#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
C1orf174	339448	genome.wustl.edu	37	1	3807326	3807326	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:3807326G>A	ENST00000361605.3	-	3	523	c.425C>T	c.(424-426)cCa>cTa	p.P142L	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	142						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		ACTGTGTTTTGGCACGGACAG	0.567																																																0			1											87.0	79.0	82.0					1																	3807326		2203	4300	6503	3797186	SO:0001583	missense	339448			BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.425C>T	1.37:g.3807326G>A	ENSP00000355306:p.Pro142Leu		3797186	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	NULL	p.P142L	ENST00000361605.3	37	c.425	CCDS53.1	1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646407	0.29246	.	.	ENSG00000198912	ENST00000361605	T	0.06218	3.33	4.52	0.568	0.17333	.	1.051930	0.07411	N	0.892453	T	0.07413	0.0187	L	0.59436	1.845	0.09310	N	0.999994	B	0.25390	0.125	B	0.26202	0.067	T	0.44817	-0.9303	10	0.62326	D	0.03	-5.8318	1.184	0.01851	0.1892:0.1838:0.4376:0.1894	.	142	Q8IYL3	CA174_HUMAN	L	142	ENSP00000355306:P142L	ENSP00000355306:P142L	P	-	2	0	C1orf174	3797186	0.016000	0.18221	0.000000	0.03702	0.003000	0.03518	0.722000	0.25925	-0.071000	0.12886	0.563000	0.77884	CCA	-	NULL		0.567	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf174	protein_coding	OTTHUMT00000010539.1	G	NM_207356		3797186	-1	no_errors	NM_207356	genbank	human	validated	54_36p	missense	SNP	0.001	A
FAM208B	54906	genome.wustl.edu	37	10	5791425	5791425	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr10:5791425C>G	ENST00000328090.5	+	15	6666	c.6041C>G	c.(6040-6042)tCc>tGc	p.S2014C		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2014																	ACCCAGATCTCCATTGGTGCT	0.478																																																0			10											106.0	111.0	109.0					10																	5791425		1927	4130	6057	5831431	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6041C>G	10.37:g.5791425C>G	ENSP00000328426:p.Ser2014Cys		5831431	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	NULL	p.S2014C	ENST00000328090.5	37	c.6041	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	9.061	0.994500	0.19043	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.05319	3.46	5.45	-0.323	0.12709	.	2.020450	0.02017	N	0.047515	T	0.08980	0.0222	L	0.47716	1.5	0.09310	N	1	P	0.46277	0.875	B	0.43754	0.43	T	0.28004	-1.0057	10	0.51188	T	0.08	.	5.5044	0.16846	0.0:0.3041:0.4314:0.2645	.	2014	Q5VWN6	F208B_HUMAN	C	2014;1209	ENSP00000328426:S2014C	ENSP00000328426:S2014C	S	+	2	0	C10orf18	5831431	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.666000	0.05280	-0.037000	0.13646	0.555000	0.69702	TCC	-	NULL		0.478	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf18	protein_coding	OTTHUMT00000046571.2	C	NM_017782		5831431	+1	no_errors	NM_017782	genbank	human	validated	54_36p	missense	SNP	0.000	G
AIPL1	23746	genome.wustl.edu	37	17	6329112	6329112	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr17:6329112C>T	ENST00000381129.3	-	6	903	c.823G>A	c.(823-825)Gca>Aca	p.A275T	AIPL1_ENST00000250087.5_Missense_Mutation_p.A212T|AIPL1_ENST00000574506.1_Missense_Mutation_p.A263T|AIPL1_ENST00000576307.1_Missense_Mutation_p.A215T|AIPL1_ENST00000570466.1_Missense_Mutation_p.A253T|AIPL1_ENST00000576776.1_Missense_Mutation_p.A251T|AIPL1_ENST00000575265.1_3'UTR	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	275					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CACACCTCTGCGTGAGCCCGG	0.662																																																0			17											30.0	29.0	29.0					17																	6329112		2203	4300	6503	6269836	SO:0001583	missense	23746			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.823G>A	17.37:g.6329112C>T	ENSP00000370521:p.Ala275Thr		6269836	D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	superfamily_SSF54534,superfamily_SSF48452	p.A275T	ENST00000381129.3	37	c.823	CCDS11075.1	17	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490553	0.64074	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087;ENST00000444243	D;D	0.88896	-2.44;-2.44	5.14	4.16	0.48862	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.248148	0.39759	N	0.001276	D	0.91338	0.7268	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.999;1.0;1.0;1.0	P;D;D;D;D	0.79108	0.866;0.948;0.991;0.978;0.992	D	0.88200	0.2883	10	0.14656	T	0.56	-23.5966	12.7754	0.57443	0.1654:0.8346:0.0:0.0	.	251;253;212;215;275	Q659W3;Q659W4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	T	275;215;212;275	ENSP00000370521:A275T;ENSP00000250087:A212T	ENSP00000250087:A212T	A	-	1	0	AIPL1	6269836	1.000000	0.71417	0.993000	0.49108	0.319000	0.28217	1.666000	0.37460	1.131000	0.42111	0.462000	0.41574	GCA	-	superfamily_SSF48452		0.662	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AIPL1	protein_coding	OTTHUMT00000219828.3	C	NM_014336		6269836	-1	no_errors	NM_014336	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ETV1	2115	genome.wustl.edu	37	7	13935499	13935499	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:13935499C>T	ENST00000430479.1	-	14	2093	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	ETV1_ENST00000343495.5_Missense_Mutation_p.V458M|ETV1_ENST00000405192.2_Missense_Mutation_p.V453M|ETV1_ENST00000242066.5_Missense_Mutation_p.V458M|ETV1_ENST00000420159.2_Missense_Mutation_p.V418M|ETV1_ENST00000403685.1_Missense_Mutation_p.V458M|ETV1_ENST00000403527.1_Missense_Mutation_p.V436M|ETV1_ENST00000405358.4_Missense_Mutation_p.V490M|ETV1_ENST00000405218.2_Missense_Mutation_p.V476M|ETV1_ENST00000399357.3_Missense_Mutation_p.V373M	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	476					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGTTAATACACGTAGCCTTCG	0.473			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																		Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	0			7											50.0	47.0	48.0					7																	13935499		1934	4143	6077	13902024	SO:0001583	missense	2115				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1426G>A	7.37:g.13935499C>T	ENSP00000405327:p.Val476Met		13902024	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	HMMPfam_ETS_PEA3_N,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2	p.V490M	ENST00000430479.1	37	c.1468	CCDS55088.1	7	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787483	0.70337	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685	T;T;T;T;T;T;T;T;T;T	0.10192	2.92;2.9;2.9;2.91;2.9;2.93;2.9;2.92;2.92;2.9	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	L	0.37630	1.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D;P	0.81914	0.974;0.954;0.994;0.994;0.995;0.987;0.869	T	0.00501	-1.1702	10	0.44086	T	0.13	.	19.3223	0.94246	0.0:1.0:0.0:0.0	.	464;458;490;418;373;436;476	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	M	476;458;458;418;373;453;490;436;476;458	ENSP00000405327:V476M;ENSP00000242066:V458M;ENSP00000340853:V458M;ENSP00000411626:V418M;ENSP00000382293:V373M;ENSP00000385381:V453M;ENSP00000384085:V490M;ENSP00000384138:V436M;ENSP00000385551:V476M;ENSP00000385686:V458M	ENSP00000242066:V458M	V	-	1	0	ETV1	13902024	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	5.912000	0.69948	2.569000	0.86673	0.650000	0.86243	GTG	-	NULL		0.473	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ETV1	protein_coding	OTTHUMT00000326111.1	C	NM_004956		13902024	-1	no_errors	ENST00000405358	ensembl	human	known	54_36p	missense	SNP	1.000	T
OR7C2	26658	genome.wustl.edu	37	19	15052271	15052271	+	5'Flank	SNP	T	T	C	rs181905439		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr19:15052271T>C	ENST00000248072.3	+	0	0					NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GCTGTTTTTTTTCCTCCTTCT	0.443																																																0			19						T		1,4401		0,1,2200	86.0	102.0	96.0			1.0	0.0	19		96	0,8598		0,0,4299	no	near-gene-5				0,1,6499	CC,CT,TT		0.0,0.0227,0.0077			15052271	1,12999	2201	4299	6500	14913271	SO:0001631	upstream_gene_variant	26658			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412			19.37:g.15052271T>C	Exception_encountered		14913271	O43881|Q6IFP9	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.F33L	ENST00000248072.3	37	c.97	CCDS12320.1	19																																																																																			-	NULL		0.443	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	protein_coding	OTTHUMT00000466281.1	T			14913271	+1	no_errors	ENST00000380000	ensembl	human	known	54_36p	missense	SNP	0.000	C
ITGA8	8516	genome.wustl.edu	37	10	15713623	15713623	+	Missense_Mutation	SNP	A	A	G	rs376644664		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr10:15713623A>G	ENST00000378076.3	-	8	1179	c.826T>C	c.(826-828)Ttt>Ctt	p.F276L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	276					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCCCAGTAAACTCCCCAGCA	0.343																																																0			10											89.0	82.0	84.0					10																	15713623		2203	4300	6503	15753629	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.826T>C	10.37:g.15713623A>G	ENSP00000367316:p.Phe276Leu		15753629	B0YJ31|Q5VX94	Missense_Mutation	SNP	superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha	p.F276L	ENST00000378076.3	37	c.826	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981132	0.74474	.	.	ENSG00000077943	ENST00000378076	T	0.22134	1.97	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.56595	-0.7953	10	0.52906	T	0.07	.	15.6114	0.76721	1.0:0.0:0.0:0.0	.	276	P53708	ITA8_HUMAN	L	276	ENSP00000367316:F276L	ENSP00000367316:F276L	F	-	1	0	ITGA8	15753629	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	7.109000	0.77062	2.158000	0.67659	0.374000	0.22700	TTT	-	superfamily_SSF69318,HMMSmart_Int_alpha		0.343	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	protein_coding	OTTHUMT00000046987.1	A	NM_003638		15753629	-1	no_errors	NM_003638	genbank	human	provisional	54_36p	missense	SNP	1.000	G
DDI2	84301	genome.wustl.edu	37	1	15953195	15953195	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:15953195A>G	ENST00000480945.1	+	2	341	c.170A>G	c.(169-171)aAc>aGc	p.N57S		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTCACAGACAACCACAGATCA	0.458																																																0			1											199.0	185.0	190.0					1																	15953195		2203	4300	6503	15825782	SO:0001583	missense	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.170A>G	1.37:g.15953195A>G	ENSP00000417748:p.Asn57Ser		15825782	A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	superfamily_Ubiquitin-like,HMMPfam_ubiquitin,HMMPfam_Asp_protease,superfamily_Acid proteases	p.N57S	ENST00000480945.1	37	c.170	CCDS30607.1	1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373035	0.61624	.	.	ENSG00000197312	ENST00000480945	T	0.73681	-0.77	5.53	5.53	0.82687	Ubiquitin supergroup (1);Ubiquitin (1);	0.183753	0.46758	U	0.000265	T	0.67933	0.2946	L	0.41824	1.3	0.43226	D	0.995115	B	0.28933	0.228	B	0.30251	0.113	T	0.66168	-0.5991	10	0.40728	T	0.16	-19.9113	15.3325	0.74226	1.0:0.0:0.0:0.0	.	57	Q5TDH0	DDI2_HUMAN	S	57	ENSP00000417748:N57S	ENSP00000417748:N57S	N	+	2	0	DDI2	15825782	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.424000	0.52764	2.097000	0.63578	0.374000	0.22700	AAC	-	superfamily_Ubiquitin-like,HMMPfam_ubiquitin		0.458	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI2	protein_coding	OTTHUMT00000006826.1	A	NM_032341		15825782	+1	no_errors	NM_032341	genbank	human	provisional	54_36p	missense	SNP	1.000	G
SOSTDC1	25928	genome.wustl.edu	37	7	16505260	16505260	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:16505260G>C	ENST00000307068.4	-	1	214	c.34C>G	c.(34-36)Ccc>Gcc	p.P12A	SOSTDC1_ENST00000396652.1_Missense_Mutation_p.P12A	NM_015464.2	NP_056279.1	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	12				FYLLPLA -> LSLIPLL (in Ref. 3; AAQ83296). {ECO:0000305}.	hair follicle morphogenesis (GO:0031069)|mammary gland bud morphogenesis (GO:0060648)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell fate commitment (GO:0010454)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CATGCAAGGGGAAGGAGATAG	0.428																																																0			7											103.0	103.0	103.0					7																	16505260		2203	4300	6503	16471785	SO:0001583	missense	25928			AB059270	CCDS5360.1	7p21.2	2007-08-01			ENSG00000171243	ENSG00000171243			21748	protein-coding gene	gene with protein product	"""ectodin"""	609675					Standard	NM_015464		Approved	DKFZp564D206, USAG1	uc003stg.3	Q6X4U4	OTTHUMG00000090807	ENST00000307068.4:c.34C>G	7.37:g.16505260G>C	ENSP00000304930:p.Pro12Ala		16471785	A8MUA6|Q96HJ7|Q9Y3U3	Missense_Mutation	SNP	HMMPfam_Sclerostin	p.P12A	ENST00000307068.4	37	c.34	CCDS5360.1	7	.	.	.	.	.	.	.	.	.	.	G	7.061	0.566456	0.13560	.	.	ENSG00000171243	ENST00000307068;ENST00000396652	T;T	0.76968	-1.06;-1.06	5.93	4.12	0.48240	.	0.842485	0.10921	N	0.619466	T	0.57066	0.2028	N	0.08118	0	0.25198	N	0.99008	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.001	T	0.41680	-0.9495	10	0.16896	T	0.51	-2.5599	9.2785	0.37714	0.2706:0.0:0.7294:0.0	.	12;12	A8MUA6;Q6X4U4	.;SOSD1_HUMAN	A	12	ENSP00000304930:P12A;ENSP00000379889:P12A	ENSP00000304930:P12A	P	-	1	0	SOSTDC1	16471785	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.884000	0.39668	1.518000	0.48934	0.655000	0.94253	CCC	-	HMMPfam_Sclerostin		0.428	SOSTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOSTDC1	protein_coding	OTTHUMT00000207603.1	G	NM_015464		16471785	-1	no_errors	NM_015464	genbank	human	reviewed	54_36p	missense	SNP	0.983	C
