#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_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_ORegAnno_bin	i_Start_position_hg18	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	T	T	C			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								8507	SO:0001628	intergenic_variant	4514																															Unknown.37:g.0T>C			8507		Silent	SNP	HMMPfam_ATP-synt_8	p.Y47		37	c.141		MT																																																																																			-	HMMPfam_ATP-synt_8	0	0					MT-CO3			T			8507	+1	no_errors	ENST00000361851	ensembl	human	known	54_36p	silent	SNP	NULL	C
TUBB8P12	260334	genome.wustl.edu	37	18	48209	48209	+	Silent	SNP	C	C	T	rs201988417	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr18:48209C>T	ENST00000573909.1	-	3	946	c.414G>A	c.(412-414)tcG>tcA	p.S138S	RP11-683L23.1_ENST00000594555.1_5'UTR|RP11-683L23.1_ENST00000308911.6_Silent_p.S172S																							ACACCTTGGGCGAGGGCAGGA	0.557																																																0			18																																								38209	SO:0001819	synonymous_variant	0																														ENST00000573909.1:c.414G>A	18.37:g.48209C>T			38209		Silent	SNP	PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C	p.S172	ENST00000573909.1	37	c.516		18																																																																																			-	superfamily_Tubulin_FtsZ,HMMPfam_Tubulin		0.557	RP11-683L23.1-002	PUTATIVE	not_best_in_genome_evidence|basic	protein_coding	uc010djz.1	protein_coding	OTTHUMT00000439819.1	C			38209	-1	no_errors	ENST00000308911	ensembl	human	known	54_36p	silent	SNP	1.000	T
CRIPAK	285464	genome.wustl.edu	37	4	1388429	1388429	+	Missense_Mutation	SNP	G	G	A	rs79298048	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr4:1388429G>A	ENST00000324803.4	+	1	3090	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	44					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGGAGTGCCCGCCTGCTCACA	0.662													N|||	944	0.188498	0.062	0.2853	5008	,	,		16920	0.0536		0.3797	False		,,,				2504	0.2331															0			4						G	THR/ALA	508,3898		29,450,1724	219.0	210.0	213.0		130	-1.5	0.0	4	dbSNP_131	213	3442,5158		673,2096,1531	no	missense	CRIPAK	NM_175918.3	58	702,2546,3255	AA,AG,GG		40.0233,11.5297,30.3706	benign	44/447	1388429	3950,9056	2203	4300	6503	1378429	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.130G>A	4.37:g.1388429G>A	ENSP00000323978:p.Ala44Thr		1378429	Q8NB03	Missense_Mutation	SNP	HMMSmart_PostSET	p.A44T	ENST00000324803.4	37	c.130	CCDS3349.1	4	438	0.20054945054945056	28	0.056910569105691054	99	0.27348066298342544	38	0.06643356643356643	273	0.36015831134564646	-	6.138	0.393672	0.11638	0.115297	0.400233	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.24350	1.86	1.11	-1.54	0.08584	Post-SET domain (1);	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	P	0.39748	0.686	B	0.17722	0.019	T	0.47484	-0.9114	8	0.36615	T	0.2	.	3.7735	0.08650	0.1991:0.2527:0.5481:0.0	.	44	Q8N1N5	CRPAK_HUMAN	T	44;37	ENSP00000323978:A44T	ENSP00000323978:A44T	A	+	1	0	CRIPAK	1378429	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.619000	0.05572	-0.466000	0.06943	0.413000	0.27773	GCC	-	HMMSmart_PostSET		0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIPAK	protein_coding	OTTHUMT00000241607.2	G	NM_175918		1378429	+1	no_errors	NM_175918	genbank	human	validated	54_36p	missense	SNP	0.002	A
RSPH10B	222967	genome.wustl.edu	37	7	6005323	6005323	+	Missense_Mutation	SNP	C	C	T	rs200962894	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr7:6005323C>T	ENST00000405415.1	-	3	661	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RSPH10B_ENST00000535104.1_5'Flank|RSPH10B_ENST00000404406.1_Missense_Mutation_p.R92H|RSPH10B_ENST00000441023.2_Missense_Mutation_p.R92H|RSPH10B_ENST00000337579.3_Missense_Mutation_p.R92H			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	92										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		ATACAGCCCACGAACCTTTTC	0.438													C|||	294	0.0587061	0.0166	0.121	5008	,	,		13170	0.0149		0.1362	False		,,,				2504	0.0368															0			7											4.0	4.0	4.0					7																	6005323		1653	3655	5308	5971849	SO:0001583	missense	222967				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.275G>A	7.37:g.6005323C>T	ENSP00000385443:p.Arg92His		5971849	A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	HMMPfam_MORN,superfamily_SSF82185,HMMSmart_MORN	p.R92H	ENST00000405415.1	37	c.275	CCDS34598.1	7	104	0.047619047619047616	9	0.018292682926829267	29	0.08011049723756906	2	0.0034965034965034965	64	0.08443271767810026	C	4.777	0.144454	0.09134	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.73	0.597	0.17504	.	0.588391	0.17861	N	0.159518	T	0.01156	0.0038	N	0.21508	0.67	0.09310	N	1	B	0.26876	0.162	B	0.24394	0.053	T	0.05903	-1.0857	10	0.42905	T	0.14	.	5.1232	0.14871	0.0:0.4291:0.1466:0.4243	.	92	P0C881	R10B1_HUMAN	H	92	ENSP00000385443:R92H;ENSP00000384097:R92H;ENSP00000338556:R92H;ENSP00000400988:R92H	ENSP00000338556:R92H	R	-	2	0	RSPH10B	5971849	0.011000	0.17503	0.159000	0.22649	0.202000	0.24057	0.078000	0.14761	0.040000	0.15660	0.561000	0.74099	CGT	-	HMMPfam_MORN,superfamily_SSF82185		0.438	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B	protein_coding	OTTHUMT00000325465.2	C	NM_173565		5971849	-1	no_errors	NM_173565	genbank	human	validated	54_36p	missense	SNP	0.739	T
RSPH10B2	728194	genome.wustl.edu	37	7	6798735	6798735	+	Missense_Mutation	SNP	G	G	A	rs199536223		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr7:6798735G>A	ENST00000403107.1	+	3	662	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RSPH10B2_ENST00000433859.2_Missense_Mutation_p.R92H|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.R92H|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.R92H			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	92										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GAAAAGGTTCGTGGGCTGTAT	0.438																																																0			7						G	HIS/ARG	8,3516		0,8,1754	5.0	5.0	5.0		275	1.3	0.9	7		5	125,7477		0,125,3676	no	missense	RSPH10B2	NM_001099697.1	29	0,133,5430	AA,AG,GG		1.6443,0.227,1.1954	benign	92/871	6798735	133,10993	1762	3801	5563	6765260	SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.275G>A	7.37:g.6798735G>A	ENSP00000384766:p.Arg92His		6765260	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698	p.R92H	ENST00000403107.1	37	c.275	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	G	4.629	0.116979	0.08881	0.00227	0.016443	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.21	1.33	0.21861	.	0.588391	0.17861	N	0.159518	T	0.12902	0.0313	N	0.21583	0.68	0.24340	N	0.994965	B	0.23316	0.083	B	0.22386	0.039	T	0.10823	-1.0613	10	0.45353	T	0.12	.	5.6641	0.17684	0.3696:0.0:0.6304:0.0	.	92	B2RC85	R10B2_HUMAN	H	92	ENSP00000384766:R92H;ENSP00000386102:R92H;ENSP00000297186:R92H;ENSP00000416710:R92H	ENSP00000297186:R92H	R	+	2	0	RSPH10B2	6765260	0.097000	0.21791	0.863000	0.33907	0.273000	0.26683	0.336000	0.19823	0.198000	0.20407	0.398000	0.26397	CGT	-	HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain		0.438	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	protein_coding	OTTHUMT00000324184.4	G	NM_001099697		6765260	+1	no_errors	NM_001099697	genbank	human	provisional	54_36p	missense	SNP	0.623	A
DNAH2	146754	genome.wustl.edu	37	17	7640394	7640394	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr17:7640394C>T	ENST00000572933.1	+	8	2448	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R330C|DNAH2_ENST00000570791.1_Missense_Mutation_p.R330C|DNAH2_ENST00000082259.3_Missense_Mutation_p.R330C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	330	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGATGGCTCTCGTCAAGCACA	0.403																																																0			17											108.0	98.0	101.0					17																	7640394		2203	4300	6503	7581119	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.988C>T	17.37:g.7640394C>T	ENSP00000458355:p.Arg330Cys		7581119	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy	p.R330C	ENST00000572933.1	37	c.988	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173587	0.21704	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55930	0.49;0.49	5.8	-1.73	0.08081	Dynein heavy chain, domain-1 (1);	3.209450	0.00815	N	0.001525	T	0.36799	0.0980	L	0.29908	0.895	0.09310	N	1	B;B	0.29646	0.001;0.253	B;B	0.26310	0.003;0.068	T	0.14254	-1.0479	10	0.56958	D	0.05	.	1.0803	0.01641	0.2192:0.2403:0.3226:0.2179	.	330;330	Q9P225;Q9P225-3	DYH2_HUMAN;.	C	330	ENSP00000373825:R330C;ENSP00000082259:R330C	ENSP00000082259:R330C	R	+	1	0	DNAH2	7581119	0.000000	0.05858	0.001000	0.08648	0.751000	0.42716	-0.878000	0.04192	-0.505000	0.06568	-0.844000	0.03045	CGT	-	HMMPfam_DHC_N1		0.403	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	C	NM_020877		7581119	+1	no_errors	NM_020877	genbank	human	validated	54_36p	missense	SNP	0.000	T
OR2Z1	284383	genome.wustl.edu	37	19	8841588	8841588	+	Silent	SNP	C	C	G	rs147384704	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr19:8841588C>G	ENST00000324060.2	+	1	273	c.198C>G	c.(196-198)ctC>ctG	p.L66L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCAGCCAGCTCTCCCTGTTTG	0.552													C|||	38	0.00758786	0.0008	0.0086	5008	,	,		21028	0.001		0.0229	False		,,,				2504	0.0072															0			19						C		37,4369	41.6+/-74.8	0,37,2166	148.0	131.0	137.0		198	0.6	0.9	19	dbSNP_134	137	244,8356	98.1+/-159.7	5,234,4061	no	coding-synonymous	OR2Z1	NM_001004699.1		5,271,6227	GG,GC,CC		2.8372,0.8398,2.1605		66/315	8841588	281,12725	2203	4300	6503	8702588	SO:0001819	synonymous_variant	284383			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.198C>G	19.37:g.8841588C>G			8702588	B9EH50|Q6IFK0|Q96R25	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L66	ENST00000324060.2	37	c.198	CCDS32895.1	19																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	protein_coding	OTTHUMT00000459954.1	C			8702588	+1	no_errors	NM_001004699	genbank	human	provisional	54_36p	silent	SNP	0.981	G
RP1L1	94137	genome.wustl.edu	37	8	10467604	10467604	+	Missense_Mutation	SNP	C	C	A	rs74366179		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr8:10467604C>A	ENST00000382483.3	-	4	4227	c.4004G>T	c.(4003-4005)gGg>gTg	p.G1335V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1351	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		G -> R (in allele RP1L1-2 and allele RP1L1-3; dbSNP:rs61503212).|Missing (in allele RP1L1-1).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		taactgcaccccctcttcttg	0.463																																																0			8						C	VAL/GLY	516,3388		31,454,1467	118.0	115.0	116.0		4004	-0.4	0.0	8	dbSNP_131	116	1257,7009		110,1037,2986	yes	missense	RP1L1	NM_178857.5	109	141,1491,4453	AA,AC,CC		15.2069,13.2172,14.5686	probably-damaging	1335/2401	10467604	1773,10397	1952	4133	6085	10505014	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4004G>T	8.37:g.10467604C>A	ENSP00000371923:p.Gly1335Val		10505014	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	superfamily_SSF89837,HMMPfam_DCX,HMMPfam_S-antigen	p.G1335V	ENST00000382483.3	37	c.4004	CCDS43708.1	8	383	0.17536630036630035	73	0.1483739837398374	68	0.1878453038674033	127	0.22202797202797203	115	0.1517150395778364	c	10.70	1.422679	0.25639	0.132172	0.152069	ENSG00000183638	ENST00000382483	T	0.05855	3.38	2.91	-0.449	0.12226	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	5.999999999950489E-6	D	0.65815	0.995	P	0.53185	0.72	T	0.51060	-0.8753	8	0.72032	D	0.01	.	6.5765	0.22569	0.0:0.4875:0.0:0.5125	.	1335	A6NKC6	.	V	1335	ENSP00000371923:G1335V	ENSP00000371923:G1335V	G	-	2	0	RP1L1	10505014	0.000000	0.05858	0.004000	0.12327	0.297000	0.27493	-0.865000	0.04250	0.008000	0.14787	0.462000	0.41574	GGG	-	NULL		0.463	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	C			10505014	-1	no_errors	NM_178857	genbank	human	validated	54_36p	missense	SNP	0.003	A
