0	T	NM_001571		50165439	50165439	-1	no_errors	ENST00000309877	ensembl	human	known	69_37n	frame_shift_del	47	44.05	37	DEL	0.000	-
IRF3	3661	genome.wustl.edu	37	19	50165449	50165449	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr19:50165449delT	ENST00000597198.1	-	6	1119	c.738delA	c.(736-738)ccafs	p.P246fs	IRF3_ENST00000309877.7_Frame_Shift_Del_p.P246fs|IRF3_ENST00000600911.1_Frame_Shift_Del_p.P246fs|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Frame_Shift_Del_p.P246fs|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000377139.3_Frame_Shift_Del_p.P246fs|IRF3_ENST00000593922.1_Frame_Shift_Del_p.P100fs|IRF3_ENST00000598808.1_Frame_Shift_Del_p.P100fs|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000599144.1_Frame_Shift_Del_p.P100fs			Q14653	IRF3_HUMAN	interferon regulatory factor 3	246	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGCCAGGGTCTGGCAGTGTGA	0.662																																						dbGAP											0													48.0	49.0	48.0					19																	50165449		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.738delA	19.37:g.50165449delT	ENSP00000469113:p.Pro246fs		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Frame_Shift_Del	DEL	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.D247fs	ENST00000597198.1	37	c.738	CCDS12775.1	19																																																																																			IRF3	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000126456		0.662	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	HGNC	protein_coding	OTTHUMT00000465962.1	63	0.00	0	T	NM_001571		50165449	50165449	-1	no_errors	ENST00000309877	ensembl	human	known	69_37n	frame_shift_del	44	45.68	37	DEL	0.945	-
IRF3	3661	genome.wustl.edu	37	19	50165454	50165455	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr19:50165454_50165455delGT	ENST00000597198.1	-	6	1113_1114	c.732_733delAC	c.(730-735)acactgfs	p.L245fs	IRF3_ENST00000309877.7_Frame_Shift_Del_p.L245fs|IRF3_ENST00000600911.1_Frame_Shift_Del_p.L245fs|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Frame_Shift_Del_p.L245fs|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000377139.3_Frame_Shift_Del_p.L245fs|IRF3_ENST00000593922.1_Frame_Shift_Del_p.L99fs|IRF3_ENST00000598808.1_Frame_Shift_Del_p.L99fs|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000599144.1_Frame_Shift_Del_p.L99fs			Q14653	IRF3_HUMAN	interferon regulatory factor 3	245	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GGGTCTGGCAGTGTGACTGGCC	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.732_733delAC	19.37:g.50165456_50165457delGT	ENSP00000469113:p.Leu245fs		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Frame_Shift_Del	DEL	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.L245fs	ENST00000597198.1	37	c.733_732	CCDS12775.1	19																																																																																			IRF3	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000126456		0.673	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	HGNC	protein_coding	OTTHUMT00000465962.1	61	0.00	0	GT	NM_001571		50165454	50165455	-1	no_errors	ENST00000309877	ensembl	human	known	69_37n	frame_shift_del	45	45.12	37	DEL	0.918:0.003	-
ITGA11	22801	genome.wustl.edu	37	15	68624257	68624257	+	Silent	SNP	G	G	A			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr15:68624257G>A	ENST00000315757.7	-	14	1796	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	ITGA11_ENST00000423218.2_Silent_p.H570H	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	570					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TGGCTCCTGCGTGGTTGTCCT	0.582																																						dbGAP											0													57.0	56.0	56.0					15																	68624257		1989	4155	6144	-	-	-	SO:0001819	synonymous_variant	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1710C>T	15.37:g.68624257G>A			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.H570	ENST00000315757.7	37	c.1710	CCDS45291.1	15																																																																																			ITGA11	-	pfam_FG-GAP,smart_Int_alpha_beta-p	ENSG00000137809		0.582	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		38	0.00	0	G	NM_012211		68624257	68624257	-1	no_errors	ENST00000315757	ensembl	human	known	69_37n	silent	68	31.31	31	SNP	0.985	A
