#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	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_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
MT-ND5	4540	genome.wustl.edu	37	M	14133	14133	+	Silent	SNP	A	A	C			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chrM:14133A>C	ENST00000361567.2	+	1	1797	c.1797A>C	c.(1795-1797)ctA>ctC	p.L599L	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	0					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ATCCTAACCCTACTCCTAATC	0.398																																							0											0																																										SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1797A>C	M.37:g.14133A>C			Q34773|Q8WCY3	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.L599	ENST00000361567.2	37	c.1797		MT																																																																																			0	pfam_NADH_DH_su5_C		0.398	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	protein_coding		9	4	0	0.00	0	0	A	YP_003024036	0	0		14133	1	no_errors	ENST00000361567	ensembl	human	known	74_37	silent	9	0	67.86	100.00	19	3	SNP	NULL	C
SLC38A5	92745	genome.wustl.edu	37	X	48326271	48326271	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chrX:48326271G>A	ENST00000376876.3	-	2	884	c.41C>T	c.(40-42)tCg>tTg	p.S14L	SLC38A5_ENST00000376875.1_5'Flank|SLC38A5_ENST00000317669.5_Missense_Mutation_p.S14L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	14					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CACAGCATCCGAAGGGAGGGC	0.557																																							0											0													58.0	46.0	50.0					X																	48326271		2203	4298	6501	SO:0001583	missense	0			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.41C>T	X.37:g.48326271G>A	ENSP00000366073:p.Ser14Leu		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.S14L	ENST00000376876.3	37	c.41	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	g	9.422	1.083262	0.20309	.	.	ENSG00000017483	ENST00000376876;ENST00000317669;ENST00000440085;ENST00000441948;ENST00000413668;ENST00000416711;ENST00000429543	T;T;T;T;T;T;T	0.46451	3.09;3.09;1.5;1.5;1.48;1.47;0.87	4.41	2.46	0.29980	.	1.913480	0.02268	N	0.068168	T	0.25938	0.0632	N	0.08118	0	0.09310	N	1	B	0.24092	0.097	B	0.14578	0.011	T	0.23440	-1.0188	10	0.66056	D	0.02	.	5.8519	0.18697	0.0:0.2259:0.5603:0.2138	.	14	Q8WUX1	S38A5_HUMAN	L	14	ENSP00000366073:S14L;ENSP00000313740:S14L;ENSP00000402988:S14L;ENSP00000407258:S14L;ENSP00000403976:S14L;ENSP00000389644:S14L;ENSP00000416948:S14L	ENSP00000313740:S14L	S	-	2	0	SLC38A5	48211215	0.000000	0.05858	0.153000	0.22517	0.361000	0.29550	-0.454000	0.06770	0.664000	0.31047	0.292000	0.19580	TCG	0	NULL		0.557	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	protein_coding	OTTHUMT00000060724.1	46	81	0	0.00	0	0	G	NM_033518	0	0		48326271	-1	no_errors	ENST00000317669	ensembl	human	known	74_37	missense	66	100	16.46	29.58	13	42	SNP	0.013	A
OR14I1	401994	genome.wustl.edu	37	1	248844765	248844765	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr1:248844765G>A	ENST00000342623.3	-	1	864	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TTGAGGAAGGGAGGCAAAACT	0.403																																							0											0													100.0	95.0	97.0					1																	248844765		2203	4300	6503	SO:0001583	missense	0				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.841C>T	1.37:g.248844765G>A	ENSP00000339726:p.Pro281Ser			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.P281S	ENST00000342623.3	37	c.841	CCDS31125.1	1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.046584	0.75846	.	.	ENSG00000189181	ENST00000342623	T	0.00330	8.08	3.36	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000342	T	0.00936	0.0031	M	0.91140	3.18	0.39520	D	0.968509	D	0.65815	0.995	D	0.67382	0.951	T	0.59958	-0.7356	10	0.72032	D	0.01	.	12.1968	0.54303	0.0:0.0:1.0:0.0	.	281	A6ND48	O14I1_HUMAN	S	281	ENSP00000339726:P281S	ENSP00000339726:P281S	P	-	1	0	OR14I1	246911388	0.969000	0.33509	0.014000	0.15608	0.382000	0.30200	1.601000	0.36773	1.675000	0.50919	0.543000	0.68304	CCC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt		0.403	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14I1	protein_coding	OTTHUMT00000097128.1	56	213	0	0.00	0	0	G	NM_001004734	0	0		248844765	-1	no_errors	ENST00000342623	ensembl	human	known	74_37	missense	44	232	15.38	15.88	8	44	SNP	0.968	A