PADI2	11240	genome.wustl.edu	37	1	17422439	17422439	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:17422439G>A	ENST00000375486.4	-	4	439	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	PADI2_ENST00000375481.1_Missense_Mutation_p.R126W|PADI2_ENST00000444885.2_Missense_Mutation_p.R126W	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	126					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACACCATCCCGGTCTGCGTCC	0.612																																																0			1											185.0	160.0	169.0					1																	17422439		2203	4300	6503	17295026	SO:0001583	missense	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.376C>T	1.37:g.17422439G>A	ENSP00000364635:p.Arg126Trp		17295026	Q96DA7|Q9UPN2	Missense_Mutation	SNP	HMMPfam_PAD_N,superfamily_Cupredoxin,HMMPfam_PAD_M,superfamily_PAD_central,HMMPfam_PAD,superfamily_SSF55909	p.R126W	ENST00000375486.4	37	c.376	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888135	0.91814	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.26067	1.76;2.09;1.76	6.08	6.08	0.98989	Protein-arginine deiminase (PAD), central domain (2);	0.052253	0.85682	D	0.000000	T	0.56543	0.1992	M	0.82323	2.585	0.31844	N	0.62314	D;D	0.89917	1.0;0.999	D;D	0.69654	0.965;0.941	T	0.64249	-0.6452	10	0.87932	D	0	-34.4729	19.2272	0.93822	0.0:0.0:1.0:0.0	.	126;126	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	W	126	ENSP00000364635:R126W;ENSP00000405894:R126W;ENSP00000364630:R126W	ENSP00000364630:R126W	R	-	1	2	PADI2	17295026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.135000	0.57997	2.894000	0.99253	0.655000	0.94253	CGG	-	HMMPfam_PAD_M,superfamily_PAD_central		0.612	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	protein_coding	OTTHUMT00000006624.1	G			17295026	-1	no_errors	NM_007365	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GYS2	2998	genome.wustl.edu	37	12	21693414	21693414	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr12:21693414C>T	ENST00000261195.2	-	14	1993	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	580					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.R580H(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AATCCTTTGGCGGCGTGACTG	0.443																																					Colon(149;9 1820 3690 10544 50424)											1	Substitution - Missense(1)	endometrium(1)	12											154.0	158.0	157.0					12																	21693414		2203	4300	6503	21584681	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1739G>A	12.37:g.21693414C>T	ENSP00000261195:p.Arg580His		21584681	A0AVD8	Missense_Mutation	SNP	HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase	p.R580H	ENST00000261195.2	37	c.1739	CCDS8690.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.348564	0.95807	.	.	ENSG00000111713	ENST00000261195	T	0.73152	-0.72	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89839	0.4001	10	0.87932	D	0	-16.9227	18.6922	0.91588	0.0:1.0:0.0:0.0	.	580	P54840	GYS2_HUMAN	H	580	ENSP00000261195:R580H	ENSP00000261195:R580H	R	-	2	0	GYS2	21584681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.638000	0.83328	2.641000	0.89580	0.650000	0.86243	CGC	-	HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase		0.443	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	protein_coding	OTTHUMT00000402396.1	C	NM_021957		21584681	-1	no_errors	NM_021957	genbank	human	validated	54_36p	missense	SNP	1.000	T
ZNF43	7594	genome.wustl.edu	37	19	21991432	21991432	+	Silent	SNP	A	A	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr19:21991432A>G	ENST00000354959.4	-	4	1576	c.1407T>C	c.(1405-1407)ctT>ctC	p.L469L	ZNF43_ENST00000594012.1_Silent_p.L463L|ZNF43_ENST00000595461.1_Silent_p.L463L|ZNF43_ENST00000598381.1_Silent_p.L463L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGTGTAGTAAGGTTTGAGA	0.383																																																0			19											61.0	62.0	61.0					19																	21991432		2203	4300	6503	21783272	SO:0001819	synonymous_variant	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1407T>C	19.37:g.21991432A>G			21783272	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.L469	ENST00000354959.4	37	c.1407	CCDS12413.2	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.383	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	protein_coding	OTTHUMT00000250380.2	A	NM_003423		21783272	-1	no_errors	NM_003423	genbank	human	validated	54_36p	silent	SNP	0.000	G
ZNF645	158506	genome.wustl.edu	37	X	22291956	22291956	+	Missense_Mutation	SNP	C	C	T	rs371087148		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chrX:22291956C>T	ENST00000323684.1	+	1	892	c.848C>T	c.(847-849)gCg>gTg	p.A283V		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	283	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CAGCATTATGCGCCACCTCCA	0.478																																																0			X						C	VAL/ALA	0,3835		0,0,1632,571	147.0	114.0	125.0		848	-2.2	0.0	X		125	1,6727		0,1,2427,1872	no	missense	ZNF645	NM_152577.3	64	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	283/426	22291956	1,10562	2203	4300	6503	22201877	SO:0001583	missense	158506			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.848C>T	X.37:g.22291956C>T	ENSP00000323348:p.Ala283Val		22201877	A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,HMMSmart_ZnF_C2H2	p.A283V	ENST00000323684.1	37	c.848	CCDS14205.1	X	.	.	.	.	.	.	.	.	.	.	C	7.011	0.556777	0.13436	0.0	1.49E-4	ENSG00000175809	ENST00000323684	T	0.32753	1.44	2.6	-2.19	0.07015	.	0.420734	0.20240	N	0.096309	T	0.11922	0.0290	N	0.12746	0.255	0.09310	N	1	B	0.33198	0.401	B	0.23275	0.045	T	0.12578	-1.0542	10	0.37606	T	0.19	.	7.9318	0.29907	0.0:0.4705:0.0:0.5295	.	283	Q8N7E2	ZN645_HUMAN	V	283	ENSP00000323348:A283V	ENSP00000323348:A283V	A	+	2	0	ZNF645	22201877	0.020000	0.18652	0.000000	0.03702	0.001000	0.01503	0.301000	0.19174	-0.798000	0.04444	0.600000	0.82982	GCG	-	NULL		0.478	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF645	protein_coding	OTTHUMT00000056037.1	C	NM_152577		22201877	+1	no_errors	NM_152577	genbank	human	provisional	54_36p	missense	SNP	0.013	T
PSME2	5721	genome.wustl.edu	37	14	24613441	24613441	+	Missense_Mutation	SNP	C	C	T	rs138061159	byFrequency	TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr14:24613441C>T	ENST00000216802.5	-	8	1096	c.457G>A	c.(457-459)Gtc>Atc	p.V153I	EMC9_ENST00000216799.4_5'Flank|EMC9_ENST00000560403.1_5'Flank|EMC9_ENST00000558200.1_5'Flank|RNF31_ENST00000559275.1_5'Flank|EMC9_ENST00000419198.2_5'Flank|PSME2_ENST00000560410.1_Missense_Mutation_p.V142I|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	153					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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TTGGTCTTGACGGCATTCACC	0.537													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22195	0.0		0.0	False		,,,				2504	0.0															0			14											164.0	165.0	165.0					14																	24613441		2203	4300	6503	23683281	SO:0001583	missense	5721				CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.457G>A	14.37:g.24613441C>T	ENSP00000216802:p.Val153Ile		23683281	Q15129	Missense_Mutation	SNP	superfamily_Prot_act_regA,HMMPfam_PA28_alpha,HMMPfam_PA28_beta	p.V153I	ENST00000216802.5	37	c.457	CCDS9614.1	14	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	20.5	4.001346	0.74818	.	.	ENSG00000100911	ENST00000216802	T	0.36340	1.26	4.56	4.56	0.56223	Proteasome activator pa28, REG beta subunit (2);	0.119750	0.56097	D	0.000033	T	0.28001	0.0690	M	0.67517	2.055	0.58432	D	0.999999	P	0.45986	0.87	B	0.40506	0.331	T	0.09378	-1.0677	10	0.25751	T	0.34	-6.1258	13.0106	0.58729	0.0:1.0:0.0:0.0	.	153	Q9UL46	PSME2_HUMAN	I	153	ENSP00000216802:V153I	ENSP00000216802:V153I	V	-	1	0	PSME2	23683281	0.976000	0.34144	0.979000	0.43373	0.909000	0.53808	2.419000	0.44671	2.525000	0.85131	0.650000	0.86243	GTC	-	superfamily_Prot_act_regA,HMMPfam_PA28_beta		0.537	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME2	protein_coding	OTTHUMT00000071918.3	C	NM_002818		23683281	-1	no_errors	NM_002818	genbank	human	reviewed	54_36p	missense	SNP	0.965	T
ZNF726	730087	genome.wustl.edu	37	19	24115816	24115816	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr19:24115816C>G	ENST00000594466.1	+	4	1003	c.898C>G	c.(898-900)Cta>Gta	p.L300V	CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000322487.7_Missense_Mutation_p.L300V|ZNF726_ENST00000575986.1_Intron|ZNF726_ENST00000334589.5_Intron	NM_001244038.1	NP_001230967.1	A6NNF4	ZN726_HUMAN	zinc finger protein 726	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACCCTCAGCACTAACCATACA	0.418																																																0			19																																								23907656	SO:0001583	missense	730087			DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000594466.1:c.898C>G	19.37:g.24115816C>G	ENSP00000471516:p.Leu300Val		23907656	M0R0X8|Q86Y87	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.L381V	ENST00000594466.1	37	c.1141	CCDS59372.1	19	.	.	.	.	.	.	.	.	.	.	c	0.326	-0.958794	0.02267	.	.	ENSG00000213967	ENST00000322487	T	0.52983	0.64	0.814	0.814	0.18756	.	.	.	.	.	T	0.44705	0.1306	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41610	-0.9499	6	0.72032	D	0.01	.	6.9774	0.24683	0.0:1.0:0.0:0.0	.	.	.	.	V	300	ENSP00000317125:L300V	ENSP00000317125:L300V	L	+	1	2	ZNF726	23907656	0.129000	0.22400	0.097000	0.21041	0.097000	0.18754	0.825000	0.27393	0.183000	0.20059	0.186000	0.17326	CTA	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355		0.418	ZNF726-005	PUTATIVE	not_best_in_genome_evidence|basic|CCDS	protein_coding	LOC730087	protein_coding	OTTHUMT00000466443.1	C	XM_001715134		23907656	+1	no_errors	XM_001726951	genbank	human	model	54_36p	missense	SNP	0.039	G
LMNTD1	160492	genome.wustl.edu	37	12	25562357	25562357	+	IGR	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr12:25562357C>T								RNU4-67P (4995 upstream) : IFLTD1 (66658 downstream)																							ATGCTTAATCCTGAAAGTCTT	0.363																																																0			12																																								25453624	SO:0001628	intergenic_variant	0																															12.37:g.25562357C>T			25453624		Missense_Mutation	SNP	superfamily_Ribosomal protein L39e,HMMPfam_Ribosomal_L39	p.R8K		37	c.23		12																																																																																			-	superfamily_Ribosomal protein L39e	0	0.363					LOC100133222			C			25453624	-1	pseudogene	XM_001723495	genbank	human	model	54_36p	missense	SNP	1.000	T
MYO3A	53904	genome.wustl.edu	37	10	26315381	26315381	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr10:26315381G>T	ENST00000265944.5	+	10	1039	c.873G>T	c.(871-873)gaG>gaT	p.E291D	MYO3A_ENST00000543632.1_Missense_Mutation_p.E291D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	291					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTCAAATTGAGGGCAAAGATG	0.383																																																0			10											90.0	85.0	86.0					10																	26315381		2203	4300	6503	26355387	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.873G>T	10.37:g.26315381G>T	ENSP00000265944:p.Glu291Asp		26355387	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ	p.E291D	ENST00000265944.5	37	c.873	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470331	0.26423	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.13089	2.62;2.62	5.76	-1.17	0.09648	Protein kinase-like domain (1);	0.348277	0.32488	N	0.006034	T	0.11750	0.0286	M	0.68317	2.08	0.30457	N	0.774698	P;P;P	0.46859	0.604;0.47;0.885	B;B;B	0.41036	0.196;0.096;0.346	T	0.28073	-1.0055	10	0.21014	T	0.42	.	6.2257	0.20706	0.5514:0.0:0.3204:0.1283	.	291;291;291	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	D	291	ENSP00000265944:E291D;ENSP00000445909:E291D	ENSP00000265944:E291D	E	+	3	2	MYO3A	26355387	0.831000	0.29352	0.938000	0.37757	0.993000	0.82548	-0.060000	0.11712	-0.406000	0.07588	0.655000	0.94253	GAG	-	superfamily_Kinase_like,superfamily_SSF52540		0.383	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	protein_coding	OTTHUMT00000047259.1	G	NM_017433		26355387	+1	no_errors	NM_017433	genbank	human	reviewed	54_36p	missense	SNP	0.018	T
MYLK2	85366	genome.wustl.edu	37	20	30419861	30419861	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr20:30419861G>A	ENST00000375994.2	+	11	1905	c.1632G>A	c.(1630-1632)gcG>gcA	p.A544A	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.A544A			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	544					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACAACCTGGCGGAGAAAGCCA	0.597																																																0			20											47.0	36.0	40.0					20																	30419861		2202	4300	6502	29883522	SO:0001819	synonymous_variant	85366			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1632G>A	20.37:g.30419861G>A			29883522	Q569L1|Q96I84	Silent	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.A544	ENST00000375994.2	37	c.1632	CCDS13191.1	20																																																																																			-	NULL		0.597	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	protein_coding	OTTHUMT00000078583.2	G	NM_033118		29883522	+1	no_errors	NM_033118	genbank	human	reviewed	54_36p	silent	SNP	0.102	A