LPAR4	2846	genome.wustl.edu	37	X	78011420	78011420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chrX:78011420G>T	ENST00000435339.3	+	2	1440	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	352					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATTCAAGAGGAAGTGAGTGA	0.408																																						dbGAP											0													104.0	96.0	98.0					X																	78011420		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.1054G>T	X.37:g.78011420G>T	ENSP00000408205:p.Glu352*		B2RAC7|O15132|Q502U9|Q6NSP5	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2Y5_purnocptor,prints_P2_purnocptor	p.E352*	ENST00000435339.3	37	c.1054	CCDS14441.1	X	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861741	0.91433	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	.	.	.	4.47	4.47	0.54385	.	0.285523	0.28952	N	0.013606	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	14.8497	0.70286	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000362398:E352X	E	+	1	0	LPAR4	77898076	1.000000	0.71417	0.975000	0.42487	0.047000	0.14425	8.372000	0.90127	2.058000	0.61347	0.422000	0.28245	GAA	LPAR4	-	NULL	ENSG00000147145		0.408	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR4	HGNC	protein_coding	OTTHUMT00000057322.2	331	0.00	0	G	NM_005296		78011420	78011420	+1	no_errors	ENST00000373301	ensembl	human	known	69_37n	nonsense	242	15.38	44	SNP	1.000	T
LSS	4047	genome.wustl.edu	37	21	47626622	47626623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr21:47626622_47626623insC	ENST00000397728.3	-	16	1605_1606	c.1527_1528insG	c.(1525-1530)gggcacfs	p.H510fs	LSS_ENST00000356396.4_Frame_Shift_Ins_p.H510fs|LSS_ENST00000522411.1_Frame_Shift_Ins_p.H499fs|LSS_ENST00000457828.2_Frame_Shift_Ins_p.H430fs	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	510					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGCT	0.599																																					Pancreas(114;955 2313 34923 50507)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1528dupG	21.37:g.47626628_47626628dupC	ENSP00000380837:p.His510fs		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Frame_Shift_Ins	INS	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.H509fs	ENST00000397728.3	37	c.1528_1527	CCDS13733.1	21																																																																																			LSS	-	superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	ENSG00000160285		0.599	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	28	0.00	0	-			47626622	47626623	-1	no_errors	ENST00000356396	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.000:0.000	C
MAN2C1	4123	genome.wustl.edu	37	15	75649184	75649184	+	Silent	SNP	G	G	A			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr15:75649184G>A	ENST00000267978.5	-	22	2653	c.2607C>T	c.(2605-2607)aaC>aaT	p.N869N	RP11-817O13.6_ENST00000563660.1_lincRNA|MAN2C1_ENST00000565683.1_Silent_p.N886N|MAN2C1_ENST00000569482.1_Silent_p.N869N|MAN2C1_ENST00000563622.1_Silent_p.N770N	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	869					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						ACTTGCAGTCGTTGAGCAGGG	0.622																																						dbGAP											0													93.0	78.0	83.0					15																	75649184		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2607C>T	15.37:g.75649184G>A			H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.N869	ENST00000267978.5	37	c.2607	CCDS32298.1	15																																																																																			MAN2C1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000140400		0.622	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	36	0.00	0	G			75649184	75649184	-1	no_errors	ENST00000267978	ensembl	human	known	69_37n	silent	21	27.59	8	SNP	0.978	A
MBD1	4152	genome.wustl.edu	37	18	47796443	47796443	+	3'UTR	SNP	G	G	C			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr18:47796443G>C	ENST00000591416.1	-	0	3677				MBD1_ENST00000353909.3_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000269468.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.Q531E|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000585672.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TACTGGGGTTGGGTGGTTGGT	0.413																																						dbGAP											0													130.0	126.0	127.0					18																	47796443		876	1991	2867	-	-	-	SO:0001624	3_prime_UTR_variant	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.