SF3B1	23451	genome.wustl.edu	37	2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	rs559063155		TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr2:198266834T>C	ENST00000335508.6	-	15	2189	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	SF3B1_ENST00000462613.1_5'UTR|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	700					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K700E(179)|p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCGAACTTTCTGCTGCTCA	0.408			Mis		myelodysplastic syndrome								T|||	1	0.000199681	0.0	0.0	5008	,	,		17946	0.0		0.0	False		,,,				2504	0.001						0		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	181	Substitution - Missense(179)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(153)|NS(20)|breast(5)|pancreas(2)|central_nervous_system(1)																																								SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu		E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.K700E	ENST00000335508.6	37	c.2098	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	T	33	5.243295	0.95272	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89820	0.3988	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	700	O75533	SF3B1_HUMAN	E	700	ENSP00000335321:K700E	ENSP00000335321:K700E	K	-	1	0	SF3B1	197975079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.304000	0.77564	0.528000	0.53228	AAA	0	superfamily_ARM-type_fold		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	protein_coding	OTTHUMT00000335245.2	41	167	0	0.00	0	0	T		rs559063155	T->C		198266834	-1	no_errors	ENST00000335508	ensembl	human	known	74_37	missense	38	248	20.83	11.70	10	33	SNP	1	C
PBRM1	55193	genome.wustl.edu	37	3	52620451	52620451	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr3:52620451T>C	ENST00000296302.7	-	20	3378	c.3377A>G	c.(3376-3378)aAc>aGc	p.N1126S	PBRM1_ENST00000337303.4_Missense_Mutation_p.N1126S|PBRM1_ENST00000394830.3_Missense_Mutation_p.N1101S|PBRM1_ENST00000410007.1_Missense_Mutation_p.N1101S|PBRM1_ENST00000409057.1_Missense_Mutation_p.N1126S|PBRM1_ENST00000409767.1_Missense_Mutation_p.N1141S|PBRM1_ENST00000356770.4_Missense_Mutation_p.N1094S|PBRM1_ENST00000409114.3_Missense_Mutation_p.N1141S			Q86U86	PB1_HUMAN	polybromo 1	1126					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTTTCCAAGTTAAAATTGTC	0.358			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																		0		Rec	yes		3	3p21	55193	polybromo 1		E	0													143.0	149.0	147.0					3																	52620451		2203	4300	6503	SO:0001583	missense	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3377A>G	3.37:g.52620451T>C	ENSP00000296302:p.Asn1126Ser		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.N1126S	ENST00000296302.7	37	c.3377		3	.	.	.	.	.	.	.	.	.	.	T	2.200	-0.383199	0.04966	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.33654	1.42;1.42;1.46;1.42;1.42;1.43;1.88;1.42;1.42;1.4	5.14	3.96	0.45880	.	0.336709	0.29884	N	0.010943	T	0.14399	0.0348	N	0.08118	0	0.27911	N	0.938625	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.001;0.001;0.0;0.0;0.001	T	0.17198	-1.0377	10	0.15066	T	0.55	-26.3629	3.1414	0.06457	0.1407:0.0752:0.1469:0.6372	.	