#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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	A	A	C			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	A	A	A	C	A	A	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chrUnknown:0A>C								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								15014	SO:0001628	intergenic_variant	0																															Unknown.37:g.0A>C		Somatic	4750	0.33	16		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	15014	1675	59.88	2564		Missense_Mutation	SNP	HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C,superfamily_Transmembr_di-haem_cytochrome	p.M89I		37	c.267		MT																																																																																			-	HMMPfam_Cytochrom_B_N,superfamily_Transmembr_di-haem_cytochrome	0	0					MT-CYB			A			15014	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361789	ensembl	human	known	54_36p	missense	SNP	NULL	C
PLEKHG5	57449	genome.wustl.edu	37	1	6531119	6531119	+	Silent	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr1:6531119C>T	ENST00000400915.3	-	14	1557	c.1491G>A	c.(1489-1491)gaG>gaA	p.E497E	PLEKHG5_ENST00000377732.1_Silent_p.E478E|PLEKHG5_ENST00000377748.1_Silent_p.E518E|PLEKHG5_ENST00000377728.3_Silent_p.E441E|PLEKHG5_ENST00000377737.2_Silent_p.E441E|PLEKHG5_ENST00000377725.1_Silent_p.E441E|PLEKHG5_ENST00000544978.1_Silent_p.E441E|PLEKHG5_ENST00000340850.5_Silent_p.E441E|PLEKHG5_ENST00000400913.1_Silent_p.E441E|PLEKHG5_ENST00000535355.1_Silent_p.E510E|PLEKHG5_ENST00000537245.1_Silent_p.E520E|PLEKHG5_ENST00000377740.3_Silent_p.E518E	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	497	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCCTCCTCCTCCATGCAGT	0.711																																						dbGAP											0			1											25.0	23.0	23.0					1																	6531119		2201	4295	6496	6453706	SO:0001819	synonymous_variant	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1491G>A	1.37:g.6531119C>T		Somatic	15	0.00	0		1	75.00	3	WXS	Illumina HiSeq	Phase_IV	6453706	11	56.00	14	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729	p.E518	ENST00000400915.3	37	c.1554	CCDS41241.1	1																																																																																			-	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain		0.711	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	protein_coding	OTTHUMT00000002631.1	C	NM_020631		6453706	-1	no_errors	NM_198681.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
KCNN3	3782	genome.wustl.edu	37	1	154744661	154744661	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr1:154744661A>T	ENST00000271915.4	-	3	1553	c.1238T>A	c.(1237-1239)cTg>cAg	p.L413Q	KCNN3_ENST00000361147.4_Missense_Mutation_p.L108Q|KCNN3_ENST00000358505.2_Missense_Mutation_p.L100Q	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	418					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GTACAGGCGCAGGAACATGGG	0.602																																						dbGAP											0			1											105.0	88.0	93.0					1																	154744661		2203	4300	6503	153011285	SO:0001583	missense	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1238T>A	1.37:g.154744661A>T	ENSP00000271915:p.Leu413Gln	Somatic	53	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	153011285	75	35.34	41	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	HMMPfam_CaMBD,superfamily_Small-conductance potassium channel,HMMPfam_SK_channel,HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels	p.L413Q	ENST00000271915.4	37	c.1238	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546921	0.86022	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.41400	1.0;1.0;1.0	4.87	4.87	0.63330	.	0.000000	0.42964	D	0.000625	T	0.61261	0.2333	M	0.85197	2.74	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.998;0.97	D;D;D	0.87578	0.998;0.995;0.955	T	0.69599	-0.5102	10	0.87932	D	0	-12.1188	14.3052	0.66380	1.0:0.0:0.0:0.0	.	419;418;108	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	Q	108;413;100	ENSP00000354764:L108Q;ENSP00000271915:L413Q;ENSP00000351295:L100Q	ENSP00000271915:L413Q	L	-	2	0	KCNN3	153011285	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.135000	0.94478	2.041000	0.60428	0.459000	0.35465	CTG	-	superfamily_Voltage-gated potassium channels		0.602	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	protein_coding	OTTHUMT00000090688.3	A	NM_002249		153011285	-1	no_errors	NM_002249.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
