#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	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_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ACSS3	79611	genome.wustl.edu	37	12	81627164	81627164	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:81627164G>A	ENST00000548058.1	+	13	2543	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	ACSS3_ENST00000548324.1_Missense_Mutation_p.E227K|ACSS3_ENST00000261206.3_Missense_Mutation_p.E544K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	545						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTACATGGATGAAGAAGGCTA	0.338																																																	0													265.0	259.0	261.0					12																	81627164		2203	4300	6503	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1633G>A	12.37:g.81627164G>A	ENSP00000449535:p.Glu545Lys		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E545K	ENST00000548058.1	37	c.1633	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056713	0.76074	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.54071	2.66;2.66;0.59	5.84	4.95	0.65309	AMP-dependent synthetase/ligase (1);	0.049450	0.85682	D	0.000000	T	0.45054	0.1323	L	0.39633	1.23	0.80722	D	1	B;B	0.14438	0.01;0.008	B;B	0.15870	0.014;0.009	T	0.35798	-0.9774	10	0.49607	T	0.09	-15.3476	14.0669	0.64837	0.0726:0.0:0.9274:0.0	.	227;545	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	K	545;544;227	ENSP00000449535:E545K;ENSP00000261206:E544K;ENSP00000448965:E227K	ENSP00000261206:E544K	E	+	1	0	ACSS3	80151295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.465000	0.80898	2.777000	0.95525	0.650000	0.86243	GAA	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.338	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0.00	40	0	G	NM_024560		81627164	+1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	missense	15.53	87	16	SNP	1.000	A
ADCY7	113	genome.wustl.edu	37	16	50334726	50334726	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr16:50334726G>A	ENST00000394697.2	+	9	1517	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	ADCY7_ENST00000537579.1_Missense_Mutation_p.D393N|ADCY7_ENST00000566433.2_Missense_Mutation_p.D393N|ADCY7_ENST00000538642.1_Missense_Mutation_p.D393N|ADCY7_ENST00000254235.3_Missense_Mutation_p.D393N			P51828	ADCY7_HUMAN	adenylate cyclase 7	393	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GTGGCAGTATGACGTGTGGTC	0.677																																																	0													130.0	102.0	111.0					16																	50334726		2165	4249	6414	SO:0001583	missense	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1177G>A	16.37:g.50334726G>A	ENSP00000378187:p.Asp393Asn		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D393N	ENST00000394697.2	37	c.1177	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.248290	0.95305	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.83	4.83	0.62350	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.46145	U	0.000312	D	0.95881	0.8659	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98154	1.0443	10	0.87932	D	0	.	17.906	0.88918	0.0:0.0:1.0:0.0	.	393;393	P51828;F5H4D1	ADCY7_HUMAN;.	N	393	ENSP00000445046:D393N;ENSP00000378187:D393N;ENSP00000437788:D393N;ENSP00000254235:D393N	ENSP00000254235:D393N	D	+	1	0	ADCY7	48892227	1.000000	0.71417	0.997000	0.53966	0.825000	0.46686	9.860000	0.99555	2.209000	0.71365	0.313000	0.20887	GAC	ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000121281		0.677	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	-	0.00	23	0	G			50334726	+1	tier1	-	no_errors	ENST00000254235	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	A
AGBL3	340351	genome.wustl.edu	37	7	134719125	134719125	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr7:134719125C>G	ENST00000436302.2	+	7	1036	c.783C>G	c.(781-783)gaC>gaG	p.D261E	AGBL3_ENST00000435976.2_Missense_Mutation_p.D261E|AGBL3_ENST00000458078.1_Missense_Mutation_p.D235E	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	261						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						GAATAGGAGACCAAATCAAGT	0.448																																																	0													92.0	71.0	77.0					7																	134719125		692	1590	2282	SO:0001583	missense	0			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.783C>G	7.37:g.134719125C>G	ENSP00000388275:p.Asp261Glu		B7Z827|Q9H965	Missense_Mutation	SNP	pfam_Peptidase_M14	p.D235E	ENST00000436302.2	37	c.705	CCDS47718.1	7	.	.	.	.	.	.	.	.	.	.	C	9.817	1.184778	0.21870	.	.	ENSG00000146856	ENST00000436302;ENST00000458078;ENST00000435976	T;T;T	0.27890	1.64;1.64;1.64	5.28	1.3	0.21679	.	0.494596	0.24165	N	0.040959	T	0.11793	0.0287	N	0.11818	0.18	0.30327	N	0.787005	B	0.14012	0.009	B	0.20955	0.032	T	0.35674	-0.9779	10	0.02654	T	1	-15.3113	5.2478	0.15506	0.0:0.4182:0.2542:0.3276	.	261	Q8NEM8-4	.	E	261;235;261	ENSP00000388275:D261E;ENSP00000395969:D235E;ENSP00000401220:D261E	ENSP00000275763:D261E	D	+	3	2	AGBL3	134369665	0.546000	0.26457	1.000000	0.80357	0.861000	0.49209	-0.142000	0.10311	0.198000	0.20407	-0.310000	0.09108	GAC	AGBL3	-	NULL	ENSG00000146856		0.448	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	-	0.00	14	0	C	NM_178563		134719125	+1	tier1	-	no_errors	ENST00000458078	ensembl	human	known	74_37	missense	25.93	20	7	SNP	0.996	G
AMY1B	277	genome.wustl.edu	37	1	104234015	104234015	+	Splice_Site	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:104234015C>T	ENST00000330330.5	-	8	1296	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	AMY1B_ENST00000464691.1_5'Flank|AMY1B_ENST00000370080.3_Splice_Site_p.R334R	NM_001008218.1	NP_001008219.1	P04745	AMY1_HUMAN	amylase, alpha 1B (salivary)	334					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TTTTGTACAGCCTGAAAGTTA	0.323																																																	0													3.0	4.0	4.0					1																	104234015		200	858	1058	SO:0001630	splice_region_variant	0				CCDS30783.1	1p21	2012-10-02	2007-05-03		ENSG00000174876	ENSG00000174876	3.2.1.1		475	protein-coding gene	gene with protein product		104701	"""amylase, alpha 1B; salivary"""	AMY1			Standard	XM_005270758		Approved			P04745	OTTHUMG00000011021	ENST00000330330.5:c.1002-1G>A	1.37:g.104234015C>T			A6NJS5|A8K8H6|Q13763|Q5T083	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R334	ENST00000330330.5	37	c.1002	CCDS30783.1	1																																																																																			AMY1B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000174876		0.323	AMY1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1B	HGNC	protein_coding	OTTHUMT00000030309.1	-	0.00	77	0	C	NM_001008218	Silent	104234015	-1	tier1	-	no_errors	ENST00000330330	ensembl	human	known	74_37	silent	10.88	131	16	SNP	1.000	T
ANXA7	310	genome.wustl.edu	37	10	75135833	75135834	+	3'UTR	INS	-	-	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr10:75135833_75135834insA	ENST00000372921.5	-	0	1476_1477					NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7						autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					tttttttcattaaaaaaaaaaa	0.411																																																	0																																										SO:0001624	3_prime_UTR_variant	0			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.*20->T	10.37:g.75135844_75135844dupA			Q5F2H3|Q5T0M6|Q5T0M7	RNA	INS	-	NULL	ENST00000372921.5	37	NULL	CCDS7325.1	10																																																																																			ANXA7	-	-	ENSG00000138279		0.411	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA7	HGNC	protein_coding	OTTHUMT00000048646.2		0.00	22	0	-	NM_001156		75135834	-1	tier1		no_errors	ENST00000463788	ensembl	human	known	74_37	rna	15.00	34	6	INS	0.032:0.003	A
APOB	338	genome.wustl.edu	37	2	21231903	21231903	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:21231903G>T	ENST00000233242.1	-	26	7964	c.7837C>A	c.(7837-7839)Cag>Aag	p.Q2613K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2613					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGTGTCTGGAAGGTAGCT	0.413																																																	0													82.0	83.0	83.0					2																	21231903		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7837C>A	2.37:g.21231903G>T	ENSP00000233242:p.Gln2613Lys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q2613K	ENST00000233242.1	37	c.7837	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	9.419	1.082632	0.20309	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00695	5.83	5.16	5.16	0.70880	.	0.253390	0.28317	N	0.015786	T	0.01061	0.0035	L	0.50333	1.59	0.80722	D	1	B	0.26195	0.144	B	0.15870	0.014	T	0.66822	-0.5826	10	0.25106	T	0.35	.	13.6158	0.62108	0.0:0.0:0.8451:0.1549	.	2613	P04114	APOB_HUMAN	K	2613	ENSP00000233242:Q2613K	ENSP00000233242:Q2613K	Q	-	1	0	APOB	21085408	1.000000	0.71417	0.981000	0.43875	0.930000	0.56654	3.314000	0.51943	2.404000	0.81709	0.561000	0.74099	CAG	APOB	-	NULL	ENSG00000084674		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0.00	32	0	G			21231903	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.987	T
ARID1B	57492	genome.wustl.edu	37	6	157527315	157527315	+	Silent	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:157527315C>T	ENST00000350026.5	+	19	5002	c.5001C>T	c.(4999-5001)ctC>ctT	p.L1667L	ARID1B_ENST00000346085.5_Silent_p.L1680L|ARID1B_ENST00000275248.4_Silent_p.L1662L|ARID1B_ENST00000367148.1_Silent_p.L1720L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1667					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGATTTCTCGAACTTTTAG	0.418																																																	0													193.0	227.0	216.0					6																	157527315		2203	4296	6499	SO:0001819	synonymous_variant	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5001C>T	6.37:g.157527315C>T			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L1720	ENST00000350026.5	37	c.5160	CCDS5251.2	6																																																																																			ARID1B	-	NULL	ENSG00000049618		0.418	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0.00	23	0	C	NM_020732		157527315	+1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	silent	18.92	30	7	SNP	0.020	T
ARPP21	10777	genome.wustl.edu	37	3	35763159	35763159	+	Missense_Mutation	SNP	T	T	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:35763159T>G	ENST00000187397.4	+	14	1514	c.1058T>G	c.(1057-1059)cTc>cGc	p.L353R	ARPP21_ENST00000337271.5_Missense_Mutation_p.L299R|ARPP21_ENST00000444190.1_Missense_Mutation_p.L299R|ARPP21_ENST00000417925.1_Missense_Mutation_p.L319R|ARPP21_ENST00000458225.1_Missense_Mutation_p.L319R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	353	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAAAATGAACTCAAGTGGTCT	0.562																																																	0													65.0	59.0	61.0					3																	35763159		2203	4300	6503	SO:0001583	missense	0			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1058T>G	3.37:g.35763159T>G	ENSP00000187397:p.Leu353Arg		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.L319R	ENST00000187397.4	37	c.956	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641612	0.67244	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.29655	1.56;1.62;1.62;1.6;1.56	5.75	4.53	0.55603	.	0.210965	0.42172	D	0.000744	T	0.40862	0.1134	L	0.61218	1.895	0.37353	D	0.910885	P;P;P	0.51057	0.941;0.918;0.941	P;P;P	0.53313	0.653;0.723;0.653	T	0.38585	-0.9654	10	0.26408	T	0.33	-13.6755	11.5487	0.50708	0.0:0.0:0.2743:0.7257	.	319;353;299	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	R	319;299;299;353;319	ENSP00000414351:L319R;ENSP00000337792:L299R;ENSP00000405276:L299R;ENSP00000187397:L353R;ENSP00000412326:L319R	ENSP00000187397:L353R	L	+	2	0	ARPP21	35738163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.065000	0.41442	2.201000	0.70794	0.533000	0.62120	CTC	ARPP21	-	NULL	ENSG00000172995		0.562	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	-	0.00	11	0	T	NM_198399		35763159	+1	tier1	-	no_errors	ENST00000417925	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.989	G
ASTN1	460	genome.wustl.edu	37	1	176926901	176926901	+	Silent	SNP	C	C	A	rs367953854		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:176926901C>A	ENST00000367654.3	-	11	2035	c.1824G>T	c.(1822-1824)ccG>ccT	p.P608P	ASTN1_ENST00000424564.2_Silent_p.P600P|ASTN1_ENST00000367657.3_Silent_p.P600P|ASTN1_ENST00000361833.2_Silent_p.P600P|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	608	EGF-like 2.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGTCGCGCACCGGCCCAAAGG	0.547																																																	0													62.0	58.0	59.0					1																	176926901		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1824G>T	1.37:g.176926901C>A			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.P608	ENST00000367654.3	37	c.1824		1																																																																																			ASTN1	-	NULL	ENSG00000152092		0.547	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0.00	11	0	C	NM_004319		176926901	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	silent	29.27	29	12	SNP	0.111	A
ATF7IP	55729	genome.wustl.edu	37	12	14650645	14650645	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:14650645C>G	ENST00000540793.1	+	14	3606	c.3451C>G	c.(3451-3453)Ctg>Gtg	p.L1151V	ATF7IP_ENST00000544627.1_Missense_Mutation_p.L1159V|ATF7IP_ENST00000261168.4_Missense_Mutation_p.L1151V|ATF7IP_ENST00000536444.1_Missense_Mutation_p.L1150V			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1151					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACCACAGCGTCTGCCCCCAGA	0.527																																																	0													84.0	79.0	81.0					12																	14650645		2203	4300	6503	SO:0001583	missense	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3451C>G	12.37:g.14650645C>G	ENSP00000444589:p.Leu1151Val		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.L1151V	ENST00000540793.1	37	c.3451	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440928	0.43326	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.65	3.84	0.44239	.	0.144113	0.32106	N	0.006564	T	0.40473	0.1118	L	0.59436	1.845	0.42812	D	0.993966	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.08764	-1.0706	10	0.52906	T	0.07	-2.4503	11.5633	0.50790	0.0:0.767:0.1084:0.1246	.	1150;1151	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	V	1151;1150;1159;1151	ENSP00000261168:L1151V;ENSP00000445955:L1150V;ENSP00000440440:L1159V;ENSP00000444589:L1151V	ENSP00000261168:L1151V	L	+	1	2	ATF7IP	14541912	0.986000	0.35501	0.968000	0.41197	0.981000	0.71138	1.990000	0.40717	0.433000	0.26313	-0.795000	0.03280	CTG	ATF7IP	-	NULL	ENSG00000171681		0.527	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	-	0.00	9	0	C	NM_018179		14650645	+1	tier1	-	no_errors	ENST00000261168	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.983	G
