#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_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Invalid:failed_liftOver	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								8066	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A		3214	2.05	68		NA	NA	NA	8066	157	79.04	645		Silent	SNP	PatternScan_COX2,HMMPfam_COX2,superfamily_Cupredoxins,HMMPfam_COX2_TM,superfamily_Cytochrome^^_^^c^^_^^oxidase^^_^^subunit^^_^^II-like^^_^^transmembrane^^_^^region	p.L160		37	c.480		MT																																																																																			-	PatternScan_COX2,HMMPfam_COX2,superfamily_Cupredoxins	0	0					MT-CO2			G			8066	+1	no_errors	ENST00000361739	ensembl	human	known	54_36p	silent	SNP	NULL	A
EEF1A1P15	643563	genome.wustl.edu	37	X	97644716	97644716	+	IGR	SNP	C	C	T			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chrX:97644716C>T								DIAPH2-AS1 (747128 upstream) : AL109750.1 (995476 downstream)																							ATTGATATCTCCCCATGGAAA	0.423																																						dbGAP											0			X																																								97531372	SO:0001628	intergenic_variant	0																															X.37:g.97644716C>T		87	0.00	0		NA	NA	NA	97531372	25	76.32	87		Missense_Mutation	SNP	HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.S70F		37	c.209		X																																																																																			-	HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases	0	0.423					LOC643563			C			97531372	+1	no_errors	XM_926863.1	genbank	human	model	54_36p	missense	SNP	1.000	T
CNTNAP5	129684	genome.wustl.edu	37	2	125175092	125175092	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr2:125175092G>T	ENST00000431078.1	+	4	818	c.454G>T	c.(454-456)Gtt>Ttt	p.V152F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	152	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCCCGATTTGTTCGCTTTGT	0.498																																						dbGAP											0			2											96.0	100.0	99.0					2																	125175092		1990	4172	6162	124891562	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.454G>T	2.37:g.125175092G>T	ENSP00000399013:p.Val152Phe	170	0.00	0		NA	NA	NA	124891562	154	45.80	131	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_LamG,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen_a/b/g_C,HMMPfam_EGF,HMMSmart_EGF,superfamily_Gal_bind_like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2	p.V152F	ENST00000431078.1	37	c.454	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504125	0.64410	.	.	ENSG00000155052	ENST00000431078	D	0.98585	-5.01	6.17	-6.25	0.02039	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.767069	0.11093	N	0.600490	D	0.96898	0.8987	M	0.81179	2.53	0.36647	D	0.877152	P	0.35363	0.497	B	0.39503	0.301	D	0.91528	0.5240	10	0.87932	D	0	.	9.7379	0.40399	0.4913:0.3858:0.1229:0.0	.	152	Q8WYK1	CNTP5_HUMAN	F	152	ENSP00000399013:V152F	ENSP00000399013:V152F	V	+	1	0	CNTNAP5	124891562	0.005000	0.15991	0.001000	0.08648	0.952000	0.60782	0.076000	0.14712	-1.035000	0.03291	0.655000	0.94253	GTT	-	HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	G			124891562	+1	no_errors	NM_130773.2	genbank	human	reviewed	54_36p	missense	SNP	0.957	T
ITPR3	3710	genome.wustl.edu	37	6	33638467	33638467	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr6:33638467G>A	ENST00000374316.5	+	21	3521	c.2461G>A	c.(2461-2463)Gcg>Acg	p.A821T	ITPR3_ENST00000605930.1_Missense_Mutation_p.A821T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	821					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.A821T(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CAACCTCAACGCGTCCCGAGA	0.582																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)	6											136.0	110.0	119.0					6																	33638467		2203	4300	6503	33746445	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2461G>A	6.37:g.33638467G>A	ENSP00000363435:p.Ala821Thr	28	3.45	1		6	0.00	0	33746445	34	24.44	11	Q14649|Q5TAQ2	Missense_Mutation	SNP	HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR,HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_MIR,superfamily_SSF100909	p.A821T	ENST00000374316.5	37	c.2461	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599315	0.13939	.	