C4BPB	725	genome.wustl.edu	37	1	207263773	207263773	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr1:207263773C>T	ENST00000243611.5	+	2	473	c.179C>T	c.(178-180)aCc>aTc	p.T60I	C4BPB_ENST00000451804.2_Missense_Mutation_p.T50I|C4BPB_ENST00000391923.1_Missense_Mutation_p.T60I|C4BPB_ENST00000367076.3_Missense_Mutation_p.T59I|C4BPB_ENST00000367078.3_Missense_Mutation_p.T60I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	60	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						GGAAAGAAGACCCTTTTTTGC	0.448																																						dbGAP											0			1											141.0	126.0	131.0					1																	207263773		2203	4300	6503	205330396	SO:0001583	missense	0			L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.179C>T	1.37:g.207263773C>T	ENSP00000243611:p.Thr60Ile	Somatic	150	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	205330396	149	40.00	100	A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain	p.T60I	ENST00000243611.5	37	c.179	CCDS1476.1	1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287926	0.23478	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.29	-0.424	0.12321	Complement control module (2);Sushi/SCR/CCP (3);	1.439940	0.04182	N	0.326764	T	0.50871	0.1641	N	0.25245	0.725	0.09310	N	1	P;P;B;B	0.43885	0.82;0.692;0.44;0.386	B;B;B;B	0.44224	0.444;0.202;0.12;0.073	T	0.38866	-0.9641	10	0.23891	T	0.37	-2.1125	1.6405	0.02751	0.2797:0.4151:0.1369:0.1683	.	50;50;60;59	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	I	60;60;60;59;60;50	ENSP00000356045:T60I;ENSP00000392237:T60I;ENSP00000243611:T60I;ENSP00000356043:T59I;ENSP00000375790:T60I;ENSP00000405649:T50I	ENSP00000243611:T60I	T	+	2	0	C4BPB	205330396	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.667000	0.05274	0.024000	0.15214	-0.188000	0.12872	ACC	-	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain		0.448	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C4BPB	protein_coding	OTTHUMT00000087847.2	C	NM_000716		205330396	+1	no_errors	NM_000716.3	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
OR2AJ1	127608	genome.wustl.edu	37	1	248097651	248097651	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr1:248097651G>T	ENST00000318244.3	+	1	581	c.581G>T	c.(580-582)cGc>cTc	p.R194L	OR2L13_ENST00000366478.2_5'Flank			Q8NGZ0	O2AJ1_HUMAN	olfactory receptor, family 2, subfamily AJ, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(1)|pancreas(1)	2						GACACAACACGCTATGAACGA	0.473																																						dbGAP											0			1																																								246164274	SO:0001583	missense	0					1q44	2013-03-27	2004-03-04	2004-03-05	ENSG00000177275	ENSG00000177275		"""GPCR / Class A : Olfactory receptors"""	15001	other	unknown			"""olfactory receptor, family 2, subfamily AJ, member 1 pseudogene"""	OR2AJ1P			Standard	NG_004652		Approved	OR2AJ1Q		Q8NGZ0	OTTHUMG00000040206	ENST00000318244.3:c.581G>T	1.37:g.248097651G>T	ENSP00000325078:p.Arg194Leu	Somatic	208	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	246164274	221	34.41	117		Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.R194L	ENST00000318244.3	37	c.581		1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.387477	0.00014	.	.	ENSG00000177275	ENST00000318244	T	0.00018	9.07	3.7	-7.41	0.01392	.	1.831460	0.03740	N	0.254833	T	0.00039	0.0001	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36890	-0.9729	7	0.02654	T	1	.	6.5526	0.22442	0.2074:0.2303:0.4783:0.084	.	.	.	.	L	194	ENSP00000325078:R194L	ENSP00000325078:R194L	R	+	2	0	OR2AJ1	246164274	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.166000	0.00282	-2.692000	0.00403	-1.273000	0.01405	CGC	-	HMMPfam_7tm_1,superfamily_SSF81321		0.473	OR2AJ1-001	KNOWN	basic|appris_principal	protein_coding	OR2AJ1	protein_coding	OTTHUMT00000096863.1	G	NG_004652		246164274	+1	no_errors	ENST00000318244	ensembl	human	known	54_36p	missense	SNP	0.002	T
CAD	790	genome.wustl.edu	37	2	27466086	27466086	+	Silent	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr2:27466086C>T	ENST00000403525.1	+	42	6456	c.6312C>T	c.(6310-6312)ctC>ctT	p.L2104L	CAD_ENST00000264705.4_Silent_p.L2167L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCATCCTCACTCCCCACA	0.562																																						dbGAP											0			2											79.0	72.0	75.0					2																	27466086		2203	4300	6503	27319590	SO:0001819	synonymous_variant	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6312C>T	2.37:g.27466086C>T		Somatic	90	0.00	0		35	61.96	57	WXS	Illumina HiSeq	Phase_IV	27319590	102	37.50	63	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	HMMPfam_GATase,PatternScan_DIHYDROOROTASE_1,PatternScan_DIHYDROOROTASE_2,HMMPfam_CPSase_sm_chain,superfamily_CP_synthsmall,HMMPfam_CPSase_L_D2,PatternScan_CPSASE_1,PatternScan_CPSASE_2,HMMPfam_CPSase_L_D3,superfamily_CarbamoylP_synth_lsu_oligo,HMMPfam_CPSase_L_chain,PatternScan_CARBAMOYLTRANSFERASE,superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace,HMMPfam_OTCace_N,HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,HMMPfam_MGS,superfamily_PreATP-grasp-like,superfamily_SSF51556,superfamily_SSF52317,superfamily_SSF52335,superfamily_SSF56059	p.L2167	ENST00000403525.1	37	c.6501		2	.	.	.	.	.	.	.	.	.	.	C	9.394	1.076321	0.20227	.	.	ENSG00000084774	ENST00000428460	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	T	0.69504	0.3118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67589	-0.5632	4	.	.	.	-12.684	13.7429	0.62857	0.0:0.8458:0.1542:0.0	.	.	.	.	L	235	.	.	S	+	2	0	CAD	27319590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.394000	0.34509	2.590000	0.87494	0.561000	0.74099	TCA	-	superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace		0.562	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	protein_coding	OTTHUMT00000324970.1	C			27319590	+1	no_errors	NM_004341.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