ATP11B	23200	genome.wustl.edu	37	3	182586882	182586883	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:182586882_182586883insT	ENST00000323116.5	+	16	1965_1966	c.1705_1706insT	c.(1705-1707)attfs	p.I569fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	569					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ACTGCTTCATATTCTGGAATTT	0.262																																																	0																																										SO:0001589	frameshift_variant	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1707dupT	3.37:g.182586884_182586884dupT	ENSP00000321195:p.Ile569fs		Q96FN1|Q9UKK7	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L570fs	ENST00000323116.5	37	c.1705_1706	CCDS33896.1	3																																																																																			ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000058063		0.262	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1		0.00	59	0	-	NM_014616		182586883	+1	tier1		no_errors	ENST00000323116	ensembl	human	known	74_37	frame_shift_ins	12.20	144	20	INS	0.899:0.993	T
ATP9A	10079	genome.wustl.edu	37	20	50221436	50221436	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr20:50221436C>A	ENST00000338821.5	-	27	3191	c.2927G>T	c.(2926-2928)tGg>tTg	p.W976L	ATP9A_ENST00000311637.5_Missense_Mutation_p.W840L|ATP9A_ENST00000402822.1_Missense_Mutation_p.W855L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	976					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAGCCAGTGCCAGGTCTGGAT	0.582																																																	0													65.0	48.0	54.0					20																	50221436		2203	4300	6503	SO:0001583	missense	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2927G>T	20.37:g.50221436C>A	ENSP00000342481:p.Trp976Leu		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.W976L	ENST00000338821.5	37	c.2927	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037527	0.93630	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.57752	0.38;0.38;0.38	4.91	4.91	0.64330	.	0.113982	0.64402	D	0.000004	T	0.79137	0.4395	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.91635	0.954;0.999	D	0.84868	0.0823	10	0.87932	D	0	-21.4239	18.1138	0.89543	0.0:1.0:0.0:0.0	.	855;976	O75110-2;O75110	.;ATP9A_HUMAN	L	840;976;855	ENSP00000309086:W840L;ENSP00000342481:W976L;ENSP00000385875:W855L	ENSP00000309086:W840L	W	-	2	0	ATP9A	49654843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.712000	0.84684	2.261000	0.74972	0.655000	0.94253	TGG	ATP9A	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000054793		0.582	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0.00	18	0	C	NM_006045		50221436	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	GL000237.1	2485	2485	+	IGR	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrGL000237.1:2485C>T								None (None upstream) : None (None downstream)																							ctccggctgccatcttactgc	0.627																																																	0																																										SO:0001628	intergenic_variant	0																															GL000237.1.37:g.2485C>T				Missense_Mutation	SNP	pfam_BAGE	p.M1I		37	c.3		GL000237.1																																																																																			BAGE5	-	pfam_BAGE	ENSG00000268590	0	0.627					BAGE5	HGNC			-	0.00	22	0	C			2485	-1	tier1	-	no_errors	ENST00000602027	ensembl	human	known	74_37	missense	21.31	48	13	SNP	NULL	T
BICD2	23299	genome.wustl.edu	37	9	95481107	95481107	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:95481107G>A	ENST00000375512.3	-	5	1887	c.1820C>T	c.(1819-1821)cCc>cTc	p.P607L	BICD2_ENST00000356884.6_Missense_Mutation_p.P607L	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	607					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAGGCGAGGGGCTGCTGTC	0.667																																																	0													29.0	27.0	28.0					9																	95481107		2200	4296	6496	SO:0001583	missense	0			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1820C>T	9.37:g.95481107G>A	ENSP00000364662:p.Pro607Leu		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.P607L	ENST00000375512.3	37	c.1820	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208431	0.39003	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.43688	0.94;0.94	5.18	4.28	0.50868	.	0.053657	0.85682	N	0.000000	T	0.39009	0.1062	L	0.54323	1.7	0.54753	D	0.999985	P;P	0.52316	0.952;0.896	B;B	0.43838	0.306;0.433	T	0.16988	-1.0384	10	0.25106	T	0.35	-37.2993	11.8391	0.52344	0.0864:0.0:0.9136:0.0	.	607;607	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	L	607	ENSP00000349351:P607L;ENSP00000364662:P607L	ENSP00000349351:P607L	P	-	2	0	BICD2	94520928	1.000000	0.71417	0.890000	0.34922	0.180000	0.23129	6.173000	0.71937	1.333000	0.45449	0.561000	0.74099	CCC	BICD2	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000185963		0.667	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	-	0.00	12	0	G	NM_015250		95481107	-1	tier1	-	no_errors	ENST00000356884	ensembl	human	known	74_37	missense	55.56	8	10	SNP	1.000	A
C11orf73	51501	genome.wustl.edu	37	11	86056753	86056753	+	3'UTR	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr11:86056753A>G	ENST00000278483.3	+	0	893					NM_016401.3	NP_057485.2	Q53FT3	HIKES_HUMAN	chromosome 11 open reading frame 73						cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565)			kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				ATCTAAAAGTATGAGGTCAAA	0.259																																																	0													8.0	6.0	7.0					11																	86056753		678	1525	2203	SO:0001624	3_prime_UTR_variant	0			BC015991	CCDS8275.1	11q14.2	2013-03-12			ENSG00000149196	ENSG00000149196			26938	protein-coding gene	gene with protein product		614908				11042152, 22541429	Standard	NM_016401		Approved	HSPC138, HSPC179, Hikeshi, OPI10	uc001pbu.3	Q53FT3	OTTHUMG00000167212	ENST00000278483.3:c.*73A>G	11.37:g.86056753A>G			Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1	RNA	SNP	-	NULL	ENST00000278483.3	37	NULL	CCDS8275.1	11																																																																																			C11orf73	-	-	ENSG00000149196		0.259	C11orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf73	HGNC	protein_coding	OTTHUMT00000393747.1	-	0.00	24	0	A	NM_016401		86056753	+1	tier1	-	no_errors	ENST00000531485	ensembl	human	known	74_37	rna	48.84	22	21	SNP	0.001	G
C17orf78	284099	genome.wustl.edu	37	17	35736300	35736300	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:35736300G>C	ENST00000300618.4	+	3	421	c.371G>C	c.(370-372)gGa>gCa	p.G124A	ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.G124A	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	124						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				TTTCAGACTGGATCTCTTCTA	0.478																																																	0													78.0	76.0	77.0					17																	35736300		1905	4125	6030	SO:0001583	missense	0			BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.371G>C	17.37:g.35736300G>C	ENSP00000300618:p.Gly124Ala		Q8N8D2	Missense_Mutation	SNP	NULL	p.G124A	ENST00000300618.4	37	c.371	CCDS45655.1	17	.	.	.	.	.	.	.	.	.	.	G	5.151	0.213375	0.09757	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.49432	0.78	4.86	3.89	0.44902	.	0.425811	0.20387	N	0.093333	T	0.50240	0.1604	L	0.36672	1.1	0.09310	N	1	P;P	0.49961	0.93;0.93	P;P	0.56823	0.807;0.807	T	0.33523	-0.9865	10	0.36615	T	0.2	-1.3633	10.4448	0.44488	0.0:0.0:0.8059:0.1941	.	124;124	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	A	124	ENSP00000300618:G124A	ENSP00000300618:G124A	G	+	2	0	C17orf78	32810413	0.850000	0.29656	0.042000	0.18584	0.132000	0.20833	1.927000	0.40094	1.251000	0.43983	0.655000	0.94253	GGA	C17orf78	-	NULL	ENSG00000167230		0.478	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C17orf78	HGNC	protein_coding	OTTHUMT00000451570.2	-	0.00	14	0	G	NM_173625		35736300	+1	tier1	-	no_errors	ENST00000300618	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.115	C
C6orf58	352999	genome.wustl.edu	37	6	127911258	127911258	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:127911258C>T	ENST00000329722.7	+	5	713	c.701C>T	c.(700-702)gCg>gTg	p.A234V		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	234						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAAGCAGAAGCGCATTTTGAG	0.368																																																	0													102.0	105.0	104.0					6																	127911258		2203	4300	6503	SO:0001583	missense	0			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.701C>T	6.37:g.127911258C>T	ENSP00000328069:p.Ala234Val		B4E1I0|Q5VUP2	Missense_Mutation	SNP	pfam_DUF781	p.A234V	ENST00000329722.7	37	c.701	CCDS34533.1	6	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711850	0.30322	.	.	ENSG00000184530	ENST00000329722	T	0.37411	1.2	5.01	1.07	0.20283	.	0.890465	0.09882	N	0.743527	T	0.10121	0.0248	L	0.60957	1.885	0.09310	N	1	P	0.44877	0.845	B	0.33121	0.158	T	0.18555	-1.0333	10	0.27082	T	0.32	-3.2288	3.9529	0.09377	0.328:0.4916:0.0:0.1804	.	234	Q6P5S2	CF058_HUMAN	V	234	ENSP00000328069:A234V	ENSP00000328069:A234V	A	+	2	0	C6orf58	127952951	0.001000	0.12720	0.135000	0.22099	0.404000	0.30871	-1.030000	0.03581	0.007000	0.14760	-0.182000	0.12963	GCG	C6orf58	-	pfam_DUF781	ENSG00000184530		0.368	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf58	HGNC	protein_coding	OTTHUMT00000042152.1	-	0.00	34	0	C	NM_001010905		127911258	+1	tier1	-	no_errors	ENST00000329722	ensembl	human	known	74_37	missense	11.90	74	10	SNP	0.156	T
C8orf34	116328	genome.wustl.edu	37	8	69243280	69243280	+	5'UTR	SNP	G	G	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr8:69243280G>C	ENST00000539993.1	+	0	324				RP11-664D7.4_ENST00000512294.3_Intron|C8orf34_ENST00000518698.1_Missense_Mutation_p.E11D|C8orf34_ENST00000523686.1_5'Flank|C8orf34_ENST00000348340.2_5'Flank			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGTTGTCTGAGTTGGCGGCGC	0.746																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.-226G>C	8.37:g.69243280G>C			A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.E11D	ENST00000539993.1	37	c.33		8	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025524	0.75390	.	.	ENSG00000165084	ENST00000518698	T	0.49432	0.78	4.34	4.34	0.51931	.	0.000000	0.36482	N	0.002570	T	0.33000	0.0848	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.15263	-1.0443	7	.	.	.	.	14.2326	0.65903	0.0:0.0:1.0:0.0	.	.	.	.	D	11	ENSP00000427820:E11D	.	E	+	3	2	C8orf34	69405834	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.163000	0.58183	2.415000	0.81967	0.462000	0.41574	GAG	C8orf34	-	NULL	ENSG00000165084		0.746	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		-	0.00	11	0	G	NM_052958		69243280	+1	tier1	-	no_errors	ENST00000518698	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	C
CCDC30	728621	genome.wustl.edu	37	1	43111845	43111845	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:43111845G>T	ENST00000340612.4	+	13	1930	c.1930G>T	c.(1930-1932)Ggc>Tgc	p.G644C	CCDC30_ENST00000342022.4_Missense_Mutation_p.G644C|CCDC30_ENST00000507855.1_Missense_Mutation_p.G433C|CCDC30_ENST00000390640.4_Missense_Mutation_p.G433C|CCDC30_ENST00000428554.2_Missense_Mutation_p.G644C			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	644						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						gtggcatagaggcaagctggc	0.383																																																	0													41.0	39.0	39.0					1																	43111845		2200	4296	6496	SO:0001583	missense	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1930G>T	1.37:g.43111845G>T	ENSP00000340378:p.Gly644Cys		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.G644C	ENST00000340612.4	37	c.1930	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433227	0.25813	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	0.427	0.427	0.16489	.	0.748436	0.10001	U	0.728411	T	0.50377	0.1612	L	0.36672	1.1	0.22305	N	0.999213	D;D	0.71674	0.998;0.978	P;B	0.59948	0.866;0.373	T	0.39981	-0.9587	9	0.56958	D	0.05	.	.	.	.	.	644;433	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	C	644;433;644;644;433	ENSP00000397035:G644C;ENSP00000426711:G433C;ENSP00000340378:G644C;ENSP00000339280:G644C;ENSP00000375051:G433C	ENSP00000340378:G644C	G	+	1	0	CCDC30	42884432	0.134000	0.22483	0.663000	0.29738	0.723000	0.41478	0.648000	0.24828	0.458000	0.26988	0.467000	0.42956	GGC	CCDC30	-	NULL	ENSG00000186409		0.383	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	-	0.00	46	0	G	NM_025030		43111845	+1	tier1	-	no_errors	ENST00000340612	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.743	T
CCER1	196477	genome.wustl.edu	37	12	91347661	91347661	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:91347661C>T	ENST00000358859.2	-	1	1292	c.859G>A	c.(859-861)Gag>Aag	p.E287K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	287	Glu-rich.																tactcctcctcatcatcattt	0.522																																																	0													223.0	216.0	218.0					12																	91347661		2203	4300	6503	SO:0001583	missense	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.859G>A	12.37:g.91347661C>T	ENSP00000351727:p.Glu287Lys		Q8TC47	Missense_Mutation	SNP	NULL	p.E287K	ENST00000358859.2	37	c.859	CCDS9036.1	12	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802336	0.31869	.	.	ENSG00000197651	ENST00000358859	T	0.31510	1.49	5.0	3.14	0.36123	.	.	.	.	.	T	0.25754	0.0627	N	0.19112	0.55	0.09310	N	1	P	0.50156	0.932	P	0.51135	0.66	T	0.05937	-1.0855	9	0.35671	T	0.21	-3.4829	6.2145	0.20648	0.1812:0.7242:0.0:0.0946	.	287	Q8TC90	CL012_HUMAN	K	287	ENSP00000351727:E287K	ENSP00000351727:E287K	E	-	1	0	C12orf12	89871792	0.005000	0.15991	0.005000	0.12908	0.064000	0.16182	0.809000	0.27168	0.656000	0.30886	0.397000	0.26171	GAG	CCER1	-	NULL	ENSG00000197651		0.522	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	-	0.00	16	0	C	NM_152638		91347661	-1	tier1	-	no_errors	ENST00000358859	ensembl	human	known	74_37	missense	37.84	23	14	SNP	0.011	T