GALNT14	79623	genome.wustl.edu	37	2	31168707	31168707	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:31168707G>A	ENST00000349752.5	-	7	1323	c.684C>T	c.(682-684)atC>atT	p.I228I	GALNT14_ENST00000406653.1_Silent_p.I208I|GALNT14_ENST00000420311.2_Silent_p.I193I|GALNT14_ENST00000324589.5_Silent_p.I233I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Silent_p.I195I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	228					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TAATGATATCGATCACAGGGC	0.552																																																0			2											103.0	82.0	89.0					2																	31168707		2203	4300	6503	31022211	SO:0001819	synonymous_variant	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.684C>T	2.37:g.31168707G>A			31022211	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00458	p.I228	ENST00000349752.5	37	c.684	CCDS1773.2	2																																																																																			-	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2		0.552	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	protein_coding	OTTHUMT00000157264.1	G	NM_024572		31022211	-1	no_errors	NM_024572	genbank	human	validated	54_36p	silent	SNP	0.984	A
ELP4	26610	genome.wustl.edu	37	11	31531396	31531396	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr11:31531396G>C	ENST00000350638.5	+	1	100	c.65G>C	c.(64-66)aGc>aCc	p.S22T	IMMP1L_ENST00000533642.1_5'Flank|IMMP1L_ENST00000528161.1_5'Flank|IMMP1L_ENST00000526776.1_5'Flank|IMMP1L_ENST00000278200.1_5'Flank|IMMP1L_ENST00000534812.1_5'Flank|ELP4_ENST00000379163.5_Missense_Mutation_p.S22T|ELP4_ENST00000395934.2_Missense_Mutation_p.S22T|IMMP1L_ENST00000532287.1_5'Flank	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	22					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GCGACAGCCAGCAAGAGCAAC	0.612																																																0			11											52.0	59.0	56.0					11																	31531396		2103	4230	6333	31487972	SO:0001583	missense	26610			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.65G>C	11.37:g.31531396G>C	ENSP00000298937:p.Ser22Thr		31487972	B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	HMMPfam_PAXNEB	p.S22T	ENST00000350638.5	37	c.65	CCDS7875.2	11	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435265	0.43224	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.46063	0.94;0.88;1.47	5.62	3.73	0.42828	.	0.970800	0.08566	N	0.926740	T	0.34077	0.0885	L	0.47716	1.5	0.09310	N	1	B;B;B	0.31290	0.18;0.318;0.089	B;B;B	0.29716	0.031;0.106;0.031	T	0.21245	-1.0251	10	0.13108	T	0.6	-0.1941	8.9531	0.35801	0.179:0.0:0.821:0.0	.	22;22;22	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	T	22	ENSP00000298937:S22T;ENSP00000368461:S22T;ENSP00000379267:S22T	ENSP00000298937:S22T	S	+	2	0	ELP4	31487972	0.002000	0.14202	0.005000	0.12908	0.073000	0.16967	0.874000	0.28065	1.520000	0.48965	0.555000	0.69702	AGC	-	NULL		0.612	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP4	protein_coding	OTTHUMT00000286640.1	G	NM_019040		31487972	+1	no_errors	NM_019040	genbank	human	reviewed	54_36p	missense	SNP	0.014	C
LARGE	9215	genome.wustl.edu	37	22	33700283	33700283	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr22:33700283G>A	ENST00000354992.2	-	13	2233	c.1662C>T	c.(1660-1662)atC>atT	p.I554I	LARGE_ENST00000337431.2_Silent_p.I502I|LARGE_ENST00000397394.2_Silent_p.I554I|LARGE_ENST00000402320.1_Silent_p.I502I|LARGE_ENST00000452586.2_Silent_p.I353I|LARGE_ENST00000437602.2_Silent_p.I554I	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	554					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGGAGTGCTGATGTGCTTCA	0.572																																					Colon(70;397 1175 4573 19089 45288)											0			22											178.0	138.0	152.0					22																	33700283		2203	4300	6503	32030283	SO:0001819	synonymous_variant	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1662C>T	22.37:g.33700283G>A			32030283	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8	p.I554	ENST00000354992.2	37	c.1662	CCDS13912.1	22																																																																																			-	NULL		0.572	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	protein_coding	OTTHUMT00000320515.2	G	NM_133642		32030283	-1	no_errors	NM_004737	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
NRG1	3084	genome.wustl.edu	37	8	32472042	32472042	+	Silent	SNP	T	T	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:32472042T>G	ENST00000405005.3	+	4	411	c.411T>G	c.(409-411)acT>acG	p.T137T	NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Silent_p.T137T|NRG1_ENST00000523079.1_Silent_p.T137T|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Silent_p.T137T|NRG1_ENST00000287842.3_Silent_p.T137T|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Silent_p.T137T|NRG1_ENST00000521670.1_Silent_p.T137T			Q02297	NRG1_HUMAN	neuregulin 1	137					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGATCATCACTGGTATGCCAG	0.428																																																0			8											116.0	114.0	115.0					8																	32472042		2203	4300	6503	32591584	SO:0001819	synonymous_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.411T>G	8.37:g.32472042T>G			32591584	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,HMMPfam_Neuregulin	p.T137	ENST00000405005.3	37	c.411	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	T	10.38	1.335283	0.24253	.	.	ENSG00000157168	ENST00000518206	.	.	.	5.67	3.25	0.37280	.	.	.	.	.	T	0.53045	0.1772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47522	-0.9111	4	.	.	.	6.0E-4	5.3501	0.16030	0.0:0.089:0.1801:0.7308	.	.	.	.	R	16	.	.	L	+	2	0	NRG1	32591584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.410000	0.34691	1.044000	0.40200	0.533000	0.62120	CTG	-	NULL		0.428	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	protein_coding	OTTHUMT00000472504.1	T			32591584	+1	no_errors	NM_013956	genbank	human	reviewed	54_36p	silent	SNP	0.851	G
MMP24	10893	genome.wustl.edu	37	20	33839758	33839758	+	Missense_Mutation	SNP	G	G	A	rs557891491		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr20:33839758G>A	ENST00000246186.6	+	3	531	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MMP24-AS1_ENST00000454184.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	149	Poly-Arg.				cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CACTTAAGCCGTAGGCGGAGA	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21605	0.0		0.0	False		,,,				2504	0.0															0			20											138.0	144.0	142.0					20																	33839758		2029	4186	6215	33303174	SO:0001583	missense	10893			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.446G>A	20.37:g.33839758G>A	ENSP00000246186:p.Arg149His		33303174	B7ZBG8|Q9H440	Missense_Mutation	SNP	NULL	p.V100I	ENST00000246186.6	37	c.298	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669497	0.47677	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.17054	2.3	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);	0.112422	0.64402	D	0.000012	T	0.17492	0.0420	M	0.64997	1.995	0.34728	D	0.729402	B	0.10296	0.003	B	0.09377	0.004	T	0.10894	-1.0610	10	0.35671	T	0.21	.	8.6868	0.34243	0.2356:0.0:0.7644:0.0	.	149	Q9Y5R2	MMP24_HUMAN	H	149;97	ENSP00000246186:R149H	ENSP00000246186:R149H	R	+	2	0	MMP24	33303174	0.998000	0.40836	0.870000	0.34147	0.854000	0.48673	3.501000	0.53325	1.407000	0.46875	0.655000	0.94253	CGT	-	NULL		0.547	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	protein_coding	OTTHUMT00000078851.4	G	NM_006690		33303174	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_006690	genbank	human	reviewed	54_36p	missense	SNP	0.910	A
AZIN2	113451	genome.wustl.edu	37	1	33583593	33583593	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:33583593C>T	ENST00000294517.6	+	11	1707	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	ADC_ENST00000373443.3_Missense_Mutation_p.P374S|ADC_ENST00000398167.1_Missense_Mutation_p.P394S|ADC_ENST00000373441.1_Missense_Mutation_p.P394S|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		374					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CCTGTGGCTGCCGCAACTACA	0.627																																																0			1											68.0	77.0	74.0					1																	33583593		2203	4299	6502	33356180	SO:0001583	missense	113451																														ENST00000294517.6:c.1120C>T	1.37:g.33583593C>T	ENSP00000294517:p.Pro374Ser		33356180	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel,PatternScan_ODR_DC_2_1,PatternScan_ODR_DC_2_2,superfamily_Alanine racemase C-terminal domain-like,HMMPfam_Orn_DAP_Arg_deC	p.P374S	ENST00000294517.6	37	c.1120	CCDS375.1	1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340969	0.60963	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.92	4.0	0.46444	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.64402	D	0.000012	T	0.73690	0.3619	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.78272	-0.2268	10	0.87932	D	0	-21.2337	12.651	0.56761	0.0:0.9173:0.0:0.0827	.	394;279;374	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	S	374;374;394;394	ENSP00000294517:P374S;ENSP00000362542:P374S;ENSP00000381233:P394S;ENSP00000362540:P394S	ENSP00000294517:P374S	P	+	1	0	ADC	33356180	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	7.516000	0.81772	1.198000	0.43158	-0.216000	0.12614	CCG	-	superfamily_Alanine racemase C-terminal domain-like,HMMPfam_Orn_DAP_Arg_deC		0.627	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	protein_coding	OTTHUMT00000011867.1	C			33356180	+1	no_errors	NM_052998	genbank	human	validated	54_36p	missense	SNP	1.000	T
KCNU1	157855	genome.wustl.edu	37	8	36790477	36790477	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:36790477G>T	ENST00000399881.3	+	26	3008	c.2971G>T	c.(2971-2973)Gat>Tat	p.D991Y		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	991					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGGCTCATTAGATCTTTTTGG	0.428																																																0			8											144.0	134.0	137.0					8																	36790477		1846	4100	5946	36909635	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2971G>T	8.37:g.36790477G>T	ENSP00000382770:p.Asp991Tyr		36909635		Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,HMMPfam_BK_channel_a	p.D991Y	ENST00000399881.3	37	c.2971	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	9.649	1.141037	0.21205	.	.	ENSG00000215262	ENST00000399881	T	0.32753	1.44	5.14	2.14	0.27477	.	0.495430	0.15900	U	0.239106	T	0.40372	0.1114	L	0.48642	1.525	0.09310	N	0.999998	D	0.71674	0.998	P	0.60789	0.879	T	0.16394	-1.0404	10	0.87932	D	0	-3.9376	7.6794	0.28505	0.2959:0.0:0.7041:0.0	.	991	A8MYU2	KCNU1_HUMAN	Y	991	ENSP00000382770:D991Y	ENSP00000382770:D991Y	D	+	1	0	KCNU1	36909635	0.991000	0.36638	0.020000	0.16555	0.032000	0.12392	0.783000	0.26802	0.196000	0.20367	0.655000	0.94253	GAT	-	NULL		0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	protein_coding	OTTHUMT00000376631.1	G	NM_001031836		36909635	+1	no_errors	NM_001031836	genbank	human	validated	54_36p	missense	SNP	0.520	T
DDX17	10521	genome.wustl.edu	37	22	38883957	38883957	+	Silent	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr22:38883957C>T	ENST00000396821.3	-	12	1710	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	DDX17_ENST00000381633.3_Silent_p.L460L|DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000432525.1_5'Flank	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	537	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TGGCCTCTTCCAGCACTTTGA	0.547																																					Ovarian(55;1085 1454 6392 21425)											0			22											152.0	133.0	139.0					22																	38883957		2203	4300	6503	37213903	SO:0001819	synonymous_variant	10521			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1611G>A	22.37:g.38883957C>T			37213903	B1AHM0|Q69YT1|Q6ICD6	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C	p.L537	ENST00000396821.3	37	c.1611	CCDS46706.1	22																																																																																			-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.547	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	protein_coding	OTTHUMT00000321476.2	C	NM_030881		37213903	-1	no_errors	NM_001098504	genbank	human	reviewed	54_36p	silent	SNP	0.891	T