NCKAP5	344148	genome.wustl.edu	37	2	133721301	133721301	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr2:133721301C>T	ENST00000409261.1	-	8	944	c.571G>A	c.(571-573)Gct>Act	p.A191T	NCKAP5_ENST00000405974.3_Missense_Mutation_p.A191T|NCKAP5_ENST00000409213.1_Missense_Mutation_p.A191T|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A191T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	191										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACCTCTAGAGCTTTCAATCTC	0.368																																						dbGAP											0			2											144.0	140.0	141.0					2																	133721301		1844	4099	5943	133437771	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.571G>A	2.37:g.133721301C>T	ENSP00000387128:p.Ala191Thr	Somatic	239	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	133437771	186	29.26	79	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.A191T	ENST00000409261.1	37	c.571	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925494	0.73213	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834	T;T;T;T	0.46063	2.87;0.88;2.87;0.88	5.4	5.4	0.78164	.	.	.	.	.	T	0.47248	0.1435	N	0.14661	0.345	0.27565	N	0.950053	P;P;D	0.60160	0.59;0.93;0.987	B;P;D	0.64595	0.187;0.558;0.927	T	0.45011	-0.9290	9	0.49607	T	0.09	.	16.0277	0.80555	0.0:1.0:0.0:0.0	.	166;191;191	O14513-3;O14513-2;O14513	.;.;NCKP5_HUMAN	T	191;191;191;191;191;166	ENSP00000387128:A191T;ENSP00000386952:A191T;ENSP00000380603:A191T;ENSP00000385692:A191T	ENSP00000380603:A191T	A	-	1	0	NCKAP5	133437771	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	4.976000	0.63785	2.822000	0.97130	0.650000	0.86243	GCT	-	NULL		0.368	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAP5	protein_coding	OTTHUMT00000331663.1	C	NM_207481		133437771	-1	no_errors	NM_207363.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
SNED1	25992	genome.wustl.edu	37	2	242004814	242004814	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr2:242004814T>A	ENST00000310397.8	+	21	2813	c.2813T>A	c.(2812-2814)cTt>cAt	p.L938H	SNED1_ENST00000401884.1_Missense_Mutation_p.L938H|SNED1_ENST00000342631.6_Missense_Mutation_p.L938H|SNED1_ENST00000405547.3_Missense_Mutation_p.L938H|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	938	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGCAGATGCTTGATGGCTAC	0.647																																						dbGAP											0			2											44.0	53.0	50.0					2																	242004814		2048	4173	6221	241653487	SO:0001583	missense	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2813T>A	2.37:g.242004814T>A	ENSP00000308893:p.Leu938His	Somatic	9	0.00	0		1	50.00	1	WXS	Illumina HiSeq	Phase_IV	241653487	23	23.33	7	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMSmart_SM00179,HMMPfam_NIDO,HMMSmart_SM00539,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.L938H	ENST00000310397.8	37	c.2813	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	T	16.50	3.140014	0.56936	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.65	4.65	0.58169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.160830	0.28354	N	0.015656	T	0.56630	0.1998	N	0.24115	0.695	0.37154	D	0.90227	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.62813	0.896;0.905;0.907	T	0.55692	-0.8101	10	0.13470	T	0.59	.	12.6471	0.56742	0.0:0.0:0.0:1.0	.	938;938;938	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	H	938	ENSP00000384871:L938H;ENSP00000386007:L938H;ENSP00000308893:L938H;ENSP00000342992:L938H	ENSP00000308893:L938H	L	+	2	0	SNED1	241653487	1.000000	0.71417	0.891000	0.34965	0.019000	0.09904	6.849000	0.75414	1.744000	0.51775	0.533000	0.62120	CTT	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.647	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	protein_coding	OTTHUMT00000323935.2	T	XM_059482		241653487	+1	no_errors	NM_001080437.1	genbank	human	provisional	54_36p	missense	SNP	0.986	A
KCNH8	131096	genome.wustl.edu	37	3	19498262	19498262	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr3:19498262A>C	ENST00000328405.2	+	11	2094	c.1828A>C	c.(1828-1830)Aaa>Caa	p.K610Q		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	610					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTTCTAGGGAAAGGGGATTT	0.363																																					NSCLC(124;1625 1765 8018 24930 42026)	dbGAP											0			3											84.0	82.0	83.0					3																	19498262		2203	4300	6503	19473266	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1828A>C	3.37:g.19498262A>C	ENSP00000328813:p.Lys610Gln	Somatic	115	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	19473266	125	39.13	81	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMSmart_PAC,HMMPfam_Ion_trans,HMMPfam_PAS,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF55785,superfamily_SSF81324	p.K610Q	ENST00000328405.2	37	c.1828	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477164	0.84640	.	.	ENSG00000183960	ENST00000328405	D	0.92647	-3.08	5.58	5.58	0.84498	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.33075	U	0.005307	D	0.94761	0.8309	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.94306	0.7541	9	.	.	.	.	16.0489	0.80740	1.0:0.0:0.0:0.0	.	610	Q96L42	KCNH8_HUMAN	Q	610	ENSP00000328813:K610Q	.	K	+	1	0	KCNH8	19473266	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.221000	0.95188	2.253000	0.74438	0.455000	0.32223	AAA	-	HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding		0.363	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	protein_coding	OTTHUMT00000252139.2	A	NM_144633		19473266	+1	no_errors	NM_144633.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