CCHCR1	54535	genome.wustl.edu	37	6	31122453	31122453	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:31122453C>G	ENST00000376266.5	-	4	476	c.354G>C	c.(352-354)caG>caC	p.Q118H	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.Q207H|CCHCR1_ENST00000451521.2_Missense_Mutation_p.Q171H|CCHCR1_ENST00000396263.2_Missense_Mutation_p.Q118H	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	118					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCCTCATCTTCTGCTGCAGCG	0.682																																																	0													59.0	72.0	67.0					6																	31122453		1507	2709	4216	SO:0001583	missense	0			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.354G>C	6.37:g.31122453C>G	ENSP00000365442:p.Gln118His		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.Q207H	ENST00000376266.5	37	c.621	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886634	0.72410	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162;ENST00000513222;ENST00000503420;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245;ENST00000503934;ENST00000426967;ENST00000502557	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43	5.33	4.46	0.54185	.	0.181162	0.35936	N	0.002898	T	0.12689	0.0308	M	0.73598	2.24	0.34808	D	0.737429	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.998	T	0.02581	-1.1138	10	0.45353	T	0.12	-25.7655	9.973	0.41765	0.0:0.906:0.0:0.094	.	118;118;118;171;207	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	H	207;118;118;118;171;82;82;118;92;82;118;118;118;144;118;216;118	ENSP00000379566:Q207H;ENSP00000365442:Q118H;ENSP00000379561:Q118H;ENSP00000401039:Q171H;ENSP00000414323:Q82H;ENSP00000421393:Q82H;ENSP00000390027:Q118H;ENSP00000425682:Q92H;ENSP00000421992:Q82H;ENSP00000420941:Q118H;ENSP00000398715:Q118H;ENSP00000425595:Q118H;ENSP00000402432:Q216H;ENSP00000425377:Q118H	ENSP00000365442:Q118H	Q	-	3	2	CCHCR1	31230432	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.650000	0.37292	1.266000	0.44231	0.638000	0.83543	CAG	CCHCR1	-	pfam_HCR	ENSG00000204536		0.682	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5	-	0.00	8	0	C	NM_019052		31122453	-1	tier1	-	no_errors	ENST00000396268	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	G
CCSER2	54462	genome.wustl.edu	37	10	86273532	86273532	+	3'UTR	SNP	C	C	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr10:86273532C>G	ENST00000224756.8	+	0	2923				CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000372088.2_Missense_Mutation_p.P885A	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2						microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											GCAGTTTATACCCACTTCTCT	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.*233C>G	10.37:g.86273532C>G			B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.P885A	ENST00000224756.8	37	c.2653	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.633889	0.00806	.	.	ENSG00000107771	ENST00000372088	T	0.21361	2.01	6.04	2.03	0.26663	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.09310	N	0.999999	B;B	0.18166	0.003;0.026	B;B	0.16289	0.003;0.015	T	0.36792	-0.9733	8	0.22109	T	0.4	.	5.4144	0.16365	0.2648:0.5439:0.1213:0.07	.	885;157	Q9H7U1-3;Q6N055	.;.	A	885	ENSP00000361160:P885A	ENSP00000361160:P885A	P	+	1	0	FAM190B	86263512	0.001000	0.12720	0.007000	0.13788	0.955000	0.61496	0.399000	0.20916	0.111000	0.17947	-0.253000	0.11424	CCC	CCSER2	-	NULL	ENSG00000107771		0.428	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	HGNC	protein_coding	OTTHUMT00000049132.2	-	0.00	19	0	C	NM_018999		86273532	+1	tier1	-	no_errors	ENST00000372088	ensembl	human	known	74_37	missense	27.66	34	13	SNP	0.018	G
CCT2	10576	genome.wustl.edu	37	12	69986782	69986782	+	Silent	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:69986782C>T	ENST00000299300.6	+	9	965	c.777C>T	c.(775-777)gaC>gaT	p.D259D	CCT2_ENST00000543146.2_Silent_p.D212D|CCT2_ENST00000544368.2_Silent_p.D259D	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	259					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAAGAGTTGACTCTACAGCAA	0.363																																																	0													80.0	81.0	80.0					12																	69986782		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.777C>T	12.37:g.69986782C>T			A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.D259	ENST00000299300.6	37	c.777	CCDS8991.1	12																																																																																			CCT2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_beta	ENSG00000166226		0.363	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	-	0.00	43	0	C	NM_006431		69986782	+1	tier1	-	no_errors	ENST00000299300	ensembl	human	known	74_37	silent	32.00	68	32	SNP	1.000	T
CLASP2	23122	genome.wustl.edu	37	3	33686848	33686848	+	5'UTR	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:33686848C>T	ENST00000487200.1	-	0	147				CLASP2_ENST00000333778.6_5'Flank|CLASP2_ENST00000480013.1_Intron|CLASP2_ENST00000539981.1_5'Flank|CLASP2_ENST00000359576.5_Intron|CLASP2_ENST00000307312.7_Intron|CLASP2_ENST00000313350.6_5'UTR|CLASP2_ENST00000461133.3_Intron|CLASP2_ENST00000482896.1_Intron|CLASP2_ENST00000399362.4_Intron|CLASP2_ENST00000468888.2_Intron			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2						axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGGAGGCTCCCAATAGTTCA	0.418																																																	0													114.0	110.0	111.0					3																	33686848		876	1991	2867	SO:0001623	5_prime_UTR_variant	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000487200.1:c.-41G>A	3.37:g.33686848C>T			Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	RNA	SNP	-	NULL	ENST00000487200.1	37	NULL		3																																																																																			CLASP2	-	-	ENSG00000163539		0.418	CLASP2-006	NOVEL	basic	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000356448.2	-	0.00	24	0	C	NM_001207044		33686848	-1	tier1	-	no_errors	ENST00000476433	ensembl	human	known	74_37	rna	38.00	31	19	SNP	0.947	T
CLCA2	9635	genome.wustl.edu	37	1	86900239	86900239	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:86900239A>C	ENST00000370565.4	+	6	945	c.783A>C	c.(781-783)gaA>gaC	p.E261D		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	261					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACAACCAAGAAGCACCAAACC	0.433																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													137.0	125.0	129.0					1																	86900239		2203	4300	6503	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.783A>C	1.37:g.86900239A>C	ENSP00000359596:p.Glu261Asp		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.E261D	ENST00000370565.4	37	c.783	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949650	0.73787	.	.	ENSG00000137975	ENST00000370565	T	0.19806	2.12	6.17	2.34	0.29019	Chloride channel calcium-activated (1);	0.118324	0.56097	D	0.000030	T	0.08492	0.0211	M	0.66378	2.025	0.36945	D	0.892588	B	0.24258	0.1	B	0.28916	0.096	T	0.07809	-1.0753	10	0.41790	T	0.15	-21.0016	1.5412	0.02556	0.5334:0.1349:0.202:0.1297	.	261	Q9UQC9	CLCA2_HUMAN	D	261	ENSP00000359596:E261D	ENSP00000359596:E261D	E	+	3	2	CLCA2	86672827	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.370000	0.20433	0.521000	0.28445	0.533000	0.62120	GAA	CLCA2	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000137975		0.433	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	-	0.00	23	0	A	NM_006536		86900239	+1	tier1	-	no_errors	ENST00000370565	ensembl	human	known	74_37	missense	33.33	38	19	SNP	1.000	C
CLDN9	9080	genome.wustl.edu	37	16	3063367	3063367	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr16:3063367G>A	ENST00000445369.2	+	1	911	c.4G>A	c.(4-6)Gct>Act	p.A2T		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	2					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GGGCCAGATGGCTTCGACCGG	0.652																																																	0													70.0	60.0	63.0					16																	3063367		2198	4300	6498	SO:0001583	missense	0			AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.4G>A	16.37:g.3063367G>A	ENSP00000398017:p.Ala2Thr			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9	p.A2T	ENST00000445369.2	37	c.4	CCDS10487.1	16	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675457	0.67928	.	.	ENSG00000213937	ENST00000445369	D	0.85171	-1.95	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.89033	0.6600	M	0.80332	2.49	0.80722	D	1	P	0.46457	0.878	P	0.49561	0.615	D	0.90687	0.4610	10	0.66056	D	0.02	.	15.105	0.72315	0.0:0.0:1.0:0.0	.	2	O95484	CLD9_HUMAN	T	2	ENSP00000398017:A2T	ENSP00000398017:A2T	A	+	1	0	CLDN9	3003368	1.000000	0.71417	0.998000	0.56505	0.037000	0.13140	4.353000	0.59411	2.424000	0.82194	0.585000	0.79938	GCT	CLDN9	-	NULL	ENSG00000213937		0.652	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN9	HGNC	protein_coding	OTTHUMT00000250989.1	-	0.00	12	0	G	NM_020982		3063367	+1	tier1	-	no_errors	ENST00000445369	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	A
CMTM8	152189	genome.wustl.edu	37	3	32409471	32409471	+	Silent	SNP	G	G	T	rs373166159		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:32409471G>T	ENST00000307526.3	+	3	723	c.429G>T	c.(427-429)gcG>gcT	p.A143A	CMTM8_ENST00000458535.2_Silent_p.A85A	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	143	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ACAGCTGGGCGGCCTCATCGG	0.552																																																	0													145.0	105.0	118.0					3																	32409471		2203	4300	6503	SO:0001819	synonymous_variant	0			AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"""chemokine-like factor super family 8"", ""chemokine-like factor superfamily 8"""	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.429G>T	3.37:g.32409471G>T			A5D6I7|Q8IW01	Silent	SNP	pfam_Marvel,prints_MAL	p.A143	ENST00000307526.3	37	c.429	CCDS2652.1	3																																																																																			CMTM8	-	pfam_Marvel,prints_MAL	ENSG00000170293		0.552	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMTM8	HGNC	protein_coding	OTTHUMT00000253253.1	-	0.00	11	0	G	NM_178868		32409471	+1	tier1	-	no_errors	ENST00000307526	ensembl	human	known	74_37	silent	57.14	6	8	SNP	0.006	T
CNTNAP3	79937	genome.wustl.edu	37	9	39073896	39073899	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	TTCT	TTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:39073896_39073899delTTCT	ENST00000297668.6	-	24	3928_3931	c.3855_3858delAGAA	c.(3853-3858)aaagaafs	p.KE1285fs	CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.KE1204fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1285					cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCTAGCACTCTTCTTTTTTTGAGA	0.426																																																	0																																										SO:0001589	frameshift_variant	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3855_3858delAGAA	9.37:g.39073896_39073899delTTCT	ENSP00000297668:p.Lys1285fs		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E1286fs	ENST00000297668.6	37	c.3858_3855	CCDS6616.1	9																																																																																			CNTNAP3	-	NULL	ENSG00000106714		0.426	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1		0.00	8	0	TTCT	NM_033655		39073899	-1	tier1		no_errors	ENST00000297668	ensembl	human	known	74_37	frame_shift_del	42.86	16	12	DEL	0.987:0.983:0.986:0.966	-
COBLL1	22837	genome.wustl.edu	37	2	165548881	165548881	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:165548881C>G	ENST00000392717.2	-	14	3382	c.3378G>C	c.(3376-3378)caG>caC	p.Q1126H	COBLL1_ENST00000409184.3_Missense_Mutation_p.Q1088H|COBLL1_ENST00000375458.2_Missense_Mutation_p.Q1050H|COBLL1_ENST00000194871.6_Missense_Mutation_p.Q1155H|COBLL1_ENST00000342193.4_Missense_Mutation_p.Q1088H			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1126						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTTGGGAATTCTGTTCATTAT	0.348																																																	0													119.0	115.0	117.0					2																	165548881		2203	4300	6503	SO:0001583	missense	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3378G>C	2.37:g.165548881C>G	ENSP00000376478:p.Gln1126His		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.Q1155H	ENST00000392717.2	37	c.3465		2	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149762	0.37923	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.73	2.82	0.32997	.	0.212016	0.33457	N	0.004881	T	0.22205	0.0535	N	0.17474	0.49	0.22796	N	0.998724	D;D;P	0.54047	0.964;0.964;0.954	P;P;P	0.49451	0.492;0.492;0.611	T	0.06625	-1.0816	8	.	.	.	-0.3895	7.2529	0.26160	0.0:0.5987:0.1482:0.2531	.	1126;1155;1088	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	H	1050;1088;1088;1126;1155	.	.	Q	-	3	2	COBLL1	165257127	0.762000	0.28451	0.980000	0.43619	0.812000	0.45895	-0.052000	0.11865	0.348000	0.23949	0.557000	0.71058	CAG	COBLL1	-	NULL	ENSG00000082438		0.348	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		-	0.00	23	0	C	NM_014900		165548881	-1	tier1	-	no_errors	ENST00000194871	ensembl	human	known	74_37	missense	14.29	54	9	SNP	0.976	G
COL15A1	1306	genome.wustl.edu	37	9	101818559	101818559	+	Silent	SNP	A	A	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:101818559A>C	ENST00000375001.3	+	35	3633	c.3210A>C	c.(3208-3210)acA>acC	p.T1070T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1070	Triple-helical region 8 (COL8).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AAGGGGAGACAGTCGTTGGGC	0.567																																																	0													81.0	80.0	80.0					9																	101818559		2203	4300	6503	SO:0001819	synonymous_variant	0			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3210A>C	9.37:g.101818559A>C			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.T1070	ENST00000375001.3	37	c.3210	CCDS35081.1	9																																																																																			COL15A1	-	NULL	ENSG00000204291		0.567	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0.00	17	0	A	NM_001855		101818559	+1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	silent	62.50	12	20	SNP	0.000	C