SPIRE1	56907	genome.wustl.edu	37	18	12512507	12512507	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr18:12512507C>A	ENST00000409402.4	-	5	1020	c.753G>T	c.(751-753)atG>atT	p.M251I	SPIRE1_ENST00000309836.5_Missense_Mutation_p.M54I|SPIRE1_ENST00000383356.2_Missense_Mutation_p.M92I|SPIRE1_ENST00000453447.2_Missense_Mutation_p.M131I|SPIRE1_ENST00000410092.3_Missense_Mutation_p.M251I	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CGCTCTTTTCCATTTCTTGAA	0.333																																																0			18											117.0	111.0	113.0					18																	12512507		2203	4299	6502	12502507	SO:0001583	missense	56907			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.753G>T	18.37:g.12512507C>A	ENSP00000387266:p.Met251Ile		12502507		Missense_Mutation	SNP	superfamily_FYVE_PHD_ZnF	p.M92I	ENST00000409402.4	37	c.276	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833133	0.91036	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356;ENST00000449797	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	L	0.50333	1.59	0.58432	D	0.99999	B;B;P	0.48089	0.055;0.356;0.905	B;B;P	0.45610	0.117;0.138;0.487	T	0.05321	-1.0892	10	0.39692	T	0.17	-16.1209	19.7532	0.96277	0.0:1.0:0.0:0.0	.	251;54;251	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	I	131;251;251;54;92;131	ENSP00000407050:M131I;ENSP00000387266:M251I;ENSP00000387226:M251I;ENSP00000309661:M54I;ENSP00000372847:M92I;ENSP00000401392:M131I	ENSP00000309661:M54I	M	-	3	0	SPIRE1	12502507	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.144000	0.58057	2.734000	0.93682	0.650000	0.86243	ATG	-	NULL		0.333	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	protein_coding	OTTHUMT00000333109.2	C	XM_290818		12502507	-1	no_errors	NM_020148	genbank	human	validated	54_36p	missense	SNP	1.000	A
NBPF1	55672	genome.wustl.edu	37	1	16902856	16902856	+	Silent	SNP	C	C	T	rs200172966		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:16902856C>T	ENST00000430580.2	-	19	2912	c.2025G>A	c.(2023-2025)ccG>ccA	p.P675P	NBPF1_ENST00000432949.1_Silent_p.P133P|NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000287968.8_Silent_p.P40P	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	675						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGGCTCATCCGGAGTGAGGA	0.572																																																0			1						C		215,2807		0,215,1296	365.0	405.0	391.0		2025	-1.3	0.0	1	dbSNP_134	391	20,5398		0,20,2689	no	coding-synonymous	NBPF1	NM_017940.3		0,235,3985	TT,TC,CC		0.3691,7.1145,2.7844		675/1123	16902856	235,8205	1511	2709	4220	16775443	SO:0001819	synonymous_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2025G>A	1.37:g.16902856C>T			16775443	Q8N4E8|Q9C0H0	Silent	SNP	HMMPfam_DUF1220	p.P64	ENST00000430580.2	37	c.192		1																																																																																			-	NULL		0.572	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	protein_coding	OTTHUMT00000106436.3	C	NM_017940		16775443	-1	no_errors	ENST00000287968	ensembl	human	known	54_36p	silent	SNP	0.002	T
KCNS3	3790	genome.wustl.edu	37	2	18221915	18221915	+	Intron	SNP	G	G	A	rs139604126	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr2:18221915G>A	ENST00000465292.1	+	2	305				SNORA40_ENST00000391153.1_RNA			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3						energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGAACAATGAGTTCTGGGTTG	0.363													G|||	130	0.0259585	0.0832	0.0274	5008	,	,		17719	0.0		0.001	False		,,,				2504	0.0															0			2																																								18085396	SO:0001627	intron_variant	0			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000465292.1:c.305+122777G>A	2.37:g.18221915G>A			18085396	D6W520|O43651|Q4ZFY1|Q96B56	RNA	SNP	-	NULL	ENST00000465292.1	37	NULL		2																																																																																			-	-		0.363	KCNS3-005	KNOWN	basic	processed_transcript	ENSG00000212455	protein_coding	OTTHUMT00000323833.1	G	NM_002252		18085396	-1	no_errors	ENST00000391153	ensembl	human	novel	54_36p	rna	SNP	0.988	A
CELA3A	10136	genome.wustl.edu	37	1	22336283	22336283	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:22336283G>T	ENST00000290122.3	+	7	747	c.728G>T	c.(727-729)gGc>gTc	p.G243V	RNU6-776P_ENST00000364403.1_RNA|RN7SL186P_ENST00000466485.2_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	243	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTGCCTTTGGCTGCAACTTC	0.607																																																0			1											81.0	71.0	74.0					1																	22336283		2197	4300	6497	22208870	SO:0001583	missense	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.728G>T	1.37:g.22336283G>T	ENSP00000290122:p.Gly243Val		22208870	B1AQ53|Q9BRW4	Missense_Mutation	SNP	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.G243V	ENST00000290122.3	37	c.728	CCDS220.1	1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545416	0.45280	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	D;D	0.89810	-2.57;-2.57	3.65	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93067	0.7793	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93511	0.6853	9	0.66056	D	0.02	-46.6001	12.8948	0.58093	0.0:0.0:1.0:0.0	.	243	P09093	CEL3A_HUMAN	V	243;51	ENSP00000290122:G243V;ENSP00000383130:G51V	ENSP00000290122:G243V	G	+	2	0	CELA3A	22208870	1.000000	0.71417	0.979000	0.43373	0.021000	0.10359	7.374000	0.79633	1.856000	0.53863	0.455000	0.32223	GGC	-	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin		0.607	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELA3A	protein_coding	OTTHUMT00000007791.1	G	NM_005747		22208870	+1	no_errors	NM_005747	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CHMP7	91782	genome.wustl.edu	37	8	23116191	23116191	+	Intron	SNP	A	A	G	rs142314412	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr8:23116191A>G	ENST00000397677.1	+	8	1608				CHMP7_ENST00000520102.1_Intron|CHMP7_ENST00000313219.7_Intron	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7						endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACAATATTGTATGTATTTTGC	0.443													A|||	21	0.00419329	0.0	0.0058	5008	,	,		23265	0.0		0.0169	False		,,,				2504	0.0															0			8																																								23172136	SO:0001627	intron_variant	0			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.961-54A>G	8.37:g.23116191A>G			23172136	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	RNA	SNP	-	NULL	ENST00000397677.1	37	NULL	CCDS6040.1	8																																																																																			-	-		0.443	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100133627	protein_coding	OTTHUMT00000254717.1	A	NM_152272		23172136	+1	pseudogene	XR_037285	genbank	human	model	54_36p	rna	SNP	0.000	G
TAOK1	57551	genome.wustl.edu	37	17	27837924	27837924	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr17:27837924A>G	ENST00000261716.3	+	15	2137	c.1618A>G	c.(1618-1620)Att>Gtt	p.I540V	TAOK1_ENST00000536202.1_Missense_Mutation_p.I540V	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	540					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TCAGCAACATATTCAGGCCCA	0.318																																																0			17											69.0	73.0	72.0					17																	27837924		2202	4299	6501	24862050	SO:0001583	missense	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1618A>G	17.37:g.27837924A>G	ENSP00000261716:p.Ile540Val		24862050	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.I540V	ENST00000261716.3	37	c.1618	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743362	0.69418	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.51574	0.7;0.7	5.43	5.43	0.79202	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.78637	2.42	0.58432	D	0.999999	P;P;P	0.48998	0.609;0.918;0.506	B;P;B	0.49332	0.342;0.607;0.292	T	0.65352	-0.6189	10	0.54805	T	0.06	.	15.4858	0.75564	1.0:0.0:0.0:0.0	.	540;366;540	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	V	540	ENSP00000261716:I540V;ENSP00000438819:I540V	ENSP00000261716:I540V	I	+	1	0	TAOK1	24862050	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.334000	0.96470	2.068000	0.61886	0.383000	0.25322	ATT	-	superfamily_Protein kinase-like (PK-like)		0.318	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	protein_coding	OTTHUMT00000447790.1	A	NM_020791		24862050	+1	no_errors	NM_020791	genbank	human	validated	54_36p	missense	SNP	1.000	G
GPR113	165082	genome.wustl.edu	37	2	26534454	26534454	+	Silent	SNP	G	G	A	rs114938027	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr2:26534454G>A	ENST00000311519.1	-	11	2141	c.2142C>T	c.(2140-2142)caC>caT	p.H714H	GPR113_ENST00000333478.6_Silent_p.H515H|GPR113_ENST00000541401.1_Silent_p.H317H|GPR113_ENST00000421160.2_Silent_p.H645H|GPR113_ENST00000459892.1_5'UTR	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	714	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGACACAGTGAGGGGAAC	0.602													G|||	25	0.00499201	0.0	0.013	5008	,	,		18624	0.0		0.0149	False		,,,				2504	0.001															0			2						G	,,	14,4392	21.2+/-45.6	0,14,2189	70.0	72.0	72.0		2142,1935,1545	1.9	1.0	2	dbSNP_132	72	149,8451	72.6+/-135.2	1,147,4152	no	coding-synonymous,coding-synonymous,coding-synonymous	GPR113	NM_001145168.1,NM_001145169.1,NM_153835.3	,,	1,161,6341	AA,AG,GG		1.7326,0.3177,1.2533	,,	714/1080,645/998,515/874	26534454	163,12843	2203	4300	6503	26387958	SO:0001819	synonymous_variant	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2142C>T	2.37:g.26534454G>A			26387958	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.H515	ENST00000311519.1	37	c.1545	CCDS46239.1	2																																																																																			-	HMMPfam_GPS,HMMSmart_GPS		0.602	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	protein_coding	OTTHUMT00000316892.1	G	NM_153835		26387958	-1	no_errors	NM_153835	genbank	human	validated	54_36p	silent	SNP	0.502	A
KDF1	126695	genome.wustl.edu	37	1	27277943	27277943	+	Missense_Mutation	SNP	C	C	T	rs150297466		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:27277943C>T	ENST00000320567.5	-	2	1017	c.929G>A	c.(928-930)cGt>cAt	p.R310H		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		310					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGCGAGCACGGCTCTTTCG	0.622																																																0			1						C	HIS/ARG	0,4406		0,0,2203	46.0	45.0	45.0		929	5.5	0.9	1	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf172	NM_152365.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	310/399	27277943	1,13005	2203	4300	6503	27150530	SO:0001583	missense	126695																														ENST00000320567.5:c.929G>A	1.37:g.27277943C>T	ENSP00000319179:p.Arg310His		27150530	Q5QP32|Q8N0S7	Missense_Mutation	SNP	NULL	p.R310H	ENST00000320567.5	37	c.929	CCDS293.1	1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853214	0.71719	0.0	1.16E-4	ENSG00000175707	ENST00000320567	T	0.36157	1.27	5.5	5.5	0.81552	.	0.141742	0.44285	D	0.000464	T	0.43700	0.1259	L	0.29908	0.895	0.48395	D	0.999644	D	0.69078	0.997	P	0.53861	0.736	T	0.39761	-0.9598	10	0.72032	D	0.01	.	19.397	0.94611	0.0:1.0:0.0:0.0	.	310	Q8NAX2	CA172_HUMAN	H	310	ENSP00000319179:R310H	ENSP00000319179:R310H	R	-	2	0	C1orf172	27150530	.	.	0.886000	0.34754	0.552000	0.35366	.	.	2.594000	0.87642	0.555000	0.69702	CGT	-	NULL		0.622	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf172	protein_coding	OTTHUMT00000012340.1	C			27150530	-1	no_errors	NM_152365	genbank	human	predicted	54_36p	missense	SNP	0.905	T
NPIPB11	728888	genome.wustl.edu	37	16	29394552	29394552	+	Silent	SNP	G	G	T	rs145966436		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr16:29394552G>T	ENST00000524087.1	-	8	1775	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	567	Pro-rich.					integral component of membrane (GO:0016021)											AGGGTGGAAGGGGAGTGAGCT	0.542																																																0			16																																								29302053	SO:0001819	synonymous_variant	728888					16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.1701C>A	16.37:g.29394552G>T			29302053		RNA	SNP	-	NULL	ENST00000524087.1	37	NULL		16																																																																																			-	-		0.542	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC728888	protein_coding	OTTHUMT00000374094.1	G	XM_002343430		29302053	-1	no_errors	XR_015889	genbank	human	model	54_36p	rna	SNP	0.000	T