1101;1125;1101;1126;1141;1141;1126;1094;1126	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	S	1094;1101;1126;1126;1126;1101;1141;1141;1125;1084	ENSP00000349213:N1094S;ENSP00000378307:N1101S;ENSP00000296302:N1126S;ENSP00000338302:N1126S;ENSP00000386593:N1126S;ENSP00000386529:N1101S;ENSP00000386643:N1141S;ENSP00000386601:N1141S;ENSP00000387775:N1125S;ENSP00000397662:N1084S	ENSP00000296302:N1126S	N	-	2	0	PBRM1	52595491	1.000000	0.71417	0.986000	0.45419	0.574000	0.36063	1.108000	0.31123	0.875000	0.35847	-0.509000	0.04479	AAC	0	NULL		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	protein_coding	OTTHUMT00000327232.1	42	225	0	0.00	0	0	T	NM_018165	0	0		52620451	-1	no_errors	ENST00000296302	ensembl	human	known	74_37	missense	45	216	10	13.60	5	34	SNP	0.843	C
TACC1	6867	genome.wustl.edu	37	8	38677775	38677775	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr8:38677775C>A	ENST00000317827.4	+	3	1392	c.1013C>A	c.(1012-1014)cCa>cAa	p.P338Q	TACC1_ENST00000330691.6_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.P293Q|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Missense_Mutation_p.P302Q|TACC1_ENST00000520615.1_Missense_Mutation_p.P143Q|TACC1_ENST00000519416.1_Missense_Mutation_p.P143Q|TACC1_ENST00000379931.3_Missense_Mutation_p.P338Q|TACC1_ENST00000443286.2_Missense_Mutation_p.P354Q|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.P143Q	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	338	Interaction with YEATS4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AAAGCCCTTCCAAGGAAGCTT	0.502																																							0											0													78.0	84.0	82.0					8																	38677775		2203	4300	6503	SO:0001583	missense	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1013C>A	8.37:g.38677775C>A	ENSP00000321703:p.Pro338Gln		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.P338Q	ENST00000317827.4	37	c.1013	CCDS6109.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.241782|4.241782	0.79912|0.79912	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973|ENST00000521866	T;T;T;T;T;T;T;T|.	0.37058|.	1.3;1.22;1.47;1.36;1.39;1.43;1.44;1.29|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.065913|.	0.64402|.	D|.	0.000009|.	T|T	0.72977|0.72977	0.3528|0.3528	M|M	0.76838|0.76838	2.35|2.35	0.47341|0.47341	D|D	0.999397|0.999397	D;D;D;D;D;D;P;D|.	0.89917|.	1.0;0.985;0.985;0.993;0.999;1.0;0.944;0.999|.	D;P;P;P;D;D;P;D|.	0.80764|.	0.994;0.823;0.836;0.844;0.954;0.965;0.732;0.967|.	T|T	0.73997|0.73997	-0.3806|-0.3806	10|5	0.72032|.	D|.	0.01|.	-9.3805|-9.3805	11.1913|11.1913	0.48687|0.48687	0.0:0.914:0.0:0.086|0.0:0.914:0.0:0.086	.|.	143;143;143;354;338;338;143;293|.	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7|.	.;.;.;.;.;TACC1_HUMAN;.;.|.	Q|K	143;143;143;354;293;310;338;338;143|113	ENSP00000428687:P143Q;ENSP00000428450:P143Q;ENSP00000393647:P354Q;ENSP00000428706:P293Q;ENSP00000430355:P310Q;ENSP00000321703:P338Q;ENSP00000369263:P338Q;ENSP00000430959:P143Q|.	ENSP00000321703:P338Q|.	P|Q	+|+	2|1	0|0	TACC1|TACC1	38796932|38796932	0.350000|0.350000	0.24878|0.24878	0.998000|0.998000	0.56505|0.56505	0.946000|0.946000	0.59487|0.59487	2.512000|2.512000	0.45485|0.45485	2.440000|2.440000	0.82611|0.82611	0.563000|0.563000	0.77884|0.77884	CCA|CAA	0	NULL		0.502	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	protein_coding	OTTHUMT00000376768.1	42	129	0	1.53	0	2	C	NM_006283	0	0		38677775	1	no_errors	ENST00000379931	ensembl	human	known	74_37	missense	66	166	9.46	6.21	7	11	SNP	0.998	A