NPNT	255743	genome.wustl.edu	37	4	106863541	106863541	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr4:106863541A>T	ENST00000379987.2	+	8	1057	c.841A>T	c.(841-843)Aca>Tca	p.T281S	NPNT_ENST00000305572.8_Missense_Mutation_p.T281S|NPNT_ENST00000427316.2_Missense_Mutation_p.T311S|NPNT_ENST00000453617.2_Missense_Mutation_p.T298S|NPNT_ENST00000514622.1_Missense_Mutation_p.T281S|NPNT_ENST00000506666.1_Missense_Mutation_p.T311S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	281					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AAAGGGTGACACAGGAAATAA	0.393																																						dbGAP											0			4											96.0	88.0	91.0					4																	106863541		2203	4300	6503	107082990	SO:0001583	missense	0				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.841A>T	4.37:g.106863541A>T	ENSP00000369323:p.Thr281Ser	Somatic	166	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	107082990	119	30.23	52	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_MAM,HMMSmart_SM00137,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.T281S	ENST00000379987.2	37	c.841	CCDS34046.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.336|2.336	-0.352275|-0.352275	0.05173|0.05173	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000514837|ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	.|T;T;T;T;T;T;T	.|0.78003	.|-0.74;-1.11;-0.83;-1.14;-0.83;-0.81;0.01	4.85|4.85	4.01|4.01	0.46588|0.46588	.|.	.|0.506479	.|0.22421	.|N	.|0.060289	T|T	0.54743|0.54743	0.1877|0.1877	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B;B;B;B	.|0.15930	.|0.007;0.002;0.002;0.004;0.001;0.015;0.014	.|B;B;B;B;B;B;B	.|0.18561	.|0.004;0.005;0.003;0.013;0.005;0.022;0.005	T|T	0.33599|0.33599	-0.9862|-0.9862	5|10	.|0.08837	.|T	.|0.75	.|.	10.3779|10.3779	0.44092|0.44092	0.1743:0.0:0.8257:0.0|0.1743:0.0:0.8257:0.0	.|.	.|281;311;311;298;328;281;281	.|E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9	.|.;.;.;.;.;.;NPNT_HUMAN	L|S	257|281;298;311;281;281;311;328	.|ENSP00000369323:T281S;ENSP00000402884:T298S;ENSP00000389252:T311S;ENSP00000422044:T281S;ENSP00000302557:T281S;ENSP00000422474:T311S;ENSP00000426146:T328S	.|ENSP00000302557:T281S	H|T	+|+	2|1	0|0	NPNT|NPNT	107082990|107082990	0.742000|0.742000	0.28228|0.28228	0.998000|0.998000	0.56505|0.56505	0.262000|0.262000	0.26303|0.26303	1.631000|1.631000	0.37092|0.37092	1.175000|1.175000	0.42826|0.42826	-0.232000|-0.232000	0.12228|0.12228	CAC|ACA	-	NULL		0.393	NPNT-001	KNOWN	basic|CCDS	protein_coding	NPNT	protein_coding	OTTHUMT00000364083.1	A	NM_198278		107082990	+1	no_errors	NM_001033047.1	genbank	human	validated	54_36p	missense	SNP	0.984	T
PPWD1	23398	genome.wustl.edu	37	5	64875362	64875362	+	Silent	SNP	T	T	G			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr5:64875362T>G	ENST00000261308.5	+	7	1344	c.1272T>G	c.(1270-1272)tcT>tcG	p.S424S	PPWD1_ENST00000535264.1_Silent_p.S394S|PPWD1_ENST00000538977.1_Silent_p.S268S	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	424					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TGAAAGCTTCTGAAAATCCTG	0.348																																						dbGAP											0			5											61.0	63.0	62.0					5																	64875362		2203	4300	6503	64911118	SO:0001819	synonymous_variant	0			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1272T>G	5.37:g.64875362T>G		Somatic	116	0.00	0		55	40.86	38	WXS	Illumina HiSeq	Phase_IV	64911118	112	32.54	55	B4DWR9|Q15002|Q7KZ89	Silent	SNP	HMMSmart_WD40,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_WD40_like,superfamily_CSA_PPIase,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.S424	ENST00000261308.5	37	c.1272	CCDS3985.1	5																																																																																			-	superfamily_WD40_like		0.348	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPWD1	protein_coding	OTTHUMT00000253970.2	T	NM_015342		64911118	+1	no_errors	NM_015342.2	genbank	human	validated	54_36p	silent	SNP	0.994	G
PCDHGA5	56110	genome.wustl.edu	37	5	140745018	140745018	+	Missense_Mutation	SNP	G	G	T	rs553043540	byFrequency	TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr5:140745018G>T	ENST00000518069.1	+	1	1121	c.1121G>T	c.(1120-1122)gGt>gTt	p.G374V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACATGATGGTGATTCTGGA	0.423																																						dbGAP											0			5											102.0	101.0	101.0					5																	140745018		2022	4182	6204	140725202	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1121G>T	5.37:g.140745018G>T	ENSP00000429834:p.Gly374Val	Somatic	80	1.20	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	140725202	31	56.94	41	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.G374V	ENST00000518069.1	37	c.1121	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	1.391	-0.580908	0.03854	.	.	ENSG00000253485	ENST00000518069	T	0.01665	4.7	5.52	-3.14	0.05250	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01421	0.0046	N	0.21373	0.66	0.09310	N	1	B;B	0.23058	0.004;0.079	B;B	0.33121	0.038;0.158	T	0.50224	-0.8853	9	0.66056	D	0.02	.	0.15	0.00092	0.2546:0.2028:0.2485:0.2941	.	374;374	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	V	374	ENSP00000429834:G374V	ENSP00000429834:G374V	G	+	2	0	PCDHGA5	140725202	0.000000	0.05858	0.178000	0.23040	0.086000	0.17979	-1.607000	0.02070	-0.422000	0.07405	-1.278000	0.01390	GGT	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.423	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	protein_coding	OTTHUMT00000374742.1	G	NM_018918		140725202	+1	no_errors	NM_018918.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