.	ENSG00000096433	ENST00000374316	D	0.91996	-2.95	4.69	3.81	0.43845	.	0.195319	0.42682	D	0.000680	T	0.65544	0.2701	N	0.12887	0.27	0.25315	N	0.989164	B	0.12630	0.006	B	0.06405	0.002	T	0.55147	-0.8186	10	0.11794	T	0.64	-19.569	7.7251	0.28755	0.2562:0.0:0.7438:0.0	.	821	Q14573	ITPR3_HUMAN	T	821	ENSP00000363435:A821T	ENSP00000363435:A821T	A	+	1	0	ITPR3	33746445	0.986000	0.35501	0.916000	0.36221	0.739000	0.42172	4.351000	0.59398	0.964000	0.38108	0.462000	0.41574	GCG	-	NULL		0.582	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	protein_coding	OTTHUMT00000040204.2	G	NM_002224		33746445	+1	no_errors	NM_002224.2	genbank	human	validated	54_36p	missense	SNP	0.921	A
DNAH11	8701	genome.wustl.edu	37	7	21784673	21784673	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr7:21784673G>T	ENST00000409508.3	+	51	8533	c.8502G>T	c.(8500-8502)atG>atT	p.M2834I	DNAH11_ENST00000328843.6_Missense_Mutation_p.M2841I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2841	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGATGCCATGCAACATGTGT	0.398									Kartagener syndrome																													dbGAP											0			7											79.0	74.0	76.0					7																	21784673		1954	4168	6122	21751198	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8502G>T	7.37:g.21784673G>T	ENSP00000475939:p.Met2834Ile	82	0.00	0		NA	NA	NA	21751198	111	15.15	20	Q9UJ82	Missense_Mutation	SNP	PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.M2841I	ENST00000409508.3	37	c.8523		7	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509297	0.27036	.	.	ENSG00000105877	ENST00000328843	T	0.36157	1.27	5.4	5.4	0.78164	Dynein heavy chain, P-loop containing D4 domain (1);	0.169822	0.64402	D	0.000007	T	0.26376	0.0644	.	.	.	0.47547	D	0.999455	B	0.22851	0.076	B	0.26517	0.07	T	0.06862	-1.0803	9	0.18276	T	0.48	.	13.1485	0.59477	0.0774:0.0:0.9226:0.0	.	2841	Q96DT5	DYH11_HUMAN	I	2841	ENSP00000330671:M2841I	ENSP00000330671:M2841I	M	+	3	0	DNAH11	21751198	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	4.357000	0.59436	2.538000	0.85594	0.655000	0.94253	ATG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21751198	+1	no_errors	ENST00000328843	ensembl	human	known	54_36p	missense	SNP	1.000	T
CLCN1	1180	genome.wustl.edu	37	7	143029829	143029829	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr7:143029829G>A	ENST00000343257.2	+	12	1351	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	422					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E422K(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GATGCCCCGCGAAGCCATCAG	0.517																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)	7											168.0	160.0	163.0					7																	143029829		2203	4300	6503	142739951	SO:0001583	missense	0			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1264G>A	7.37:g.143029829G>A	ENSP00000339867:p.Glu422Lys	220	0.90	2		NA	NA	NA	142739951	107	34.34	57	A4D2H5|Q2M202	Missense_Mutation	SNP	HMMPfam_CBS,HMMPfam_Voltage_CLC,superfamily_Clc chloride channel,superfamily_CBS-domain	p.E422K	ENST00000343257.2	37	c.1264	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786463	0.90367	.	.	ENSG00000188037	ENST00000343257	D	0.93659	-3.26	5.36	5.36	0.76844	Chloride channel, core (2);	0.097447	0.64402	D	0.000001	D	0.96457	0.8844	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96407	0.9301	10	0.62326	D	0.03	.	19.4395	0.94813	0.0:0.0:1.0:0.0	.	422	P35523	CLCN1_HUMAN	K	422	ENSP00000339867:E422K	ENSP00000339867:E422K	E	+	1	0	CLCN1	142739951	1.000000	0.71417	0.961000	0.40146	0.497000	0.33675	9.804000	0.99143	2.683000	0.91414	0.643000	0.83706	GAA	-	HMMPfam_Voltage_CLC,superfamily_Clc chloride channel		0.517	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	protein_coding	OTTHUMT00000327420.1	G	NM_000083		142739951	+1	no_errors	NM_000083.