DEFB118	117285	genome.wustl.edu	37	20	29960791	29960791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr20:29960791C>T	ENST00000253381.2	+	2	223	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	64					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACCACAGGCGAGTTCCTGC	0.438																																																0			20											152.0	134.0	140.0					20																	29960791		2203	4300	6503	29424452	SO:0001587	stop_gained	117285			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.190C>T	20.37:g.29960791C>T	ENSP00000253381:p.Arg64*		29424452	Q17RC4|Q8N691|Q9NUH0	Nonsense_Mutation	SNP	NULL	p.R64*	ENST00000253381.2	37	c.190	CCDS13177.1	20	.	.	.	.	.	.	.	.	.	.	C	9.140	1.013563	0.19277	.	.	ENSG00000131068	ENST00000253381	.	.	.	3.43	-6.22	0.02058	.	10.118000	0.00357	N	0.000026	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5569	1.8142	0.03097	0.1278:0.2744:0.3591:0.2388	.	.	.	.	X	64	.	ENSP00000253381:R64X	R	+	1	2	DEFB118	29424452	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.214000	0.09292	-1.399000	0.02063	-0.181000	0.13052	CGA	-	NULL		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB118	protein_coding	OTTHUMT00000078501.2	C	NM_054112		29424452	+1	no_errors	NM_054112	genbank	human	provisional	54_36p	nonsense	SNP	0.000	T
SEZ6L2	26470	genome.wustl.edu	37	16	29899021	29899021	+	Missense_Mutation	SNP	C	C	T	rs117448844	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr16:29899021C>T	ENST00000308713.5	-	7	1684	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R316H|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R272H|SEZ6L2_ENST00000562159.1_5'Flank|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R342H	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	386	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGCAGCCGGCGCCCCTCAGC	0.637													C|||	6	0.00119808	0.0	0.0043	5008	,	,		15751	0.0		0.003	False		,,,				2504	0.0															0			16						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	4,4390	8.1+/-20.4	0,4,2193	78.0	72.0	74.0		947,815,947,1157	5.7	1.0	16	dbSNP_132	74	26,8574	19.8+/-62.0	0,26,4274	yes	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	29,29,29,29	0,30,6467	TT,TC,CC		0.3023,0.091,0.2309	benign,benign,benign,benign	316/841,272/810,316/854,386/911	29899021	30,12964	2197	4300	6497	29806522	SO:0001583	missense	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1157G>A	16.37:g.29899021C>T	ENSP00000312550:p.Arg386His		29806522	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB	p.R386H	ENST00000308713.5	37	c.1157	CCDS10659.1	16	4	0.0018315018315018315	0	0.0	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	C	21.9	4.221861	0.79464	9.1E-4	0.003023	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.72	5.72	0.89469	CUB (4);	0.000000	0.56097	D	0.000031	T	0.13798	0.0334	N	0.02296	-0.605	0.35617	D	0.809155	B;B;B;B;B;B	0.24963	0.039;0.07;0.07;0.115;0.07;0.115	B;B;B;B;B;B	0.14023	0.01;0.003;0.002;0.006;0.003;0.006	T	0.30475	-0.9977	10	0.15066	T	0.55	.	8.9111	0.35555	0.0:0.8417:0.0:0.1583	.	342;386;272;316;386;316	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	H	316;386;272;342	ENSP00000310206:R316H;ENSP00000312550:R386H;ENSP00000319215:R272H;ENSP00000439412:R342H	ENSP00000312550:R386H	R	-	2	0	SEZ6L2	29806522	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.553000	0.67287	2.720000	0.93068	0.555000	0.69702	CGC	-	superfamily_Spermadhesin CUB domain,HMMSmart_SM00042		0.637	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	protein_coding	OTTHUMT00000255154.2	C	NM_012410		29806522	-1	no_errors	NM_201575	genbank	human	validated	54_36p	missense	SNP	1.000	T
STRN3	29966	genome.wustl.edu	37	14	31416427	31416427	+	Silent	SNP	T	T	C			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr14:31416427T>C	ENST00000357479.5	-	5	781	c.585A>G	c.(583-585)gtA>gtG	p.V195V	STRN3_ENST00000355683.5_Silent_p.V195V	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	195					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GCTGAGACCGTACATCTAATA	0.348																																																0			14											147.0	142.0	144.0					14																	31416427		2203	4300	6503	30486178	SO:0001819	synonymous_variant	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.585A>G	14.37:g.31416427T>C			30486178	A2RTX7|A6NHZ7|Q9NRA5	Silent	SNP	HMMPfam_Striatin,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.V195	ENST00000357479.5	37	c.585	CCDS41938.1	14																																																																																			-	HMMPfam_Striatin		0.348	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STRN3	protein_coding	OTTHUMT00000409713.1	T	NM_014574		30486178	-1	no_errors	NM_001083893	genbank	human	validated	54_36p	silent	SNP	0.996	C
ASXL1	171023	genome.wustl.edu	37	20	31024450	31024450	+	Missense_Mutation	SNP	C	C	T	rs148144203		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr20:31024450C>T	ENST00000375687.4	+	13	4359	c.3935C>T	c.(3934-3936)gCa>gTa	p.A1312V	ASXL1_ENST00000306058.5_Missense_Mutation_p.A1307V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1312					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A1312V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTGGCTGCAACCCTTCAG	0.572			"""F, N, Mis"""		"""MDS, CMML"""								C|||	1	0.000199681	0.0	0.0014	5008	,	,		18085	0.0		0.0	False		,,,				2504	0.0						Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20						C	VAL/ALA	0,4406		0,0,2203	52.0	52.0	52.0		3935	3.6	0.1	20	dbSNP_134	52	14,8586	9.8+/-36.6	0,14,4286	yes	missense	ASXL1	NM_015338.5	64	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	benign	1312/1542	31024450	14,12992	2203	4300	6503	30488111	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3935C>T	20.37:g.31024450C>T	ENSP00000364839:p.Ala1312Val		30488111	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.A1312V	ENST00000375687.4	37	c.3935	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	3.458	-0.110577	0.06924	0.0	0.001628	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.13307	2.6;2.6	4.56	3.62	0.41486	.	0.311519	0.34959	N	0.003551	T	0.09774	0.0240	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.024;0.006	B;B	0.12156	0.007;0.007	T	0.18935	-1.0321	10	0.41790	T	0.15	-0.9415	8.4412	0.32816	0.0:0.8058:0.0:0.1942	.	1307;1312	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	V	1312;1312;1312;1233;1307	ENSP00000364839:A1312V;ENSP00000305119:A1307V	ENSP00000305119:A1307V	A	+	2	0	ASXL1	30488111	0.002000	0.14202	0.084000	0.20598	0.960000	0.62799	1.375000	0.34295	1.531000	0.49152	0.561000	0.74099	GCA	-	NULL		0.572	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	C	NM_015338		30488111	+1	no_errors	NM_015338	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
TUBB	203068	genome.wustl.edu	37	6	30691286	30691286	+	Silent	SNP	T	T	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr6:30691286T>A	ENST00000327892.8	+	4	753	c.447T>A	c.(445-447)acT>acA	p.T149T	TUBB_ENST00000435534.1_Intron|TUBB_ENST00000396384.1_Silent_p.T77T|TUBB_ENST00000396389.1_Silent_p.T131T|TUBB_ENST00000330914.3_Silent_p.T77T|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	149					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GAATGGGCACTCTCCTTATCA	0.572																																																0			6											70.0	68.0	69.0					6																	30691286		2203	4300	6503	30799265	SO:0001819	synonymous_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.447T>A	6.37:g.30691286T>A			30799265	P05218|Q8WUC1|Q9CY33	Silent	SNP	PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C	p.T149	ENST00000327892.8	37	c.447	CCDS4687.1	6																																																																																			-	superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin		0.572	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	protein_coding	OTTHUMT00000076074.2	T	NM_178014		30799265	+1	no_errors	NM_178014	genbank	human	provisional	54_36p	silent	SNP	1.000	A
DHRS11	79154	genome.wustl.edu	37	17	34958598	34958598	+	IGR	SNP	G	G	C	rs78943308	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr17:34958598G>C	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Missense_Mutation_p.C120S|MRM1_ENST00000585770.1_5'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CAGGGTGTCTGCATGGAGGTG	0.682													G|||	355	0.0708866	0.0038	0.0533	5008	,	,		15695	0.1627		0.0785	False		,,,				2504	0.0716															0			17						G	SER/CYS	37,4343		0,37,2153	20.0	23.0	22.0		359	4.9	1.0	17	dbSNP_131	22	388,8156		8,372,3892	yes	missense	MRM1	NM_024864.3	112	8,409,6045	CC,CG,GG		4.5412,0.8447,3.2885	probably-damaging	120/354	34958598	425,12499	2190	4272	6462	32032711	SO:0001628	intergenic_variant	79922				CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958598G>C			32032711	B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	superfamily_L30e-like,HMMPfam_SpoU_sub_bind,superfamily_alpha/beta knot,HMMPfam_SpoU_methylase	p.C120S	ENST00000251312.5	37	c.359	CCDS11315.2	17	166	0.076007326007326	3	0.006097560975609756	16	0.04419889502762431	87	0.1520979020979021	60	0.079155672823219	G	28.4	4.914261	0.92178	0.008447	0.045412	ENSG00000129282	ENST00000250156	T	0.30714	1.52	4.9	4.9	0.64082	RNA 2-O ribose methyltransferase, substrate binding (2);	0.000000	0.85682	D	0.000000	T	0.00384	0.0012	M	0.71581	2.175	0.80722	D	1	D	0.55385	0.971	P	0.62089	0.898	T	0.00045	-1.2216	10	0.87932	D	0	-16.6239	15.6051	0.76664	0.0:0.0:1.0:0.0	.	120	Q6IN84	MRM1_HUMAN	S	120	ENSP00000250156:C120S	ENSP00000250156:C120S	C	+	2	0	MRM1	32032711	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.332000	0.90024	2.423000	0.82170	0.555000	0.69702	TGC	-	superfamily_L30e-like,HMMPfam_SpoU_sub_bind,superfamily_alpha/beta knot		0.682	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRM1	protein_coding	OTTHUMT00000256681.2	G	NM_024308		32032711	+1	no_errors	NM_024864	genbank	human	validated	54_36p	missense	SNP	1.000	C
GJD4	219770	genome.wustl.edu	37	10	35896700	35896700	+	Missense_Mutation	SNP	C	C	T	rs76906304	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr10:35896700C>T	ENST00000321660.1	+	2	417	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	87					cell communication (GO:0007154)|regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014717)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTGCGTCCTCCTCCCCTCCGC	0.706													C|||	33	0.00658946	0.0	0.013	5008	,	,		11126	0.0		0.0119	False		,,,				2504	0.0123															0			10						C	PHE/LEU	16,4390	21.2+/-45.6	0,16,2187	148.0	122.0	131.0		259	4.3	0.1	10	dbSNP_131	131	148,8452	70.7+/-133.2	1,146,4153	yes	missense	GJD4	NM_153368.2	22	1,162,6340	TT,TC,CC		1.7209,0.3631,1.261	probably-damaging	87/371	35896700	164,12842	2203	4300	6503	35936706	SO:0001583	missense	219770			AJ414564	CCDS7191.1	10p11.22	2007-11-27			ENSG00000177291	ENSG00000177291		"""Ion channels / Gap junction proteins (connexins)"""	23296	protein-coding gene	gene with protein product	"""connexin 40.1"""	611922				12477932	Standard	NM_153368		Approved	CX40.1, FLJ90023	uc001iyy.1	Q96KN9	OTTHUMG00000017957	ENST00000321660.1:c.259C>T	10.37:g.35896700C>T	ENSP00000315070:p.Leu87Phe		35936706	Q8N2R7	Missense_Mutation	SNP	HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2	p.L87F	ENST00000321660.1	37	c.259	CCDS7191.1	10	12	0.005494505494505495	0	0.0	5	0.013812154696132596	0	0.0	7	0.009234828496042216	C	15.31	2.795160	0.50208	0.003631	0.017209	ENSG00000177291	ENST00000321660	D	0.99129	-5.46	6.11	4.27	0.50696	Connexin, N-terminal (1);	0.215706	0.41938	N	0.000797	D	0.97228	0.9094	L	0.56769	1.78	0.51233	D	0.999916	D	0.52996	0.957	P	0.55087	0.768	D	0.93664	0.6984	10	0.62326	D	0.03	.	13.6296	0.62188	0.0:0.8795:0.0:0.1205	.	87	Q96KN9	CXD4_HUMAN	F	87	ENSP00000315070:L87F	ENSP00000315070:L87F	L	+	1	0	GJD4	35936706	0.680000	0.27605	0.144000	0.22314	0.036000	0.12997	1.246000	0.32803	0.916000	0.36871	0.655000	0.94253	CTC	-	HMMPfam_Connexin		0.706	GJD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD4	protein_coding	OTTHUMT00000047576.1	C	NM_153368		35936706	+1	no_errors	NM_153368	genbank	human	validated	54_36p	missense	SNP	0.374	T