BMP6	654	genome.wustl.edu	37	6	7845456	7845456	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr6:7845456G>A	ENST00000283147.6	+	2	907	c.748G>A	c.(748-750)Gtg>Atg	p.V250M		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	250					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGAGGGTGAGGTGGTGACGGC	0.438																																						dbGAP											0			6											124.0	122.0	123.0					6																	7845456		2203	4300	6503	7790455	SO:0001583	missense	0			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.748G>A	6.37:g.7845456G>A	ENSP00000283147:p.Val250Met	Somatic	194	0.00	0		3	0.00	0	WXS	Illumina HiSeq	Phase_IV	7790455	150	39.20	98	Q5TCP3	Missense_Mutation	SNP	HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501	p.V250M	ENST00000283147.6	37	c.748	CCDS4503.1	6	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362624	0.82353	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.65916	-0.18	5.41	5.41	0.78517	Transforming growth factor-beta, N-terminal (1);	0.100678	0.64402	D	0.000002	T	0.52773	0.1755	L	0.45352	1.415	0.20873	N	0.999835	P	0.45715	0.865	P	0.51055	0.657	T	0.52162	-0.8612	10	0.54805	T	0.06	.	13.4972	0.61432	0.0751:0.0:0.9249:0.0	.	250	P22004	BMP6_HUMAN	M	172;250;213	ENSP00000283147:V250M	ENSP00000283147:V250M	V	+	1	0	BMP6	7790455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.428000	0.80296	2.528000	0.85240	0.557000	0.71058	GTG	-	HMMPfam_TGFb_propeptide		0.438	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	protein_coding	OTTHUMT00000039794.1	G	NM_001718		7790455	+1	no_errors	NM_001718.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
WDR27	253769	genome.wustl.edu	37	6	170033132	170033132	+	Missense_Mutation	SNP	C	C	T	rs562314826		TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr6:170033132C>T	ENST00000448612.1	-	21	2243	c.2134G>A	c.(2134-2136)Gtg>Atg	p.V712M	WDR27_ENST00000423258.1_Missense_Mutation_p.V585M|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.V712M	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	682						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		AACACTTCCACGGTCCTGTTC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		16621	0.0		0.0	False		,,,				2504	0.001					dbGAP											0			6											61.0	63.0	62.0					6																	170033132		1997	4162	6159	169775057	SO:0001583	missense	0			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2134G>A	6.37:g.170033132C>T	ENSP00000416289:p.Val712Met	Somatic	43	0.00	0		2	50.00	2	WXS	Illumina HiSeq	Phase_IV	169775057	62	38.83	40	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.V712M	ENST00000448612.1	37	c.2134	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588345	0.46110	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.39056	4.61;1.1;4.61	5.04	-10.1	0.00402	.	0.598876	0.15252	N	0.272258	T	0.24699	0.0599	L	0.35644	1.08	0.44825	D	0.997837	P;D;P	0.65815	0.517;0.995;0.802	B;P;B	0.56514	0.078;0.8;0.162	T	0.72250	-0.4348	10	0.72032	D	0.01	-3.5969	12.5104	0.56003	0.217:0.2684:0.5146:0.0	.	712;585;712	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	M	712;712;585	ENSP00000416289:V712M;ENSP00000330265:V712M;ENSP00000397869:V585M	ENSP00000330265:V712M	V	-	1	0	WDR27	169775057	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.526000	0.02229	-2.863000	0.00326	-1.036000	0.02392	GTG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like		0.537	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	protein_coding	OTTHUMT00000407334.1	C	NM_182552		169775057	-1	no_errors	NM_182552.3	genbank	human	validated	54_36p	missense	SNP	0.002	T
PKHD1L1	93035	genome.wustl.edu	37	8	110523048	110523048	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr8:110523048G>A	ENST00000378402.5	+	71	11542	c.11438G>A	c.(11437-11439)aGa>aAa	p.R3813K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3813					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACATGCCAGAGAAGGCTGTCC	0.408										HNSCC(38;0.096)																												dbGAP											0			8											196.0	189.0	191.0					8																	110523048		1952	4162	6114	110592224	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11438G>A	8.37:g.110523048G>A	ENSP00000367655:p.Arg3813Lys	Somatic	177	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	110592224	203	49.13	198	Q567P2|Q9UF27	Missense_Mutation	SNP	HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen	p.R3813K	ENST00000378402.5	37	c.11438	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	3.758	-0.050292	0.07407	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.83250	-1.7;-1.55	5.87	4.05	0.47172	.	0.124881	0.53938	D	0.000059	T	0.54078	0.1836	N	0.02011	-0.69	0.21473	N	0.999671	B	0.02656	0.0	B	0.01281	0.0	T	0.46428	-0.9192	10	0.02654	T	1	.	8.4269	0.32733	0.2411:0.0:0.7589:0.0	.	3813	Q86WI1	PKHL1_HUMAN	K	3813;741	ENSP00000367655:R3813K;ENSP00000437376:R741K	ENSP00000367655:R3813K	R	+	2	0	PKHD1L1	110592224	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	1.123000	0.31308	1.616000	0.50265	0.655000	0.94253	AGA	-	NULL		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110592224	+1	no_errors	NM_177531.4	genbank	human	validated	54_36p	missense	SNP	1.000	A