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CCDC180	100499483	genome.wustl.edu	37	9	100077177	100077177	+	Silent	SNP	T	T	C			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr9:100077177T>C	ENST00000357054.1	+	22	2228	c.1293T>C	c.(1291-1293)acT>acC	p.T431T	CCDC180_ENST00000529487.1_Silent_p.T292T|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Silent_p.T431T|CCDC180_ENST00000411667.2_Silent_p.T289T|CCDC180_ENST00000375202.2_Silent_p.T292T			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	431						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TAGAGAAAACTTCCTACCTCA	0.468																																						dbGAP											0			9											98.0	93.0	95.0					9																	100077177		2203	4300	6503	99116998	SO:0001819	synonymous_variant	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1293T>C	9.37:g.100077177T>C		40	0.00	0		7	0.00	0	99116998	37	9.76	4	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	NULL	p.T431	ENST00000357054.1	37	c.1293		9																																																																																			-	NULL		0.468	CCDC180-201	KNOWN	basic	protein_coding	KIAA1529	protein_coding		T	NM_020893		99116998	+1	no_errors	NM_020893.1	genbank	human	predicted	54_36p	silent	SNP	0.170	C
RAP1B	5908	genome.wustl.edu	37	12	69042539	69042539	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr12:69042539G>A	ENST00000250559.9	+	2	266	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E|RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000378985.3_Intron	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	12					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CTTGGCTCAGGAGGCGTTGGA	0.363																																						dbGAP											0			12											106.0	87.0	94.0					12																	69042539		2203	4300	6503	67328806	SO:0001583	missense	0				CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.35G>A	12.37:g.69042539G>A	ENSP00000250559:p.Gly12Glu	90	0.00	0		50	40.48	34	67328806	55	23.29	17	B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12E	ENST00000250559.9	37	c.35	CCDS8984.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.389856	0.95988	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000422358;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000545270;ENST00000542018;ENST00000534899;ENST00000453560;ENST00000540209;ENST00000540781;ENST00000539091;ENST00000542145;ENST00000485252;ENST00000456697;ENST00000538877;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-0.51;-1.14;-1.14;-1.14;-1.14;-0.51;-1.14;-0.51;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.97110	1.0;0.931;1.0;1.0	D	0.91315	0.5077	9	.	.	.	.	19.9349	0.97133	0.0:0.0:1.0:0.0	.	12;12;12;12	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	E	12	ENSP00000250559:G12E;ENSP00000377085:G12E;ENSP00000401095:G12E;ENSP00000390972:G12E;ENSP00000445138:G12E;ENSP00000444786:G12E;ENSP00000441275:G12E;ENSP00000439966:G12E;ENSP00000399986:G12E;ENSP00000437415:G12E;ENSP00000438088:G12E;ENSP00000441952:G12E;ENSP00000444060:G12E;ENSP00000446318:G12E;ENSP00000440466:G12E;ENSP00000444830:G12E;ENSP00000440014:G12E;ENSP00000444924:G12E;ENSP00000440635:G12E;ENSP00000440708:G12E;ENSP00000438311:G12E;ENSP00000443851:G12E	.	G	+	2	0	RAP1B	67328806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GGA	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.363	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1B	protein_coding	OTTHUMT00000257821.3	G	NM_001010942		67328806	+1	no_errors	NM_001010942.1	genbank	human	validated	54_36p	missense	SNP	1.000	A
PKD1L2	114780	genome.wustl.edu	37	16	81190547	81190547	+	RNA	SNP	C	C	T			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr16:81190547C>T	ENST00000525539.1	-	0	4041				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACGGTGGTCACGACCACAGGG	0.572																																						dbGAP											0			16											62.0	66.0	65.0					16																	81190547		2170	4269	6439	79748048			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81190547C>T		76	1.27	1		NA	NA	NA	79748048	27	40.00	18	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_SM00303,PatternScan_CHANNEL_COLICIN,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel,superfamily_C-type lectin-like	p.V1348M	ENST00000525539.1	37	c.4042		16																																																																																			-	NULL		0.572	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	polymorphic_pseudogene	OTTHUMT00000387972.2	C			79748048	-1	no_errors	ENST00000299598	ensembl	human	known	54_36p	missense	SNP	1.000	T