SOS1	6654	genome.wustl.edu	37	2	39213140	39213140	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr2:39213140G>A	ENST00000426016.1	-	24	3913	c.3827C>T	c.(3826-3828)cCa>cTa	p.P1276L	SOS1_ENST00000402219.2_Missense_Mutation_p.P1276L|SOS1_ENST00000395038.2_Missense_Mutation_p.P1261L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1276					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TGTCAATGGTGGTGATGGCAG	0.517									Noonan syndrome																																							0			2											227.0	200.0	209.0					2																	39213140		2203	4300	6503	39066644	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3827C>T	2.37:g.39213140G>A	ENSP00000387784:p.Pro1276Leu		39066644	A8K2G3|B4DXG2	Missense_Mutation	SNP	superfamily_Histone-fold,HMMPfam_Histone,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF	p.P1276L	ENST00000426016.1	37	c.3827	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048863	0.55110	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.76839	-1.05;-1.05;-1.03	5.15	5.15	0.70609	.	0.122334	0.56097	D	0.000033	D	0.82282	0.5003	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.75695	-0.3228	10	0.10377	T	0.69	.	18.8089	0.92050	0.0:0.0:1.0:0.0	.	1276	Q07889	SOS1_HUMAN	L	1276;1276;993;1261	ENSP00000387784:P1276L;ENSP00000384675:P1276L;ENSP00000378479:P1261L	ENSP00000378479:P1261L	P	-	2	0	SOS1	39066644	1.000000	0.71417	0.999000	0.59377	0.692000	0.40212	6.609000	0.74173	2.673000	0.90976	0.557000	0.71058	CCA	-	NULL		0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	protein_coding	OTTHUMT00000219948.3	G	NM_005633		39066644	-1	no_errors	NM_005633	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
IPO13	9670	genome.wustl.edu	37	1	44426856	44426856	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:44426856C>T	ENST00000372343.3	+	14	2928	c.2266C>T	c.(2266-2268)Cat>Tat	p.H756Y		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	756					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CATCTTTGCTCATGAGCCTGC	0.567																																																0			1											314.0	275.0	288.0					1																	44426856		2203	4300	6503	44199443	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2266C>T	1.37:g.44426856C>T	ENSP00000361418:p.His756Tyr		44199443	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	superfamily_ARM-type_fold,HMMPfam_IBN_N,HMMPfam_Xpo1	p.H756Y	ENST00000372343.3	37	c.2266	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	C	6.133	0.392795	0.11638	.	.	ENSG00000117408	ENST00000372343	T	0.66638	-0.22	5.33	5.33	0.75918	Armadillo-like helical (1);Armadillo-type fold (1);	0.160315	0.56097	D	0.000031	T	0.53190	0.1781	N	0.22421	0.69	0.80722	D	1	B	0.30439	0.279	B	0.28232	0.087	T	0.56245	-0.8011	10	0.59425	D	0.04	-19.7584	14.1029	0.65068	0.1501:0.8499:0.0:0.0	.	756	O94829	IPO13_HUMAN	Y	756	ENSP00000361418:H756Y	ENSP00000361418:H756Y	H	+	1	0	IPO13	44199443	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.220000	0.51207	2.775000	0.95449	0.655000	0.94253	CAT	-	superfamily_ARM-type_fold		0.567	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	protein_coding	OTTHUMT00000022846.1	C	NM_014652		44199443	+1	no_errors	NM_014652	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
LUC7L3	51747	genome.wustl.edu	37	17	48823168	48823168	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr17:48823168C>T	ENST00000505658.1	+	8	970	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	LUC7L3_ENST00000544170.1_Missense_Mutation_p.R185W|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R261W|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R261W			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	261	Arg/Ser-rich.|Glu-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						agaaaaagaacgggagagaga	0.398																																																0			17											24.0	26.0	26.0					17																	48823168		2194	4295	6489	46178167	SO:0001583	missense	51747				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.781C>T	17.37:g.48823168C>T	ENSP00000425092:p.Arg261Trp		46178167	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	HMMPfam_LUC7	p.R261W	ENST00000505658.1	37	c.781	CCDS11573.1	17	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495003	0.26774	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	T;T;T;T	0.36878	1.23;1.97;1.23;1.52	5.95	1.34	0.21922	.	0.071910	0.53938	D	0.000055	T	0.51346	0.1669	M	0.65975	2.015	0.47123	D	0.999325	D;D;D	0.69078	0.97;0.997;0.994	P;P;P	0.57548	0.758;0.823;0.758	T	0.60826	-0.7186	10	0.72032	D	0.01	-6.1546	15.8255	0.78703	0.6225:0.3775:0.0:0.0	.	185;261;261	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	W	261;261;261;185	ENSP00000425092:R261W;ENSP00000376919:R261W;ENSP00000240304:R261W;ENSP00000444253:R185W	ENSP00000240304:R261W	R	+	1	2	LUC7L3	46178167	1.000000	0.71417	0.940000	0.37924	0.163000	0.22366	1.399000	0.34566	0.383000	0.24910	-1.028000	0.02416	CGG	-	HMMPfam_LUC7		0.398	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROP	protein_coding	OTTHUMT00000368205.2	C	NM_016424		46178167	+1	no_errors	NM_006107	genbank	human	reviewed	54_36p	missense	SNP	0.980	T
FNDC3A	22862	genome.wustl.edu	37	13	49784555	49784555	+	IGR	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr13:49784555C>T	ENST00000492622.2	+	0	6286					NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A						fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCAGTGCTGTCATTCATAATA	0.423																																																0			13																																								48682556	SO:0001628	intergenic_variant	387924			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911		13.37:g.49784555C>T			48682556	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	RNA	SNP	-	NULL	ENST00000492622.2	37	NULL	CCDS41886.1	13																																																																																			-	-		0.423	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC387924	protein_coding	OTTHUMT00000354845.2	C	NM_014923		48682556	-1	pseudogene	XR_017443	genbank	human	model	54_36p	rna	SNP	0.951	T
NICN1	84276	genome.wustl.edu	37	3	49463700	49463700	+	Silent	SNP	C	C	T	rs114877151	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr3:49463700C>T	ENST00000273598.3	-	2	380	c.294G>A	c.(292-294)tcG>tcA	p.S98S	NICN1_ENST00000436744.2_Silent_p.S98S|NICN1-AS1_ENST00000424915.1_RNA|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	98						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTTGAACAGCGATACATACT	0.577													C|||	76	0.0151757	0.0015	0.0288	5008	,	,		18862	0.0129		0.0239	False		,,,				2504	0.0174															0			3						C		23,4383	29.9+/-59.1	0,23,2180	66.0	57.0	60.0		294	-3.2	1.0	3	dbSNP_132	60	299,8301	109.6+/-170.1	3,293,4004	no	coding-synonymous	NICN1	NM_032316.3		3,316,6184	TT,TC,CC		3.4767,0.522,2.4758		98/214	49463700	322,12684	2203	4300	6503	49438704	SO:0001819	synonymous_variant	84276			AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.294G>A	3.37:g.49463700C>T			49438704	Q8IZQ2	Silent	SNP	NULL	p.S98	ENST00000273598.3	37	c.294	CCDS2798.1	3																																																																																			-	NULL		0.577	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NICN1	protein_coding	OTTHUMT00000346224.3	C	NM_032316		49438704	-1	no_errors	NM_032316	genbank	human	reviewed	54_36p	silent	SNP	0.968	T
INTS6-AS1	100507398	genome.wustl.edu	37	13	52035430	52035430	+	RNA	SNP	C	C	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr13:52035430C>A	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|RPS4XP16_ENST00000595905.1_RNA					INTS6 antisense RNA 1																		CAAAAGACTGCCAAACAGAGC	0.398																																																0			13																																								50933431			220433			AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52035430C>A			50933431		RNA	SNP	-	NULL	ENST00000594959.1	37	NULL		13																																																																																			-	-		0.398	INTS6-AS1-006	KNOWN	basic	antisense	LOC220433	antisense	OTTHUMT00000462289.1	C			50933431	+1	pseudogene	XR_041057	genbank	human	model	54_36p	rna	SNP	1.000	A
STAB1	23166	genome.wustl.edu	37	3	52551010	52551010	+	Silent	SNP	C	C	T	rs79979130	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr3:52551010C>T	ENST00000321725.6	+	42	4450	c.4374C>T	c.(4372-4374)ccC>ccT	p.P1458P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1458	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGGTGGACCCCTGCGCCCACG	0.652													C|||	219	0.04373	0.0129	0.0893	5008	,	,		15664	0.0228		0.0905	False		,,,				2504	0.0266															0			3						C		84,4322	61.7+/-98.7	1,82,2120	44.0	49.0	47.0		4374	-0.5	1.0	3	dbSNP_132	47	687,7909	156.9+/-210.6	34,619,3645	yes	coding-synonymous	STAB1	NM_015136.2		35,701,5765	TT,TC,CC		7.9921,1.9065,5.9299		1458/2571	52551010	771,12231	2203	4298	6501	52526050	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4374C>T	3.37:g.52551010C>T			52526050	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,HMMSmart_SM00180,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_FAS1 domain,HMMSmart_SM00554,HMMPfam_Fasciclin,PatternScan_CYTOCHROME_P450,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_LAM_1,HMMPfam_Laminin_EGF,superfamily_Growth factor receptor domain,HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1	p.P1458	ENST00000321725.6	37	c.4374	CCDS33768.1	3																																																																																			-	superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181		0.652	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	protein_coding	OTTHUMT00000351380.2	C	NM_015136		52526050	+1	no_errors	NM_015136	genbank	human	reviewed	54_36p	silent	SNP	0.991	T
NUP62	23636	genome.wustl.edu	37	19	50412217	50412217	+	Missense_Mutation	SNP	C	C	G	rs1062798	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr19:50412217C>G	ENST00000596217.1	-	2	2735	c.848G>C	c.(847-849)aGc>aCc	p.S283T	NUP62_ENST00000422090.2_Missense_Mutation_p.S283T|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.S283T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.S283T|NUP62_ENST00000352066.3_Missense_Mutation_p.S283T|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	283	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.		S -> T (in dbSNP:rs1062798). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:1915414}.		carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		gctgctgctgctggtggtggt	0.627													C|||	1584	0.316294	0.2383	0.379	5008	,	,		15105	0.3938		0.3827	False		,,,				2504	0.229															0			19						C	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	997,3405		118,761,1322	31.0	29.0	30.0		848,848,848,848,848,	0.8	0.0	19	dbSNP_86	30	3113,5481		577,1959,1761	yes	missense,missense,missense,missense,missense,intron	NUP62,IL4I1	NM_001193357.1,NM_012346.4,NM_016553.4,NM_153718.3,NM_153719.3,NM_172374.1	58,58,58,58,58,	695,2720,3083	GG,GC,CC		36.2229,22.6488,31.6251	benign,benign,benign,benign,benign,	283/523,283/523,283/523,283/523,283/523,	50412217	4110,8886	2201	4297	6498	55104029	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.848G>C	19.37:g.50412217C>G	ENSP00000471191:p.Ser283Thr		55104029	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	HMMPfam_Nsp1_C	p.S283T	ENST00000596217.1	37	c.848	CCDS12788.1	19	763	0.34935897435897434	103	0.20934959349593496	134	0.3701657458563536	230	0.4020979020979021	296	0.39050131926121373	C	0.016	-1.533751	0.00951	0.226488	0.362229	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.36157	1.27;1.27;1.27	4.24	0.801	0.18679	Nucleoporin, NSP1-like, C-terminal (1);	1.330530	0.05670	N	0.588508	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45366	-0.9266	8	.	.	.	-2.1099	13.4683	0.61268	0.0:0.2452:0.7548:0.0	rs1062798;rs3203778;rs3745497;rs4009638;rs5828420;rs17844993;rs17857752;rs52814004	283	P37198	NUP62_HUMAN	T	283	ENSP00000305503:S283T;ENSP00000407331:S283T;ENSP00000387991:S283T	.	S	-	2	0	NUP62	55104029	0.050000	0.20438	0.000000	0.03702	0.004000	0.04260	1.221000	0.32503	0.190000	0.20209	-1.162000	0.01777	AGC	-	NULL		0.627	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	protein_coding	OTTHUMT00000464991.1	C	NM_153719		55104029	-1	no_errors	NM_012346	genbank	human	reviewed	54_36p	missense	SNP	0.018	G
RP11-866E20.3	0	genome.wustl.edu	37	18	57683799	57683799	+	lincRNA	SNP	G	G	A	rs141617629	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr18:57683799G>A	ENST00000585691.1	+	0	3524				RNU6-567P_ENST00000516746.1_RNA																							agctacttgggaggctaaggc	0.522													G|||	69	0.013778	0.0023	0.0317	5008	,	,		13885	0.0		0.0427	False		,,,				2504	0.001															0			18																																								55834779			728115																															18.37:g.57683799G>A			55834779		RNA	SNP	-	NULL	ENST00000585691.1	37	NULL		18																																																																																			-	-		0.522	RP11-866E20.3-001	KNOWN	basic	lincRNA	LOC728115	lincRNA	OTTHUMT00000449078.1	G			55834779	-1	pseudogene	XR_038858	genbank	human	model	54_36p	rna	SNP	0.072	A