TONSL	4796	genome.wustl.edu	37	8	145663936	145663936	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr8:145663936C>T	ENST00000409379.3	-	13	1600	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	524					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GTCGTTTCGCCGGTTCCACTG	0.706																																							0											0													49.0	50.0	49.0					8																	145663936		2203	4299	6502	SO:0001583	missense	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1571G>A	8.37:g.145663936C>T	ENSP00000386239:p.Arg524Gln		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R524Q	ENST00000409379.3	37	c.1571	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550985	0.65311	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.70399	-0.48	5.01	4.13	0.48395	Ankyrin repeat-containing domain (3);	0.055831	0.64402	D	0.000002	T	0.70219	0.3199	N	0.14661	0.345	0.41900	D	0.990416	D	0.89917	1.0	D	0.80764	0.994	T	0.73889	-0.3840	10	0.66056	D	0.02	-33.9744	11.053	0.47901	0.0:0.9083:0.0:0.0917	.	524	Q96HA7	TONSL_HUMAN	Q	524	ENSP00000386239:R524Q	ENSP00000386239:R524Q	R	-	2	0	TONSL	145634744	0.997000	0.39634	0.998000	0.56505	0.337000	0.28794	2.777000	0.47717	1.117000	0.41842	0.491000	0.48974	CGG	0	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.706	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	protein_coding	OTTHUMT00000329668.2	60	74	1.64	0.00	1	0	C	NM_013432	0	0		145663936	-1	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	56	78	15.15	10.34	10	9	SNP	0.998	T
C9orf43	257169	genome.wustl.edu	37	9	116183409	116183409	+	Silent	SNP	G	G	A	rs372647158		TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr9:116183409G>A	ENST00000288462.4	+	5	818	c.372G>A	c.(370-372)acG>acA	p.T124T	C9orf43_ENST00000374165.1_Silent_p.T124T|C9orf43_ENST00000490544.1_3'UTR	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	124										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGAATGAGACGCAACTTCCCT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		20422	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997											0													160.0	140.0	147.0					9																	116183409		2203	4300	6503	SO:0001819	synonymous_variant	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.372G>A	9.37:g.116183409G>A				Silent	SNP	NULL	p.T124	ENST00000288462.4	37	c.372	CCDS6796.1	9																																																																																			0	NULL		0.398	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	protein_coding	OTTHUMT00000053739.1	21	189	0	0.00	0	0	G	NM_152786	rs372647158	G->A		116183409	1	no_errors	ENST00000288462	ensembl	human	known	74_37	silent	24	278	11.11	5.44	3	16	SNP	0.093	A
RIMBP2	23504	genome.wustl.edu	37	12	130935797	130935797	+	Silent	SNP	G	G	A			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr12:130935797G>A	ENST00000261655.4	-	5	559	c.396C>T	c.(394-396)tcC>tcT	p.S132S	RIMBP2_ENST00000535703.1_Silent_p.S40S|RIMBP2_ENST00000536002.1_Silent_p.S40S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	132					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S132S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGGCTTGGCGGACAGAGGCT	0.642																																							0											1	Substitution - coding silent(1)	NS(1)											59.0	57.0	58.0					12																	130935797		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.396C>T	12.37:g.130935797G>A			Q96ID2	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.S132	ENST00000261655.4	37	c.396	CCDS31925.1	12																																																																																			0	NULL		0.642	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	59	59	0	0.00	0	0	G	NM_015347	0	0		130935797	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	50	43	16.67	20.37	10	11	SNP	0.928	A