CACNA1I	8911	genome.wustl.edu	37	22	40036993	40036993	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr22:40036993G>A	ENST00000402142.3	+	6	862	c.862G>A	c.(862-864)Gag>Aag	p.E288K	CACNA1I_ENST00000401624.1_Missense_Mutation_p.E288K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E288K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E288K|CACNA1I_ENST00000336649.4_Missense_Mutation_p.E288K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E288K	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	288					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCGCTCAAGGAGCAGGGCCG	0.622																																																0			22											54.0	59.0	58.0					22																	40036993		2063	4206	6269	38366939	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.862G>A	22.37:g.40036993G>A	ENSP00000385019:p.Glu288Lys		38366939	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans	p.E288K	ENST00000402142.3	37	c.862	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594556	0.66219	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96992	-4.18;-4.13;-4.16;-4.12;-4.2;-4.1	4.99	4.99	0.66335	Ion transport (1);	0.059613	0.64402	D	0.000004	D	0.96962	0.9008	M	0.66506	2.035	0.58432	D	0.999995	P;D;P;D	0.56746	0.94;0.971;0.897;0.977	P;P;P;P	0.55011	0.641;0.716;0.488;0.766	D	0.96386	0.9285	10	0.36615	T	0.2	.	18.2755	0.90081	0.0:0.0:1.0:0.0	.	288;288;288;288	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	K	288	ENSP00000385019:E288K;ENSP00000384093:E288K;ENSP00000383887:E288K;ENSP00000385680:E288K;ENSP00000337829:E288K;ENSP00000383028:E288K	ENSP00000337829:E288K	E	+	1	0	CACNA1I	38366939	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.897000	0.69831	2.327000	0.79052	0.563000	0.77884	GAG	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	protein_coding	OTTHUMT00000321290.1	G	NM_001003406		38366939	+1	no_errors	NM_021096	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ATP4A	495	genome.wustl.edu	37	19	36053474	36053474	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr19:36053474G>A	ENST00000262623.3	-	4	311	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	95					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGGGTGCCCCGTGGTGGCCGC	0.701																																																0			19											19.0	19.0	19.0					19																	36053474		2198	4298	6496	40745314	SO:0001583	missense	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.283C>T	19.37:g.36053474G>A	ENSP00000262623:p.Arg95Trp		40745314	O00738	Missense_Mutation	SNP	HMMPfam_H-K_ATPase_N,HMMPfam_Cation_ATPase_N,superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Cation_ATPase_C	p.R95W	ENST00000262623.3	37	c.283	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	g	14.65	2.599768	0.46318	.	.	ENSG00000105675	ENST00000262623	D	0.89050	-2.46	3.53	-2.61	0.06171	ATPase, P-type cation-transporter, N-terminal (2);	1.279830	0.06414	N	0.721226	D	0.91147	0.7212	L	0.55990	1.75	0.09310	N	1	D	0.58268	0.982	P	0.60541	0.876	D	0.83410	0.0027	10	0.87932	D	0	.	11.1321	0.48354	0.0:0.0:0.4022:0.5978	.	95	P20648	ATP4A_HUMAN	W	95	ENSP00000262623:R95W	ENSP00000262623:R95W	R	-	1	2	ATP4A	40745314	0.000000	0.05858	0.148000	0.22405	0.658000	0.38924	-0.606000	0.05654	-0.133000	0.11537	0.465000	0.42564	CGG	-	HMMPfam_Cation_ATPase_N,superfamily_SSF81665		0.701	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	protein_coding	OTTHUMT00000109470.2	G	NM_000704		40745314	-1	no_errors	NM_000704	genbank	human	reviewed	54_36p	missense	SNP	0.016	A
HECW1	23072	genome.wustl.edu	37	7	43484247	43484247	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:43484247G>A	ENST00000395891.2	+	11	2081	c.1476G>A	c.(1474-1476)acG>acA	p.T492T	HECW1_ENST00000453890.1_Silent_p.T492T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	492	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGAAGCAACGACCCAGAGCC	0.647																																																0			7											16.0	20.0	18.0					7																	43484247		2065	4193	6258	43450772	SO:0001819	synonymous_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1476G>A	7.37:g.43484247G>A			43450772	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT	p.T492	ENST00000395891.2	37	c.1476	CCDS5469.2	7																																																																																			-	NULL		0.647	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43450772	+1	no_errors	NM_015052	genbank	human	validated	54_36p	silent	SNP	0.000	A
SNTG1	54212	genome.wustl.edu	37	8	51351160	51351160	+	Splice_Site	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:51351160G>T	ENST00000522124.1	+	5	880		c.e5+1		SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AAGCATAAAGGTAGCCTGCCT	0.388																																																0			8											95.0	78.0	84.0					8																	51351160		2202	4300	6502	51513713	SO:0001630	splice_region_variant	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.219+1G>T	8.37:g.51351160G>T			51513713	Q2M3Q0|Q9NY98	Splice_Site	SNP	-	e3+1	ENST00000522124.1	37	c.219+1	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574131	0.65765	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.458	0.55716	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNTG1	51513713	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.215000	0.65241	1.991000	0.58162	0.650000	0.86243	.	-	-		0.388	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	protein_coding	OTTHUMT00000377964.1	G		Intron	51513713	+1	no_errors	NM_018967	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	X	51664938	51664938	+	IGR	SNP	C	C	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chrX:51664938C>A								MAGED1 (19485 upstream) : RP11-114H20.1 (129017 downstream)																							AATCACACAGCAGGAAAGAAA	0.413																																																0			X																																								51681678	SO:0001628	intergenic_variant	0																															X.37:g.51664938C>A			51681678		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.413					LOC100129708			C			51681678	-1	pseudogene	XR_042332	genbank	human	model	54_36p	rna	SNP	1.000	A
GPR32	2854	genome.wustl.edu	37	19	51274851	51274851	+	Missense_Mutation	SNP	A	A	C	rs201404376		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr19:51274851A>C	ENST00000270590.4	+	1	1131	c.994A>C	c.(994-996)Act>Cct	p.T332P		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCAGTCTTTGACTTCTGCCCT	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)											0			19											66.0	71.0	69.0					19																	51274851		2203	4298	6501	55966663	SO:0001583	missense	2854			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.994A>C	19.37:g.51274851A>C	ENSP00000270590:p.Thr332Pro		55966663	Q502U7|Q6NWS5	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T332P	ENST00000270590.4	37	c.994	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.066505	0.00382	.	.	ENSG00000142511	ENST00000270590	T	0.36699	1.24	2.71	-0.781	0.10965	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	9	0.02654	T	1	.	3.6506	0.08202	0.205:0.5623:0.0:0.2327	.	332	O75388	GPR32_HUMAN	P	332	ENSP00000270590:T332P	ENSP00000270590:T332P	T	+	1	0	GPR32	55966663	0.000000	0.05858	0.025000	0.17156	0.653000	0.38743	0.089000	0.15002	-0.262000	0.09392	-0.755000	0.03482	ACT	-	superfamily_SSF81321		0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	protein_coding	OTTHUMT00000465016.1	A			55966663	+1	no_errors	NM_001506	genbank	human	provisional	54_36p	missense	SNP	0.010	C
SERPINB8	5271	genome.wustl.edu	37	18	61650840	61650840	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr18:61650840G>C	ENST00000397985.2	+	5	708	c.452G>C	c.(451-453)gGg>gCg	p.G151A	SERPINB8_ENST00000353706.2_Missense_Mutation_p.G151A|SERPINB8_ENST00000397988.3_Missense_Mutation_p.G151A|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	151					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTGGATGCTGGGACAGTCGAT	0.398																																																0			18											123.0	115.0	118.0					18																	61650840		2203	4300	6503	59801820	SO:0001583	missense	5271			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.452G>C	18.37:g.61650840G>C	ENSP00000381072:p.Gly151Ala		59801820	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN	p.G151A	ENST00000397985.2	37	c.452	CCDS11991.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.85|15.85	2.954920|2.954920	0.53293|0.53293	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827|ENST00000295211	D;D;D;D|D	0.83673|0.83591	-1.75;-1.75;-1.75;-1.75|-1.74	5.65|5.65	4.74|4.74	0.60224|0.60224	Serpin domain (3);|.	0.044733|0.044733	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.91168|0.91168	0.7218|0.7218	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	B;B|.	0.33739|.	0.422;0.422|.	B;B|.	0.43445|.	0.42;0.42|.	D|D	0.91939|0.91939	0.5561|0.5561	10|8	0.87932|0.66056	D|D	0|0.02	.|.	15.9883|15.9883	0.80179|0.80179	0.0:0.1337:0.8663:0.0|0.0:0.1337:0.8663:0.0	.|.	151;151|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	A|R	151|93	ENSP00000381072:G151A;ENSP00000331368:G151A;ENSP00000381075:G151A;ENSP00000393456:G151A|ENSP00000295211:G93R	ENSP00000331368:G151A|ENSP00000295211:G93R	G|G	+|+	2|1	0|0	SERPINB8|SERPINB8	59801820|59801820	1.000000|1.000000	0.71417|0.71417	0.292000|0.292000	0.24919|0.24919	0.050000|0.050000	0.14768|0.14768	6.364000|6.364000	0.73086|0.73086	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|GGA	-	HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN		0.398	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB8	protein_coding	OTTHUMT00000134014.1	G	NM_001031848		59801820	+1	no_errors	NM_002640	genbank	human	validated	54_36p	missense	SNP	0.688	C
NRXN2	9379	genome.wustl.edu	37	11	64415771	64415771	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr11:64415771T>G	ENST00000377551.1	-	16	3534	c.3323A>C	c.(3322-3324)cAg>cCg	p.Q1108P	NRXN2_ENST00000409571.1_Missense_Mutation_p.Q1101P|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.Q1108P|NRXN2_ENST00000377559.3_Missense_Mutation_p.Q1068P			Q9P2S2	NRX2A_HUMAN	neurexin 2	1108	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCAGACGCCCTGGTTGGCACA	0.622																																																0			11											103.0	90.0	94.0					11																	64415771		2201	4297	6498	64172347	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3323A>C	11.37:g.64415771T>G	ENSP00000366774:p.Gln1108Pro		64172347	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294	p.Q1108P	ENST00000377551.1	37	c.3323	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690127	0.68271	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.34	3.18	0.36537	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.42420	U	0.000702	T	0.78886	0.4354	M	0.86028	2.79	0.48087	D	0.999589	D;D;D	0.65815	0.994;0.995;0.976	D;P;P	0.71656	0.974;0.862;0.559	T	0.77151	-0.2693	10	0.72032	D	0.01	.	4.916	0.13846	0.1876:0.0:0.1952:0.6172	.	1068;1108;854	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	P	1108;1068;1108;1068;1101	ENSP00000366774:Q1108P;ENSP00000366782:Q1068P;ENSP00000265459:Q1108P;ENSP00000386416:Q1101P	ENSP00000265459:Q1108P	Q	-	2	0	NRXN2	64172347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.528000	0.60580	0.683000	0.31428	0.533000	0.62120	CAG	-	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00181,HMMPfam_EGF		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	protein_coding	OTTHUMT00000104967.3	T	NM_015080		64172347	-1	no_errors	NM_015080	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ABCA8	10351	genome.wustl.edu	37	17	66871503	66871503	+	Missense_Mutation	SNP	C	C	G	rs372405188		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr17:66871503C>G	ENST00000269080.2	-	35	4546	c.4409G>C	c.(4408-4410)gGc>gCc	p.G1470A	ABCA8_ENST00000430352.2_Missense_Mutation_p.G1510A|ABCA8_ENST00000586539.1_Missense_Mutation_p.G1510A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1470	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTAATCTTTGCCAAATTTGCT	0.468																																																0			17											91.0	82.0	85.0					17																	66871503		2203	4300	6503	64383098	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4409G>C	17.37:g.66871503C>G	ENSP00000269080:p.Gly1470Ala		64383098	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran	p.G1470A	ENST00000269080.2	37	c.4409	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392338	0.83011	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.96802	-4.13;-4.13	5.25	4.29	0.51040	ABC transporter-like (1);	0.000000	0.49305	D	0.000147	D	0.96525	0.8866	L	0.37800	1.135	0.45676	D	0.998595	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96726	0.9536	10	0.62326	D	0.03	.	13.2167	0.59865	0.0:0.923:0.0:0.077	.	1510;1510;1470	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	A	1470;1510	ENSP00000269080:G1470A;ENSP00000402814:G1510A	ENSP00000269080:G1470A	G	-	2	0	ABCA8	64383098	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	4.390000	0.59646	1.364000	0.46038	0.655000	0.94253	GGC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.468	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	protein_coding	OTTHUMT00000450172.1	C	NM_007168		64383098	-1	no_errors	NM_007168	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
CYP7B1	9420	genome.wustl.edu	37	8	65528500	65528500	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:65528500C>T	ENST00000310193.3	-	3	771	c.598G>A	c.(598-600)Gtt>Att	p.V200I	CYP7B1_ENST00000523954.1_5'Flank	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	200					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CAAACAATAACTTTTCCATAT	0.328																																																0			8											49.0	49.0	49.0					8																	65528500		2203	4299	6502	65691054	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.598G>A	8.37:g.65528500C>T	ENSP00000310721:p.Val200Ile		65691054	B2RN07|Q9UNF5	Missense_Mutation	SNP	superfamily_Cytochrome P450,HMMPfam_p450	p.V200I	ENST00000310193.3	37	c.598	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	C	0	-2.850046	0.00066	.	.	ENSG00000172817	ENST00000310193	D	0.84873	-1.91	5.32	-10.6	0.00265	.	5.857880	0.00550	N	0.000259	T	0.52757	0.1754	N	0.00677	-1.265	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.53648	-0.8409	9	.	.	.	-22.8096	4.3998	0.11381	0.3549:0.3119:0.2646:0.0685	.	200	O75881	CP7B1_HUMAN	I	200	ENSP00000310721:V200I	.	V	-	1	0	CYP7B1	65691054	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.749000	0.01824	-5.807000	0.00009	-1.990000	0.00449	GTT	-	superfamily_Cytochrome P450		0.328	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	protein_coding	OTTHUMT00000378550.1	C			65691054	-1	no_errors	NM_004820	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