*1428C>G	18.37:g.47796443G>C			A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.Q531E	ENST00000591416.1	37	c.1591	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298890	0.23650	.	.	ENSG00000141644	ENST00000339998	D	0.95238	-3.65	3.73	1.38	0.22167	.	.	.	.	.	D	0.89722	0.6797	.	.	.	0.09310	N	1	B	0.24721	0.11	B	0.24848	0.056	T	0.82012	-0.0668	8	0.87932	D	0	.	5.1766	0.15139	0.3524:0.0:0.6476:0.0	.	531	Q9UIS9-6	.	E	531	ENSP00000339546:Q531E	ENSP00000339546:Q531E	Q	-	1	0	MBD1	46050441	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.171000	0.09883	0.307000	0.22880	0.563000	0.77884	CAA	MBD1	-	NULL	ENSG00000141644		0.413	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	257	0.00	0	G	NM_015846		47796443	47796443	-1	no_errors	ENST00000339998	ensembl	human	known	69_37n	missense	107	29.14	44	SNP	0.001	C
NHSL2	340527	genome.wustl.edu	37	X	71359816	71359816	+	Silent	SNP	C	C	T			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chrX:71359816C>T	ENST00000373677.1	+	2	2582	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	NHSL2_ENST00000510661.1_Silent_p.G575G|NHSL2_ENST00000535692.1_Silent_p.G440G|NHSL2_ENST00000540800.1_Silent_p.G806G			Q5HYW2	NHSL2_HUMAN	NHS-like 2	440										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAAATTTTGGCGTCAAGCTGG	0.512																																						dbGAP											0													89.0	74.0	80.0					X																	71359816		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1320C>T	X.37:g.71359816C>T			B2RN94	Silent	SNP	NULL	p.G806	ENST00000373677.1	37	c.2418		X																																																																																			NHSL2	-	NULL	ENSG00000204131		0.512	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	84	0.00	0	C	NM_001013627		71359816	71359816	+1	no_errors	ENST00000540800	ensembl	human	known	69_37n	silent	44	31.25	20	SNP	0.005	T
OSCP1	127700	genome.wustl.edu	37	1	36887790	36887790	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr1:36887790A>C	ENST00000356637.5	-	8	873	c.810T>G	c.(808-810)caT>caG	p.H270Q	OSCP1_ENST00000433045.2_Missense_Mutation_p.H215Q|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000315643.9_Missense_Mutation_p.H270Q|OSCP1_ENST00000235532.5_Missense_Mutation_p.H260Q			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	270					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						ATCCAGACACATGAGTTTCCA	0.483																																						dbGAP											0													243.0	181.0	202.0					1																	36887790		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.810T>G	1.37:g.36887790A>C	ENSP00000349052:p.His270Gln		A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	pfam_OSCP1	p.H260Q	ENST00000356637.5	37	c.780		1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.400399	0.42613	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643	T;T;T;T;T	0.30714	2.05;2.06;1.65;1.52;2.03	5.65	-8.72	0.00845	.	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	M	0.72479	2.2	0.41464	D	0.988066	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.33085	-0.9882	10	0.15499	T	0.54	.	13.9883	0.64350	0.1502:0.2092:0.6406:0.0	.	260;270	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	Q	260;270;215;230;270	ENSP00000235532:H260Q;ENSP00000349052:H270Q;ENSP00000390820:H215Q;ENSP00000396417:H230Q;ENSP00000314541:H270Q	ENSP00000235532:H260Q	H	-	3	2	OSCP1	36660377	0.007000	0.16637	0.100000	0.21137	0.973000	0.67179	-1.168000	0.03123	-1.882000	0.01122	0.528000	0.53228	CAT	OSCP1	-	NULL	ENSG00000116885		0.483	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	OSCP1	HGNC	protein_coding	OTTHUMT00000389759.1	64	0.00	0	A	NM_145047		36887790	36887790	-1	no_errors	ENST00000235532	ensembl	human	known	69_37n	missense	97	26.52	35	SNP	0.882	C
OR2L2	26246	genome.wustl.edu	37	1	248202361	248202361	+	Silent	SNP	G	G	A			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr1:248202361G>A	ENST00000366479.2	+	1	888	c.792G>A	c.(790-792)ctG>ctA	p.L264L	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAAGATCCCTGCGATCTCCAA	0.493																																						dbGAP											0													139.0	125.0	130.0					1																	248202361		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.792G>A	1.37:g.248202361G>A			Q2M3T5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L264	ENST00000366479.2	37	c.792	CCDS31103.1	1																																																																																			OR2L2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000203663		0.493	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	HGNC	protein_coding	OTTHUMT00000096871.1	441	0.00	0	G	NM_001004686		248202361	248202361	+1	no_errors	ENST00000366479	ensembl	human	known	69_37n	silent	254	32.72	124	SNP	0.000	A