COL6A1	1291	genome.wustl.edu	37	21	47423346	47423346	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr21:47423346G>A	ENST00000361866.3	+	35	2620	c.2506G>A	c.(2506-2508)Ggc>Agc	p.G836S	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	836	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.			DGSAS -> EPPPD (in Ref. 1; CAA33889). {ECO:0000305}.	axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGCTGGACGGCTCCGCCAG	0.692																																																	0													18.0	21.0	20.0					21																	47423346		2172	4225	6397	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2506G>A	21.37:g.47423346G>A	ENSP00000355180:p.Gly836Ser		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G836S	ENST00000361866.3	37	c.2506	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854177	0.51270	.	.	ENSG00000142156	ENST00000361866	D	0.83673	-1.75	4.84	1.48	0.22813	von Willebrand factor, type A (3);	0.166096	0.51477	N	0.000087	T	0.53867	0.1823	N	0.03154	-0.405	0.26809	N	0.969044	B	0.10296	0.003	B	0.08055	0.003	T	0.47724	-0.9095	10	0.02654	T	1	-13.0292	5.7614	0.18203	0.6655:0.0:0.3345:0.0	.	836	P12109	CO6A1_HUMAN	S	836	ENSP00000355180:G836S	ENSP00000355180:G836S	G	+	1	0	COL6A1	46247774	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	1.711000	0.37930	0.451000	0.26802	-0.274000	0.10170	GGC	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.692	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0.00	13	0	G	NM_001848		47423346	+1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	74.19	8	23	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113314147	113314147	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr8:113314147C>T	ENST00000297405.5	-	53	8559	c.8315G>A	c.(8314-8316)gGa>gAa	p.G2772E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2732E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2702E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2603E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2772	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTTTGAGTTCCAATCTTATT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													119.0	119.0	119.0					8																	113314147		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8315G>A	8.37:g.113314147C>T	ENSP00000297405:p.Gly2772Glu		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G2772E	ENST00000297405.5	37	c.8315	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935672	0.92458	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.62	5.62	0.85841	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.82884	0.5134	M	0.87328	2.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83729	0.0197	10	0.52906	T	0.07	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	2603;2772;2732	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	2732;2772;2042;2603;2702	ENSP00000345799:G2732E;ENSP00000297405:G2772E;ENSP00000341558:G2042E;ENSP00000412263:G2603E;ENSP00000343124:G2702E	ENSP00000297405:G2772E	G	-	2	0	CSMD3	113383323	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.666000	0.83877	2.809000	0.96659	0.655000	0.94253	GGA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	18	0	C	NM_052900		113314147	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	16.90	59	12	SNP	1.000	T
DDX3X	1654	genome.wustl.edu	37	X	41207100	41207100	+	3'UTR	DEL	T	T	-			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrX:41207100delT	ENST00000399959.2	+	0	2972				DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_3'UTR|DDX3X_ENST00000457138.2_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked						ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TCCACTGAAATTTTTTTTTTA	0.398										HNSCC(61;0.18)																																							0																																										SO:0001624	3_prime_UTR_variant	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.*128T>-	X.37:g.41207100delT			A8K538|B4E3E8|O15536	RNA	DEL	-	NULL	ENST00000399959.2	37	NULL	CCDS43931.1	X																																																																																			DDX3X	-	-	ENSG00000215301		0.398	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1		0.00	14	0	T	NM_024005		41207100	+1	tier1		no_errors	ENST00000478993	ensembl	human	known	74_37	rna	16.00	21	4	DEL	1.000	-
DCAF12L1	139170	genome.wustl.edu	37	X	125685222	125685222	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrX:125685222T>C	ENST00000371126.1	-	1	1612	c.1370A>G	c.(1369-1371)aAc>aGc	p.N457S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	457								p.N457T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCTGCATAGTTCCCATGGAG	0.542																																																	1	Substitution - Missense(1)	urinary_tract(1)											68.0	69.0	69.0					X																	125685222		2203	4300	6503	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1370A>G	X.37:g.125685222T>C	ENSP00000360167:p.Asn457Ser		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N457S	ENST00000371126.1	37	c.1370	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376717	0.61735	.	.	ENSG00000198889	ENST00000371126	T	0.20463	2.07	3.85	3.85	0.44370	.	0.194029	0.25572	N	0.029752	T	0.24198	0.0586	L	0.52126	1.63	0.34467	D	0.702431	P	0.52316	0.952	P	0.46885	0.53	T	0.41538	-0.9503	10	0.72032	D	0.01	.	10.0925	0.42456	0.0:0.0:0.0:1.0	.	457	Q5VU92	DC121_HUMAN	S	457	ENSP00000360167:N457S	ENSP00000360167:N457S	N	-	2	0	DCAF12L1	125512903	1.000000	0.71417	0.055000	0.19348	0.841000	0.47740	6.993000	0.76245	1.743000	0.51761	0.417000	0.27973	AAC	DCAF12L1	-	NULL	ENSG00000198889		0.542	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0.00	21	0	T	NM_178470		125685222	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	missense	53.85	30	35	SNP	0.999	C
DHX32	55760	genome.wustl.edu	37	10	127548228	127548228	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr10:127548228C>T	ENST00000284690.3	-	3	1283	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	DHX32_ENST00000284688.6_Missense_Mutation_p.E265K	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	265						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGGTGAATTTCAAAGATAAGG	0.393																																																	0													69.0	74.0	72.0					10																	127548228		2203	4300	6503	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.793G>A	10.37:g.127548228C>T	ENSP00000284690:p.Glu265Lys		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.E265K	ENST00000284690.3	37	c.793	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952086	0.92660	.	.	ENSG00000089876	ENST00000284690;ENST00000284688	T;T	0.13538	2.58;2.58	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	M	0.77406	2.37	0.35447	D	0.79535	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.54853	-0.8231	10	0.87932	D	0	-25.4596	17.1401	0.86750	0.0:1.0:0.0:0.0	.	265;265	Q7L7V1-2;Q7L7V1	.;DHX32_HUMAN	K	265	ENSP00000284690:E265K;ENSP00000284688:E265K	ENSP00000284688:E265K	E	-	1	0	DHX32	127538218	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.415000	0.52700	2.512000	0.84698	0.655000	0.94253	GAA	DHX32	-	superfamily_P-loop_NTPase	ENSG00000089876		0.393	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	-	0.00	38	0	C	NM_018180		127548228	-1	tier1	-	no_errors	ENST00000284690	ensembl	human	known	74_37	missense	9.59	66	7	SNP	1.000	T
DHX35	60625	genome.wustl.edu	37	20	37650518	37650518	+	Silent	SNP	C	C	T	rs534416816	byFrequency	TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr20:37650518C>T	ENST00000252011.3	+	16	1566	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	DHX35_ENST00000373325.2_Silent_p.I511I|DHX35_ENST00000373323.4_Silent_p.I480I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	511					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TTCTAAGCATCGCTGCCATGA	0.443													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15185	0.0		0.0	False		,,,				2504	0.0																0													174.0	171.0	172.0					20																	37650518		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1533C>T	20.37:g.37650518C>T			A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I511	ENST00000252011.3	37	c.1533	CCDS13310.1	20																																																																																			DHX35	-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000101452		0.443	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	-	0.00	29	0	C	NM_021931		37650518	+1	tier1	-	no_errors	ENST00000252011	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.805	T
DNAH8	1769	genome.wustl.edu	37	6	38854597	38854597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:38854597G>T	ENST00000359357.3	+	55	7893	c.7639G>T	c.(7639-7641)Gaa>Taa	p.E2547*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E2511*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E2764*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2547	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGATGATGGAAATGGAAGG	0.388																																																	0													145.0	133.0	137.0					6																	38854597		2203	4300	6503	SO:0001587	stop_gained	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7639G>T	6.37:g.38854597G>T	ENSP00000352312:p.Glu2547*		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E2547*	ENST00000359357.3	37	c.7639		6	.	.	.	.	.	.	.	.	.	.	G	51	17.662218	0.99891	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.79	5.79	0.91817	.	0.051512	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0366	0.97561	0.0:0.0:1.0:0.0	.	.	.	.	X	2752;2752;2547;2511	.	ENSP00000333363:E2752X	E	+	1	0	DNAH8	38962575	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.750000	0.98875	2.736000	0.93811	0.561000	0.74099	GAA	DNAH8	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000124721		0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0.00	12	0	G	NM_001206927		38854597	+1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	nonsense	25.00	39	13	SNP	1.000	T
DNM1P47	100216544	genome.wustl.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046|rs371768420	byFrequency	TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr15:102312241delA	ENST00000561463.1	+	0	13609				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		AGTGGCCGGGAAATTTGCTGT	0.592													|||unknown(NO_COVERAGE)	1711	0.341653	0.5144	0.3516	5008	,	,		9688	0.0565		0.5089	False		,,,				2504	0.2229																0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312241delA				RNA	DEL	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			DNM1P47	-	-	ENSG00000259660		0.592	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1		0.00	8	0	A	NG_009149		102312241	+1	tier1		no_errors	ENST00000561463	ensembl	human	known	74_37	rna	66.67	4	8	DEL	0.004	-
DRD2	1813	genome.wustl.edu	37	11	113295305	113295305	+	Silent	SNP	G	G	A	rs200831689		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr11:113295305G>A	ENST00000362072.3	-	2	413	c.69C>T	c.(67-69)aaC>aaT	p.N23N	DRD2_ENST00000346454.3_Silent_p.N23N|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Silent_p.N23N|DRD2_ENST00000355319.2_Silent_p.N23N|DRD2_ENST00000538967.1_Silent_p.N23N|DRD2_ENST00000544518.1_Silent_p.N23N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	23					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGTCTGACCCGTTGAAGGGCC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		18588	0.0		0.0	False		,,,				2504	0.001																0													177.0	144.0	155.0					11																	113295305		2201	4296	6497	SO:0001819	synonymous_variant	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.69C>T	11.37:g.113295305G>A			Q9NZR3|Q9UPA9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.N23	ENST00000362072.3	37	c.69	CCDS8361.1	11																																																																																			DRD2	-	NULL	ENSG00000149295		0.592	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	-	0.00	18	0	G	NM_000795		113295305	-1	tier1	rs200831689	no_errors	ENST00000355319	ensembl	human	known	74_37	silent	15.38	33	6	SNP	0.209	A
DYSF	8291	genome.wustl.edu	37	2	71906280	71906280	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:71906280A>C	ENST00000258104.3	+	52	6138	c.5861A>C	c.(5860-5862)gAa>gCa	p.E1954A	DYSF_ENST00000409762.1_Missense_Mutation_p.E1971A|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.E1986A|DYSF_ENST00000410041.1_Missense_Mutation_p.E1972A|DYSF_ENST00000410020.3_Missense_Mutation_p.E1993A|DYSF_ENST00000409366.1_Missense_Mutation_p.E1976A|DYSF_ENST00000413539.2_Missense_Mutation_p.E1985A|DYSF_ENST00000409744.1_Missense_Mutation_p.E1962A|DYSF_ENST00000394120.2_Missense_Mutation_p.E1955A|DYSF_ENST00000429174.2_Missense_Mutation_p.E1975A|DYSF_ENST00000409582.3_Missense_Mutation_p.E1992A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1954					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCCACCCAGAATGGTTTGTG	0.532																																																	0													136.0	122.0	127.0					2																	71906280		2203	4300	6503	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5861A>C	2.37:g.71906280A>C	ENSP00000258104:p.Glu1954Ala		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.E1985A	ENST00000258104.3	37	c.5954	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287566	0.23478	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.28	5.28	0.74379	C2 calcium/lipid-binding domain, CaLB (1);	0.487586	0.24124	N	0.041324	T	0.64249	0.2581	N	0.11560	0.145	0.39872	D	0.973521	B;B;P;P;B;B;B;B;B;P;B;B;B;P;B	0.41524	0.017;0.097;0.753;0.516;0.202;0.004;0.004;0.004;0.004;0.753;0.109;0.13;0.202;0.516;0.382	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.38755	0.009;0.087;0.281;0.281;0.281;0.012;0.006;0.012;0.012;0.281;0.064;0.037;0.205;0.281;0.146	T	0.64533	-0.6385	10	0.12103	T	0.63	-25.981	8.8863	0.35404	0.8334:0.0:0.0:0.1665	.	718;1986;1993;1976;1941;1972;1962;1971;1961;1985;1992;1975;1940;1955;1954	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	A	1985;1971;1992;1975;1954;1986;1955;1962;1976;1993;1972	ENSP00000407046:E1985A;ENSP00000387137:E1971A;ENSP00000386547:E1992A;ENSP00000398305:E1975A;ENSP00000258104:E1954A;ENSP00000386683:E1986A;ENSP00000377678:E1955A;ENSP00000386285:E1962A;ENSP00000386512:E1976A;ENSP00000386881:E1993A;ENSP00000386617:E1972A	ENSP00000258104:E1954A	E	+	2	0	DYSF	71759788	0.995000	0.38212	0.947000	0.38551	0.973000	0.67179	3.844000	0.55873	2.147000	0.66899	0.528000	0.53228	GAA	DYSF	-	superfamily_C2_dom	ENSG00000135636		0.532	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0.00	29	0	A	NM_003494		71906280	+1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	missense	12.12	58	8	SNP	0.960	C