SKOR1	390598	genome.wustl.edu	37	15	68125541	68125541	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr15:68125541A>G	ENST00000380035.2	+	8	2807	c.2749A>G	c.(2749-2751)Aac>Gac	p.N917D	RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000554240.1_Missense_Mutation_p.N878D|SKOR1_ENST00000341418.5_Missense_Mutation_p.N820D|RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000389002.1_Missense_Mutation_p.N873D|SKOR1_ENST00000554054.1_Missense_Mutation_p.N889D			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	917					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TACCCTGTGTAACGAACTCGA	0.622																																																0			15											55.0	49.0	51.0					15																	68125541		2200	4298	6498	65912595	SO:0001583	missense	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2749A>G	15.37:g.68125541A>G	ENSP00000369374:p.Asn917Asp		65912595	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind,superfamily_SAND_like,HMMPfam_c-SKI_SMAD_bind	p.N873D	ENST00000380035.2	37	c.2617		15	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287949	0.80803	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.74209	-0.82;-0.78;-0.78;-0.78;-0.78	5.34	5.34	0.76211	.	0.174514	0.49305	D	0.000159	T	0.72244	0.3436	N	0.19112	0.55	0.32295	N	0.565807	D	0.63046	0.992	P	0.59012	0.85	T	0.73288	-0.4030	10	0.21014	T	0.42	-33.6305	14.4456	0.67347	1.0:0.0:0.0:0.0	.	873	P84550-3	.	D	820;878;889;917;873	ENSP00000343200:N820D;ENSP00000451193:N878D;ENSP00000452361:N889D;ENSP00000369374:N917D;ENSP00000373654:N873D	ENSP00000343200:N820D	N	+	1	0	SKOR1	65912595	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.552000	0.82192	2.146000	0.66826	0.379000	0.24179	AAC	-	NULL		0.622	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	LBXCOR1	protein_coding	OTTHUMT00000410832.1	A	NM_001031807		65912595	+1	no_errors	NM_001031807	genbank	human	provisional	54_36p	missense	SNP	1.000	G
TYW1B	441250	genome.wustl.edu	37	7	72277949	72277949	+	RNA	SNP	C	C	A	rs146105977	byFrequency	TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:72277949C>A	ENST00000435769.2	-	0	555				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TTTTTGCCAACCTGCGAGGAA	0.522																																																0			7											46.0	40.0	42.0					7																	72277949		692	1591	2283	71915885			0			BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72277949C>A			71915885	A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	HMMPfam_Flavodoxin_1,superfamily_SSF52218	p.V145F	ENST00000435769.2	37	c.433		7																																																																																			-	HMMPfam_Flavodoxin_1,superfamily_SSF52218		0.522	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	ENSG00000188463	polymorphic_pseudogene	OTTHUMT00000347346.2	C	NM_001145440		71915885	-1	no_errors	ENST00000389196	ensembl	human	known	54_36p	missense	SNP	1.000	A
DIS3	22894	genome.wustl.edu	37	13	73345227	73345227	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr13:73345227G>A	ENST00000377767.4	-	12	1762	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	DIS3_ENST00000545453.1_Silent_p.D392D|DIS3_ENST00000377780.4_Silent_p.D524D	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	554					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACCTGTCCACGTCACATTTTA	0.358										Multiple Myeloma(4;0.011)																																						0			13											120.0	114.0	116.0					13																	73345227		2203	4300	6503	72243228	SO:0001819	synonymous_variant	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1662C>T	13.37:g.73345227G>A			72243228	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	superfamily_PIN domain-like,HMMSmart_SM00670,HMMPfam_RNB,PatternScan_RIBONUCLEASE_II	p.D554	ENST00000377767.4	37	c.1662	CCDS9447.1	13																																																																																			-	HMMPfam_RNB		0.358	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	protein_coding	OTTHUMT00000045250.2	G	NM_014953		72243228	-1	no_errors	NM_014953	genbank	human	validated	54_36p	silent	SNP	0.993	A
KCNQ5	56479	genome.wustl.edu	37	6	73787107	73787107	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr6:73787107G>A	ENST00000370398.1	+	4	788	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	KCNQ5_ENST00000355194.4_Missense_Mutation_p.A227T|KCNQ5_ENST00000370392.1_Missense_Mutation_p.A227T|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A227T|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A227T|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A227T|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A227T|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A227T	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	227					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TAATATTTTTGCCACGTCTGC	0.458																																					GBM(142;1375 1859 14391 23261 44706)											0			6											106.0	98.0	101.0					6																	73787107		2203	4300	6503	73843828	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.679G>A	6.37:g.73787107G>A	ENSP00000359425:p.Ala227Thr		73843828	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel	p.A227T	ENST00000370398.1	37	c.679	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.694970	0.96793	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;1.0;0.999;0.996;1.0;0.999	D;D;D;D;D;D	0.83275	0.92;0.994;0.991;0.986;0.996;0.987	D	0.99868	1.1092	10	0.87932	D	0	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	227;227;227;227;227;227	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	T	227	ENSP00000345055:A227T;ENSP00000347326:A227T;ENSP00000359425:A227T;ENSP00000359419:A227T;ENSP00000385501:A227T;ENSP00000347853:A227T;ENSP00000384453:A227T;ENSP00000409861:A227T	ENSP00000345055:A227T	A	+	1	0	KCNQ5	73843828	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.821000	0.97095	0.650000	0.86243	GCC	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.458	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	protein_coding	OTTHUMT00000041198.3	G	NM_019842		73843828	+1	no_errors	NM_019842	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RASGRF1	5923	genome.wustl.edu	37	15	79350726	79350726	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr15:79350726G>A	ENST00000419573.3	-	3	755	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	RASGRF1_ENST00000558480.2_Missense_Mutation_p.R161W|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	161					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCTGCTGCCGAAGCTGCTTG	0.597																																																0			15											122.0	99.0	107.0					15																	79350726		2196	4293	6489	77137781	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.481C>T	15.37:g.79350726G>A	ENSP00000405963:p.Arg161Trp		77137781	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF	p.R161W	ENST00000419573.3	37	c.481	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196761	0.79015	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.46063	0.88	4.59	3.63	0.41609	.	0.000000	0.64402	D	0.000003	T	0.56949	0.2020	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.959;0.987;0.991;0.996	T	0.60052	-0.7338	10	0.87932	D	0	.	11.9043	0.52701	0.0:0.0:0.8262:0.1738	.	161;161;161;161	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	W	161	ENSP00000405963:R161W	ENSP00000378224:R161W	R	-	1	2	RASGRF1	77137781	1.000000	0.71417	0.998000	0.56505	0.754000	0.42855	4.014000	0.57145	2.366000	0.80165	0.542000	0.68232	CGG	-	NULL		0.597	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	protein_coding	OTTHUMT00000291371.3	G	NM_002891		77137781	-1	no_errors	NM_002891	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
AAMDC	28971	genome.wustl.edu	37	11	77580839	77580839	+	Silent	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr11:77580839C>T	ENST00000526415.1	+	4	377	c.204C>T	c.(202-204)ggC>ggT	p.G68G	RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000525409.1_Intron|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000532481.1_Silent_p.G68G|AAMDC_ENST00000393427.2_Silent_p.G68G|AAMDC_ENST00000533193.1_Silent_p.G114G|AAMDC_ENST00000525034.1_Silent_p.G87G|AAMDC_ENST00000304716.8_Silent_p.G68G|AAMDC_ENST00000527134.1_Silent_p.G68G			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	68	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											TTGTGATTGGCCGAGGGATGA	0.507																																																0			11											333.0	310.0	318.0					11																	77580839		2200	4292	6492	77258487	SO:0001819	synonymous_variant	28971			BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 67"""	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.204C>T	11.37:g.77580839C>T			77258487	Q96AQ4|Q9Y6B1	Silent	SNP	superfamily_Hypothetical protein MT938 (MTH938),HMMPfam_DUF498	p.G68	ENST00000526415.1	37	c.204	CCDS8254.1	11																																																																																			-	superfamily_Hypothetical protein MT938 (MTH938),HMMPfam_DUF498		0.507	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C11orf67	protein_coding	OTTHUMT00000390976.1	C	NM_024684		77258487	+1	no_errors	NM_024684	genbank	human	predicted	54_36p	silent	SNP	1.000	T
CCDC158	339965	genome.wustl.edu	37	4	77272902	77272902	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr4:77272902A>T	ENST00000388914.3	-	16	2661	c.2509T>A	c.(2509-2511)Tta>Ata	p.L837I		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	837										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGAAGTTTTAAGCGCACTGAT	0.328																																																0			4											152.0	132.0	138.0					4																	77272902		1873	4128	6001	77491926	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2509T>A	4.37:g.77272902A>T	ENSP00000373566:p.Leu837Ile		77491926	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	NULL	p.L837I	ENST00000388914.3	37	c.2509	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336412	0.60963	.	.	ENSG00000163749	ENST00000388914	T	0.40476	1.03	5.86	3.76	0.43208	.	0.000000	0.46758	D	0.000278	T	0.32526	0.0832	L	0.27053	0.805	0.80722	D	1	P	0.51147	0.942	P	0.49953	0.627	T	0.05419	-1.0886	10	0.24483	T	0.36	.	5.4069	0.16326	0.3139:0.0:0.6861:0.0	.	837	Q5M9N0	CD158_HUMAN	I	837	ENSP00000373566:L837I	ENSP00000373566:L837I	L	-	1	2	CCDC158	77491926	0.998000	0.40836	1.000000	0.80357	0.763000	0.43281	1.376000	0.34306	1.598000	0.50083	-0.248000	0.11899	TTA	-	NULL		0.328	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ25770	protein_coding	OTTHUMT00000362694.2	A	NM_001042784		77491926	-1	no_errors	NM_001042784	genbank	human	validated	54_36p	missense	SNP	0.999	T
TYR	7299	genome.wustl.edu	37	11	89028423	89028423	+	Silent	SNP	A	A	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr11:89028423A>G	ENST00000263321.5	+	5	1981	c.1479A>G	c.(1477-1479)gcA>gcG	p.A493A		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	493					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCCTGCTGGCAGGGCTTGTGA	0.527																																																0			11											38.0	40.0	40.0					11																	89028423		2201	4299	6500	88668071	SO:0001819	synonymous_variant	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1479A>G	11.37:g.89028423A>G			88668071	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	superfamily_Di-copper centre-containing domain,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2	p.A493	ENST00000263321.5	37	c.1479	CCDS8284.1	11																																																																																			-	NULL		0.527	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	protein_coding	OTTHUMT00000394045.2	A	NM_000372		88668071	+1	no_errors	NM_000372	genbank	human	reviewed	54_36p	silent	SNP	0.000	G
SERPINA4	5267	genome.wustl.edu	37	14	95035835	95035835	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr14:95035835T>A	ENST00000557004.1	+	5	1608	c.1187T>A	c.(1186-1188)aTc>aAc	p.I396N	SERPINA4_ENST00000555095.1_Missense_Mutation_p.I396N|SERPINA4_ENST00000298841.5_Missense_Mutation_p.I396N|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	396					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AATCGCCACATCCTGCGATTC	0.582																																																0			14											106.0	82.0	90.0					14																	95035835		2203	4300	6503	94105588	SO:0001583	missense	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1187T>A	14.37:g.95035835T>A	ENSP00000450838:p.Ile396Asn		94105588	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN	p.I396N	ENST00000557004.1	37	c.1187	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	T	9.192	1.026225	0.19512	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.83419	-1.72;-1.72;-1.72	4.63	-0.979	0.10276	Serpin domain (3);	1.705140	0.03444	N	0.209635	T	0.74619	0.3740	N	0.17872	0.535	0.09310	N	0.999999	P;B	0.42203	0.773;0.124	P;B	0.44422	0.449;0.166	T	0.62863	-0.6764	10	0.17369	T	0.5	.	9.538	0.39235	0.0:0.4174:0.0:0.5826	.	396;396	B2R815;P29622	.;KAIN_HUMAN	N	396	ENSP00000450838:I396N;ENSP00000451172:I396N;ENSP00000298841:I396N	ENSP00000298841:I396N	I	+	2	0	SERPINA4	94105588	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	0.126000	0.15769	-0.045000	0.13468	0.459000	0.35465	ATC	-	superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN		0.582	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	protein_coding	OTTHUMT00000410718.1	T	NM_006215		94105588	+1	no_errors	NM_006215	genbank	human	provisional	54_36p	missense	SNP	0.000	A