PLEKHG4B	153478	genome.wustl.edu	37	5	163330	163331	+	Frame_Shift_Del	DEL	CC	CC	-	rs199841555		TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr5:163330_163331delCC	ENST00000283426.6	+	11	2125_2126	c.2075_2076delCC	c.(2074-2076)gccfs	p.A692fs		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	692							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGGCAGGGGCCACCACGGCCC	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2075_2076delCC	5.37:g.163330_163331delCC	ENSP00000283426:p.Ala692fs			Frame_Shift_Del	DEL	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A692fs	ENST00000283426.6	37	c.2075_2076	CCDS34124.1	5																																																																																			PLEKHG4B	-	NULL	ENSG00000153404		0.653	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	14	0.00	0	CC	NM_052909		163330	163331	+1	no_errors	ENST00000283426	ensembl	human	known	69_37n	frame_shift_del	11	46.88	15	DEL	0.036:0.030	-
PLXDC1	57125	genome.wustl.edu	37	17	37235707	37235707	+	Intron	DEL	G	G	-			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr17:37235707delG	ENST00000315392.4	-	10	1201				PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|AC091178.1_ENST00000410562.1_RNA|PLXDC1_ENST00000444911.2_Intron|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1						angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGTCGCCTTGACTCTGAGCT	0.547																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.990-290C>-	17.37:g.37235707delG			B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	RNA	DEL	-	NULL	ENST00000315392.4	37	NULL	CCDS11333.1	17																																																																																			PLXDC1	-	-	ENSG00000161381		0.547	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	8	0.00	0	G	NM_020405		37235707	37235707	-1	no_errors	ENST00000493200	ensembl	human	known	69_37n	rna	6	63.16	12	DEL	0.002	-
PXDN	7837	genome.wustl.edu	37	2	1653225	1653226	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr2:1653225_1653226insG	ENST00000252804.4	-	17	2376_2377	c.2326_2327insC	c.(2326-2328)aacfs	p.N776fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	776					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCGAGGGGTGTTGAAGCCATTC	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2326_2327insC	2.37:g.1653225_1653226insG	ENSP00000252804:p.Asn776fs		A8QM65|D6W4Y0|Q4KMG2	Frame_Shift_Ins	INS	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.N776fs	ENST00000252804.4	37	c.2327_2326	CCDS46221.1	2																																																																																			PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.649	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	63	0.00	0	-	XM_056455		1653225	1653226	-1	no_errors	ENST00000252804	ensembl	human	known	69_37n	frame_shift_ins	28	75.44	86	INS	1.000:1.000	G
SLC6A17	388662	genome.wustl.edu	37	1	110740813	110740815	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr1:110740813_110740815delTCT	ENST00000331565.4	+	12	2416_2418	c.1931_1933delTCT	c.(1930-1935)ctctct>cct	p.644_645LS>P		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	644					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TTCCACCTGCTCTCTGATGGCTC	0.586																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1931_1933delTCT	1.37:g.110740813_110740815delTCT	ENSP00000330199:p.Leu644_Ser645delinsPro		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	In_Frame_Del	DEL	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.LS644in_frame_delP	ENST00000331565.4	37	c.1931_1933	CCDS30799.1	1																																																																																			SLC6A17	-	pfscan_Na/ntran_symport	ENSG00000197106		0.586	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	40	0.00	0	TCT	XM_371280		110740813	110740815	+1	no_errors	ENST00000331565	ensembl	human	known	69_37n	in_frame_del	24	36.84	14	DEL	0.999:0.774:0.915	-