BRCA2	675	genome.wustl.edu	37	13	32921032	32921032	+	Splice_Site	SNP	C	C	T	rs80359632|rs397507890|rs431825347		TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr13:32921032C>T	ENST00000380152.3	+	13	7239	c.7006C>T	c.(7006-7008)Cgc>Tgc	p.R2336C	BRCA2_ENST00000544455.1_Splice_Site_p.R2336C			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2336			R -> H (in FANCD1; dbSNP:rs28897743). {ECO:0000269|PubMed:16825431, ECO:0000269|PubMed:17924331}.|R -> Q (in dbSNP:rs28897743).		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTACCCTTTCGGTAAGACAT	0.279			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		0	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													78.0	79.0	79.0					13																	32921032		2202	4293	6495	SO:0001630	splice_region_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7007+1C>T	13.37:g.32921032C>T			O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.R2336C	ENST00000380152.3	37	c.7006	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	3.953	-0.011934	0.07727	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75704	-0.96;-0.96	5.03	-5.6	0.02497	.	0.901808	0.09597	N	0.780759	T	0.37865	0.1019	N	0.01742	-0.745	0.21290	N	0.999738	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.38643	T	0.18	.	1.7491	0.02968	0.181:0.3815:0.1324:0.3051	.	2336	P51587	BRCA2_HUMAN	C	2336	ENSP00000369497:R2336C;ENSP00000439902:R2336C	ENSP00000369497:R2336C	R	+	1	0	BRCA2	31819032	0.064000	0.20934	0.162000	0.22713	0.356000	0.29392	-0.029000	0.12329	-0.633000	0.05545	-1.324000	0.01287	CGC	0	pirsf_BRCA2		0.279	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	73	270	0	0.37	0	1	C	NM_000059	rs431825347	C->G,T	Missense_Mutation	32921032	1	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	80	336	13.98	15.33	13	61	SNP	0.118	T
ARID3B	10620	genome.wustl.edu	37	15	74883596	74883596	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr15:74883596C>G	ENST00000346246.5	+	6	1217	c.986C>G	c.(985-987)cCc>cGc	p.P329R		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	329	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGCCGGCGGCCCAGCTACAGC	0.612																																							0											0													69.0	83.0	78.0					15																	74883596		2197	4296	6493	SO:0001583	missense	0				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.986C>G	15.37:g.74883596C>G	ENSP00000343126:p.Pro329Arg		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P329R	ENST00000346246.5	37	c.986	CCDS10264.1	15	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712507	0.68730	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.52057	0.68	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.63843	1.955	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.996;0.999	D;P;D	0.72075	0.947;0.86;0.976	T	0.68334	-0.5436	10	0.54805	T	0.06	-17.7279	18.889	0.92391	0.0:1.0:0.0:0.0	.	329;329;329	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	R	329	ENSP00000343126:P329R	ENSP00000343126:P329R	P	+	2	0	ARID3B	72670649	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	2.244000	0.43124	2.472000	0.83506	0.655000	0.94253	CCC	0	NULL		0.612	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	protein_coding	OTTHUMT00000280688.2	56	61	0	1.59	0	1	C	NM_006465	0	0		74883596	1	no_errors	ENST00000346246	ensembl	human	known	74_37	missense	45	66	16.67	13.16	9	10	SNP	1	G
WDR90	197335	genome.wustl.edu	37	16	712780	712780	+	Missense_Mutation	SNP	C	C	T	rs576866547	byFrequency	TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr16:712780C>T	ENST00000293879.4	+	34	4247	c.4247C>T	c.(4246-4248)aCg>aTg	p.T1416M	WDR90_ENST00000549091.1_Missense_Mutation_p.T1418M|WDR90_ENST00000315764.4_5'Flank|WDR90_ENST00000547944.1_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1416										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACGGCGGGCACGCTGTGGTTT	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17268	0.0		0.0	False		,,,				2504	0.0						0.9996,0.0003994											0													35.0	37.0	36.0					16																	712780		2134	4231	6365	SO:0001583	missense	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4247C>T	16.37:g.712780C>T	ENSP00000293879:p.Thr1416Met		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1418M	ENST00000293879.4	37	c.4253	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720665	0.48728	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.32272	1.46;1.46	5.0	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000001	T	0.51702	0.1690	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.53436	-0.8439	10	0.62326	D	0.03	.	