PSMC5	5705	genome.wustl.edu	37	17	61908174	61908174	+	Silent	SNP	G	G	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr17:61908174G>A	ENST00000310144.6	+	7	866	c.558G>A	c.(556-558)gtG>gtA	p.V186V	PSMC5_ENST00000375812.4_Silent_p.V178V|PSMC5_ENST00000580864.1_Silent_p.V178V|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000581882.1_Silent_p.V178V	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	186	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGTAGGGAGTGCTGCTGTATG	0.537																																																0			17											86.0	75.0	79.0					17																	61908174		2203	4300	6503	59261906	SO:0001819	synonymous_variant	5705			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.558G>A	17.37:g.61908174G>A			59261906	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA	p.V186	ENST00000310144.6	37	c.558	CCDS11645.1	17																																																																																			-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA		0.537	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC5	protein_coding	OTTHUMT00000444404.1	G	NM_002805		59261906	+1	no_errors	NM_002805	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
NLRP4	147945	genome.wustl.edu	37	19	56372807	56372807	+	Missense_Mutation	SNP	G	G	A	rs143589259	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr19:56372807G>A	ENST00000301295.6	+	4	2334	c.1912G>A	c.(1912-1914)Ggg>Agg	p.G638R	NLRP4_ENST00000346986.5_Missense_Mutation_p.G638R|NLRP4_ENST00000587891.1_Missense_Mutation_p.G563R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	638					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CACCACCAGCGGGCACCTCAG	0.577													G|||	12	0.00239617	0.0015	0.0014	5008	,	,		20025	0.004		0.004	False		,,,				2504	0.001															0			19						G	ARG/GLY	5,4401	9.9+/-24.2	0,5,2198	109.0	89.0	96.0		1912	-3.3	0.0	19	dbSNP_134	96	53,8547	33.3+/-86.6	0,53,4247	yes	missense	NLRP4	NM_134444.4	125	0,58,6445	AA,AG,GG		0.6163,0.1135,0.4459	benign	638/995	56372807	58,12948	2203	4300	6503	61064619	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1912G>A	19.37:g.56372807G>A	ENSP00000301295:p.Gly638Arg		61064619	Q86W87|Q96AY6	Missense_Mutation	SNP	superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368	p.G638R	ENST00000301295.6	37	c.1912	CCDS12936.1	19	7	0.003205128205128205	2	0.0040650406504065045	1	0.0027624309392265192	2	0.0034965034965034965	2	0.002638522427440633	G	10.95	1.495846	0.26774	0.001135	0.006163	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.87809	-2.3;-2.3	4.49	-3.32	0.04973	.	.	.	.	.	T	0.62551	0.2437	N	0.08118	0	0.09310	N	1	B;D;P	0.55172	0.039;0.97;0.885	B;P;B	0.44673	0.019;0.457;0.137	T	0.63752	-0.6566	9	0.20046	T	0.44	.	4.5942	0.12322	0.3545:0.2922:0.3532:0.0	.	638;563;638	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	R	638	ENSP00000301295:G638R;ENSP00000344787:G638R	ENSP00000301295:G638R	G	+	1	0	NLRP4	61064619	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.797000	0.01749	-0.581000	0.05937	-0.136000	0.14681	GGG	-	superfamily_RNI-like,HMMSmart_SM00368		0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	G	NM_134444		61064619	+1	no_errors	NM_134444	genbank	human	validated	54_36p	missense	SNP	0.000	A
SYNE2	23224	genome.wustl.edu	37	14	64681123	64681123	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr14:64681123G>C	ENST00000344113.4	+	106	19480	c.19268G>C	c.(19267-19269)gGc>gCc	p.G6423A	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.G3057A|SYNE2_ENST00000358025.3_Missense_Mutation_p.G6423A|SYNE2_ENST00000458046.2_Missense_Mutation_p.G57A|SYNE2_ENST00000357395.3_Missense_Mutation_p.G2808A|SYNE2_ENST00000394768.2_Missense_Mutation_p.G2808A|SYNE2_ENST00000555022.1_Missense_Mutation_p.G301A|SYNE2_ENST00000554584.1_Missense_Mutation_p.G6365A|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000554805.1_Missense_Mutation_p.G206A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6423					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACCACACAGGCGACGTGGGG	0.642																																																0			14											52.0	51.0	51.0					14																	64681123		2203	4300	6503	63750876	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19268G>C	14.37:g.64681123G>C	ENSP00000341781:p.Gly6423Ala		63750876	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH	p.G6423A	ENST00000344113.4	37	c.19268	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293363	0.40594	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046	T;T;T;T;T;T;T;T;T	0.58652	0.68;4.03;0.71;0.32;4.08;4.03;3.76;3.27;2.91	5.27	5.27	0.74061	.	0.000000	0.50627	D	0.000102	T	0.71187	0.3310	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;0.974;0.997;0.991;0.999	D;D;D;P;P;D;D	0.97110	0.987;0.968;1.0;0.761;0.894;0.909;0.982	T	0.64841	-0.6312	10	0.25106	T	0.35	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	57;2808;57;811;6365;6423;6423	B4DND7;Q8WXH0-7;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	A	6423;2808;6423;6365;6371;3057;2808;301;206;57	ENSP00000350719:G6423A;ENSP00000349969:G2808A;ENSP00000341781:G6423A;ENSP00000452570:G6365A;ENSP00000450831:G3057A;ENSP00000378249:G2808A;ENSP00000451009:G301A;ENSP00000450605:G206A;ENSP00000391937:G57A	ENSP00000261678:G6371A	G	+	2	0	SYNE2	63750876	0.979000	0.34478	0.938000	0.37757	0.985000	0.73830	1.903000	0.39858	2.735000	0.93741	0.655000	0.94253	GGC	-	NULL		0.642	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	G	NM_182914		63750876	+1	no_errors	NM_182914	genbank	human	validated	54_36p	missense	SNP	0.487	C
CLEC18A	348174	genome.wustl.edu	37	16	69985383	69985383	+	Silent	SNP	G	G	A	rs4985466		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr16:69985383G>A	ENST00000288040.6	+	1	301	c.114G>A	c.(112-114)ccG>ccA	p.P38P	CLEC18A_ENST00000568461.1_Silent_p.P38P|CLEC18A_ENST00000449317.2_Silent_p.P38P|CLEC18A_ENST00000393701.2_Silent_p.P38P	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	38						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						AGCAGGCTCCGATGGCCGGAG	0.667																																																0			16											49.0	50.0	50.0					16																	69985383		1509	3170	4679	68542884	SO:0001819	synonymous_variant	348174			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"""C-type lectin domain containing"""	30388	protein-coding gene	gene with protein product	"""mannose receptor-like"""					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.114G>A	16.37:g.69985383G>A			68542884	A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Silent	SNP	superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1	p.P38	ENST00000288040.6	37	c.114	CCDS10886.1	16																																																																																			-	superfamily_PR-1-like		0.667	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18A	protein_coding	OTTHUMT00000268955.2	G	NM_182619		68542884	+1	no_errors	NM_182619	genbank	human	validated	54_36p	silent	SNP	0.003	A
TTC9	23508	genome.wustl.edu	37	14	71134379	71134379	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr14:71134379C>T	ENST00000256367.2	+	2	848	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	169										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GGCCCTTTACCGGTCTGGTGT	0.502																																																0			14											152.0	149.0	150.0					14																	71134379		1963	4148	6111	70204132	SO:0001583	missense	23508			D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.505C>T	14.37:g.71134379C>T	ENSP00000256367:p.Arg169Trp		70204132	Q86WT2	Missense_Mutation	SNP	HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1	p.R169W	ENST00000256367.2	37	c.505	CCDS45132.1	14	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953267	0.53293	.	.	ENSG00000133985	ENST00000256367	T	0.66638	-0.22	5.02	2.01	0.26516	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000005	D	0.85270	0.5658	H	0.94306	3.52	0.53005	D	0.999969	D	0.89917	1.0	D	0.97110	1.0	D	0.87648	0.2526	10	0.87932	D	0	-18.5558	13.474	0.61297	0.5641:0.4359:0.0:0.0	.	169	Q92623	TTC9A_HUMAN	W	169	ENSP00000256367:R169W	ENSP00000256367:R169W	R	+	1	2	TTC9	70204132	1.000000	0.71417	0.996000	0.52242	0.272000	0.26649	2.250000	0.43178	0.222000	0.20900	0.655000	0.94253	CGG	-	superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028		0.502	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC9	protein_coding	OTTHUMT00000417024.1	C	XM_027236		70204132	+1	no_errors	NM_015351	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ANKRD13C	81573	genome.wustl.edu	37	1	70742473	70742473	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:70742473C>T	ENST00000370944.4	-	10	1583	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.E389K	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	424					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GATATATATTCTTCCCATGTA	0.323																																																0			1											60.0	66.0	64.0					1																	70742473		2203	4299	6502	70515061	SO:0001583	missense	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1270G>A	1.37:g.70742473C>T	ENSP00000359982:p.Glu424Lys		70515061	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.E424K	ENST00000370944.4	37	c.1270	CCDS648.2	1	.	.	.	.	.	.	.	.	.	.	C	34	5.325229	0.95708	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.47869	0.83;0.83	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	M	0.90650	3.135	0.80722	D	1	D;D	0.60160	0.984;0.987	D;D	0.64877	0.915;0.93	T	0.77146	-0.2695	10	0.87932	D	0	-10.9939	18.2515	0.90005	0.0:1.0:0.0:0.0	.	389;424	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	K	424;389	ENSP00000359982:E424K;ENSP00000262346:E389K	ENSP00000262346:E389K	E	-	1	0	ANKRD13C	70515061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.074000	0.76791	2.564000	0.86499	0.563000	0.77884	GAA	-	NULL		0.323	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13C	protein_coding	OTTHUMT00000025903.1	C	NM_030816		70515061	-1	no_errors	NM_030816	genbank	human	validated	54_36p	missense	SNP	1.000	T
NAP1L3	4675	genome.wustl.edu	37	X	92927381	92927381	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chrX:92927381G>A	ENST00000373079.3	-	1	1186	c.923C>T	c.(922-924)cCt>cTt	p.P308L	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.P301L	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	308					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AATGCCTTTAGGGTCTTCTCT	0.428																																																0			X											66.0	62.0	63.0					X																	92927381		2203	4300	6503	92814037	SO:0001583	missense	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.923C>T	X.37:g.92927381G>A	ENSP00000362171:p.Pro308Leu		92814037	B2RCM0|O60788	Missense_Mutation	SNP	HMMPfam_NAP	p.P308L	ENST00000373079.3	37	c.923	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912020	0.33721	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.26223	1.75	3.51	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	L	0.45352	1.415	0.41652	D	0.989139	D	0.65815	0.995	D	0.64595	0.927	T	0.05937	-1.0855	10	0.42905	T	0.14	-6.9614	9.6622	0.39962	0.0:0.0:1.0:0.0	.	308	Q99457	NP1L3_HUMAN	L	308;301	ENSP00000362171:P308L	ENSP00000362171:P308L	P	-	2	0	NAP1L3	92814037	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	4.860000	0.62961	2.026000	0.59711	0.529000	0.55759	CCT	-	HMMPfam_NAP		0.428	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	protein_coding	OTTHUMT00000057449.1	G	NM_004538		92814037	-1	no_errors	NM_004538	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	12	94914949	94914949	+	IGR	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr12:94914949C>T								RN7SL483P (5413 upstream) : MIR5700 (40615 downstream)																							ATAACTTTGCCTCCTTGCATC	0.383																																																0			12																																								93439080	SO:0001628	intergenic_variant	400061																															12.37:g.94914949C>T			93439080		RNA	SNP	-	NULL		37	NULL		12																																																																																			-	-	0	0.383					LOC400061			C			93439080	-1	pseudogene	XR_016608	genbank	human	model	54_36p	rna	SNP	1.000	T