EN1	2019	genome.wustl.edu	37	2	119600737	119600737	+	Missense_Mutation	SNP	T	T	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:119600737T>G	ENST00000295206.6	-	2	1466	c.956A>C	c.(955-957)aAg>aCg	p.K319T	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	319					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GAACTCCGCCTTGAGTCTCTG	0.622																																																	0													48.0	41.0	43.0					2																	119600737		2203	4300	6503	SO:0001583	missense	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.956A>C	2.37:g.119600737T>G	ENSP00000295206:p.Lys319Thr		Q4ZG44	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.K319T	ENST00000295206.6	37	c.956	CCDS2123.1	2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466199	0.84425	.	.	ENSG00000163064	ENST00000295206	D	0.96334	-3.98	4.72	4.72	0.59763	Homeodomain-related (1);Homeobox engrailed (1);Homeobox (3);Homeodomain-like (1);	0.055459	0.64402	D	0.000003	D	0.97660	0.9233	M	0.79123	2.44	0.80722	D	1	D	0.71674	0.998	D	0.67103	0.949	D	0.98366	1.0551	10	0.87932	D	0	-15.6972	13.8739	0.63638	0.0:0.0:0.0:1.0	.	319	Q05925	HME1_HUMAN	T	319	ENSP00000295206:K319T	ENSP00000295206:K319T	K	-	2	0	EN1	119317207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.039000	0.88947	1.765000	0.52091	0.454000	0.30748	AAG	EN1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed	ENSG00000163064		0.622	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3	-	0.00	10	0	T			119600737	-1	tier1	-	no_errors	ENST00000295206	ensembl	human	known	74_37	missense	38.89	22	14	SNP	1.000	G
Unknown	0	genome.wustl.edu	37	GL000205.1	117491	117491	+	IGR	SNP	G	G	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrGL000205.1:117491G>C								None (None upstream) : None (None downstream)																							GTGCAGGTGGGCAGTGGCTAC	0.582																																																	0																																										SO:0001628	intergenic_variant	0																															GL000205.1.37:g.117491G>C				Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_cat_dom	p.G41A		37	c.122		GL000205.1																																																																																			AC011841.1	-	pfam_D-isomer_2_OHA_DH_cat_dom	ENSG00000212884	0	0.582					ENSG00000212884	Clone_based_ensembl_gene			-	0.00	9	0	G			117491	+1	tier1	-	no_errors	ENST00000391571	ensembl	human	known	74_37	missense	16.67	25	5	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	GL000205.1	117561	117561	+	IGR	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrGL000205.1:117561C>T								None (None upstream) : None (None downstream)																							GCATCCCGTCCGCAGCCGTGG	0.617																																																	0																																										SO:0001628	intergenic_variant	0																															GL000205.1.37:g.117561C>T				Silent	SNP	pfam_D-isomer_2_OHA_DH_cat_dom	p.S64		37	c.192		GL000205.1																																																																																			AC011841.1	-	pfam_D-isomer_2_OHA_DH_cat_dom	ENSG00000212884	0	0.617					ENSG00000212884	Clone_based_ensembl_gene			-	0.00	10	0	C			117561	+1	tier1	-	no_errors	ENST00000391571	ensembl	human	known	74_37	silent	26.92	19	7	SNP	NULL	T
ADAM2	2515	genome.wustl.edu	37	8	39613675	39613675	+	Intron	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr8:39613675A>G	ENST00000265708.4	-	16	1717				ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Intron|AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ttttaatggcaaaagccgcaa	0.333																																																	0																																										SO:0001627	intron_variant	0			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1614-245T>C	8.37:g.39613675A>G			P78326|Q9UQQ8	RNA	SNP	-	NULL	ENST00000265708.4	37	NULL	CCDS34884.1	8																																																																																			AC136365.1	-	-	ENSG00000221018		0.333	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221018	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000376926.1	-	0.00	36	0	A	NM_001464		39613675	-1	tier1	-	no_errors	ENST00000408091	ensembl	human	known	74_37	rna	11.71	98	13	SNP	0.012	G
CASR	846	genome.wustl.edu	37	3	122000727	122000728	+	Intron	INS	-	-	TG	rs200602784|rs199795281|rs10533065	byFrequency	TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:122000727_122000728insTG	ENST00000490131.1	+	6	1980				CASR_ENST00000498619.1_Intron|CASR_ENST00000296154.5_Intron|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor						anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	gtgcatgcacatgtgtgtgtgt	0.446																																																	0																																										SO:0001627	intron_variant	0			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1609-232->TG	3.37:g.122000736_122000737dupTG			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	RNA	INS	-	NULL	ENST00000490131.1	37	NULL	CCDS3010.1	3																																																																																			AC068754.1	-	-	ENSG00000221474		0.446	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221474	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000355761.1		0.00	11	0	-	NM_000388		122000728	+1	tier1		no_errors	ENST00000408547	ensembl	human	novel	74_37	rna	6.90	27	2	INS	0.000:0.000	TG
PGM5P2	595135	genome.wustl.edu	37	9	69083127	69083127	+	lincRNA	SNP	A	A	G	rs2492036		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:69083127A>G	ENST00000412376.1	-	0	1441				PGM5P2_ENST00000591037.1_RNA																							atttaattgtattcattaaaa	0.259																																																	0																																												0																															9.37:g.69083127A>G				RNA	SNP	-	NULL	ENST00000412376.1	37	NULL		9																																																																																			RP11-87H9.3	-	-	ENSG00000231242		0.259	RP11-87H9.3-001	KNOWN	basic	lincRNA	ENSG00000231242	Clone_based_vega_gene	lincRNA	OTTHUMT00000143173.1	-	0.00	54	0	A			69083127	-1	tier1	-	no_errors	ENST00000412376	ensembl	human	known	74_37	rna	12.82	68	10	SNP	0.005	G
MYADM	91663	genome.wustl.edu	37	19	54379103	54379104	+	3'UTR	INS	-	-	A	rs75956082|rs75209913|rs566590150|rs369211393		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:54379103_54379104insA	ENST00000391769.2	+	0	2600_2601				MYADM_ENST00000391771.1_3'UTR|MYADM_ENST00000391770.4_3'UTR|MYADM_ENST00000336967.3_3'UTR|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker						establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		gactccatctcaaaaaaaaaaa	0.5																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.*1352->A	19.37:g.54379114_54379114dupA			B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	RNA	INS	-	NULL	ENST00000391769.2	37	NULL	CCDS12866.1	19																																																																																			AC008440.5	-	-	ENSG00000232220		0.500	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232220	Clone_based_vega_gene	protein_coding	OTTHUMT00000134337.1		0.00	10	0	-	NM_138373		54379104	-1	tier1		no_errors	ENST00000413496	ensembl	human	known	74_37	rna	22.86	27	8	INS	0.000:0.000	A
RP11-423O2.5	0	genome.wustl.edu	37	1	142803240	142803240	+	lincRNA	SNP	G	G	A	rs76010818	byFrequency	TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:142803240G>A	ENST00000423385.1	-	0	1725																											GTAACAAAGCGTCAGTCTTAT	0.348																																																	0																																												0																															1.37:g.142803240G>A				RNA	SNP	-	NULL	ENST00000423385.1	37	NULL		1																																																																																			RP11-423O2.5	-	-	ENSG00000234978		0.348	RP11-423O2.5-001	KNOWN	basic	lincRNA	ENSG00000234978	Clone_based_vega_gene	lincRNA	OTTHUMT00000193203.1	-	0.00	37	0	G			142803240	-1	tier1	rs76010818	no_errors	ENST00000423385	ensembl	human	known	74_37	rna	10.84	74	9	SNP	0.014	A
PRKRIP1	79706	genome.wustl.edu	37	7	102021027	102021027	+	Intron	SNP	T	T	C	rs369084949	byFrequency	TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr7:102021027T>C	ENST00000496391.1	+	4	875				PRKRIP1_ENST00000482465.1_Intron|RP11-163E9.2_ENST00000492837.1_RNA|PRKRIP1_ENST00000462601.1_Intron			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)						negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						ATGTTTGCCATCTAATATGTA	0.413													T|||	158	0.0315495	0.0522	0.0288	5008	,	,		17326	0.0		0.0567	False		,,,				2504	0.0123																0																																										SO:0001627	intron_variant	0			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.-436+4258T>C	7.37:g.102021027T>C			B4DGM2|Q8NDM6|Q96CF8	RNA	SNP	-	NULL	ENST00000496391.1	37	NULL	CCDS34714.1	7																																																																																			RP11-163E9.2	-	-	ENSG00000239969		0.413	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000239969	Clone_based_vega_gene	protein_coding	OTTHUMT00000349489.1	-	0.00	27	0	T	NM_024653		102021027	+1	tier1	-	no_errors	ENST00000484974	ensembl	human	known	74_37	rna	13.51	32	5	SNP	0.052	C
MACROD1	28992	genome.wustl.edu	37	11	63886079	63886079	+	Intron	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr11:63886079C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_3'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TTTTTTTTTTCCCCCCTGAAC	0.468																																																	0																																										SO:0001627	intron_variant	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+32631G>A	11.37:g.63886079C>T			Q9UH96	RNA	SNP	-	NULL	ENST00000255681.6	37	NULL	CCDS8056.1	11																																																																																			RP11-21A7A.3	-	-	ENSG00000256341		0.468	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256341	Clone_based_vega_gene	protein_coding	OTTHUMT00000396570.1	-	0.00	73	0	C	NM_014067		63886079	-1	tier1	-	no_errors	ENST00000543817	ensembl	human	known	74_37	rna	5.84	239	15	SNP	0.008	T
MIR3689A	100500846	genome.wustl.edu	37	9	137740955	137740955	+	RNA	SNP	A	A	G	rs371744304		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:137740955A>G	ENST00000578854.1	-	0	78				AL603650.1_ENST00000583957.1_RNA|MIR3689C_ENST00000581239.1_RNA|MIR3689E_ENST00000582479.1_RNA|MIR3689F_ENST00000579617.1_RNA|MIR3689B_ENST00000581772.1_RNA|MIR3689D2_ENST00000580187.1_RNA|AL603650.3_ENST00000582742.1_RNA|MIR3689D1_ENST00000579706.1_RNA|AL603650.4_ENST00000583817.1_RNA|AL603650.2_ENST00000581079.1_RNA	NR_037460.1				microRNA 3689a																		ACCTCCCAGGAAGCACAGGAT	0.602																																																	0																																												0					9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137740955A>G				RNA	SNP	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			AL603650.2	-	-	ENSG00000264877		0.602	MIR3689A-201	KNOWN	basic	miRNA	ENSG00000264877	Clone_based_ensembl_gene	miRNA		-	0.00	8	0	A	NR_037460		137740955	-1	tier1	-	no_errors	ENST00000581079	ensembl	human	novel	74_37	rna	43.75	9	7	SNP	0.061	G
MIR3689A	100500846	genome.wustl.edu	37	9	137740961	137740961	+	RNA	SNP	A	A	C	rs80120151		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:137740961A>C	ENST00000578854.1	-	0	78				AL603650.1_ENST00000583957.1_RNA|MIR3689C_ENST00000581239.1_RNA|MIR3689E_ENST00000582479.1_RNA|MIR3689F_ENST00000579617.1_RNA|MIR3689B_ENST00000581772.1_RNA|MIR3689D2_ENST00000580187.1_RNA|AL603650.3_ENST00000582742.1_RNA|MIR3689D1_ENST00000579706.1_RNA|AL603650.4_ENST00000583817.1_RNA|AL603650.2_ENST00000581079.1_RNA	NR_037460.1				microRNA 3689a																		CAGGAAGCACAGGATCACACC	0.597																																																	0																																												0					9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137740961A>C				RNA	SNP	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			AL603650.2	-	-	ENSG00000264877		0.597	MIR3689A-201	KNOWN	basic	miRNA	ENSG00000264877	Clone_based_ensembl_gene	miRNA		-	0.00	8	0	A	NR_037460		137740961	-1	tier1	-	no_errors	ENST00000581079	ensembl	human	novel	74_37	rna	46.67	7	7	SNP	0.000	C
FAM65B	9750	genome.wustl.edu	37	6	25042287	25042287	+	5'Flank	DEL	A	A	-	rs35331447	byFrequency	TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:25042287delA	ENST00000510784.2	-	0	0				RP3-425P12.5_ENST00000428903.1_RNA|RP11-367G6.3_ENST00000606385.1_lincRNA			Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B						cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTCTTTTCTTAAAAAAAAAAA	0.403													|||unknown(LONG_INSERTION)	3296	0.658147	0.879	0.5086	5008	,	,		17131	0.6161		0.5378	False		,,,				2504	0.6329																0																																										SO:0001631	upstream_gene_variant	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375		6.37:g.25042287delA	Exception_encountered		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	RNA	DEL	-	NULL	ENST00000510784.2	37	NULL		6																																																																																			RP11-367G6.3	-	-	ENSG00000272053		0.403	FAM65B-201	KNOWN	basic	protein_coding	ENSG00000272053	Clone_based_vega_gene	protein_coding			0.00	9	0	A			25042287	-1	tier1		no_errors	ENST00000606385	ensembl	human	known	74_37	rna	26.92	19	7	DEL	0.045	-
TRABD	80305	genome.wustl.edu	37	22	50637604	50637604	+	3'UTR	SNP	C	C	T	rs202137436		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr22:50637604C>T	ENST00000303434.4	+	0	1906				TRABD_ENST00000380909.4_3'UTR|TRABD_ENST00000395829.1_3'UTR|SELO_ENST00000380903.2_5'Flank|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000395827.1_3'UTR	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing											breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GGAGAGAATTCGTGTTCTTGG	0.478																																																	0													4.0	4.0	4.0					22																	50637604		799	1851	2650	SO:0001624	3_prime_UTR_variant	0			AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.*656C>T	22.37:g.50637604C>T			Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	RNA	SNP	-	NULL	ENST00000303434.4	37	NULL	CCDS14086.1	22																																																																																			RP3-402G11.26	-	-	ENSG00000273253		0.478	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000273253	Clone_based_vega_gene	protein_coding	OTTHUMT00000316987.1	-	0.00	49	0	C	NM_025204		50637604	-1	tier1	rs202137436	no_errors	ENST00000608025	ensembl	human	known	74_37	rna	28.72	67	27	SNP	0.000	T