C17orf97	400566	genome.wustl.edu	37	17	263017	263017	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr17:263017G>C	ENST00000360127.6	+	2	399	c.383G>C	c.(382-384)cGt>cCt	p.R128P	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	128										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TGCAAAGAGCGTGGCCCGAAA	0.512																																						dbGAP											0			17											130.0	117.0	121.0					17																	263017		2203	4300	6503	263333	SO:0001583	missense	0			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.383G>C	17.37:g.263017G>C	ENSP00000353245:p.Arg128Pro	57	1.69	1		5	16.67	1	263333	50	39.02	32	A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	NULL	p.R128P	ENST00000360127.6	37	c.383	CCDS32519.2	17	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504770	0.44558	.	.	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.48201	1.4;0.82	5.02	-3.6	0.04570	.	0.931283	0.08893	N	0.878365	T	0.23171	0.0560	N	0.14661	0.345	0.21445	N	0.999689	B	0.18013	0.025	B	0.16289	0.015	T	0.16394	-1.0404	10	0.45353	T	0.12	-21.7712	2.0789	0.03631	0.2495:0.4287:0.1818:0.1399	.	128	Q6ZQX7-4	.	P	128;122	ENSP00000353245:R128P;ENSP00000419482:R122P	ENSP00000353245:R128P	R	+	2	0	C17orf97	263333	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	-0.424000	0.07025	-0.443000	0.07180	-0.302000	0.09304	CGT	-	NULL		0.512	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf97	protein_coding	OTTHUMT00000255648.4	G	NM_001013672		263333	+1	no_errors	NM_001013672.3	genbank	human	validated	54_36p	missense	SNP	0.000	C
MYO5B	4645	genome.wustl.edu	37	18	47369719	47369719	+	Silent	SNP	G	G	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr18:47369719G>A	ENST00000285039.7	-	34	4802	c.4503C>T	c.(4501-4503)ccC>ccT	p.P1501P	MYO5B_ENST00000324581.6_Silent_p.P616P|MYO5B_ENST00000592688.1_Silent_p.P71P|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1501					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGATGTAGGCGGGGAGACAGG	0.557																																						dbGAP											0			18											83.0	84.0	83.0					18																	47369719		2069	4205	6274	45623717	SO:0001819	synonymous_variant	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4503C>T	18.37:g.47369719G>A		59	0.00	0		NA	NA	NA	45623717	67	38.53	42	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.P1501	ENST00000285039.7	37	c.4503	CCDS42436.1	18																																																																																			-	NULL		0.557	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	G			45623717	-1	no_errors	NM_001080467.1	genbank	human	provisional	54_36p	silent	SNP	0.634	A
JAK3	3718	genome.wustl.edu	37	19	17949108	17949108	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr19:17949108C>T	ENST00000527670.1	-	10	1562	c.1533G>A	c.(1531-1533)atG>atA	p.M511I	JAK3_ENST00000534444.1_Missense_Mutation_p.M511I|JAK3_ENST00000458235.1_Missense_Mutation_p.M511I|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	511					B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.M511I(4)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGTGAAATGTCATCTGACTCA	0.552		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	dbGAP		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(4)	19											243.0	228.0	233.0					19																	17949108		2203	4300	6503	17810108	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1533G>A	19.37:g.17949108C>T	ENSP00000432511:p.Met511Ile	108	0.00	0		229	18.51	52	17810108	72	14.12	12	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00252,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMSmart_SM00295,superfamily_SH2 domain	p.M511I	ENST00000527670.1	37	c.1533	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987714	0.35036	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.61274	0.12;0.12;0.12	4.65	4.65	0.58169	Protein kinase-like domain (1);	0.110832	0.64402	D	0.000015	T	0.51517	0.1679	L	0.48877	1.53	0.37776	D	0.926842	B;B	0.27732	0.187;0.02	B;B	0.26864	0.074;0.004	T	0.57441	-0.7811	10	0.45353	T	0.12	-18.6683	15.0314	0.71710	0.0:1.0:0.0:0.0	.	