OR4F13P	390651	genome.wustl.edu	37	15	102389425	102389425	+	RNA	SNP	T	T	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr15:102389425T>C	ENST00000560066.1	+	0	952					NR_046417.1				olfactory receptor, family 4, subfamily F, member 13 pseudogene																		CACAAATACCTATAAACTGCA	0.413																																																0			15																																								100206948			0			AB065564, AY792621		15q26.3	2012-08-09			ENSG00000214344	ENSG00000214344		"""GPCR / Class A : Olfactory receptors"""	15076	pseudogene	pseudogene							Standard	NR_046417		Approved		uc021szj.1		OTTHUMG00000154399		15.37:g.102389425T>C			100206948		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.Y154H	ENST00000560066.1	37	c.460		15																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.413	OR4F13P-002	KNOWN	basic	processed_transcript	OR4F13P	pseudogene	OTTHUMT00000417595.1	T	NR_046417		100206948	+1	no_errors	ENST00000369688	ensembl	human	known	54_36p	missense	SNP	0.068	C
MYH15	22989	genome.wustl.edu	37	3	108163528	108163528	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr3:108163528G>A	ENST00000273353.3	-	23	2730	c.2674C>T	c.(2674-2676)Ctc>Ttc	p.L892F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	892						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCTGAGTGAGGGATACTTGC	0.413																																																0			3											112.0	104.0	106.0					3																	108163528		1874	4113	5987	109646218	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2674C>T	3.37:g.108163528G>A	ENSP00000273353:p.Leu892Phe		109646218		Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Spectrin repeat	p.L892F	ENST00000273353.3	37	c.2674	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927277	0.34002	.	.	ENSG00000144821	ENST00000273353	D	0.87179	-2.22	4.91	4.04	0.47022	.	.	.	.	.	D	0.86301	0.5900	M	0.80332	2.49	0.43126	D	0.994859	B	0.18741	0.03	B	0.24394	0.053	D	0.83549	0.0100	9	0.52906	T	0.07	.	8.216	0.31511	0.2599:0.0:0.7401:0.0	.	892	Q9Y2K3	MYH15_HUMAN	F	892	ENSP00000273353:L892F	ENSP00000273353:L892F	L	-	1	0	MYH15	109646218	1.000000	0.71417	0.219000	0.23793	0.966000	0.64601	1.496000	0.35638	1.202000	0.43218	0.650000	0.86243	CTC	-	NULL		0.413	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	protein_coding	OTTHUMT00000353935.1	G	XM_036988		109646218	-1	no_errors	NM_014981	genbank	human	validated	54_36p	missense	SNP	0.885	A
RPL7AP30	441034	genome.wustl.edu	37	4	113709784	113709784	+	IGR	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr4:113709784G>T								Y_RNA (32711 upstream) : ANK2 (29480 downstream)																							CAGGGCCTGGGTGAACTGGTT	0.557																																																0			4																																								113929233	SO:0001628	intergenic_variant	441034																															4.37:g.113709784G>T			113929233		RNA	SNP	-	NULL		37	NULL		4																																																																																			-	-	0	0.557					LOC441034			G			113929233	-1	pseudogene	XR_016809	genbank	human	model	54_36p	rna	SNP	1.000	T
ENPP2	5168	genome.wustl.edu	37	8	120633758	120633758	+	Splice_Site	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:120633758G>T	ENST00000075322.6	-	4	352	c.294C>A	c.(292-294)gcC>gcA	p.A98A	ENPP2_ENST00000522826.1_Splice_Site_p.A98A|ENPP2_ENST00000259486.6_Splice_Site_p.A98A|ENPP2_ENST00000427067.2_Splice_Site_p.A94A	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	98	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCCAGCCACGGGCTAAAATCA	0.438																																					Melanoma(20;305 879 2501 4818 31020)											0			8											92.0	90.0	91.0					8																	120633758		2203	4300	6503	120702939	SO:0001630	splice_region_variant	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.293-1C>A	8.37:g.120633758G>T			120702939	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain,PatternScan_SMB_1,superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest,superfamily_His-Me finger endonucleases,HMMSmart_SM00477,HMMPfam_Endonuclease_NS	p.A98	ENST00000075322.6	37	c.294	CCDS34936.1	8																																																																																			-	HMMSmart_SM00201,HMMPfam_Somatomedin_B		0.438	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	protein_coding	OTTHUMT00000381390.1	G		Silent	120702939	-1	no_errors	NM_006209	genbank	human	reviewed	54_36p	silent	SNP	0.991	T
SPAM1	6677	genome.wustl.edu	37	7	123593844	123593844	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:123593844T>C	ENST00000439500.1	+	4	833	c.220T>C	c.(220-222)Tct>Cct	p.S74P	SPAM1_ENST00000340011.5_Missense_Mutation_p.S74P|SPAM1_ENST00000460182.1_Missense_Mutation_p.S74P|SPAM1_ENST00000223028.7_Missense_Mutation_p.S74P|SPAM1_ENST00000402183.2_Missense_Mutation_p.S74P	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	74					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGCCTCTTCTCTTTCATAGG	0.433																																																0			7											44.0	43.0	43.0					7																	123593844		2203	4299	6502	123381080	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.220T>C	7.37:g.123593844T>C	ENSP00000402123:p.Ser74Pro		123381080	Q8TC30	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat	p.S74P	ENST00000439500.1	37	c.220	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	T	7.540	0.660518	0.14645	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.95	-0.851	0.10716	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.199030	0.46145	D	0.000314	T	0.23766	0.0575	L	0.56769	1.78	0.20926	N	0.999829	B;B	0.13145	0.003;0.007	B;B	0.22152	0.024;0.038	T	0.17349	-1.0372	10	0.40728	T	0.16	-23.4322	4.1934	0.10431	0.3181:0.2462:0.0:0.4357	.	74;74	Q8TC30;P38567	.;HYALP_HUMAN	P	74	ENSP00000386028:S74P;ENSP00000391491:S74P;ENSP00000417934:S74P;ENSP00000345849:S74P;ENSP00000402123:S74P;ENSP00000223028:S74P	ENSP00000223028:S74P	S	+	1	0	SPAM1	123381080	0.000000	0.05858	0.278000	0.24718	0.176000	0.22953	-0.362000	0.07602	-0.715000	0.04968	-3.208000	0.00054	TCT	-	HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat		0.433	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	protein_coding	OTTHUMT00000348309.1	T			123381080	+1	no_errors	NM_003117	genbank	human	reviewed	54_36p	missense	SNP	0.087	C
THSD7B	80731	genome.wustl.edu	37	2	138400154	138400154	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:138400154C>G	ENST00000409968.1	+	21	4074	c.3896C>G	c.(3895-3897)aCc>aGc	p.T1299S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.T1271S|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1302S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1301	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCCCAGTGACCCCCTGCTAC	0.488																																																0			2											81.0	85.0	84.0					2																	138400154		1895	4111	6006	138116624	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3896C>G	2.37:g.138400154C>G	ENSP00000387145:p.Thr1299Ser		138116624		Missense_Mutation	SNP	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1	p.T1270S	ENST00000409968.1	37	c.3809		2	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224517	0.22457	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.51817	0.69;0.69;0.69	5.33	3.34	0.38264	.	0.317244	0.38548	N	0.001651	T	0.17023	0.0409	N	0.02181	-0.65	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08249	-1.0731	10	0.09338	T	0.73	.	7.6557	0.28373	0.3235:0.545:0.1316:0.0	.	1271	C9JKN6	.	S	1299;1302;1271	ENSP00000387145:T1299S;ENSP00000272643:T1302S;ENSP00000413841:T1271S	ENSP00000272643:T1302S	T	+	2	0	THSD7B	138116624	0.876000	0.30132	1.000000	0.80357	0.999000	0.98932	0.827000	0.27421	1.438000	0.47492	0.655000	0.94253	ACC	-	HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_TSP-1 type 1 repeat		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9		138116624	+1	no_errors	NM_001080427	genbank	human	provisional	54_36p	missense	SNP	0.997	G
ZNF251	90987	genome.wustl.edu	37	8	145947669	145947669	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr8:145947669T>C	ENST00000292562.7	-	5	1651	c.1376A>G	c.(1375-1377)aAg>aGg	p.K459R	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTGGTAGGGCTTCTCCCCAGT	0.507																																																0			8											60.0	68.0	66.0					8																	145947669		2197	4300	6497	145918478	SO:0001583	missense	90987			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1376A>G	8.37:g.145947669T>C	ENSP00000292562:p.Lys459Arg		145918478	Q2M219	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.K459R	ENST00000292562.7	37	c.1376	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500668	0.44455	.	.	ENSG00000198169	ENST00000292562	T	0.24908	1.83	2.15	2.15	0.27550	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27900	0.0687	L	0.42529	1.33	0.28431	N	0.917256	B	0.32467	0.372	B	0.41691	0.364	T	0.30357	-0.9981	9	0.66056	D	0.02	-11.9304	9.5374	0.39231	0.0:0.0:0.0:1.0	.	459	Q9BRH9	ZN251_HUMAN	R	459	ENSP00000292562:K459R	ENSP00000292562:K459R	K	-	2	0	ZNF251	145918478	0.223000	0.23663	0.942000	0.38095	0.635000	0.38103	0.473000	0.22132	1.247000	0.43917	0.460000	0.39030	AAG	-	superfamily_C2H2 and C2HC zinc fingers		0.507	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	protein_coding	OTTHUMT00000382541.1	T	NM_138367		145918478	-1	no_errors	NM_138367	genbank	human	validated	54_36p	missense	SNP	0.996	C
CNTNAP2	26047	genome.wustl.edu	37	7	146829391	146829391	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:146829391G>A	ENST00000361727.3	+	8	1654	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	380					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTTTTCAACGCTACAAGTTA	0.463										HNSCC(39;0.1)																																						0			7											126.0	121.0	122.0					7																	146829391		2203	4300	6503	146460324	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1138G>A	7.37:g.146829391G>A	ENSP00000354778:p.Ala380Thr		146460324	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like,PatternScan_GLYCO_HORMONE_BETA_1,HMMSmart_SM00294	p.A380T	ENST00000361727.3	37	c.1138	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894940	0.72639	.	.	ENSG00000174469	ENST00000361727	T	0.79247	-1.25	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.088434	0.42420	D	0.000703	T	0.66208	0.2766	N	0.24115	0.695	0.80722	D	1	B	0.25809	0.135	B	0.23574	0.047	T	0.61564	-0.7037	10	0.13470	T	0.59	.	18.3986	0.90507	0.0:0.0:1.0:0.0	.	380	Q9UHC6	CNTP2_HUMAN	T	380	ENSP00000354778:A380T	ENSP00000354778:A380T	A	+	1	0	CNTNAP2	146460324	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.191000	0.65110	2.686000	0.91538	0.591000	0.81541	GCT	-	superfamily_Concanavalin A-like lectins/glucanases		0.463	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	protein_coding	OTTHUMT00000327668.1	G			146460324	+1	no_errors	NM_014141	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NBPF15	284565	genome.wustl.edu	37	1	148582430	148582430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:148582430C>T	ENST00000369187.3	+	9	1153	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	NBPF15_ENST00000442702.2_Nonsense_Mutation_p.Q222*|NBPF15_ENST00000464336.2_3'UTR	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	222	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TGACTCCAACCAGCCACATAA	0.463																																																0			1											1.0	1.0	1.0					1																	148582430		69	212	281	146849054	SO:0001587	stop_gained	284565			BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.664C>T	1.37:g.148582430C>T	ENSP00000358188:p.Gln222*		146849054	Q3BBV9|Q8IX77	Nonsense_Mutation	SNP	HMMPfam_DUF1220	p.Q222*	ENST00000369187.3	37	c.664	CCDS932.1	1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.847928	0.91277	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	.	.	.	0.566	0.566	0.17317	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	.	.	.	.	.	.	.	X	222	.	ENSP00000358188:Q222X	Q	+	1	0	NBPF15	146849054	0.002000	0.14202	0.022000	0.16811	0.012000	0.07955	0.218000	0.17622	0.571000	0.29365	0.184000	0.17185	CAG	-	HMMPfam_DUF1220		0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF15	protein_coding	OTTHUMT00000038609.3	C	NM_173638		146849054	+1	no_errors	NM_173638	genbank	human	predicted	54_36p	nonsense	SNP	0.016	T