FILIP1L	11259	genome.wustl.edu	37	3	99568229	99568229	+	Missense_Mutation	SNP	A	A	G	rs202066216		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr3:99568229A>G	ENST00000354552.3	-	5	2761	c.2291T>C	c.(2290-2292)aTt>aCt	p.I764T	FILIP1L_ENST00000487087.1_Missense_Mutation_p.I340T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.I524T|FILIP1L_ENST00000331335.5_Missense_Mutation_p.I764T|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.I524T	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	764						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GAGGTTTTCAATCTCTCTTCC	0.413																																																0			3						A	THR/ILE,THR/ILE,,THR/ILE	1,3689		0,1,1844	175.0	157.0	163.0		2291,1571,,2291	4.6	1.0	3		163	2,8164		0,2,4081	no	missense,missense,intron,missense	FILIP1L,C3orf26	NM_001042459.1,NM_014890.2,NM_032359.3,NM_182909.2	89,89,,89	0,3,5925	GG,GA,AA		0.0245,0.0271,0.0253	benign,benign,,benign	764/1134,524/894,,764/1136	99568229	3,11853	1845	4083	5928	101050919	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2291T>C	3.37:g.99568229A>G	ENSP00000346560:p.Ile764Thr		101050919	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	HMMPfam_CortBP2,superfamily_Prefoldin	p.I764T	ENST00000354552.3	37	c.2291	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	A	11.32	1.604366	0.28534	2.71E-4	2.45E-4	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.26810	2.02;1.73;1.71;2.02;1.71;1.71	5.74	4.58	0.56647	.	0.000000	0.51477	D	0.000089	T	0.15955	0.0384	N	0.14661	0.345	0.39674	D	0.970792	P;P	0.37276	0.589;0.454	B;B	0.35770	0.21;0.104	T	0.07539	-1.0767	10	0.59425	D	0.04	-9.887	11.5424	0.50673	0.9301:0.0:0.0699:0.0	.	764;764	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	764;340;524;764;524;510;524	ENSP00000346560:I764T;ENSP00000417774:I340T;ENSP00000419642:I524T;ENSP00000327880:I764T;ENSP00000373192:I524T;ENSP00000419874:I524T	ENSP00000327880:I764T	I	-	2	0	FILIP1L	101050919	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.455000	0.80726	0.999000	0.39023	0.460000	0.39030	ATT	-	superfamily_Prefoldin		0.413	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	protein_coding	OTTHUMT00000353069.1	A	NM_014890		101050919	-1	no_errors	NM_182909	genbank	human	validated	54_36p	missense	SNP	1.000	G
GBF1	8729	genome.wustl.edu	37	10	104136549	104136549	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr10:104136549T>C	ENST00000369983.3	+	32	4537	c.4277T>C	c.(4276-4278)cTg>cCg	p.L1426P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1426					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GAGGCCAGTCTGAATGGCGGT	0.562																																																0			10											50.0	51.0	50.0					10																	104136549		2203	4300	6503	104126539	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4277T>C	10.37:g.104136549T>C	ENSP00000359000:p.Leu1426Pro		104126539	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7	p.L1426P	ENST00000369983.3	37	c.4277	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017466	0.75161	.	.	ENSG00000107862	ENST00000369983	T	0.15017	2.46	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.995	D;D;P	0.71184	0.972;0.929;0.88	T	0.30060	-0.9991	10	0.51188	T	0.08	-7.24	14.8604	0.70376	0.0:0.0:0.0:1.0	.	1426;1426;1426	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	P	1426	ENSP00000359000:L1426P	ENSP00000359000:L1426P	L	+	2	0	GBF1	104126539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.100000	0.63781	0.379000	0.24179	CTG	-	NULL		0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	protein_coding	OTTHUMT00000050051.1	T			104126539	+1	no_errors	NM_004193	genbank	human	provisional	54_36p	missense	SNP	1.000	C
SFXN2	118980	genome.wustl.edu	37	10	104486513	104486513	+	Silent	SNP	G	G	A			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr10:104486513G>A	ENST00000369893.5	+	2	287	c.120G>A	c.(118-120)gaG>gaA	p.E40E	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	40					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TTGTATCTGAGCGGGAGCTGG	0.587																																																0			10											70.0	71.0	70.0					10																	104486513		2203	4300	6503	104476503	SO:0001819	synonymous_variant	118980			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.120G>A	10.37:g.104486513G>A			104476503	Q5JSM6	Silent	SNP	HMMPfam_Mtc	p.E40	ENST00000369893.5	37	c.120	CCDS7539.1	10																																																																																			-	HMMPfam_Mtc		0.587	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	protein_coding	OTTHUMT00000050096.2	G	XM_058359		104476503	+1	no_errors	NM_178858	genbank	human	validated	54_36p	silent	SNP	1.000	A
FRMPD3	84443	genome.wustl.edu	37	X	106845286	106845286	+	Silent	SNP	A	A	G			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chrX:106845286A>G	ENST00000276185.4	+	16	4116	c.4116A>G	c.(4114-4116)ccA>ccG	p.P1372P				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1372						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGGCTGGCCCAGGCGTGAGCC	0.667																																																0			X											36.0	38.0	37.0					X																	106845286		876	1991	2867	106731942	SO:0001819	synonymous_variant	84443			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4116A>G	X.37:g.106845286A>G			106731942	Q96JK8	Silent	SNP	PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M	p.P1372	ENST00000276185.4	37	c.4116		X																																																																																			-	NULL		0.667	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	protein_coding		A	XM_042978		106731942	+1	no_errors	XM_042978	genbank	human	model	54_36p	silent	SNP	0.003	G
TPT1P9	389787	genome.wustl.edu	37	9	120845474	120845474	+	IGR	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr9:120845474C>T								RP11-281A20.1 (185940 upstream) : RP11-349E4.1 (604555 downstream)																							ACTGTGCTTTCGGTACCTTCA	0.473																																																0			9																																								119885295	SO:0001628	intergenic_variant	0																															9.37:g.120845474C>T			119885295		Missense_Mutation	SNP	HMMPfam_TCTP,superfamily_Mss4-like,PatternScan_TCTP_2	p.E29K		37	c.85		9																																																																																			-	HMMPfam_TCTP,superfamily_Mss4-like	0	0.473					LOC389787			C			119885295	-1	no_errors	XM_001725747	genbank	human	model	54_36p	missense	SNP	0.100	T
CDK5RAP2	55755	genome.wustl.edu	37	9	123234045	123234045	+	Silent	SNP	G	G	A	rs372200995		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr9:123234045G>A	ENST00000349780.4	-	16	2018	c.1839C>T	c.(1837-1839)agC>agT	p.S613S	CDK5RAP2_ENST00000360190.4_Silent_p.S613S|CDK5RAP2_ENST00000359309.3_Silent_p.S613S|CDK5RAP2_ENST00000360822.3_Silent_p.S613S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	613					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCCGAATTTCGCTGatctgct	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18352	0.0		0.0	False		,,,				2504	0.0															0			9						G	,	1,4405	2.1+/-5.4	0,1,2202	116.0	111.0	113.0		1839,1839	-10.6	0.1	9		113	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDK5RAP2	NM_001011649.1,NM_018249.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	613/1815,613/1894	123234045	1,13005	2203	4300	6503	122273866	SO:0001819	synonymous_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1839C>T	9.37:g.123234045G>A			122273866	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	HMMPfam_Microtub_assoc	p.S613	ENST00000349780.4	37	c.1839	CCDS6823.1	9																																																																																			-	NULL		0.463	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	protein_coding	OTTHUMT00000055535.1	G	NM_018249		122273866	-1	no_errors	NM_018249	genbank	human	reviewed	54_36p	silent	SNP	0.807	A
Unknown	0	genome.wustl.edu	37	10	122892556	122892556	+	IGR	SNP	G	G	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr10:122892556G>T								RP11-95I16.2 (152343 upstream) : RP11-159H3.2 (45657 downstream)																							TTGAATGGCTGATCTGTGTAA	0.413																																																0			10																																								122882546	SO:0001628	intergenic_variant	646255																															10.37:g.122892556G>T			122882546		RNA	SNP	-	NULL		37	NULL		10																																																																																			-	-	0	0.413					LOC646255			G			122882546	-1	pseudogene	XR_017113	genbank	human	model	54_36p	rna	SNP	0.021	T
SKA2P1	729012	genome.wustl.edu	37	9	125524510	125524510	+	IGR	SNP	T	T	C			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr9:125524510T>C								OR1L6 (11448 upstream) : OR5C1 (26639 downstream)																							GCCAGATTTATGAAGAAATGG	0.398																																																0			9																																								124564331	SO:0001628	intergenic_variant	729012																															9.37:g.125524510T>C			124564331		Nonstop_Mutation	SNP	NULL	p.*122R		37	c.364		9	.	.	.	.	.	.	.	.	.	.	t	0.334	-0.954700	0.02285	.	.	ENSG00000232387	ENST00000425592	.	.	.	3.82	-0.496	0.12027	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7475	0.13045	0.1869:0.0:0.3844:0.4286	.	.	.	.	R	127	.	.	X	+	1	0	SKA2L	124564331	0.728000	0.28080	0.086000	0.20670	0.024000	0.10985	0.050000	0.14120	0.146000	0.19002	-1.591000	0.00844	TGA	-	NULL	0	0.398					LOC729012			T			124564331	+1	no_errors	XM_001130187	genbank	human	model	54_36p	nonstop	SNP	0.438	C
IRF5	3663	genome.wustl.edu	37	7	128587374	128587374	+	Missense_Mutation	SNP	G	G	A	rs199508964|rs113806178|rs60344245	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr7:128587374G>A	ENST00000402030.2	+	6	596	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	IRF5_ENST00000477535.1_Intron|IRF5_ENST00000357234.5_Missense_Mutation_p.R191Q|IRF5_ENST00000473745.1_Missense_Mutation_p.R175Q|IRF5_ENST00000249375.4_Missense_Mutation_p.R175Q	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	175					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCCACTCTGCGGCCGCCTACT	0.657																																																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	7											6.0	8.0	7.0					7																	128587374		1947	3850	5797	128374610	SO:0001583	missense	3663				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.524G>A	7.37:g.128587374G>A	ENSP00000385352:p.Arg175Gln		128374610	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Nonsense_Mutation	SNP	HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3	p.W181*	ENST00000402030.2	37	c.542	CCDS5808.1	7	628|628	0.2875457875457875|0.2875457875457875	155|155	0.3150406504065041|0.3150406504065041	88|88	0.2430939226519337|0.2430939226519337	148|148	0.25874125874125875|0.25874125874125875	237|237	0.31266490765171506|0.31266490765171506	G|G	0.019|0.019	-1.454282|-1.454282	0.01071|0.01071	.|.	.|.	ENSG00000128604|ENSG00000128604	ENST00000430204|ENST00000357234;ENST00000402030;ENST00000249375;ENST00000473745	.|D;D;D;D	.|0.97256	.|-4.25;-4.31;-4.31;-4.31	.|.	.|.	.|.	.|.	.|5.726080	.|0.00166	.|N	.|0.000000	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.80722|0.80722	P|P	0.0|0.0	.|B;.	.|0.02656	.|0.0;.	.|B;.	.|0.01281	.|0.0;.	T|T	0.62562|0.62562	-0.6828|-0.6828	3|7	0.06757|0.13470	T|T	0.87|0.59	.|.	.|.	.|.	.|.	.|.	164|175;191	E9PC81|Q13568;Q13568-2	.|IRF5_HUMAN;.	S|Q	164|191;175;175;175	.|ENSP00000349770:R191Q;ENSP00000385352:R175Q;ENSP00000249375:R175Q;ENSP00000419149:R175Q	ENSP00000409106:G164S|ENSP00000249375:R175Q	G|R	+|+	1|2	0|0	IRF5|IRF5	128374610|128374610	0.019000|0.019000	0.18553|0.18553	0.128000|0.128000	0.21923|0.21923	0.042000|0.042000	0.13812|0.13812	-1.450000|-1.450000	0.02390|0.02390	-1.505000|-1.505000	0.01807|0.01807	-1.490000|-1.490000	0.00973|0.00973	GGC|CGG	-	NULL		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	protein_coding	OTTHUMT00000350934.1	G	NM_001098627		128374610	+1	no_errors	NM_002200	genbank	human	reviewed	54_36p	nonsense	SNP	0.391	A