SLK	9748	genome.wustl.edu	37	10	105727649	105727650	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr10:105727649_105727650insT	ENST00000369755.3	+	1	691_692	c.146_147insT	c.(145-150)tacaagfs	p.K50fs	SLK_ENST00000335753.4_Frame_Shift_Ins_p.K50fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.Y49*(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGAAAGTGTACAAGGTAAGAG	0.53																																					NSCLC(111;540 1651 1927 4474 17706)	dbGAP											1	Substitution - Nonsense(1)	NS(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	Exception_encountered	10.37:g.105727649_105727650insT	ENSP00000358770:p.Lys50fs		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Frame_Shift_Ins	INS	pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom	p.K50fs	ENST00000369755.3	37	c.146_147	CCDS7553.1	10																																																																																			SLK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065613		0.530	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	71	0.00	0	-	NM_014720		105727649	105727650	+1	no_errors	ENST00000369755	ensembl	human	known	69_37n	frame_shift_ins	15	53.12	17	INS	1.000:1.000	T
TBX3	6926	genome.wustl.edu	37	12	115118894	115118895	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr12:115118894_115118895insT	ENST00000257566.3	-	2	835_836	c.446_447insA	c.(445-447)tacfs	p.Y149fs	TBX3_ENST00000349155.2_Frame_Shift_Ins_p.Y149fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	149			Y -> S (in UMS). {ECO:0000269|PubMed:10330342}.		anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TCAATAAAATGTATTTGGCTTT	0.386																																						dbGAP											0			GRCh37	CM994610	TBX3	M																																				-	-	-	SO:0001589	frameshift_variant	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.447dupA	12.37:g.115118895_115118895dupT	ENSP00000257566:p.Tyr149fs		Q8TB20|Q9UKF8	Frame_Shift_Ins	INS	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.Y149fs	ENST00000257566.3	37	c.447_446	CCDS9176.1	12																																																																																			TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.386	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	325	0.00	0	-	NM_016569, NM_005996		115118894	115118895	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	frame_shift_ins	93	31.11	42	INS	0.891:1.000	T
THSD7B	80731	genome.wustl.edu	37	2	137814797	137814797	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr2:137814797T>C	ENST00000409968.1	+	3	1125	c.947T>C	c.(946-948)tTa>tCa	p.L316S	THSD7B_ENST00000272643.3_Missense_Mutation_p.L316S|THSD7B_ENST00000413152.2_Missense_Mutation_p.L285S|THSD7B_ENST00000543459.1_Missense_Mutation_p.L175S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	316						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATGCTATGTTAAGGTAGGAG	0.358																																						dbGAP											0													20.0	19.0	20.0					2																	137814797		1844	4080	5924	-	-	-	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.947T>C	2.37:g.137814797T>C	ENSP00000387145:p.Leu316Ser			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L316S	ENST00000409968.1	37	c.947		2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016122	0.75161	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.25579	2.27;2.19;1.8;1.79	5.41	5.41	0.78517	.	0.278953	0.34338	N	0.004048	T	0.47060	0.1425	M	0.80746	2.51	0.80722	D	1	D;D	0.59357	0.964;0.985	P;P	0.62014	0.897;0.897	T	0.48703	-0.9012	10	0.09084	T	0.74	.	15.4474	0.75240	0.0:0.0:0.0:1.0	.	316;285	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	316;316;285;175	ENSP00000387145:L316S;ENSP00000272643:L316S;ENSP00000413841:L285S;ENSP00000443370:L175S	ENSP00000272643:L316S	L	+	2	0	THSD7B	137531267	1.000000	0.71417	0.930000	0.37139	0.921000	0.55340	6.040000	0.70980	2.193000	0.70182	0.472000	0.43445	TTA	THSD7B	-	NULL	ENSG00000144229		0.358	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	160	0.00	0	T	XM_046570.9		137814797	137814797	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	missense	44	30.16	19	SNP	1.000	C