MBNL1	4154	genome.wustl.edu	37	3	152150554	152150554	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr3:152150554G>T	ENST00000463374.1	+	3	905	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	MBNL1_ENST00000492948.1_Missense_Mutation_p.A132S|MBNL1_ENST00000498502.1_Missense_Mutation_p.A132S|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132S|MBNL1_ENST00000324210.5_Missense_Mutation_p.A132S|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000485509.1_Missense_Mutation_p.A132S|MBNL1_ENST00000357472.3_Missense_Mutation_p.A132S|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282486.6_Missense_Mutation_p.A132S|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75S|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132S	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	132					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCAGCAGCCGCCTTTAATCC	0.473																																																0			3											142.0	156.0	152.0					3																	152150554		2203	4300	6503	153633244	SO:0001583	missense	4154			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.394G>T	3.37:g.152150554G>T	ENSP00000418108:p.Ala132Ser		153633244	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger	p.A132S	ENST00000463374.1	37	c.394	CCDS3165.1	3	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235452	0.39498	.	.	ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	N	0.24115	0.695	0.45129	D	0.998144	D;B;B;D;B;P;D	0.64830	0.994;0.288;0.078;0.988;0.004;0.757;0.977	P;B;B;P;B;B;P	0.62089	0.898;0.074;0.054;0.826;0.024;0.394;0.729	T	0.49021	-0.8982	10	0.15952	T	0.53	.	18.3327	0.90276	0.0:0.0:1.0:0.0	.	132;132;132;132;75;132;132	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.;.	S	132;132;40;75;132;40;132;132;132;132;132;132;35	ENSP00000282486:A132S;ENSP00000347637:A132S;ENSP00000417741:A40S;ENSP00000419347:A75S;ENSP00000319429:A132S;ENSP00000420680:A40S;ENSP00000420327:A132S;ENSP00000319374:A132S;ENSP00000350064:A132S;ENSP00000418108:A132S;ENSP00000420103:A132S;ENSP00000418876:A132S;ENSP00000418508:A35S	ENSP00000282486:A132S	A	+	1	0	MBNL1	153633244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.876000	0.75556	2.396000	0.81511	0.563000	0.77884	GCC	-	NULL		0.473	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	protein_coding	OTTHUMT00000353604.1	G	NM_021038		153633244	+1	no_errors	NM_207293	genbank	human	validated	54_36p	missense	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160310175	160310175	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:160310175G>C	ENST00000392783.2	-	4	778	c.283C>G	c.(283-285)Ctt>Gtt	p.L95V	BAZ2B_ENST00000343439.5_Missense_Mutation_p.L95V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L95V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L95V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	95				L -> G (in Ref. 6; AAH12576). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGTGTACCAAGTGTCCCCAAA	0.507																																																0			2											107.0	106.0	106.0					2																	160310175		1953	4155	6108	160018421	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.283C>G	2.37:g.160310175G>C	ENSP00000376534:p.Leu95Val		160018421	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	superfamily_DNA-binding domain,HMMPfam_MBD,HMMSmart_SM00391,HMMPfam_DDT,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.L95V	ENST00000392783.2	37	c.283	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957242	0.53400	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000437839	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.29	5.29	0.74685	.	.	.	.	.	T	0.62986	0.2473	L	0.59436	1.845	0.29818	N	0.831061	D;D;D;D	0.67145	0.99;0.996;0.996;0.993	D;D;D;D	0.80764	0.979;0.994;0.994;0.987	T	0.61992	-0.6948	9	0.72032	D	0.01	-6.3533	17.6945	0.88277	0.0:0.0:1.0:0.0	.	95;95;95;95	Q6MZK7;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;BAZ2B_HUMAN	V	95	ENSP00000376533:L95V;ENSP00000376534:L95V;ENSP00000348087:L95V;ENSP00000339670:L95V;ENSP00000415613:L95V	ENSP00000339670:L95V	L	-	1	0	BAZ2B	160018421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.633000	0.67825	2.474000	0.83562	0.655000	0.94253	CTT	-	NULL		0.507	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	protein_coding	OTTHUMT00000255037.2	G			160018421	-1	no_errors	NM_013450	genbank	human	validated	54_36p	missense	SNP	1.000	C
FAM196B	100131897	genome.wustl.edu	37	5	169310407	169310407	+	Missense_Mutation	SNP	C	C	G	rs149156890	byFrequency	TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr5:169310407C>G	ENST00000377365.3	-	2	1877	c.496G>C	c.(496-498)Gtg>Ctg	p.V166L	DOCK2_ENST00000256935.8_Intron|DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000523351.1_Intron|DOCK2_ENST00000520908.1_Intron|FAM196B_ENST00000523970.1_5'Flank	NM_001129891.1	NP_001123363.1	A6NMK8	F196B_HUMAN	family with sequence similarity 196, member B	166										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)	5						GCATGGGACACCTTGACCCTT	0.522													C|||	17	0.00339457	0.0	0.0115	5008	,	,		22191	0.0		0.007	False		,,,				2504	0.002															0			5						C	LEU/VAL,	3,1381		0,3,689	79.0	68.0	72.0		496,	0.4	0.0	5	dbSNP_134	72	10,3172		0,10,1581	yes	missense,intron	DOCK2,FAM196B	NM_001129891.1,NM_004946.2	32,	0,13,2270	GG,GC,CC		0.3143,0.2168,0.2847	benign,	166/536,	169310407	13,4553	692	1591	2283	169242985	SO:0001583	missense	0				CCDS47336.1	5q35.1	2010-02-17	2009-09-11	2009-09-11	ENSG00000204767	ENSG00000204767			37271	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 57"""	C5orf57			Standard	NM_001129891		Approved		uc003mag.2	A6NMK8	OTTHUMG00000163083	ENST00000377365.3:c.496G>C	5.37:g.169310407C>G	ENSP00000366582:p.Val166Leu		169242985		Missense_Mutation	SNP	NULL	p.V166L	ENST00000377365.3	37	c.496	CCDS47336.1	5	7	0.003205128205128205	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	6.691	0.496199	0.12762	0.002168	0.003143	ENSG00000204767	ENST00000377365	T	0.43294	0.95	5.25	0.416	0.16416	.	1.190540	0.05847	N	0.620445	T	0.27629	0.0679	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21690	-1.0238	10	0.32370	T	0.25	0.1449	4.342	0.11115	0.168:0.3963:0.0:0.4357	.	166	A6NMK8	F196B_HUMAN	L	166	ENSP00000366582:V166L	ENSP00000366582:V166L	V	-	1	0	FAM196B	169242985	0.000000	0.05858	0.029000	0.17559	0.890000	0.51754	0.279000	0.18771	0.137000	0.18759	0.655000	0.94253	GTG	-	NULL		0.522	FAM196B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	uc003mag.2	protein_coding	OTTHUMT00000371629.1	C	NM_001129891		169242985	-1	no_errors	ENST00000377365	ensembl	human	known	54_36p	missense	SNP	0.000	G
TTN	7273	genome.wustl.edu	37	2	179486304	179486304	+	Missense_Mutation	SNP	G	G	A	rs199834143		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:179486304G>A	ENST00000591111.1	-	195	40548	c.40324C>T	c.(40324-40326)Cgg>Tgg	p.R13442W	TTN_ENST00000342992.6_Missense_Mutation_p.R12515W|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6143W|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6018W|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6210W|TTN_ENST00000589042.1_Missense_Mutation_p.R15083W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13442	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCTCTTCCGTCCTTCAGTC	0.463																																																0			2											138.0	136.0	137.0					2																	179486304		2000	4177	6177	179194549	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40324C>T	2.37:g.179486304G>A	ENSP00000465570:p.Arg13442Trp		179194549	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.R11065W	ENST00000591111.1	37	c.33193		2	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630954	0.28978	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.17	4.23	0.50019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82421	0.5033	M	0.79926	2.475	0.28107	N	0.931148	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.77715	-0.2484	9	0.87932	D	0	.	15.2814	0.73787	0.0:0.0:0.3363:0.6637	.	6018;6143;6210;13442	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	12515;6018;6210;6143;6018	ENSP00000343764:R12515W;ENSP00000434586:R6018W;ENSP00000340554:R6210W;ENSP00000352154:R6143W	ENSP00000340554:R6210W	R	-	1	2	TTN	179194549	0.970000	0.33590	0.986000	0.45419	0.978000	0.69477	2.040000	0.41203	0.762000	0.33152	0.655000	0.94253	CGG	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179194549	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	0.886	A
LHX9	56956	genome.wustl.edu	37	1	197889289	197889289	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:197889289A>G	ENST00000367387.4	+	2	787	c.362A>G	c.(361-363)aAg>aGg	p.K121R	LHX9_ENST00000367391.1_Missense_Mutation_p.K112R|LHX9_ENST00000337020.2_Missense_Mutation_p.K121R|LHX9_ENST00000367390.3_Missense_Mutation_p.K112R|LHX9_ENST00000561173.1_Missense_Mutation_p.K127R	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	121	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ATTTACTGCAAGGAGGATTAC	0.577																																																0			1											163.0	153.0	156.0					1																	197889289		2203	4300	6503	196155912	SO:0001583	missense	56956			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.362A>G	1.37:g.197889289A>G	ENSP00000356357:p.Lys121Arg		196155912	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.K121R	ENST00000367387.4	37	c.362	CCDS1393.1	1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.479835	0.63849	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.61	5.61	0.85477	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88548	0.6466	L	0.35644	1.08	0.80722	D	1	P;P;P	0.44429	0.685;0.808;0.835	P;B;P	0.50049	0.629;0.283;0.495	D	0.88822	0.3299	10	0.49607	T	0.09	.	15.283	0.73801	1.0:0.0:0.0:0.0	.	121;112;112	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	R	112;112;121;121	ENSP00000356361:K112R;ENSP00000356360:K112R;ENSP00000337969:K121R;ENSP00000356357:K121R	ENSP00000337969:K121R	K	+	2	0	LHX9	196155912	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.902000	0.92568	2.254000	0.74563	0.533000	0.62120	AAG	-	HMMSmart_SM00132,HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain)		0.577	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX9	protein_coding	OTTHUMT00000086547.2	A	NM_020204		196155912	+1	no_errors	NM_020204	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PGAP1	80055	genome.wustl.edu	37	2	197755566	197755566	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:197755566G>T	ENST00000354764.4	-	10	1273	c.1159C>A	c.(1159-1161)Cag>Aag	p.Q387K	PGAP1_ENST00000485830.1_5'Flank|PGAP1_ENST00000409188.1_3'UTR|PGAP1_ENST00000409475.1_Missense_Mutation_p.Q387K	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	387					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATAGTGCTCTGACAATAGACA	0.308																																																0			2											68.0	73.0	71.0					2																	197755566		2200	4290	6490	197463811	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1159C>A	2.37:g.197755566G>T	ENSP00000346809:p.Gln387Lys		197463811	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases	p.Q387K	ENST00000354764.4	37	c.1159	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	G	7.178	0.588932	0.13812	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.51	4.51	0.55191	.	0.194957	0.46442	D	0.000282	T	0.28665	0.0710	N	0.14661	0.345	0.80722	D	1	B;B	0.28933	0.228;0.131	B;B	0.24394	0.053;0.039	T	0.13575	-1.0504	9	0.06365	T	0.9	-7.7498	10.8814	0.46939	0.0:0.1908:0.8092:0.0	.	387;387	Q75T13-3;Q75T13	.;PGAP1_HUMAN	K	167;387;387;167	.	ENSP00000346809:Q387K	Q	-	1	0	PGAP1	197463811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.110000	0.57831	2.473000	0.83533	0.650000	0.86243	CAG	-	NULL		0.308	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	protein_coding	OTTHUMT00000256103.5	G	NM_024989		197463811	-1	no_errors	NM_024989	genbank	human	validated	54_36p	missense	SNP	1.000	T
RPS6KC1	26750	genome.wustl.edu	37	1	213415047	213415047	+	Missense_Mutation	SNP	C	C	T	rs566102618		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:213415047C>T	ENST00000366960.3	+	11	2378	c.2228C>T	c.(2227-2229)gCa>gTa	p.A743V	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A446V|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A531V|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A731V	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	743					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAATGCCAAGCACATGAGGAG	0.418																																																0			1											69.0	65.0	67.0					1																	213415047		2203	4300	6503	211481670	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2228C>T	1.37:g.213415047C>T	ENSP00000355927:p.Ala743Val		211481670	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00745,HMMPfam_MIT,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase	p.A743V	ENST00000366960.3	37	c.2228	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	C	1.841	-0.467369	0.04476	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.43688	1.36;1.4;1.4;0.94	5.62	1.22	0.21188	.	0.799854	0.11936	N	0.515256	T	0.32496	0.0831	L	0.47716	1.5	0.09310	N	1	B;B;B	0.15141	0.007;0.012;0.012	B;B;B	0.17979	0.02;0.005;0.005	T	0.27606	-1.0069	10	0.45353	T	0.12	-33.4701	5.1704	0.15107	0.1003:0.4539:0.3119:0.1339	.	531;743;731	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	V	531;743;731;446	ENSP00000442306:A531V;ENSP00000355927:A743V;ENSP00000355926:A731V;ENSP00000439282:A446V	ENSP00000355926:A731V	A	+	2	0	RPS6KC1	211481670	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.025000	0.12413	0.308000	0.22923	0.650000	0.86243	GCA	-	NULL		0.418	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	protein_coding	OTTHUMT00000089690.3	C	NM_012424		211481670	+1	no_errors	NM_012424	genbank	human	validated	54_36p	missense	SNP	0.000	T