12.0694	0.53607	0.0:0.9166:0.0:0.0834	.	1418;1416	F8VUX9;Q96KV7	.;WDR90_HUMAN	M	1418;1416	ENSP00000448122:T1418M;ENSP00000293879:T1416M	ENSP00000293879:T1416M	T	+	2	0	WDR90	652781	1.000000	0.71417	0.222000	0.23844	0.009000	0.06853	5.581000	0.67471	1.105000	0.41606	0.491000	0.48974	ACG	0	superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.652	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	protein_coding	OTTHUMT00000404335.1	19	58	0	0.00	0	0	C	NM_145294	rs576866547	C->T		712780	1	no_errors	ENST00000549091	ensembl	human	novel	74_37	missense	28	62	9.68	8.82	3	6	SNP	0.998	T
SLC12A3	6559	genome.wustl.edu	37	16	56918063	56918063	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr16:56918063T>A	ENST00000563236.1	+	14	1797	c.1772T>A	c.(1771-1773)aTc>aAc	p.I591N	SLC12A3_ENST00000566786.1_Missense_Mutation_p.I590N|SLC12A3_ENST00000262502.5_Missense_Mutation_p.I590N|SLC12A3_ENST00000438926.2_Missense_Mutation_p.I591N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	591					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCGGCCCTCATCGCCATTGGC	0.597																																							0											0													158.0	131.0	140.0					16																	56918063		2198	4300	6498	SO:0001583	missense	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1772T>A	16.37:g.56918063T>A	ENSP00000456149:p.Ile591Asn		A8MSJ2|C9JNN9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.I591N	ENST00000563236.1	37	c.1772	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495076	0.85069	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.04	5.04	0.67666	Amino acid permease domain (1);	0.051367	0.85682	D	0.000000	D	0.85141	0.5629	M	0.92077	3.27	0.80722	D	1	D;D;D	0.63046	0.991;0.992;0.991	D;D;D	0.71184	0.936;0.972;0.953	D	0.89034	0.3444	9	0.87932	D	0	.	14.7736	0.69699	0.0:0.0:0.0:1.0	.	590;591;591	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	N	590;591	.	ENSP00000262502:I591N	I	+	2	0	SLC12A3	55475564	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.896000	0.87350	1.892000	0.54788	0.379000	0.24179	ATC	0	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS		0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	protein_coding	OTTHUMT00000432337.1	24	119	0	0.00	0	0	T		0	0		56918063	1	no_errors	ENST00000438926	ensembl	human	known	74_37	missense	22	108	15.38	21.17	4	29	SNP	1	A
JPH3	57338	genome.wustl.edu	37	16	87723875	87723875	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr16:87723875C>T	ENST00000284262.2	+	4	2151	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	637					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGGCGCCTGCCGGGGCTTGGG	0.647																																							0											0													11.0	12.0	12.0					16																	87723875		2172	4276	6448	SO:0001583	missense	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1909C>T	16.37:g.87723875C>T	ENSP00000284262:p.Arg637Trp		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.R637W	ENST00000284262.2	37	c.1909	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793413	0.31685	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.50001	0.76	4.42	4.42	0.53409	.	0.168474	0.38217	N	0.001771	T	0.35098	0.0920	L	0.27053	0.805	0.42198	D	0.991754	B	0.09022	0.002	B	0.01281	0.0	T	0.25676	-1.0125	10	0.66056	D	0.02	.	11.9	0.52678	0.1868:0.8132:0.0:0.0	.	637	Q8WXH2	JPH3_HUMAN	W	500;637	ENSP00000284262:R637W	ENSP00000284262:R637W	R	+	1	2	JPH3	86281376	1.000000	0.71417	0.773000	0.31616	0.140000	0.21249	2.776000	0.47709	2.020000	0.59435	0.655000	0.94253	CGG	0	pirsf_Junctophilin		0.647	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	protein_coding	OTTHUMT00000269108.2	67	53	0	1.85	0	1	C		0	0		87723875	1	no_errors	ENST00000284262	ensembl	human	known	74_37	missense	55	54	15.38	11.48	10	7	SNP	1	T