TLN2	83660	genome.wustl.edu	37	15	63029121	63029121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr15:63029121C>T	ENST00000561311.1	+	28	3633	c.3403C>T	c.(3403-3405)Cag>Tag	p.Q1135*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.Q1135*|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1135	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AACACTGGCCCAGGCCGCCCG	0.572																																						dbGAP											0													32.0	36.0	35.0					15																	63029121		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3403C>T	15.37:g.63029121C>T	ENSP00000453508:p.Gln1135*		A6NLB8	Nonsense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.Q1135*	ENST00000561311.1	37	c.3403	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.587482	0.96590	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0914	19.2437	0.93893	0.0:1.0:0.0:0.0	.	.	.	.	X	1135	.	ENSP00000303476:Q1135X	Q	+	1	0	TLN2	60816413	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.999000	0.70665	2.545000	0.85829	0.591000	0.81541	CAG	TLN2	-	superfamily_Vinculin/catenin	ENSG00000171914		0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	48	0.00	0	C			63029121	63029121	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	nonsense	43	64.46	78	SNP	1.000	T
TNK1	8711	genome.wustl.edu	37	17	7291812	7291812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr17:7291812delG	ENST00000576812.1	+	11	1949	c.1580delG	c.(1579-1581)agafs	p.R527fs	TNK1_ENST00000570896.1_Frame_Shift_Del_p.R522fs|TNK1_ENST00000311668.2_Frame_Shift_Del_p.R522fs	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CGACAAGCCAGAGCTGTGCCC	0.627																																						dbGAP											0													45.0	56.0	53.0					17																	7291812		2025	4174	6199	-	-	-	SO:0001589	frameshift_variant	0			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1580delG	17.37:g.7291812delG	ENSP00000459799:p.Arg527fs			Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R527fs	ENST00000576812.1	37	c.1580	CCDS58510.1	17																																																																																			TNK1	-	NULL	ENSG00000174292		0.627	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TNK1	HGNC	protein_coding	OTTHUMT00000440832.2	70	0.00	0	G	NM_003985		7291812	7291812	+1	no_errors	ENST00000576812	ensembl	human	known	69_37n	frame_shift_del	7	50.00	7	DEL	1.000	-
TTC21B	79809	genome.wustl.edu	37	2	166786867	166786867	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr2:166786867C>T	ENST00000243344.7	-	9	1039	c.902G>A	c.(901-903)cGt>cAt	p.R301H		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	301					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AAGTTGACTACGTCCACACTA	0.279																																						dbGAP											0													42.0	43.0	42.0					2																	166786867		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.902G>A	2.37:g.166786867C>T	ENSP00000243344:p.Arg301His		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R301H	ENST00000243344.7	37	c.902	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028547	0.93518	.	.	ENSG00000123607	ENST00000243344	T	0.51325	0.71	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77686	-0.2495	10	0.51188	T	0.08	-12.4693	18.5115	0.90918	0.0:1.0:0.0:0.0	.	301;301	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	H	301	ENSP00000243344:R301H	ENSP00000243344:R301H	R	-	2	0	TTC21B	166495113	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.358000	0.79466	2.441000	0.82636	0.557000	0.71058	CGT	TTC21B	-	NULL	ENSG00000123607		0.279	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	146	0.00	0	C	NM_024753		166786867	166786867	-1	no_errors	ENST00000243344	ensembl	human	known	69_37n	missense	97	29.20	40	SNP	1.000	T
UGGT1	56886	genome.wustl.edu	37	2	128884987	128884987	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr2:128884987A>G	ENST00000259253.6	+	12	1234	c.1187A>G	c.(1186-1188)aAt>aGt	p.N396S	UGGT1_ENST00000375990.3_Missense_Mutation_p.N372S	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	396					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCTTCATCAATGGACTTCAC	0.328																																						dbGAP											0													86.0	88.0	87.0					2																	128884987		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1187A>G	2.37:g.128884987A>G	ENSP00000259253:p.Asn396Ser		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.N396S	ENST00000259253.6	37	c.1187	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560233	0.86335	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.55413	0.52;0.52	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.85372	0.1114	10	0.87932	D	0	.	15.3134	0.74053	1.0:0.0:0.0:0.0	.	