PECR	55825	genome.wustl.edu	37	2	216931241	216931241	+	Splice_Site	SNP	C	C	T			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:216931241C>T	ENST00000265322.7	-	2	199	c.125G>A	c.(124-126)gGg>gAg	p.G42E	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	42					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CACATTACTCCCTGAGGAGAA	0.458																																																0			2											122.0	107.0	112.0					2																	216931241		2203	4300	6503	216639486	SO:0001630	splice_region_variant	55825			AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.125-1G>A	2.37:g.216931241C>T			216639486	B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short	p.G42E	ENST00000265322.7	37	c.125	CCDS33375.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.115153	0.94339	.	.	ENSG00000115425	ENST00000265322	T	0.65916	-0.18	4.79	2.95	0.34219	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	H	0.97440	4.005	0.80722	D	1	D;D	0.61697	0.99;0.975	P;P	0.59703	0.862;0.859	D	0.85522	0.1204	10	0.72032	D	0.01	.	9.5939	0.39563	0.0:0.8204:0.0:0.1796	.	42;42	B4DJS2;Q9BY49	.;PECR_HUMAN	E	42	ENSP00000265322:G42E	ENSP00000265322:G42E	G	-	2	0	PECR	216639486	0.990000	0.36364	0.663000	0.29738	0.853000	0.48598	2.942000	0.49018	1.230000	0.43646	0.591000	0.81541	GGG	-	superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short		0.458	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PECR	protein_coding	OTTHUMT00000337277.1	C	NM_018441	Missense_Mutation	216639486	-1	no_errors	NM_018441	genbank	human	validated	54_36p	missense	SNP	0.990	T
OBSCN	84033	genome.wustl.edu	37	1	228479627	228479627	+	Silent	SNP	G	G	A			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:228479627G>A	ENST00000422127.1	+	39	10412	c.10368G>A	c.(10366-10368)ctG>ctA	p.L3456L	OBSCN_ENST00000366707.4_Silent_p.L575L|OBSCN_ENST00000359599.6_Silent_p.L2303L|OBSCN_ENST00000366709.4_Silent_p.L575L|OBSCN_ENST00000570156.2_Silent_p.L3885L|OBSCN_ENST00000284548.11_Silent_p.L3456L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3456	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGAGGGTCTGAGGAATGAAG	0.587																																																0			1											40.0	39.0	40.0					1																	228479627		1930	4140	6070	226546250	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10368G>A	1.37:g.228479627G>A			226546250	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_V-set,HMMSmart_SM00015,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,PatternScan_PROTEIN_KINASE_TYR	p.L3456	ENST00000422127.1	37	c.10368	CCDS58065.1	1																																																																																			-	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843		226546250	+1	no_errors	NM_001098623	genbank	human	reviewed	54_36p	silent	SNP	0.966	A
LRRN4	164312	genome.wustl.edu	37	20	6021808	6021809	+	In_Frame_Ins	INS	-	-	CAA	rs370743397		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr20:6021808_6021809insCAA	ENST00000378858.4	-	5	2306_2307	c.2082_2083insTTG	c.(2080-2085)ttgctc>ttgTTGctc	p.694_695LL>LLL		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	694					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTGCTGGCGAGCAACAGGCCGC	0.703																																																0			20																																								5969809	SO:0001652	inframe_insertion	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.2080_2082dupTTG	20.37:g.6021809_6021811dupCAA	ENSP00000368135:p.Leu694_Leu694dup		5969808	A8K258|Q5JWV6|Q9H419	In_Frame_Ins	INS	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III	p.695in_frame_insL	ENST00000378858.4	37	c.2083_2082	CCDS13097.1	20																																																																																			-	NULL		0.703	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	protein_coding	OTTHUMT00000077907.2	-	NM_152611		5969809	-1	no_errors	NM_152611	genbank	human	validated	54_36p	in_frame_ins	INS	0.610:0.609	CAA
DOPEY2	9980	genome.wustl.edu	37	21	37603142	37603142	+	Frame_Shift_Del	DEL	T	T	-			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr21:37603142delT	ENST00000399151.3	+	14	2145	c.2060delT	c.(2059-2061)atcfs	p.I687fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	687					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCAAGCCCATCACTGTGCCT	0.557																																																0			21											82.0	73.0	76.0					21																	37603142		2203	4300	6503	36525012	SO:0001589	frameshift_variant	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2060delT	21.37:g.37603142delT	ENSP00000382104:p.Ile687fs		36525012	D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Del	DEL	HMMPfam_Dopey_N	p.I687fs	ENST00000399151.3	37	c.2060	CCDS13643.1	21																																																																																			(deletion:cds_exon[36524618,36525302])	NULL		0.557	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	protein_coding	OTTHUMT00000194636.1	T	NM_005128		36525012	+1	no_errors	NM_005128	genbank	human	validated	54_36p	frame_shift_del	DEL	0.993	-
NIPBL	25836	genome.wustl.edu	37	5	36986353	36986353	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr5:36986353delC	ENST00000282516.8	+	10	3570	c.3071delC	c.(3070-3072)tcafs	p.S1024fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.S1024fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1024					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAGGACAAATCAAGAAGTTCC	0.303																																																0			5	GRCh37	CM042801	NIPBL	M							81.0	92.0	88.0					5																	36986353		2203	4298	6501	37022110	SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3071delC	5.37:g.36986353delC	ENSP00000282516:p.Ser1024fs		37022110	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	superfamily_ARM repeat	p.S1024fs	ENST00000282516.8	37	c.3071	CCDS3920.1	5																																																																																			(deletion:cds_exon[37020535,37022160])	superfamily_ARM repeat		0.303	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	protein_coding	OTTHUMT00000207582.1	C	NM_015384		37022110	+1	no_errors	NM_133433	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
IRF5	3663	genome.wustl.edu	37	7	128587352	128587381	+	In_Frame_Del	DEL	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	-	rs199508964|rs113806178|rs60344245|rs566635242|rs202130620|rs375983447|rs534043449|rs79724471	byFrequency	TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr7:128587352_128587381delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ENST00000402030.2	+	6	574_603	c.502_531delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	c.(502-531)actctgcagccgcccactctgcggccgcctdel	p.TLQPPTLRPP168del	IRF5_ENST00000473745.1_In_Frame_Del_p.TLQPPTLRPP168del|IRF5_ENST00000357234.5_In_Frame_Del_p.TLQPPTLRPP184del|IRF5_ENST00000249375.4_In_Frame_Del_p.TLQPPTLRPP168del|IRF5_ENST00000477535.1_Intron	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	168					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						GTGGCCGCCCACTCTGCAGCCGCCCACTCTGCGGCCGCCTACTCTGCAGC	0.652														2428	0.484824	0.534	0.366	5008	,	,		17245	0.4425		0.5338	False		,,,				2504	0.4959															1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	7							,,,,	1942,1932		603,736,598					,,,,	0.1	0.9		dbSNP_129	14	3856,4082		1083,1690,1196	no	coding,intron,coding,coding,coding	IRF5	NM_032643.3,NM_001242452.1,NM_001098630.1,NM_001098629.1,NM_001098627.2	,,,,	1686,2426,1794	A1A1,A1R,RR		48.5765,49.8709,49.0857	,,,,	,,,,		5798,6014				128374617	SO:0001651	inframe_deletion	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.502_531delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	7.37:g.128587352_128587381delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ENSP00000385352:p.Thr168_Pro177del		128374588	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Splice_Site	DEL	-	e6-1	ENST00000402030.2	37	c.541+9_541+1	CCDS5808.1	7																																																																																			(deletion:intron[128374580,128374609], cds_exon[128374610,128374825])	-		0.652	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	protein_coding	OTTHUMT00000350934.1	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	NM_001098627		128374617	+1	no_errors	NM_002200	genbank	human	reviewed	54_36p	splice_site_del	DEL	0.714:0.698:0.682:0.666:0.650:0.635:0.620:0.605:0.590:0.575:0.561:0.546:0.532:0.517:0.503:0.489:0.475:0.461:0.447:0.433:0.419:0.405:0.391:0.377:0.363:0.349:0.335:0.321:0.306:0.292	-
FAR2P2	100216479	genome.wustl.edu	37	2	131185612	131185613	+	RNA	INS	-	-	TTG	rs370952959|rs142647837|rs546275518	byFrequency	TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:131185612_131185613insTTG	ENST00000424873.1	-	0	0					NR_046260.1																						ttttgttgtttttgttgttgtt	0.55														852	0.170128	0.1127	0.2176	5008	,	,		14681	0.0734		0.2843	False		,,,				2504	0.1963															0			2																																								130902083			732043																															2.37:g.131185619_131185621dupTTG			130902082		RNA	INS	-	NULL	ENST00000424873.1	37	NULL		2																																																																																			-	-		0.550	AC140481.1-001	KNOWN	basic	processed_transcript	LOC732043	pseudogene	OTTHUMT00000333044.1	-			130902083	+1	pseudogene	XR_037773	genbank	human	model	54_36p	rna	INS	0.000:0.000	TTG
PDLIM4	8572	genome.wustl.edu	37	5	131606686	131606686	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr5:131606686delC	ENST00000253754.3	+	4	470	c.406delC	c.(406-408)ccafs	p.P136fs	PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Frame_Shift_Del_p.P136fs|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	136							zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTGGGATCTCCATATGGACA	0.632																																																0			5											149.0	151.0	150.0					5																	131606686		2203	4300	6503	131634585	SO:0001589	frameshift_variant	8572			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.406delC	5.37:g.131606686delC	ENSP00000253754:p.Pro136fs		131634585	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Frame_Shift_Del	DEL	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM	p.P136fs	ENST00000253754.3	37	c.406	CCDS4152.1	5																																																																																			(deletion:cds_exon[131634507,131634685])	NULL		0.632	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM4	protein_coding	OTTHUMT00000132644.2	C	NM_003687		131634585	+1	no_errors	NM_003687	genbank	human	validated	54_36p	frame_shift_del	DEL	0.033	-
RNU1-59P	106480167	genome.wustl.edu	37	1	144534187	144534188	+	RNA	DEL	CG	CG	-	rs145815129|rs10578984		TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	CG	CG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr1:144534187_144534188delCG	ENST00000364829.1	+	0	150_151									RNA, U1 small nuclear 59, pseudogene																		gaattgcgttcgcgctttcttc	0.441																																																0			1																																								143245545			0					1q21.1	2013-05-15			ENSG00000201699	ENSG00000201699			48401	pseudogene	RNA, pseudogene							Standard			Approved						1.37:g.144534189_144534190delCG			143245544		RNA	DEL	-	NULL	ENST00000364829.1	37	NULL		1																																																																																			(deletion:rna[143245395,143245556])	-		0.441	RNU1-59P-201	KNOWN	basic	snRNA	ENSG00000201699	snRNA		CG			143245545	+1	no_errors	ENST00000364829	ensembl	human	known	54_36p	rna	DEL	1.000:1.000	-
CHN1	1123	genome.wustl.edu	37	2	175742580	175742580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1856-01A-01W-0639-09	TCGA-30-1856-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8e2d1757-2105-4177-9215-e3cac155e7c9	8f168457-3a7e-4b59-9079-662580a8b8ae	g.chr2:175742580delC	ENST00000409900.3	-	6	850	c.537delG	c.(535-537)gtgfs	p.V179fs	CHN1_ENST00000409156.3_Frame_Shift_Del_p.V179fs|CHN1_ENST00000488080.1_Intron	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	179					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TTTTCTCTGACACCCCATCCT	0.398			T	TAF15	extraskeletal myxoid chondrosarcoma																																		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0			2											93.0	85.0	88.0					2																	175742580		1866	4095	5961	175450826	SO:0001589	frameshift_variant	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.537delG	2.37:g.175742580delC	ENSP00000386741:p.Val179fs		175450826	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Frame_Shift_Del	DEL	superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP	p.S180fs	ENST00000409900.3	37	c.537	CCDS46455.1	2																																																																																			(deletion:cds_exon[175450814,175451102])	superfamily_Cysteine-rich domain		0.398	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	protein_coding	OTTHUMT00000334453.1	C	NM_001822		175450826	-1	no_errors	NM_001025201	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.551	-