FAM208A	23272	genome.wustl.edu	37	3	56681036	56681036	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:56681036G>A	ENST00000493960.2	-	14	1739	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	FAM208A_ENST00000355628.5_Missense_Mutation_p.P577S|FAM208A_ENST00000431842.2_Missense_Mutation_p.P181S	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	577							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GAATCATATGGAAACATAATA	0.313																																																	0													37.0	40.0	39.0					3																	56681036		2198	4296	6494	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1729C>T	3.37:g.56681036G>A	ENSP00000417509:p.Pro577Ser		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.P577S	ENST00000493960.2	37	c.1729	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336442	0.24253	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11930	2.73;2.93;2.93	5.38	2.44	0.29823	.	0.223531	0.32106	N	0.006577	T	0.08582	0.0213	N	0.22421	0.69	0.28480	N	0.915008	B;B;B	0.15141	0.012;0.001;0.002	B;B;B	0.14023	0.01;0.002;0.002	T	0.20371	-1.0277	10	0.38643	T	0.18	-0.9963	7.8837	0.29637	0.1336:0.3528:0.5136:0.0	.	577;577;181	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	S	181;577;577	ENSP00000399410:P181S;ENSP00000417509:P577S;ENSP00000347845:P577S	ENSP00000347845:P577S	P	-	1	0	C3orf63	56656076	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.203000	0.42752	0.312000	0.23038	0.655000	0.94253	CCA	FAM208A	-	NULL	ENSG00000163946		0.313	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	-	0.00	59	0	G	NM_015224		56681036	-1	tier1	-	no_errors	ENST00000355628	ensembl	human	known	74_37	missense	44.00	56	44	SNP	0.927	A
FAM227B	196951	genome.wustl.edu	37	15	49867238	49867238	+	Silent	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr15:49867238G>A	ENST00000299338.6	-	8	918	c.615C>T	c.(613-615)tcC>tcT	p.S205S	FAM227B_ENST00000561064.1_Silent_p.S205S	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	205								p.S205S(1)									ACCACCAAAAGGAGTCATGCA	0.308																																																	1	Substitution - coding silent(1)	large_intestine(1)											57.0	63.0	61.0					15																	49867238		2196	4295	6491	SO:0001819	synonymous_variant	0				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.615C>T	15.37:g.49867238G>A			Q86WS2	Silent	SNP	NULL	p.S205	ENST00000299338.6	37	c.615	CCDS32237.1	15																																																																																			FAM227B	-	NULL	ENSG00000166262		0.308	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	-	0.00	54	0	G	NM_152647		49867238	-1	tier1	-	no_errors	ENST00000299338	ensembl	human	known	74_37	silent	11.76	90	12	SNP	0.910	A
FAM71B	153745	genome.wustl.edu	37	5	156592876	156592876	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr5:156592876A>G	ENST00000302938.4	-	1	399	c.304T>C	c.(304-306)Tgg>Cgg	p.W102R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	102						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACCGGCCCCATCTGACATGC	0.547																																																	0													75.0	75.0	75.0					5																	156592876		2203	4300	6503	SO:0001583	missense	0				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.304T>C	5.37:g.156592876A>G	ENSP00000305596:p.Trp102Arg		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.W102R	ENST00000302938.4	37	c.304	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.509568	0.00984	.	.	ENSG00000170613	ENST00000302938	T	0.03413	3.94	4.57	-1.29	0.09288	.	2.473080	0.01230	N	0.008331	T	0.01124	0.0037	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41998	-0.9477	10	0.20046	T	0.44	5.0951	3.2574	0.06836	0.3762:0.0:0.3285:0.2953	.	102	Q8TC56	FA71B_HUMAN	R	102	ENSP00000305596:W102R	ENSP00000305596:W102R	W	-	1	0	FAM71B	156525454	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.322000	0.08007	-0.295000	0.08960	-1.117000	0.02048	TGG	FAM71B	-	NULL	ENSG00000170613		0.547	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	-	0.00	11	0	A	NM_130899		156592876	-1	tier1	-	no_errors	ENST00000302938	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.000	G
FCRL2	79368	genome.wustl.edu	37	1	157740416	157740416	+	Silent	SNP	T	T	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:157740416T>C	ENST00000361516.3	-	3	141	c.93A>G	c.(91-93)ggA>ggG	p.G31G	FCRL2_ENST00000368181.4_Silent_p.G31G|FCRL2_ENST00000392274.3_Silent_p.G31G|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	31	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGATGCTGTCTCCTTCGAAGA	0.453																																																	0													47.0	47.0	47.0					1																	157740416		2203	4300	6503	SO:0001819	synonymous_variant	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.93A>G	1.37:g.157740416T>C			A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G31	ENST00000361516.3	37	c.93	CCDS1168.1	1																																																																																			FCRL2	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000132704		0.453	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	-	0.00	11	0	T	NM_030764		157740416	-1	tier1	-	no_errors	ENST00000361516	ensembl	human	known	74_37	silent	26.47	25	9	SNP	0.936	C
FLT3LG	2323	genome.wustl.edu	37	19	49979702	49979702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:49979702G>A	ENST00000594009.1	+	4	300	c.221G>A	c.(220-222)tGg>tAg	p.W74*	FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_Nonsense_Mutation_p.W74*|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000597551.1_Nonsense_Mutation_p.W74*|FLT3LG_ENST00000600429.1_Nonsense_Mutation_p.W74*|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Nonsense_Mutation_p.W74*	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	74					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GGGGGCCTCTGGCGGCTGGTC	0.667											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28.0	29.0	29.0					19																	49979702		2203	4300	6503	SO:0001587	stop_gained	0			U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.221G>A	19.37:g.49979702G>A	ENSP00000469613:p.Trp74*	966	A0AVC2|B9EGH2|Q05C96	Nonsense_Mutation	SNP	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	p.W74*	ENST00000594009.1	37	c.221	CCDS12767.1	19	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551768	0.86127	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.36	4.36	0.52297	.	0.443754	0.25487	N	0.030340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1202	12.7336	0.57210	0.0:0.0:1.0:0.0	.	.	.	.	X	74	.	ENSP00000204637:W74X	W	+	2	0	FLT3LG	54671514	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	4.542000	0.60677	2.131000	0.65755	0.549000	0.68633	TGG	FLT3LG	-	pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core	ENSG00000090554		0.667	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FLT3LG	HGNC	protein_coding	OTTHUMT00000465305.1	-	0.00	31	0	G			49979702	+1	tier1	-	no_errors	ENST00000594009	ensembl	human	known	74_37	nonsense	40.00	24	16	SNP	0.951	A
FRG1	2483	genome.wustl.edu	37	4	190878599	190878599	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr4:190878599A>G	ENST00000226798.4	+	6	701	c.479A>G	c.(478-480)aAt>aGt	p.N160S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	160					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ATTAGATGCAATGAAGCAGGG	0.378																																																	0													29.0	30.0	30.0					4																	190878599		2176	4276	6452	SO:0001583	missense	0			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.479A>G	4.37:g.190878599A>G	ENSP00000226798:p.Asn160Ser		A8K775	Missense_Mutation	SNP	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	p.N160S	ENST00000226798.4	37	c.479	CCDS34121.1	4	.	.	.	.	.	.	.	.	.	.	.	5.101	0.204265	0.09704	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.41758	1.88;0.99	4.19	4.19	0.49359	Actin cross-linking (1);	0.086330	0.85682	D	0.000000	T	0.22820	0.0551	N	0.11560	0.145	0.50813	D	0.999892	B	0.18013	0.025	B	0.20384	0.029	T	0.06588	-1.0818	10	0.16896	T	0.51	-20.2599	11.5749	0.50856	1.0:0.0:0.0:0.0	.	160	Q14331	FRG1_HUMAN	S	160;32;97	ENSP00000226798:N160S;ENSP00000435943:N97S	ENSP00000226798:N160S	N	+	2	0	FRG1	191115593	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	7.069000	0.76755	1.677000	0.50941	0.373000	0.22412	AAT	FRG1	-	pfam_FRG1,superfamily_Actin_cross-linking	ENSG00000109536		0.378	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	-	0.00	85	0	A	NM_004477		190878599	+1	tier1	-	no_errors	ENST00000226798	ensembl	human	known	74_37	missense	7.85	176	15	SNP	1.000	G
FRG1B	284802	genome.wustl.edu	37	20	29614264	29614264	+	Splice_Site	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr20:29614264G>A	ENST00000278882.3	+	2	257		c.e2-1		FRG1B_ENST00000358464.4_5'UTR|FRG1B_ENST00000439954.2_5'UTR			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CCTGTAGTaagaagaaaaaga	0.299																																																	0																																										SO:0001630	splice_region_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-123-1G>A	20.37:g.29614264G>A			C4AME5	Splice_Site	SNP	-	e1-1	ENST00000278882.3	37	c.1-1		20																																																																																			FRG1B	-	-	ENSG00000149531		0.299	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	-	0.00	53	0	G	NR_003579	Intron	29614264	+1	tier1	-	no_errors	ENST00000278882	ensembl	human	known	74_37	splice_site	11.02	105	13	SNP	0.997	A
GABRA1	2554	genome.wustl.edu	37	5	161317917	161317917	+	Silent	SNP	T	T	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr5:161317917T>G	ENST00000428797.2	+	9	1072	c.717T>G	c.(715-717)gtT>gtG	p.V239V	GABRA1_ENST00000393943.4_Silent_p.V239V|GABRA1_ENST00000420560.1_Silent_p.V239V|GABRA1_ENST00000437025.2_Silent_p.V239V|GABRA1_ENST00000444819.1_Silent_p.V239V|GABRA1_ENST00000023897.6_Silent_p.V239V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	239					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AATATGTTGTTATGACCACTC	0.368																																																	0													132.0	124.0	127.0					5																	161317917		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.717T>G	5.37:g.161317917T>G			D3DQK6|Q8N629	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V239	ENST00000428797.2	37	c.717	CCDS4357.1	5																																																																																			GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000022355		0.368	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	-	0.00	21	0	T	NM_000806.5		161317917	+1	tier1	-	no_errors	ENST00000023897	ensembl	human	known	74_37	silent	43.14	29	22	SNP	0.989	G
GALNT14	79623	genome.wustl.edu	37	2	31147091	31147091	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:31147091C>T	ENST00000349752.5	-	13	1913	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	GALNT14_ENST00000324589.5_Missense_Mutation_p.R430Q|GALNT14_ENST00000356174.3_Missense_Mutation_p.R392Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R390Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.R405Q|GALNT14_ENST00000486564.1_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	425	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				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)					CTGTCTCTGTCGGATATTGCC	0.517																																																	0													240.0	222.0	228.0					2																	31147091		2203	4300	6503	SO:0001583	missense	0			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.1274G>A	2.37:g.31147091C>T	ENSP00000288988:p.Arg425Gln		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R425Q	ENST00000349752.5	37	c.1274	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784940	0.70222	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.66638	1.74;1.74;1.74;1.74;1.74;-0.22	4.84	4.84	0.62591	Ricin B-related lectin (1);Ricin B lectin (3);	0.345212	0.29300	N	0.012543	T	0.77818	0.4187	M	0.64567	1.98	0.80722	D	1	P;D;D;P;D	0.76494	0.895;0.999;0.981;0.952;0.999	B;P;P;P;P	0.62014	0.358;0.873;0.568;0.49;0.897	T	0.76708	-0.2860	10	0.34782	T	0.22	.	17.9725	0.89117	0.0:1.0:0.0:0.0	.	390;392;430;425;405	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	Q	425;430;405;392;390;392	ENSP00000288988:R425Q;ENSP00000314500:R430Q;ENSP00000385435:R405Q;ENSP00000348497:R392Q;ENSP00000415514:R390Q;ENSP00000406399:R392Q	ENSP00000314500:R430Q	R	-	2	0	GALNT14	31000595	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	4.631000	0.61304	2.234000	0.73211	0.563000	0.77884	CGA	GALNT14	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000158089		0.517	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	-	0.00	27	0	C	NM_024572		31147091	-1	tier1	-	no_errors	ENST00000349752	ensembl	human	known	74_37	missense	11.54	68	9	SNP	1.000	T
GCC2	9648	genome.wustl.edu	37	2	109086172	109086172	+	Silent	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:109086172A>G	ENST00000309863.6	+	6	1101	c.387A>G	c.(385-387)aaA>aaG	p.K129K	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	129					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTATGTGAAAGAAATTGAAA	0.323																																																	0													66.0	74.0	71.0					2																	109086172		2203	4299	6502	SO:0001819	synonymous_variant	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.387A>G	2.37:g.109086172A>G			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.K129	ENST00000309863.6	37	c.387	CCDS33268.1	2																																																																																			GCC2	-	NULL	ENSG00000135968		0.323	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0.00	46	0	A	NM_014635		109086172	+1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	silent	34.09	58	30	SNP	0.991	G