372;396	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	S	372;396	ENSP00000365158:N372S;ENSP00000259253:N396S	ENSP00000259253:N396S	N	+	2	0	UGGT1	128601457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.608000	0.90895	2.103000	0.63969	0.533000	0.62120	AAT	UGGT1	-	NULL	ENSG00000136731		0.328	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	69	0.00	0	A	NM_020120		128884987	128884987	+1	no_errors	ENST00000259253	ensembl	human	known	69_37n	missense	49	39.51	32	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179434772	179434772	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr2:179434772G>A	ENST00000591111.1	-	276	71388	c.71164C>T	c.(71164-71166)Cgc>Tgc	p.R23722C	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16490C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16423C|TTN_ENST00000460472.2_Missense_Mutation_p.R16298C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25363C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22795C			Q8WZ42	TITIN_HUMAN	titin	23722	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R16490C(2)|p.R22793C(2)|p.R16298C(2)|p.R16423C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTCAGGCGCAACTCTCCA	0.433																																						dbGAP											7	Substitution - Missense(7)	large_intestine(7)											109.0	102.0	104.0					2																	179434772		1946	4143	6089	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71164C>T	2.37:g.179434772G>A	ENSP00000465570:p.Arg23722Cys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R22795C	ENST00000591111.1	37	c.68383		2	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195572	0.38806	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.02	5.14	0.70334	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76615	0.4012	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.966;0.966;0.966;0.95	T	0.80636	-0.1294	9	0.87932	D	0	.	16.9005	0.86112	0.0:0.0:0.8712:0.1288	.	16298;16423;16490;23722	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22795;16298;16490;16423;16296	ENSP00000343764:R22795C;ENSP00000434586:R16298C;ENSP00000340554:R16490C;ENSP00000352154:R16423C	ENSP00000340554:R16490C	R	-	1	0	TTN	179143018	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.766000	0.62279	1.522000	0.49001	0.650000	0.86243	CGC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	138	0.00	0	G	NM_133378		179434772	179434772	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	92	34.75	49	SNP	1.000	A
WNK2	65268	genome.wustl.edu	37	9	96080102	96080102	+	Intron	DEL	A	A	-			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr9:96080102delA	ENST00000297954.4	+	30	6739				WNK2_ENST00000395477.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2						intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGTGGTCAGCATGCCTGGCCC	0.692																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6740-53A>-	9.37:g.96080102delA			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Del	DEL	pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom	p.H1764fs	ENST00000297954.4	37	c.5291		9																																																																																			WNK2	-	NULL	ENSG00000165238		0.692	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	16	0.00	0	A	NM_006648		96080102	96080102	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000411624	ensembl	human	putative	69_37n	frame_shift_del	8	69.23	18	DEL	0.000	-
WNK2	65268	genome.wustl.edu	37	9	96080105	96080106	+	Intron	INS	-	-	A			TCGA-A8-A0A4-01A-11W-A019-09	TCGA-A8-A0A4-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fc4d542-86ac-42bc-9fbb-272c23e6aa72	db493df5-6038-4dc3-8bc7-eab44d4d9dcb	g.chr9:96080105_96080106insA	ENST00000297954.4	+	30	6739				WNK2_ENST00000395477.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2						intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGTCAGCATGCCTGGCCCCCGG	0.683																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6740-49->A	9.37:g.96080105_96080106insA			Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Ins	INS	pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom	p.W1766fs	ENST00000297954.4	37	c.5294_5295		9																																																																																			WNK2	-	NULL	ENSG00000165238		0.683	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	16	0.00	0	-	NM_006648		96080105	96080106	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000411624	ensembl	human	putative	69_37n	frame_shift_ins	7	72.00	18	INS	0.001:0.004	A