CCDC171	203238	genome.wustl.edu	37	9	15744617	15744617	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr9:15744617G>A	ENST00000380701.3	+	17	2724	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H	CCDC171_ENST00000297641.3_Missense_Mutation_p.R799H	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	799																	GGATTGATACGTATATTTCGG	0.393																																						dbGAP											0			9											82.0	80.0	80.0					9																	15744617		2203	4300	6503	15734617	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2396G>A	9.37:g.15744617G>A	ENSP00000370077:p.Arg799His	Somatic	163	0.00	0		15	28.57	6	WXS	Illumina HiSeq	Phase_IV	15734617	158	29.52	67	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	NULL	p.R799H	ENST00000380701.3	37	c.2396	CCDS6481.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.00|11.00	1.511159|1.511159	0.27036|0.27036	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701|ENST00000449575	T;T|.	0.16196|.	2.36;2.36|.	5.46|5.46	4.55|4.55	0.56014|0.56014	.|.	0.286938|.	0.38897|.	N|.	0.001524|.	T|T	0.27098|0.27098	0.0664|0.0664	N|N	0.08118|0.08118	0|0	0.34355|0.34355	D|D	0.690256|0.690256	B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.001|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.28839|0.28839	-1.0031|-1.0031	10|5	0.17369|.	T|.	0.5|.	-0.191|-0.191	6.41|6.41	0.21686|0.21686	0.1919:0.0:0.8081:0.0|0.1919:0.0:0.8081:0.0	.|.	807;799;66;799|.	B7ZM22;Q6TFL3-3;A6NK04;Q6TFL3|.	.;.;.;CI093_HUMAN|.	H|I	799;66;799|39	ENSP00000297641:R799H;ENSP00000370077:R799H|.	ENSP00000297641:R799H|.	R|V	+|+	2|1	0|0	C9orf93|C9orf93	15734617|15734617	0.037000|0.037000	0.19845|0.19845	0.164000|0.164000	0.22755|0.22755	0.263000|0.263000	0.26337|0.26337	0.847000|0.847000	0.27696|0.27696	2.733000|2.733000	0.93635|0.93635	0.467000|0.467000	0.42956|0.42956	CGT|GTA	-	NULL		0.393	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf93	protein_coding	OTTHUMT00000051768.4	G	NM_173550		15734617	+1	no_errors	NM_173550.2	genbank	human	predicted	54_36p	missense	SNP	0.887	A
CSTF2T	23283	genome.wustl.edu	37	10	53458696	53458696	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr10:53458696G>T	ENST00000331173.4	-	1	659	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	205					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CACAGACTGAGATTTGCCTGG	0.537																																						dbGAP											0			10											97.0	85.0	89.0					10																	53458696		2203	4300	6503	53128702	SO:0001583	missense	0			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.614C>A	10.37:g.53458696G>T	ENSP00000332444:p.Ser205Tyr	Somatic	101	0.98	1		17	34.62	9	WXS	Illumina HiSeq	Phase_IV	53128702	137	36.57	79	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.S205Y	ENST00000331173.4	37	c.614	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066984	0.55539	.	.	ENSG00000177613	ENST00000331173	T	0.21734	1.99	5.0	5.0	0.66597	.	0.440036	0.19899	N	0.103555	T	0.19805	0.0476	N	0.08118	0	0.31509	N	0.663881	D	0.56968	0.978	P	0.53722	0.733	T	0.05801	-1.0863	10	0.62326	D	0.03	-0.0141	14.0016	0.64437	0.0:0.0:1.0:0.0	.	205	Q9H0L4	CSTFT_HUMAN	Y	205	ENSP00000332444:S205Y	ENSP00000332444:S205Y	S	-	2	0	CSTF2T	53128702	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.251000	0.43187	2.766000	0.95052	0.655000	0.94253	TCT	-	NULL		0.537	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	protein_coding	OTTHUMT00000048097.1	G	NM_015235		53128702	-1	no_errors	NM_015235.2	genbank	human	validated	54_36p	missense	SNP	0.993	T
ST13P13	401648	genome.wustl.edu	37	10	104975971	104975971	+	IGR	SNP	A	A	G	rs201185102		TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr10:104975971A>G								NT5C2 (22915 upstream) : RP11-332O19.5 (29672 downstream)																							TGACAGAGCCATTGAAATAAA	0.468																																						dbGAP											0			10																																								104965961	SO:0001628	intergenic_variant	0																															10.37:g.104975971A>G		Somatic	46	14.81	8		15	0.00	0	WXS	Illumina HiSeq	Phase_IV	104965961	26	58.73	37		RNA	SNP	-	NULL		37	NULL		10																																																																																			-	-	0	0.468					LOC401648			A			104965961	+1	pseudogene	XR_017482.1	genbank	human	model	54_36p	rna	SNP	0.999	G