511;511	P52333-2;P52333	.;JAK3_HUMAN	I	511	ENSP00000391676:M511I;ENSP00000432511:M511I;ENSP00000436421:M511I	ENSP00000413248:M511I	M	-	3	0	JAK3	17810108	1.000000	0.71417	0.955000	0.39395	0.434000	0.31775	3.116000	0.50399	2.141000	0.66446	0.313000	0.20887	ATG	-	superfamily_Protein kinase-like (PK-like),superfamily_SH2 domain		0.552	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	protein_coding	OTTHUMT00000385549.1	C	NM_000215		17810108	-1	no_errors	NM_000215.3	genbank	human	reviewed	54_36p	missense	SNP	0.993	T
TSKS	60385	genome.wustl.edu	37	19	50243431	50243431	+	Missense_Mutation	SNP	G	G	A	rs368573101		TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr19:50243431G>A	ENST00000246801.3	-	10	1589	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C	TSKS_ENST00000358830.3_Missense_Mutation_p.R303C	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	503					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AAGGCCTGGCGCTCCAGCTCC	0.662																																						dbGAP											0			19						G	CYS/ARG	0,4406		0,0,2203	37.0	40.0	39.0		1507	3.8	1.0	19		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSKS	NM_021733.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	503/593	50243431	1,13005	2203	4300	6503	54935243	SO:0001583	missense	0			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1507C>T	19.37:g.50243431G>A	ENSP00000246801:p.Arg503Cys	87	0.00	0		9	10.00	1	54935243	82	10.75	10	Q8WXJ0	Missense_Mutation	SNP	NULL	p.R503C	ENST00000246801.3	37	c.1507	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359745	0.61403	0.0	1.16E-4	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.36699	1.24;1.24	4.81	3.77	0.43336	.	0.263284	0.27345	N	0.019797	T	0.23171	0.0560	N	0.24115	0.695	0.44711	D	0.997703	B	0.28512	0.214	B	0.23852	0.049	T	0.08534	-1.0717	10	0.87932	D	0	-6.5782	8.8817	0.35378	0.1015:0.0:0.8985:0.0	.	503	Q9UJT2	TSKS_HUMAN	C	503;303	ENSP00000246801:R503C;ENSP00000351691:R303C	ENSP00000246801:R503C	R	-	1	0	TSKS	54935243	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.687000	0.61708	1.248000	0.43934	-0.192000	0.12808	CGC	-	NULL		0.662	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	protein_coding	OTTHUMT00000465795.1	G	NM_021733		54935243	-1	no_errors	NM_021733.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PI4KA	5297	genome.wustl.edu	37	22	21107281	21107281	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr22:21107281C>A	ENST00000572273.1	-	25	2953	c.2723G>T	c.(2722-2724)cGg>cTg	p.R908L	PI4KA_ENST00000466162.1_5'Flank|PI4KA_ENST00000255882.6_Missense_Mutation_p.R966L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	908					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGAGCGTGCCGCTCCAGCTC	0.522																																					GBM(136;1332 1831 3115 23601 50806)	dbGAP											0			22											141.0	127.0	132.0					22																	21107281		2203	4300	6503	19437281	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2723G>T	22.37:g.21107281C>A	ENSP00000458238:p.Arg908Leu	58	0.00	0		72	43.41	56	19437281	70	33.64	37	Q7Z625|Q9UPG2	Missense_Mutation	SNP	HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2	p.R908L	ENST00000572273.1	37	c.2723		22	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795843	0.70452	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	L	0.29908	0.895	0.80722	D	1	B	0.25007	0.116	B	0.30105	0.111	T	0.47971	-0.9075	9	0.25751	T	0.34	-25.5307	18.5699	0.91132	0.0:1.0:0.0:0.0	.	908	P42356	PI4KA_HUMAN	L	908	.	