GPR98	84059	genome.wustl.edu	37	5	90144561	90144561	+	Silent	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr5:90144561C>T	ENST00000405460.2	+	79	17223	c.17127C>T	c.(17125-17127)ttC>ttT	p.F5709F	GPR98_ENST00000425867.2_Silent_p.F1370F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5709					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTAGGGGATTCAGTCACTTTG	0.393																																																	0													93.0	87.0	89.0					5																	90144561		1833	4087	5920	SO:0001819	synonymous_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17127C>T	5.37:g.90144561C>T			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.F5709	ENST00000405460.2	37	c.17127	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0.00	34	0	C	NM_032119		90144561	+1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	silent	11.76	60	8	SNP	1.000	T
GRIA3	2892	genome.wustl.edu	37	X	122318472	122318472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrX:122318472G>T	ENST00000371251.1	+	1	137	c.85G>T	c.(85-87)Gga>Tga	p.G29*	GRIA3_ENST00000371264.3_Nonsense_Mutation_p.G29*|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000264357.5_Nonsense_Mutation_p.G29*|GRIA3_ENST00000541091.1_5'Flank|GRIA3_ENST00000371256.5_Nonsense_Mutation_p.G29*|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.G29*|GRIA3_ENST00000371266.1_Nonsense_Mutation_p.G29*			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	29					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTCTCACGGAGGATTCCCCAA	0.587																																																	0													92.0	91.0	91.0					X																	122318472		2203	4300	6503	SO:0001587	stop_gained	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.85G>T	X.37:g.122318472G>T	ENSP00000360297:p.Gly29*		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Nonsense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G29*	ENST00000371251.1	37	c.85	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.784412	0.98489	.	.	ENSG00000125675	ENST00000371266;ENST00000264357;ENST00000371264;ENST00000542149;ENST00000335161;ENST00000371256;ENST00000371251	.	.	.	5.83	5.83	0.93111	.	0.057625	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4774	0.87662	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000264357:G29X	G	+	1	0	GRIA3	122146153	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.890000	0.69774	2.453000	0.82957	0.600000	0.82982	GGA	GRIA3	-	superfamily_Peripla_BP_I	ENSG00000125675		0.587	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	-	0.00	52	0	G	NM_000828		122318472	+1	tier1	-	no_errors	ENST00000264357	ensembl	human	known	74_37	nonsense	50.83	89	92	SNP	1.000	T
HNRNPR	10236	genome.wustl.edu	37	1	23636874	23636875	+	3'UTR	INS	-	-	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:23636874_23636875insT	ENST00000374612.1	-	0	2097_2098				HNRNPR_ENST00000478691.1_3'UTR|HNRNPR_ENST00000302271.6_3'UTR|HNRNPR_ENST00000374616.3_3'UTR|HNRNPR_ENST00000427764.2_3'UTR|HNRNPR_ENST00000606561.1_3'UTR|HNRNPR_ENST00000476660.1_5'UTR	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AGTTAAGCCAATTTTTTTTTTT	0.347																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.*73->A	1.37:g.23636885_23636885dupT			Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	RNA	INS	-	NULL	ENST00000374612.1	37	NULL	CCDS232.1	1																																																																																			HNRNPR	-	-	ENSG00000125944		0.347	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1		0.00	19	0	-	NM_005826		23636875	-1	tier1		no_errors	ENST00000476660	ensembl	human	known	74_37	rna	9.84	55	6	INS	0.973:0.936	T
HSP90AB1	3326	genome.wustl.edu	37	6	44221086	44221086	+	Missense_Mutation	SNP	G	G	A	rs199811663		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:44221086G>A	ENST00000371554.1	+	11	2250	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R679H|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R679H|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	679					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACTCCAACCGCATCTATCGC	0.483																																																	0													289.0	291.0	290.0					6																	44221086		2203	4300	6503	SO:0001583	missense	0			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2036G>A	6.37:g.44221086G>A	ENSP00000360609:p.Arg679His		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.R679H	ENST00000371554.1	37	c.2036	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970341	0.92919	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.12984	2.63;2.63;2.63	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000001	T	0.28400	0.0702	H	0.97540	4.025	0.80722	D	1	B;P;B	0.35628	0.108;0.513;0.177	B;B;B	0.39258	0.295;0.227;0.112	T	0.50030	-0.8875	10	0.87932	D	0	-8.3895	17.6805	0.88241	0.0:0.0:1.0:0.0	.	641;669;679	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	H	679	ENSP00000360709:R679H;ENSP00000325875:R679H;ENSP00000360609:R679H	ENSP00000325875:R679H	R	+	2	0	HSP90AB1	44329064	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.817000	0.99352	2.265000	0.75225	0.508000	0.49915	CGC	HSP90AB1	-	pfam_Hsp90_fam,pirsf_Hsp90_fam	ENSG00000096384		0.483	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	-	0.00	30	0	G	NM_007355		44221086	+1	tier1	rs199811663	no_errors	ENST00000353801	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	A
KDM6B	23135	genome.wustl.edu	37	17	7749410	7749410	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:7749410G>C	ENST00000448097.2	+	6	582	c.251G>C	c.(250-252)aGa>aCa	p.R84T	KDM6B_ENST00000254846.5_Missense_Mutation_p.R84T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	84	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCACTCCAAGACCCCTCCAT	0.637																																																	0													19.0	20.0	19.0					17																	7749410		2199	4298	6497	SO:0001583	missense	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.251G>C	17.37:g.7749410G>C	ENSP00000412513:p.Arg84Thr		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R84T	ENST00000448097.2	37	c.251		17	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748662	0.30955	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.35048	1.33;1.33	4.48	4.48	0.54585	.	0.073047	0.49916	D	0.000122	T	0.39759	0.1090	N	0.08118	0	0.32896	D	0.512558	D	0.76494	0.999	D	0.80764	0.994	T	0.56347	-0.7994	10	0.87932	D	0	-7.6521	15.0393	0.71777	0.0:0.0:1.0:0.0	.	84	O15054-1	.	T	84	ENSP00000254846:R84T;ENSP00000412513:R84T	ENSP00000254846:R84T	R	+	2	0	KDM6B	7690135	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.986000	0.49370	2.496000	0.84212	0.650000	0.86243	AGA	KDM6B	-	NULL	ENSG00000132510		0.637	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	-	0.00	10	0	G	XM_043272		7749410	+1	tier1	-	no_errors	ENST00000254846	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	C
KLHL32	114792	genome.wustl.edu	37	6	97578788	97578788	+	Silent	SNP	T	T	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:97578788T>C	ENST00000369261.4	+	9	1932	c.1569T>C	c.(1567-1569)acT>acC	p.T523T	KLHL32_ENST00000536676.1_Silent_p.T487T|KLHL32_ENST00000544166.1_Silent_p.T79T|KLHL32_ENST00000539200.1_Silent_p.T454T	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	523										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ACATAGACACTGACCAGTGGA	0.403																																																	0													156.0	145.0	149.0					6																	97578788		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1569T>C	6.37:g.97578788T>C			B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T523	ENST00000369261.4	37	c.1569	CCDS5038.1	6																																																																																			KLHL32	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000186231		0.403	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL32	HGNC	protein_coding	OTTHUMT00000041570.1	-	0.00	30	0	T	NM_052904		97578788	+1	tier1	-	no_errors	ENST00000369261	ensembl	human	known	74_37	silent	20.69	69	18	SNP	0.996	C
KLHL38	340359	genome.wustl.edu	37	8	124658211	124658211	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr8:124658211G>A	ENST00000325995.7	-	3	1537	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	505								p.A505V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTTCATGTCCGCACATTTGAC	0.512																																																	1	Substitution - Missense(1)	central_nervous_system(1)											81.0	87.0	85.0					8																	124658211		2086	4229	6315	SO:0001583	missense	0				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1514C>T	8.37:g.124658211G>A	ENSP00000321475:p.Ala505Val		A0PK12	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A505V	ENST00000325995.7	37	c.1514	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213145	0.79352	.	.	ENSG00000175946	ENST00000325995	T	0.80304	-1.36	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.225469	0.45126	D	0.000395	D	0.85186	0.5639	M	0.81942	2.565	0.48762	D	0.9997	D	0.57899	0.981	P	0.47941	0.562	D	0.86412	0.1749	10	0.44086	T	0.13	.	18.6933	0.91592	0.0:0.0:1.0:0.0	.	505	Q2WGJ6	KLH38_HUMAN	V	505	ENSP00000321475:A505V	ENSP00000321475:A505V	A	-	2	0	KLHL38	124727392	1.000000	0.71417	0.984000	0.44739	0.752000	0.42762	4.329000	0.59260	2.426000	0.82243	0.455000	0.32223	GCG	KLHL38	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.512	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	-	0.00	26	0	G			124658211	-1	tier1	-	no_errors	ENST00000325995	ensembl	human	known	74_37	missense	21.43	55	15	SNP	0.999	A
LETMD1	25875	genome.wustl.edu	37	12	51442890	51442890	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:51442890G>T	ENST00000262055.4	+	2	235	c.196G>T	c.(196-198)Gcg>Tcg	p.A66S	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000418425.2_Missense_Mutation_p.A66S|LETMD1_ENST00000547008.1_Missense_Mutation_p.A66S|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Missense_Mutation_p.A66S|LETMD1_ENST00000550929.1_Missense_Mutation_p.A10S	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	66	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CAAGACAAAAGCGATTAATGG	0.398																																																	0													129.0	114.0	119.0					12																	51442890		2203	4300	6503	SO:0001583	missense	0			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.196G>T	12.37:g.51442890G>T	ENSP00000262055:p.Ala66Ser		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	pfam_LETM1	p.A66S	ENST00000262055.4	37	c.196	CCDS8806.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.849|8.849	0.944061|0.944061	0.18281|0.18281	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551477;ENST00000550929;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008|ENST00000547256	T;T;T;T;T;T;T;T;T;T;T|T	0.44881|0.54675	1.0;1.01;0.99;0.95;0.93;0.92;0.94;0.91;0.94;1.0;0.96|0.56	4.7|4.7	2.86|2.86	0.33363|0.33363	.|.	1.152180|.	0.06206|.	N|.	0.684154|.	T|T	0.35068|0.35068	0.0919|0.0919	N|N	0.14661|0.14661	0.345|0.345	0.19300|0.19300	N|N	0.999974|0.999974	P;B;B;B;B;B|.	0.40476|.	0.718;0.062;0.004;0.275;0.062;0.004|.	B;B;B;B;B;B|.	0.33042|.	0.157;0.069;0.002;0.101;0.042;0.002|.	T|T	0.29274|0.29274	-1.0017|-1.0017	10|7	0.07325|0.87932	T|D	0.83|0	0.8453|0.8453	4.4122|4.4122	0.11438|0.11438	0.1877:0.0:0.6347:0.1776|0.1877:0.0:0.6347:0.1776	.|.	66;66;66;66;66;66|.	B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0|.	.;.;.;.;.;LTMD1_HUMAN|.	S|N	33;10;66;66;66;66;66;66;73;66;66;66|10	ENSP00000446862:A33S;ENSP00000450163:A10S;ENSP00000262055:A66S;ENSP00000448110:A66S;ENSP00000449896:A66S;ENSP00000450275:A66S;ENSP00000447166:A66S;ENSP00000369466:A66S;ENSP00000450082:A73S;ENSP00000389903:A66S;ENSP00000447419:A66S|ENSP00000446551:K10N	ENSP00000262055:A66S|ENSP00000446551:K10N	A|K	+|+	1|3	0|2	LETMD1|LETMD1	49729157|49729157	0.870000|0.870000	0.30015|0.30015	0.711000|0.711000	0.30485|0.30485	0.609000|0.609000	0.37215|0.37215	1.006000|1.006000	0.29847|0.29847	0.704000|0.704000	0.31869|0.31869	0.655000|0.655000	0.94253|0.94253	GCG|AAG	LETMD1	-	NULL	ENSG00000050426		0.398	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETMD1	HGNC	protein_coding	OTTHUMT00000404710.1	-	0.00	43	0	G	NM_015416		51442890	+1	tier1	-	no_errors	ENST00000262055	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.379	T
LINC00116	205251	genome.wustl.edu	37	2	110970017	110970017	+	lincRNA	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:110970017C>T	ENST00000414416.2	-	0	1731					NR_027063.1		Q8NCU8	YB039_HUMAN	long intergenic non-protein coding RNA 116							integral component of membrane (GO:0016021)											CCTCCGCAGTCGGTTCGCCTG	0.632																																																	0																																												0			BC031315		2q13	2014-06-02	2013-12-05	2013-12-05	ENSG00000175701	ENSG00000175701		"""Long non-coding RNAs"""	27339	other	unknown			"""non-protein coding RNA 116"""	NCRNA00116			Standard	NR_027063		Approved		uc002tfq.2	Q8NCU8	OTTHUMG00000131194		2.37:g.110970017C>T				RNA	SNP	-	NULL	ENST00000414416.2	37	NULL		2																																																																																			LINC00116	-	-	ENSG00000175701		0.632	LINC00116-001	KNOWN	basic	lincRNA	LINC00116	HGNC	lincRNA	OTTHUMT00000253918.3	-	0.00	22	0	C			110970017	-1	tier1	-	no_errors	ENST00000414416	ensembl	human	known	74_37	rna	32.50	27	13	SNP	1.000	T
LINC00242	401288	genome.wustl.edu	37	6	170190213	170190213	+	lincRNA	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:170190213G>A	ENST00000437615.1	-	0	1090				LINC00574_ENST00000420557.2_lincRNA	NR_026781.1		Q5T6M2	CF122_HUMAN	long intergenic non-protein coding RNA 242																		CAGCTGACCGGGTTGCGTTTT	0.572											OREG0017803	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													132.0	119.0	123.0					6																	170190213		692	1591	2283			0			AK056013		6q28	2012-10-12	2011-08-11	2011-08-11	ENSG00000229214	ENSG00000229214		"""Long non-coding RNAs"""	21249	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 122"", ""non-protein coding RNA 242"""	C6orf122, NCRNA00242			Standard	NR_026781		Approved	FLJ31451, dJ266L20.5	uc003qxj.1	Q5T6M2	OTTHUMG00000016064		6.37:g.170190213G>A		1883	Q0VD89|Q96N37	RNA	SNP	-	NULL	ENST00000437615.1	37	NULL		6																																																																																			LINC00242	-	-	ENSG00000229214		0.572	LINC00242-001	KNOWN	basic	lincRNA	LINC00242	HGNC	lincRNA	OTTHUMT00000043231.2	-	0.00	33	0	G	NR_026781		170190213	-1	tier1	-	no_errors	ENST00000437615	ensembl	human	known	74_37	rna	9.59	66	7	SNP	0.000	A