NPLOC4	55666	genome.wustl.edu	37	17	79596825	79596825	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr17:79596825G>A	ENST00000331134.6	-	2	237	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000374747.5_Missense_Mutation_p.R8C	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	8					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R8C(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GACTGGACACGAATTATCTGT	0.463																																							0											1	Substitution - Missense(1)	lung(1)											177.0	176.0	176.0					17																	79596825		2002	4181	6183	SO:0001583	missense	0			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.22C>T	17.37:g.79596825G>A	ENSP00000331487:p.Arg8Cys		Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4	p.R8C	ENST00000331134.6	37	c.22	CCDS45812.1	17	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912566	0.72983	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	4.28	4.28	0.50868	Nuclear pore localisation protein Npl4, ubiquitin-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83416	0.0030	9	0.87932	D	0	-14.1978	16.6546	0.85225	0.0:0.0:1.0:0.0	.	8;8	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	C	8;7	.	ENSP00000331487:R8C	R	-	1	0	NPLOC4	77207230	1.000000	0.71417	0.912000	0.35992	0.696000	0.40369	5.580000	0.67464	2.077000	0.62373	0.655000	0.94253	CGT	0	pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4		0.463	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPLOC4	protein_coding	OTTHUMT00000440140.1	43	165	0	0.00	0	0	G		0	0		79596825	-1	no_errors	ENST00000374747	ensembl	human	known	74_37	missense	13	245	23.53	9.93	4	27	SNP	1	A
SPTBN4	57731	genome.wustl.edu	37	19	41029463	41029463	+	Silent	SNP	C	C	G			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr19:41029463C>G	ENST00000352632.3	+	17	3860	c.3774C>G	c.(3772-3774)gcC>gcG	p.A1258A	SPTBN4_ENST00000598249.1_Silent_p.A1258A|SPTBN4_ENST00000338932.3_Silent_p.A1258A|SPTBN4_ENST00000344104.3_Silent_p.A1258A|SPTBN4_ENST00000595535.1_Silent_p.A1258A|SPTBN4_ENST00000392025.1_5'Flank			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1258					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCAGGTGGCCGTGCAGGCTG	0.632																																							0											0													61.0	51.0	54.0					19																	41029463		2203	4300	6503	SO:0001819	synonymous_variant	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3774C>G	19.37:g.41029463C>G			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A1258	ENST00000352632.3	37	c.3774	CCDS12559.1	19																																																																																			0	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	27	91	0	0.00	0	0	C		0	0		41029463	1	no_errors	ENST00000352632	ensembl	human	known	74_37	silent	31	70	22.5	17.65	9	15	SNP	0.997	G
TTLL10	254173	genome.wustl.edu	37	1	1111234	1111235	+	Intron	INS	-	-	GA			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr1:1111234_1111235insGA	ENST00000379290.1	+	3	146				TTLL10_ENST00000379289.1_Intron|TTLL10-AS1_ENST00000379317.1_RNA			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGTGCCGGTGGAGAGGCTGCT	0.688																																							0											0																																										SO:0001627	intron_variant	0			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.-28+1365->GA	1.37:g.1111237_1111238dupGA			B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	RNA	INS	0	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			0	0		0.688	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	protein_coding	OTTHUMT00000002421.3	52	6	1.89	0.00	1	0	0	NM_153254	0	0		1111235	-1	no_errors	ENST00000379317	ensembl	human	known	74_37	rna	26	10	13.33	0.00	4	0	INS	0.928:0.920	GA