PPP2R2B	5521	genome.wustl.edu	37	5	146085921	146085921	+	Intron	SNP	C	C	G	rs77282119	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr5:146085921C>G	ENST00000394413.3	-	2	641				PPP2R2B_ENST00000394414.1_Intron|PPP2R2B_ENST00000453001.1_Intron|PPP2R2B_ENST00000394410.2_Intron|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000508545.2_Intron|PPP2R2B_ENST00000336640.6_Intron|PPP2R2B_ENST00000530902.1_Intron|PPP2R2B_ENST00000394411.4_Intron|PPP2R2B_ENST00000394409.3_Intron|PPP2R2B_ENST00000356826.3_Intron			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta						apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGCCAGAGCCTGTGAGGCC	0.602													C|||	1044	0.208466	0.0893	0.2118	5008	,	,		19411	0.4206		0.1869	False		,,,				2504	0.1708															0			5																																								146066114	SO:0001627	intron_variant	0			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.71-5216G>C	5.37:g.146085921C>G			146066114	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	RNA	SNP	-	NULL	ENST00000394413.3	37	NULL	CCDS4284.1	5																																																																																			-	-		0.602	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128116	protein_coding	OTTHUMT00000251893.2	C	NM_181678		146066114	-1	pseudogene	XR_039194	genbank	human	model	54_36p	rna	SNP	0.001	G
HRNR	388697	genome.wustl.edu	37	1	152187276	152187276	+	Missense_Mutation	SNP	C	C	T	rs199952550	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:152187276C>T	ENST00000368801.2	-	3	6904	c.6829G>A	c.(6829-6831)Ggt>Agt	p.G2277S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2277					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGCTGACCGTGGCTGGAA	0.572																																																0			1											5.0	7.0	7.0					1																	152187276		1607	3791	5398	150453900	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6829G>A	1.37:g.152187276C>T	ENSP00000357791:p.Gly2277Ser		150453900	Q5DT20|Q5U1F4	Missense_Mutation	SNP	superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK	p.G2277S	ENST00000368801.2	37	c.6829	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	8.412	0.844499	0.16963	.	.	ENSG00000197915	ENST00000368801	T	0.16196	2.36	3.98	-0.207	0.13189	.	.	.	.	.	T	0.01765	0.0056	N	0.19112	0.55	0.09310	N	1	D	0.52996	0.957	B	0.34242	0.178	T	0.38672	-0.9650	9	0.09590	T	0.72	.	6.592	0.22651	0.0:0.5599:0.0:0.4401	.	2277	Q86YZ3	HORN_HUMAN	S	2277	ENSP00000357791:G2277S	ENSP00000357791:G2277S	G	-	1	0	HRNR	150453900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.276000	0.08514	-0.129000	0.11620	0.650000	0.86243	GGT	-	NULL		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868		150453900	-1	no_errors	NM_001009931	genbank	human	validated	54_36p	missense	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152278555	152278555	+	Missense_Mutation	SNP	T	T	C	rs80221306	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:152278555T>C	ENST00000368799.1	-	3	8842	c.8807A>G	c.(8806-8808)gAc>gGc	p.D2936G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2936	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGCTCTGTCTTCTTGATG	0.552									Ichthyosis																																							0			1						T	GLY/ASP	267,3373		3,261,1556	22.0	34.0	31.0		8807	1.3	0.0	1	dbSNP_131	31	809,7583		0,809,3387	no	missense	FLG	NM_002016.1	94	3,1070,4943	CC,CT,TT		9.6401,7.3352,8.9428	benign	2936/4062	152278555	1076,10956	1820	4196	6016	150545179	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8807A>G	1.37:g.152278555T>C	ENSP00000357789:p.Asp2936Gly		150545179	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin	p.D2936G	ENST00000368799.1	37	c.8807	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	7.089	0.571862	0.13623	0.073352	0.096401	ENSG00000143631	ENST00000368799	T	0.01685	4.69	1.29	1.29	0.21616	.	.	.	.	.	T	0.00815	0.0027	M	0.70595	2.14	0.80722	P	0.0	B	0.17852	0.024	B	0.10450	0.005	T	0.39375	-0.9617	8	0.22706	T	0.39	.	4.7721	0.13160	0.0:0.0:0.0:1.0	.	2936	P20930	FILA_HUMAN	G	2936	ENSP00000357789:D2936G	ENSP00000357789:D2936G	D	-	2	0	FLG	150545179	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.386000	0.07370	0.851000	0.35264	0.248000	0.18094	GAC	-	NULL		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	T	NM_002016		150545179	-1	no_errors	NM_002016	genbank	human	provisional	54_36p	missense	SNP	0.000	C
FLG	2312	genome.wustl.edu	37	1	152279019	152279019	+	Silent	SNP	G	G	A	rs57670307	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:152279019G>A	ENST00000368799.1	-	3	8378	c.8343C>T	c.(8341-8343)gaC>gaT	p.D2781D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2781	Ser-rich.		D -> Y (in dbSNP:rs2065958).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCGTCTTGGGATG	0.607									Ichthyosis																																							0			1						C		87,4307		0,87,2110	459.0	597.0	550.0		8343	-6.8	0.0	1	dbSNP_129	550	660,7940		0,660,3640	no	coding-synonymous	FLG	NM_002016.1		0,747,5750	AA,AG,GG		7.6744,1.98,5.7488		2781/4062	152279019	747,12247	2197	4300	6497	150545643	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8343C>T	1.37:g.152279019G>A			150545643	Q01720|Q5T583|Q9UC71	Silent	SNP	PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473	p.D2781	ENST00000368799.1	37	c.8343	CCDS30860.1	1																																																																																			-	NULL		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016		150545643	-1	no_errors	NM_002016	genbank	human	provisional	54_36p	silent	SNP	0.000	A
LPA	4018	genome.wustl.edu	37	6	160968909	160968909	+	Missense_Mutation	SNP	G	G	A	rs201624944		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr6:160968909G>A	ENST00000316300.5	-	32	5260	c.5216C>T	c.(5215-5217)aCg>aTg	p.T1739M	LPA_ENST00000447678.1_Missense_Mutation_p.T1739M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4247	Kringle 16. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.T1739M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGCATGGCGTCCCAGTAAC	0.453																																																1	Substitution - Missense(1)	large_intestine(1)	6						G	MET/THR	0,4404		0,0,2202	99.0	107.0	104.0		5216	0.6	0.0	6		104	2,8598	811.6+/-407.1	0,2,4298	no	missense	LPA	NM_005577.2	81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1739/2041	160968909	2,13002	2202	4300	6502	160888899	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5216C>T	6.37:g.160968909G>A	ENSP00000321334:p.Thr1739Met		160888899	Q5VTD7|Q9UD88	Missense_Mutation	SNP	superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.T1739M	ENST00000316300.5	37	c.5216	CCDS43523.1	6	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	a	0.039	-1.294328	0.01375	0.0	2.33E-4	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62639	0.01;0.01	2.49	0.589	0.17452	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.26629	0.0651	L	0.45470	1.425	0.09310	N	1	P	0.43788	0.817	B	0.37047	0.24	T	0.12142	-1.0559	9	0.49607	T	0.09	.	2.4601	0.04539	0.2899:0.0:0.4779:0.2322	.	4247	P08519	APOA_HUMAN	M	1739	ENSP00000321334:T1739M;ENSP00000395608:T1739M	ENSP00000321334:T1739M	T	-	2	0	LPA	160888899	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.053000	0.11846	0.001000	0.14605	0.184000	0.17185	ACG	-	HMMSmart_SM00130,superfamily_Kringle-like,HMMPfam_Kringle		0.453	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	protein_coding	OTTHUMT00000042957.1	G	NM_005577		160888899	-1	no_errors	NM_005577	genbank	human	validated	54_36p	missense	SNP	0.000	A
GPR1	2825	genome.wustl.edu	37	2	207041797	207041797	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr2:207041797C>T	ENST00000407325.2	-	3	537	c.175G>A	c.(175-177)Gtc>Atc	p.V59I	GPR1_ENST00000437420.1_Missense_Mutation_p.V59I	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	59					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AACCAAATGACGATGGCATTT	0.468																																																0			2											171.0	178.0	176.0					2																	207041797		2203	4300	6503	206750042	SO:0001583	missense	2825				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.175G>A	2.37:g.207041797C>T	ENSP00000384345:p.Val59Ile		206750042	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.V59I	ENST00000407325.2	37	c.175	CCDS2368.1	2	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748164	0.49257	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845;ENST00000439932;ENST00000411719	D;D;D;D;D;T;T	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;0.97;0.97	5.84	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.065305	0.64402	N	0.000010	D	0.83440	0.5255	M	0.85462	2.755	0.58432	D	0.999998	P	0.38504	0.634	B	0.32393	0.145	D	0.85360	0.1107	10	0.66056	D	0.02	.	14.991	0.71387	0.0:0.9318:0.0:0.0682	.	59	P46091	GPR1_HUMAN	I	59	ENSP00000384345:V59I;ENSP00000397535:V59I;ENSP00000414836:V59I;ENSP00000391146:V59I;ENSP00000414524:V59I;ENSP00000409577:V59I;ENSP00000404861:V59I	ENSP00000384345:V59I	V	-	1	0	GPR1	206750042	1.000000	0.71417	0.938000	0.37757	0.430000	0.31655	6.048000	0.71046	1.483000	0.48342	-0.145000	0.13849	GTC	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.468	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR1	protein_coding	OTTHUMT00000256394.2	C	NM_001098199		206750042	-1	no_errors	NM_001098199	genbank	human	validated	54_36p	missense	SNP	0.995	T
COG2	22796	genome.wustl.edu	37	1	230820961	230820961	+	Silent	SNP	A	A	G			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:230820961A>G	ENST00000366669.4	+	12	1474	c.1359A>G	c.(1357-1359)cgA>cgG	p.R453R	COG2_ENST00000366668.3_Silent_p.R453R|COG2_ENST00000535166.1_Silent_p.R337R|COG2_ENST00000534989.1_Silent_p.R394R|COG2_ENST00000546013.1_Silent_p.R142R	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	453					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTTTGGCACGATACTCTGTGT	0.433																																																0			1											209.0	189.0	196.0					1																	230820961		2203	4300	6503	228887584	SO:0001819	synonymous_variant	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1359A>G	1.37:g.230820961A>G			228887584	Q86U99	Silent	SNP	HMMPfam_COG2	p.R453	ENST00000366669.4	37	c.1359	CCDS1584.1	1																																																																																			-	NULL		0.433	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	protein_coding	OTTHUMT00000092087.1	A	NM_007357		228887584	+1	no_errors	NM_007357	genbank	human	reviewed	54_36p	silent	SNP	0.860	G
NCL	4691	genome.wustl.edu	37	2	232327273	232327273	+	Intron	SNP	G	G	A	rs115288824	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr2:232327273G>A	ENST00000322723.4	-	3	376				SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin						angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTGATAAAAGTCATCATTTA	0.333													.|||	28	0.00559105	0.0	0.0101	5008	,	,		20806	0.0		0.0179	False		,,,				2504	0.0031															0			2						G		7,1741		0,7,867	22.0	23.0	23.0			-0.7	0.0	2	dbSNP_132	23	81,3897		1,79,1909	no	intron	NCL	NM_005381.2		1,86,2776	AA,AG,GG		2.0362,0.4005,1.5368			232327273	88,5638	874	1989	2863	232035517	SO:0001627	intron_variant	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.136-545C>T	2.37:g.232327273G>A			232035517	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMSmart_SM00361	p.D49	ENST00000322723.4	37	c.147	CCDS33397.1	2																																																																																			-	NULL		0.333	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	protein_coding	OTTHUMT00000332731.1	G	NM_005381		232035517	-1	no_errors	ENST00000392033	ensembl	human	known	54_36p	silent	SNP	0.030	A
OR2T2	401992	genome.wustl.edu	37	1	248616764	248616764	+	Silent	SNP	C	C	T	rs376553658		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACGCACATCCTCCTGACTG	0.542																																																0			1											182.0	125.0	144.0					1																	248616764		2186	4264	6450	246683387	SO:0001819	synonymous_variant	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.666C>T	1.37:g.248616764C>T			246683387	B2RNM1|B9EH01	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.I222	ENST00000342927.3	37	c.666	CCDS31116.1	1																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	protein_coding	OTTHUMT00000097421.1	C	NM_001004136		246683387	+1	no_errors	NM_001004136	genbank	human	provisional	54_36p	silent	SNP	0.011	T