ENSP00000255882:R908L	R	-	2	0	PI4KA	19437281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.560000	0.82277	2.640000	0.89533	0.655000	0.94253	CGG	-	NULL		0.522	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	protein_coding		C	NM_058004		19437281	-1	no_errors	NM_058004.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GIGYF2	26058	genome.wustl.edu	37	2	233681680	233681681	+	Frame_Shift_Ins	INS	-	-	GGCT	rs149585458		TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	-	-	-	GGCT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr2:233681680_233681681insGGCT	ENST00000409547.1	+	22	2619_2620	c.2308_2309insGGCT	c.(2308-2310)cggfs	p.-770fs	GIGYF2_ENST00000373566.3_Frame_Shift_Ins_p.-792fs|GIGYF2_ENST00000452341.2_Frame_Shift_Ins_p.-601fs|GIGYF2_ENST00000409480.1_Frame_Shift_Ins_p.-792fs|GIGYF2_ENST00000409451.3_Frame_Shift_Ins_p.-791fs|GIGYF2_ENST00000373563.4_Frame_Shift_Ins_p.-770fs|GIGYF2_ENST00000409196.3_Frame_Shift_Ins_p.-764fs	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGAAATTCTTCGGCGACAGCAG	0.49																																						dbGAP											0			2																																								233389925	SO:0001589	frameshift_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	Exception_encountered	2.37:g.233681680_233681681insGGCT	ENSP00000386537:p.Arg770fs	NA	NA	NA		NA	NA	NA	233389924	NA	NA	NA	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Frame_Shift_Ins	INS	HMMPfam_GYF,HMMSmart_GYF,superfamily_GYF	p.R792fs	ENST00000409547.1	37	c.2371_2372	CCDS33401.1	2																																																																																			-	NULL		0.490	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	protein_coding	OTTHUMT00000330316.2	-	NM_001103146		233389925	+1	no_errors	NM_001103147.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.997:1.000	GGCT
PLXND1	23129	genome.wustl.edu	37	3	129303234	129303235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr3:129303234_129303235insG	ENST00000324093.4	-	6	2200_2201	c.2022_2023insC	c.(2020-2025)cccaacfs	p.N675fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.N675fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	675					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TTACCCTGGTTGGGGGGGAAGG	0.639																																					Ovarian(97;366 1484 3738 22084 39045)	dbGAP											0			3																																								130785925	SO:0001589	frameshift_variant	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2023dupC	3.37:g.129303241_129303241dupG	ENSP00000317128:p.Asn675fs	23	0.00	0		259	0.00	0	130785924	60	10.45	7	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat	p.N674fs	ENST00000324093.4	37	c.2023_2022	CCDS33854.1	3																																																																																			-	NULL		0.639	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	protein_coding	OTTHUMT00000356132.4	-	NM_015103		130785925	-1	no_errors	NM_015103.2	genbank	human	validated	54_36p	frame_shift_ins	INS	0.280:0.287	G
RAD21	5885	genome.wustl.edu	37	8	117864298	117864298	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr8:117864298delC	ENST00000297338.2	-	11	1646	c.1359delG	c.(1357-1359)gagfs	p.E453fs	RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000518055.1_5'UTR|RAD21_ENST00000523986.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	453					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCATCACTGACTCCTGGAGGC	0.463																																						dbGAP											0			8											79.0	72.0	74.0					8																	117864298		2203	4300	6503	117933479	SO:0001589	frameshift_variant	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1359delG	8.37:g.117864298delC	ENSP00000297338:p.Glu453fs	79	1.23	1		22	0.00	0	117933479	64	41.44	46	A8K0E0|Q15001|Q99568	Frame_Shift_Del	DEL	HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N	p.E453fs	ENST00000297338.2	37	c.1359	CCDS6321.1	8																																																																																			-	NULL		0.463	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	protein_coding	OTTHUMT00000381184.1	C	NM_006265		117933479	-1	no_errors	NM_006265.2	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.960	-