DDX11	1663	genome.wustl.edu	37	12	31245812	31245812	+	Silent	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr12:31245812C>T	ENST00000407793.2	+	11	1526	c.1275C>T	c.(1273-1275)taC>taT	p.Y425Y	DDX11_ENST00000228264.6_Silent_p.Y399Y|DDX11_ENST00000350437.4_Silent_p.Y425Y|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.Y425Y|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000545668.1_Silent_p.Y425Y	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	425	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGCTGCAGTACGTGGAGCGAT	0.587										Multiple Myeloma(12;0.14)																												dbGAP											0			12											102.0	94.0	97.0					12																	31245812		2203	4300	6503	31137079	SO:0001819	synonymous_variant	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1275C>T	12.37:g.31245812C>T		Somatic	61	0.00	0		53	25.35	18	WXS	Illumina HiSeq	Phase_IV	31137079	72	38.98	46	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	HMMSmart_SM00488,HMMSmart_SM00491,HMMPfam_DEAD_2,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Y425	ENST00000407793.2	37	c.1275	CCDS44856.1	12																																																																																			-	HMMSmart_SM00488		0.587	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	protein_coding	OTTHUMT00000399728.1	C	NM_030653		31137079	+1	no_errors	NM_152438.2	genbank	human	reviewed	54_36p	silent	SNP	0.997	T
SPG11	80208	genome.wustl.edu	37	15	44955823	44955823	+	Missense_Mutation	SNP	G	G	C	rs200939573		TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr15:44955823G>C	ENST00000261866.7	-	1	39	c.23C>G	c.(22-24)gCg>gGg	p.A8G	SPG11_ENST00000535302.2_Missense_Mutation_p.A8G|SPG11_ENST00000558319.1_Missense_Mutation_p.A8G|SPG11_ENST00000427534.2_Missense_Mutation_p.A8G|SPG11_ENST00000559193.1_Missense_Mutation_p.A8G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	8					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCAGCACTCGCGACCCCTTC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		15637	0.001		0.0	False		,,,				2504	0.0					dbGAP											0			15											7.0	9.0	8.0					15																	44955823		2101	4178	6279	42743115	SO:0001583	missense	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.23C>G	15.37:g.44955823G>C	ENSP00000261866:p.Ala8Gly	Somatic	17	0.00	0		5	64.29	9	WXS	Illumina HiSeq	Phase_IV	42743115	45	20.69	12	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	PatternScan_GLYCOSYL_HYDROL_F1_1	p.A8G	ENST00000261866.7	37	c.23	CCDS10112.1	15	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	G	3.883	-0.025632	0.07589	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.75367	-0.93;-0.66;-0.68	5.53	1.56	0.23342	.	0.934142	0.08960	N	0.868891	T	0.37972	0.1023	N	0.00583	-1.355	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.24476	-1.0159	10	0.02654	T	1	.	10.4812	0.44695	0.1412:0.4428:0.416:0.0	.	8;8;8;8	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	G	8	ENSP00000261866:A8G;ENSP00000445278:A8G;ENSP00000396110:A8G	ENSP00000261866:A8G	A	-	2	0	SPG11	42743115	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.012000	0.13287	0.046000	0.15833	-2.042000	0.00416	GCG	-	NULL		0.687	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	protein_coding	OTTHUMT00000253927.1	G			42743115	-1	no_errors	NM_025137.3	genbank	human	reviewed	54_36p	missense	SNP	0.021	C
RPL18P13	441775	genome.wustl.edu	37	16	76269409	76269409	+	lincRNA	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr16:76269409C>T	ENST00000568714.1	-	0	135																											GGAGTCGGTTCGTCTGGCCAG	0.527																																						dbGAP											0			16																																								74826910			0																															16.37:g.76269409C>T		Somatic	86	0.00	0		8	0.00	0	WXS	Illumina HiSeq	Phase_IV	74826910	154	33.76	80		RNA	SNP	-	NULL	ENST00000568714.1	37	NULL		16																																																																																			-	-		0.527	RP11-150D5.2-001	KNOWN	basic	lincRNA	LOC441775	lincRNA	OTTHUMT00000434958.1	C			74826910	-1	pseudogene	XR_042366.2	genbank	human	model	54_36p	rna	SNP	0.010	T
PRPF8	10594	genome.wustl.edu	37	17	1580392	1580392	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr17:1580392C>G	ENST00000572621.1	-	14	2324	c.2059G>C	c.(2059-2061)Gca>Cca	p.A687P	PRPF8_ENST00000304992.6_Missense_Mutation_p.A687P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	687					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATCACAGCTGCCCGCAGCTCA	0.547																																						dbGAP											0			17											162.0	133.0	143.0					17																	1580392		2203	4300	6503	1527142	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2059G>C	17.37:g.1580392C>G	ENSP00000460348:p.Ala687Pro	Somatic	117	0.00	0		17	85.71	102	WXS	Illumina HiSeq	Phase_IV	1527142	30	56.94	41	O14547|O75965	Missense_Mutation	SNP	HMMPfam_Mov34,HMMSmart_SM00232,HMMPfam_PRO8NT,HMMPfam_PROCN,HMMPfam_PROCT,HMMPfam_U6-snRNA_bdg,HMMPfam_U5_2-snRNA_bdg,HMMPfam_RRM_4	p.A687P	ENST00000572621.1	37	c.2059	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081868	0.76528	.	.	ENSG00000174231	ENST00000304992	D	0.81821	-1.54	5.94	5.94	0.96194	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	H	0.94385	3.53	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	D	0.93978	0.7255	10	0.72032	D	0.01	-15.6891	20.3594	0.98849	0.0:1.0:0.0:0.0	.	