GRIN2A	2903	genome.wustl.edu	37	16	10205850	10205851	+	Intron	INS	-	-	AAGA	rs377417094|rs112309599|rs200108217	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr16:10205850_10205851insAAGA	ENST00000396573.2	-	3	724				GRIN2A_ENST00000396575.2_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Intron|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A						directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCAGCCTAGCAAGGGAAGCTG	0.53														2104	0.420128	0.3971	0.3343	5008	,	,		24675	0.4861		0.3738	False		,,,				2504	0.4918															0			16																																								10113352	SO:0001627	intron_variant	727833				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.414+68003->TCTT	16.37:g.10205850_10205851insAAGA			10113351	O00669|Q17RZ6	RNA	INS	-	NULL	ENST00000396573.2	37	NULL	CCDS10539.1	16																																																																																			-	-		0.530	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC727833	protein_coding	OTTHUMT00000251930.3	-			10113352	+1	pseudogene	XR_015181	genbank	human	model	54_36p	rna	INS	1.000:1.000	AAGA
OR7E14P	10819	genome.wustl.edu	37	11	17073814	17073814	+	RNA	DEL	C	C	-	rs34107322	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr11:17073814delC	ENST00000530490.1	+	0	606				AC116533.2_ENST00000583154.1_RNA					olfactory receptor, family 7, subfamily E, member 14 pseudogene																		TGCCTGACATCGGTTTCACCT	0.557													C|C|-|deletion	3204	0.639776	0.6271	0.6182	5008	,	,		22437	0.8075		0.493	False		,,,				2504	0.6503															0			11																																								17030390			0			AF065856		11p15.1	2012-08-09			ENSG00000184669	ENSG00000184669		"""GPCR / Class A : Olfactory receptors"""	8385	pseudogene	pseudogene				OR7E151P		9787077	Standard	NR_045002		Approved	OR11-5	uc021qeh.1		OTTHUMG00000165955		11.37:g.17073814delC			17030390		Splice_Site	DEL	-	NULL	ENST00000530490.1	37	c.NULL		11																																																																																			(deletion:intron[17030388,17030391])	-		0.557	OR7E14P-002	KNOWN	basic	processed_transcript	ENSG00000184669	pseudogene	OTTHUMT00000387319.1	C			17030390	+1	no_coding_region:pseudogene	ENST00000333752	ensembl	human	novel	54_36p	splice_site_del	DEL	0.179	-
ZNF683	257101	genome.wustl.edu	37	1	26691287	26691310	+	In_Frame_Del	DEL	CCACCGAGCGCTGGGGTGCCCCAG	CCACCGAGCGCTGGGGTGCCCCAG	-	rs200435398|rs148069404|rs201284148|rs372936882|rs144078461|rs145815386	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	CCACCGAGCGCTGGGGTGCCCCAG	CCACCGAGCGCTGGGGTGCCCCAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:26691287_26691310delCCACCGAGCGCTGGGGTGCCCCAG	ENST00000436292.1	-	4	847_870	c.727_750delCTGGGGCACCCCAGCGCTCGGTGG	c.(727-750)ctggggcaccccagcgctcggtggdel	p.LGHPSARW243del	ZNF683_ENST00000349618.3_In_Frame_Del_p.LGHPSARW243del|ZNF683_ENST00000403843.1_In_Frame_Del_p.LGHPSARW243del|ZNF683_ENST00000374204.1_In_Frame_Del_p.LGHPSARW243del			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	243					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L228_W235delLGHPSARW(1)|p.L243_W250delLGHPSARW(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCAGGGTCTCCCACCGAGCGCTGGGGTGCCCCAGCTCATTGACC	0.643														765	0.152756	0.3585	0.072	5008	,	,		17943	0.0427		0.1004	False		,,,				2504	0.0992															2	Deletion - In frame(2)	large_intestine(2)	1							,	1178,3066		193,792,1137					,	-0.1	0.0		dbSNP_134	41	676,7574		34,608,3483	no	coding,coding	ZNF683	NM_173574.2,NM_001114759.1	,	227,1400,4620	A1A1,A1R,RR		8.1939,27.7568,14.8391	,	,		1854,10640				26563897	SO:0001651	inframe_deletion	257101			BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.727_750delCTGGGGCACCCCAGCGCTCGGTGG	1.37:g.26691287_26691310delCCACCGAGCGCTGGGGTGCCCCAG	ENSP00000388792:p.Leu243_Trp250del		26563874	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	In_Frame_Del	DEL	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.LGHPSARW243in_frame_del	ENST00000436292.1	37	c.750_727		1																																																																																			(deletion:cds_exon[26563610,26564304])	NULL		0.643	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF683	protein_coding	OTTHUMT00000009794.2	CCACCGAGCGCTGGGGTGCCCCAG	NM_173574		26563897	-1	no_errors	NM_173574	genbank	human	validated	54_36p	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.032:0.013:0.002:0.003:0.001:0.000:0.001:0.000:0.002:0.000	-
SLC25A52	147407	genome.wustl.edu	37	18	29339968	29339969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr18:29339968_29339969insC	ENST00000579441.2	-	1	655_656	c.656_657insG	c.(655-657)ggtfs	p.G219fs	SLC25A52_ENST00000269205.5_Frame_Shift_Ins_p.G229fs			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	219					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CACCCAATAGACCTCCACCGAT	0.455																																																0			18																																								27593967	SO:0001589	frameshift_variant	147407				CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.657dupG	18.37:g.29339970_29339970dupC	ENSP00000462754:p.Gly219fs		27593966		Frame_Shift_Ins	INS	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr	p.L220fs	ENST00000579441.2	37	c.657_656		18																																																																																			-	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr		0.455	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	MCART2	protein_coding		-	XM_084000		27593967	-1	no_errors	NM_001034172	genbank	human	validated	54_36p	frame_shift_ins	INS	0.995:0.999	C
PRRC2A	7916	genome.wustl.edu	37	6	31595773	31595784	+	In_Frame_Del	DEL	CCTGCTGCCCCA	CCTGCTGCCCCA	-	rs375038051|rs149965706	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	CCTGCTGCCCCA	CCTGCTGCCCCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr6:31595773_31595784delCCTGCTGCCCCA	ENST00000376033.2	+	12	1756_1767	c.1522_1533delCCTGCTGCCCCA	c.(1522-1533)cctgctgccccadel	p.PAAP512del	PRRC2A_ENST00000376007.4_In_Frame_Del_p.PAAP512del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	512	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAAAGCAGAGCCTGCTGCCCCACCTGCTGCCC	0.618														606	0.121006	0.059	0.183	5008	,	,		19193	0.129		0.161	False		,,,				2504	0.1115															0			6							,	244,3224		16,212,1506					,	2.8	1.0		dbSNP_131	117	848,6310		75,698,2806	no	coding,coding	PRRC2A	NM_080686.2,NM_004638.3	,	91,910,4312	A1A1,A1R,RR		11.8469,7.0358,10.2767	,	,		1092,9534				31703763	SO:0001651	inframe_deletion	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1522_1533delCCTGCTGCCCCA	6.37:g.31595773_31595784delCCTGCTGCCCCA	ENSP00000365201:p.Pro512_Pro515del		31703752	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	In_Frame_Del	DEL	HMMPfam_BAT2_N	p.PPAA511in_frame_del	ENST00000376033.2	37	c.1522_1533	CCDS4708.1	6																																																																																			(deletion:cds_exon[31703521,31703995])	NULL		0.618	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BAT2	protein_coding	OTTHUMT00000259319.1	CCTGCTGCCCCA	NM_080686		31703763	+1	no_errors	NM_080686	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.999:0.993:0.773	-
NLRC5	84166	genome.wustl.edu	37	16	57095843	57095846	+	Intron	DEL	AAAG	AAAG	-	rs71383216|rs372275096|rs142124514|rs377378608|rs397719564	byFrequency	TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	AAAG	AAAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr16:57095843_57095846delAAAG	ENST00000262510.6	+	32	4379				NLRC5_ENST00000539144.1_Intron|NLRC5_ENST00000436936.1_Intron|NLRC5_ENST00000308149.7_Intron	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTTaagaaaaaaagaaagaaagaa	0.417														1650	0.329473	0.3812	0.3055	5008	,	,		17536	0.3254		0.331	False		,,,				2504	0.2791															0			16																																								55653347	SO:0001627	intron_variant	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4154+230AAAG>-	16.37:g.57095851_57095854delAAAG			55653344	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Frame_Shift_Del	DEL	HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368	p.K1096fs	ENST00000262510.6	37	c.3278_3281	CCDS10773.1	16																																																																																			(deletion:cds_exon[55653273,55653357])	NULL		0.417	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	protein_coding	OTTHUMT00000257346.1	AAAG	NM_032206		55653347	+1	no_stop_codon	ENST00000327982	ensembl	human	known	54_36p	frame_shift_del	DEL	0.005:0.001:0.000:0.000	-
SPTB	6710	genome.wustl.edu	37	14	65216823	65216825	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	AGA	AGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr14:65216823_65216825delAGA	ENST00000556626.1	-	34	6792_6794	c.6650_6652delTCT	c.(6649-6654)ttctac>tac	p.F2217del	SPTB_ENST00000389722.3_In_Frame_Del_p.F2217del|SPTB_ENST00000342835.4_5'UTR			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCATCCTTGTAGAAGGTTAGCTC	0.532																																																0			14																																								64286578	SO:0001651	inframe_deletion	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6650_6652delTCT	14.37:g.65216823_65216825delAGA	ENSP00000451752:p.Phe2217del		64286576	Q15510|Q15519	In_Frame_Del	DEL	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.F2217in_frame_del	ENST00000556626.1	37	c.6652_6650	CCDS32099.1	14																																																																																			(deletion:cds_exon[64286452,64286625])	HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH		0.532	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414076.1	AGA			64286578	-1	no_errors	NM_001024858	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:1.000:1.000	-
DENND4B	9909	genome.wustl.edu	37	1	153907279	153907287	+	In_Frame_Del	DEL	CTGCTGCTG	CTGCTGCTG	-	rs3835302|rs368800700|rs375006474|rs199597671		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	CTGCTGCTG	CTGCTGCTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:153907279_153907287delCTGCTGCTG	ENST00000361217.4	-	18	3140_3148	c.2722_2730delCAGCAGCAG	c.(2722-2730)cagcagcagdel	p.QQQ908del	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	908	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACACctgctcctgctgctgctgctgctgc	0.636																																																0			1																																								152173911	SO:0001651	inframe_deletion	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2722_2730delCAGCAGCAG	1.37:g.153907288_153907296delCTGCTGCTG	ENSP00000354597:p.Gln908_Gln910del		152173903	Q5T4K0	In_Frame_Del	DEL	HMMSmart_uDENN,HMMPfam_uDENN,HMMPfam_DENN,HMMSmart_DENN,HMMPfam_dDENN,HMMSmart_dDENN,HMMPfam_PPR	p.QQQ908in_frame_del	ENST00000361217.4	37	c.2730_2722	CCDS44228.1	1																																																																																			(deletion:cds_exon[152173860,152174064])	NULL		0.636	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	protein_coding	OTTHUMT00000090278.2	CTGCTGCTG	XM_375806		152173911	-1	no_errors	NM_014856	genbank	human	validated	54_36p	in_frame_del	DEL	0.852:0.853:0.853:0.867:0.882:0.897:0.913:0.962:0.976	-
TOR1AIP1	26092	genome.wustl.edu	37	1	179870480	179870481	+	Frame_Shift_Ins	INS	-	-	A	rs570033626		TCGA-29-1690-01A-01W-0633-09	TCGA-29-1690-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	33e066de-5376-4149-97fa-bc4897a13c16	8a75c82b-7afe-4adc-94e5-6a1cd277a420	g.chr1:179870480_179870481insA	ENST00000606911.2	+	5	887_888	c.696_697insA	c.(697-699)actfs	p.T233fs	RN7SL230P_ENST00000580835.1_RNA|TOR1AIP1_ENST00000271583.3_Frame_Shift_Ins_p.T234fs|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000435319.4_Frame_Shift_Ins_p.T112fs|TOR1AIP1_ENST00000528443.2_Frame_Shift_Ins_p.T234fs			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	233					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ACAGCAGTGTCACTACTGTTAA	0.356																																																0			1																																								178137104	SO:0001589	frameshift_variant	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.697dupA	1.37:g.179870481_179870481dupA	ENSP00000476687:p.Thr233fs		178137103	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Frame_Shift_Ins	INS	HMMPfam_LAP1C	p.T232fs	ENST00000606911.2	37	c.696_697	CCDS1335.1	1																																																																																			-	HMMPfam_LAP1C		0.356	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOR1AIP1	protein_coding	OTTHUMT00000100313.4	-	NM_015602		178137104	+1	no_errors	NM_015602	genbank	human	validated	54_36p	frame_shift_ins	INS	0.008:0.008	A