687	Q6P2Q9	PRP8_HUMAN	P	687	ENSP00000304350:A687P	ENSP00000304350:A687P	A	-	1	0	PRPF8	1527142	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.784000	0.85713	2.816000	0.96949	0.563000	0.77884	GCA	-	HMMPfam_PROCN		0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	protein_coding	OTTHUMT00000438412.2	C			1527142	-1	no_errors	NM_006445.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	rs587782529		TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCTCGAAGCGCTCACGCCCA	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(1)	17	GRCh37	CM981929	TP53	M							56.0	44.0	48.0					17																	7574018		2203	4300	6503	7514743	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	Somatic	104	0.00	0		5	94.49	120	WXS	Illumina HiSeq	Phase_IV	7514743	63	64.80	116	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.R337C	ENST00000269305.4	37	c.1009	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC	-	HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7514743	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	0.465	A
KRT19	3880	genome.wustl.edu	37	17	39681182	39681182	+	Silent	SNP	A	A	G			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr17:39681182A>G	ENST00000361566.3	-	3	633	c.573T>C	c.(571-573)gaT>gaC	p.D191D	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	191	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GGGTCAGCTCATCCAGCACCC	0.577																																						dbGAP											0			17											117.0	122.0	120.0					17																	39681182		2203	4300	6503	36934708	SO:0001819	synonymous_variant	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.573T>C	17.37:g.39681182A>G		Somatic	29	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	36934708	35	32.08	17	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF	p.D191	ENST00000361566.3	37	c.573	CCDS11399.1	17																																																																																			-	superfamily_Prefoldin,HMMPfam_Filament		0.577	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	protein_coding	OTTHUMT00000257285.1	A	NM_002276		36934708	-1	no_errors	NM_002276.4	genbank	human	reviewed	54_36p	silent	SNP	0.633	G
CACNA1G	8913	genome.wustl.edu	37	17	48673940	48673940	+	Silent	SNP	C	C	T	rs202154530		TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr17:48673940C>T	ENST00000359106.5	+	15	2997	c.2997C>T	c.(2995-2997)tcC>tcT	p.S999S	CACNA1G_ENST00000352832.5_Silent_p.S976S|CACNA1G_ENST00000515165.1_Silent_p.S999S|CACNA1G_ENST00000503485.1_Silent_p.S999S|CACNA1G_ENST00000514181.1_Silent_p.S999S|CACNA1G_ENST00000514079.1_Silent_p.S999S|CACNA1G_ENST00000358244.5_Silent_p.S976S|CACNA1G_ENST00000442258.2_Silent_p.S976S|CACNA1G_ENST00000507609.1_Silent_p.S999S|CACNA1G_ENST00000505165.1_Silent_p.S999S|CACNA1G_ENST00000513689.2_Silent_p.S999S|CACNA1G_ENST00000507336.1_Silent_p.S999S|CACNA1G_ENST00000416767.4_Silent_p.S999S|CACNA1G_ENST00000510115.1_Silent_p.S976S|CACNA1G_ENST00000515765.1_Silent_p.S999S|CACNA1G_ENST00000507896.1_Silent_p.S999S|CACNA1G_ENST00000512389.1_Silent_p.S999S|CACNA1G_ENST00000354983.4_Silent_p.S976S|CACNA1G_ENST00000515411.1_Silent_p.S999S|CACNA1G_ENST00000514717.1_Silent_p.S976S|CACNA1G_ENST00000429973.2_Silent_p.S999S|CACNA1G_ENST00000502264.1_Silent_p.S976S|CACNA1G_ENST00000513964.1_Silent_p.S999S|CACNA1G_ENST00000507510.2_Silent_p.S999S|CACNA1G_ENST00000510366.1_Silent_p.S999S|CACNA1G_ENST00000360761.4_Silent_p.S976S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	999					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAACAAGTCCGAATCAGAGC	0.597																																						dbGAP											0			17											90.0	97.0	95.0					17																	48673940		2098	4211	6309	46028939	SO:0001819	synonymous_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2997C>T	17.37:g.48673940C>T		Somatic	50	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	46028939	82	30.25	36	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels	p.S999	ENST00000359106.5	37	c.2997	CCDS45730.1	17																																																																																			-	NULL		0.597	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	protein_coding	OTTHUMT00000367895.1	C	NM_018896		46028939	+1	no_errors	NM_018896.3	genbank	human	validated	54_36p	silent	SNP	0.579	T
MUC16	94025	genome.wustl.edu	37	19	9076508	9076508	+	Silent	SNP	G	G	A			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr19:9076508G>A	ENST00000397910.4	-	3	11141	c.10938C>T	c.(10936-10938)tcC>tcT	p.S3646S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3647	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGCATCAGAGGATGGAGTGA	0.453																																						dbGAP											0			19											101.0	105.0	103.0					19																	9076508		1988	4163	6151	8937508	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10938C>T	19.37:g.9076508G>A		Somatic	293	0.34	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	8937508	322	36.97	193	Q6ZQW5|Q96RK2	Silent	SNP	HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain	p.S3646	ENST00000397910.4	37	c.10938	CCDS54212.1	19																																																																																			-	NULL		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690		8937508	-1	no_errors	NM_024690.2	genbank	human	validated	54_36p	silent	SNP	0.000	A