MIR9-2	407047	genome.wustl.edu	37	5	87968912	87968913	+	IGR	INS	-	-	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr5:87968912_87968913insA								LINC00461 (6155 upstream) : CTC-467M3.1 (3122 downstream)																							TCGGCGTCTCCAAAAAAAAAAA	0.48																																																	0																																										SO:0001628	intergenic_variant	0																															5.37:g.87968923_87968923dupA				RNA	INS	-	NULL		37	NULL		5																																																																																			LINC00461	-	-	ENSG00000245526	0	0.480					LINC00461	HGNC				0.00	12	0	-			87968913	-1	tier1		no_errors	ENST00000505030	ensembl	human	known	74_37	rna	12.00	22	3	INS	0.773:0.805	A
LINC00661	126536	genome.wustl.edu	37	19	16136522	16136523	+	RNA	INS	-	-	CA			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:16136522_16136523insCA	ENST00000549354.2	+	0	1592_1593					NR_026828.1				long intergenic non-protein coding RNA 661																		TGTGGGGGCAGCCGGGGcagca	0.579											OREG0025325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												0			AI184190, CR749400		19p13.12	2012-10-12			ENSG00000205396	ENSG00000205396		"""Long non-coding RNAs"""	27002	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_026828		Approved		uc002nbw.2		OTTHUMG00000169715		19.37:g.16136522_16136523insCA		708		RNA	INS	-	NULL	ENST00000549354.2	37	NULL		19																																																																																			LINC00661	-	-	ENSG00000205396		0.579	LINC00661-001	KNOWN	basic	lincRNA	LINC00661	HGNC	processed_transcript	OTTHUMT00000405577.4		0.00	18	0	-	NR_026828		16136523	+1	tier1		no_errors	ENST00000549354	ensembl	human	known	74_37	rna	19.64	45	11	INS	0.014:0.013	CA
RP11-435B5.5	0	genome.wustl.edu	37	1	143398949	143398949	+	lincRNA	SNP	A	A	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:143398949A>T	ENST00000428624.1	+	0	4990				RP11-435B5.4_ENST00000423249.1_lincRNA																							AAATTCTATGATGATTTAAAA	0.289																																																	0																																												0																															1.37:g.143398949A>T				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			RP11-435B5.5	-	-	ENSG00000238261		0.289	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	-	0.00	28	0	A			143398949	+1	tier1	-	no_errors	ENST00000458155	ensembl	human	known	74_37	rna	14.00	43	7	SNP	0.181	T
LOC101929232	101929232	genome.wustl.edu	37	15	29083887	29083887	+	IGR	DEL	A	A	-			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr15:29083887delA								RP11-578F21.12 (30443 upstream) : GOLGA6L7P (6219 downstream)																							TGACAAAGAGAAAAAAAATGA	0.408																																																	0																																										SO:0001628	intergenic_variant	0																															15.37:g.29083887delA				RNA	DEL	-	NULL		37	NULL		15																																																																																			RP11-578F21.12	-	-	ENSG00000261377	0	0.408					LOC101929232	Clone_based_vega_gene				0.00	91	0	A			29083887	+1	tier1		no_errors	ENST00000563144	ensembl	human	putative	74_37	rna	18.99	145	34	DEL	0.999	-
LOC730102	730102	genome.wustl.edu	37	1	178000792	178000792	+	RNA	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:178000792G>A	ENST00000476232.2	-	0	387					NR_037167.1																						ATCTGCCACAGGTCCTAAAAA	0.423																																																	0																																												0																															1.37:g.178000792G>A				RNA	SNP	-	NULL	ENST00000476232.2	37	NULL		1																																																																																			RP11-568K15.1	-	-	ENSG00000242193		0.423	RP11-568K15.1-002	KNOWN	basic	processed_transcript	LOC730102	Clone_based_vega_gene	pseudogene	OTTHUMT00000337461.2	-	0.00	37	0	G			178000792	-1	tier1	-	no_errors	ENST00000476232	ensembl	human	known	74_37	rna	26.32	70	25	SNP	0.665	A
LRFN5	145581	genome.wustl.edu	37	14	42356936	42356936	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr14:42356936G>T	ENST00000298119.4	+	3	2297	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L	LRFN5_ENST00000554171.1_Missense_Mutation_p.V370L|LRFN5_ENST00000554120.1_Missense_Mutation_p.V370L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	370	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACACAAATAGTGGATCTTCA	0.398										HNSCC(30;0.082)																																							0													78.0	80.0	80.0					14																	42356936		2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1108G>T	14.37:g.42356936G>T	ENSP00000298119:p.Val370Leu		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V370L	ENST00000298119.4	37	c.1108	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604286	0.46423	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.66460	-0.21;-0.21;-0.21	5.4	3.55	0.40652	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.125352	0.35615	N	0.003097	T	0.72326	0.3446	M	0.79926	2.475	0.35264	D	0.779815	P;B	0.36944	0.574;0.363	P;B	0.47827	0.558;0.395	T	0.77027	-0.2740	10	0.62326	D	0.03	.	5.5495	0.17083	0.1682:0.0:0.6741:0.1577	.	370;370	G3V364;Q96NI6	.;LRFN5_HUMAN	L	370	ENSP00000298119:V370L;ENSP00000451897:V370L;ENSP00000451067:V370L	ENSP00000298119:V370L	V	+	1	0	LRFN5	41426686	0.995000	0.38212	1.000000	0.80357	0.972000	0.66771	2.279000	0.43435	0.739000	0.32628	0.563000	0.77884	GTG	LRFN5	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000165379		0.398	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0.00	31	0	G	NM_152447		42356936	+1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	59.77	35	52	SNP	0.995	T
LRRK1	79705	genome.wustl.edu	37	15	101591974	101591974	+	Silent	SNP	G	G	T	rs199698040		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr15:101591974G>T	ENST00000388948.3	+	24	3857	c.3498G>T	c.(3496-3498)ccG>ccT	p.P1166P	RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000284395.5_Silent_p.P1163P|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCCCTGCCCGGTCTGCGAGA	0.592																																																	0													65.0	72.0	69.0					15																	101591974		2139	4238	6377	SO:0001819	synonymous_variant	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3498G>T	15.37:g.101591974G>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.P1166	ENST00000388948.3	37	c.3498	CCDS42086.1	15																																																																																			LRRK1	-	NULL	ENSG00000154237		0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0.00	27	0	G	NM_024652		101591974	+1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	silent	36.36	28	16	SNP	0.000	T
MAGEB4	4115	genome.wustl.edu	37	X	30261127	30261127	+	Missense_Mutation	SNP	T	T	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrX:30261127T>G	ENST00000378982.2	+	1	1071	c.875T>G	c.(874-876)gTg>gGg	p.V292G	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	292	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TTGGCCAAGGTGAATGACACC	0.532																																																	0													75.0	74.0	75.0					X																	30261127		2202	4300	6502	SO:0001583	missense	0				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.875T>G	X.37:g.30261127T>G	ENSP00000368266:p.Val292Gly		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V292G	ENST00000378982.2	37	c.875	CCDS14221.1	X	.	.	.	.	.	.	.	.	.	.	T	14.06	2.424098	0.43020	.	.	ENSG00000120289	ENST00000378982	T	0.02121	4.44	3.16	1.99	0.26369	.	0.386963	0.21499	U	0.073547	T	0.10423	0.0255	M	0.89478	3.035	0.09310	N	0.999997	D	0.67145	0.996	D	0.66497	0.944	T	0.08249	-1.0731	10	0.87932	D	0	.	4.4412	0.11575	0.0:0.1587:0.0:0.8413	.	292	O15481	MAGB4_HUMAN	G	292	ENSP00000368266:V292G	ENSP00000368266:V292G	V	+	2	0	MAGEB4	30171048	0.010000	0.17322	0.000000	0.03702	0.349000	0.29174	1.261000	0.32980	0.452000	0.26830	0.486000	0.48141	GTG	MAGEB4	-	pfscan_MAGE	ENSG00000120289		0.532	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	-	0.00	12	0	T	NM_002367		30261127	+1	tier1	-	no_errors	ENST00000378982	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.000	G
MAGEC1	9947	genome.wustl.edu	37	X	140994796	140994796	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrX:140994796C>T	ENST00000285879.4	+	4	1892	c.1606C>T	c.(1606-1608)Ctt>Ttt	p.L536F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	536										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCCAAGTCTTCCTGAGTG	0.532										HNSCC(15;0.026)																																							0													142.0	150.0	147.0					X																	140994796		2203	4300	6503	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1606C>T	X.37:g.140994796C>T	ENSP00000285879:p.Leu536Phe		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.L536F	ENST00000285879.4	37	c.1606	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	7.627	0.678144	0.14841	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	.	.	.	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.33941	D	0.643293	P	0.36647	0.563	B	0.26094	0.066	T	0.55029	-0.8204	8	0.54805	T	0.06	.	7.5678	0.27890	0.0:0.9999:0.0:1.0E-4	.	536	O60732	MAGC1_HUMAN	F	536	ENSP00000285879:L536F	ENSP00000285879:L536F	L	+	1	0	MAGEC1	140822462	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	-0.083000	0.11286	0.139000	0.18822	0.141000	0.15989	CTT	MAGEC1	-	NULL	ENSG00000155495		0.532	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0.00	16	0	C	NM_005462		140994796	+1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	53.33	35	40	SNP	0.505	T
MAP2	4133	genome.wustl.edu	37	2	210594936	210594936	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:210594936C>T	ENST00000360351.4	+	15	5805	c.5299C>T	c.(5299-5301)Cat>Tat	p.H1767Y	MAP2_ENST00000361559.4_Missense_Mutation_p.H411Y|MAP2_ENST00000392194.1_Missense_Mutation_p.H411Y|MAP2_ENST00000199940.6_Missense_Mutation_p.H499Y|MAP2_ENST00000447185.1_Missense_Mutation_p.H1763Y	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1767					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTTCAGAGAGCATGCTAAAGC	0.512																																					Pancreas(27;423 979 28787 29963)												0													81.0	74.0	76.0					2																	210594936		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5299C>T	2.37:g.210594936C>T	ENSP00000353508:p.His1767Tyr		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.H1767Y	ENST00000360351.4	37	c.5299	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799156	0.50208	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.23147	1.92;3.2;2.24;2.24;3.2	5.63	5.63	0.86233	.	0.000000	0.56097	D	0.000026	T	0.33644	0.0870	N	0.08118	0	0.34413	D	0.69655	D;P;P;D;B	0.63880	0.993;0.775;0.539;0.979;0.14	D;B;B;P;B	0.71414	0.973;0.271;0.091;0.885;0.073	T	0.51818	-0.8657	10	0.59425	D	0.04	-14.1616	19.6741	0.95924	0.0:1.0:0.0:0.0	.	1763;411;412;1767;499	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	Y	499;1767;411;411;1763	ENSP00000199940:H499Y;ENSP00000353508:H1767Y;ENSP00000355290:H411Y;ENSP00000376032:H411Y;ENSP00000392164:H1763Y	ENSP00000199940:H499Y	H	+	1	0	MAP2	210303181	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.553000	0.36255	2.648000	0.89879	0.650000	0.86243	CAT	MAP2	-	NULL	ENSG00000078018		0.512	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0.00	12	0	C	NM_001039538		210594936	+1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	T
MC4R	4160	genome.wustl.edu	37	18	58038634	58038634	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr18:58038634T>A	ENST00000299766.3	-	1	1367	c.949A>T	c.(949-951)Atc>Ttc	p.I317F		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	317			I -> T (in obesity; dbSNP:rs13447337). {ECO:0000269|PubMed:10199800}.		adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAGCAACAGATGATCTCTTTG	0.408																																																	0			GRCh37	CM052897	MC4R	M							130.0	125.0	127.0					18																	58038634		2203	4300	6503	SO:0001583	missense	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.949A>T	18.37:g.58038634T>A	ENSP00000299766:p.Ile317Phe		B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.I317F	ENST00000299766.3	37	c.949	CCDS11976.1	18	.	.	.	.	.	.	.	.	.	.	T	12.57	1.978441	0.34942	.	.	ENSG00000166603	ENST00000299766	T	0.34667	1.35	6.06	4.91	0.64330	.	0.213333	0.48767	D	0.000164	T	0.25975	0.0633	L	0.31476	0.935	0.49389	D	0.999785	B	0.15141	0.012	B	0.13407	0.009	T	0.05886	-1.0858	10	0.41790	T	0.15	.	9.7244	0.40322	0.0:0.08:0.0:0.92	.	317	P32245	MC4R_HUMAN	F	317	ENSP00000299766:I317F	ENSP00000299766:I317F	I	-	1	0	MC4R	56189614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.016000	0.57159	2.324000	0.78689	0.533000	0.62120	ATC	MC4R	-	prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_Melancort_rcpt	ENSG00000166603		0.408	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1	-	0.00	14	0	T	NM_005912		58038634	-1	tier1	-	no_errors	ENST00000299766	ensembl	human	known	74_37	missense	53.66	19	22	SNP	1.000	A
MCOLN3	55283	genome.wustl.edu	37	1	85499887	85499887	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:85499887G>T	ENST00000370589.2	-	4	496	c.444C>A	c.(442-444)aaC>aaA	p.N148K	MCOLN3_ENST00000370587.1_Missense_Mutation_p.N148K|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.N92K	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	148					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGGTACCTTTGTTCTCATAAG	0.438																																																	0													150.0	128.0	136.0					1																	85499887		2203	4300	6503	SO:0001583	missense	0			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.444C>A	1.37:g.85499887G>T	ENSP00000359621:p.Asn148Lys		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.N148K	ENST00000370589.2	37	c.444	CCDS701.1	1	.	.	.	.	.	.	.	.	.	.	G	0.770	-0.766088	0.02974	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.52983	0.64;0.64;0.64	5.86	2.33	0.28932	.	0.437791	0.27558	N	0.018829	T	0.08935	0.0221	N	0.24115	0.695	0.31683	N	0.642887	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.26849	-1.0091	10	0.06236	T	0.91	.	5.5759	0.17222	0.2943:0.2264:0.4793:0.0	.	148;92;148	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	K	148;148;92;92;148	ENSP00000359621:N148K;ENSP00000342698:N92K;ENSP00000359619:N148K	ENSP00000304843:N148K	N	-	3	2	MCOLN3	85272475	0.818000	0.29161	0.468000	0.27192	0.377000	0.30045	0.435000	0.21510	0.594000	0.29761	0.655000	0.94253	AAC	MCOLN3	-	NULL	ENSG00000055732		0.438	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	-	0.00	32	0	G	NM_018298		85499887	-1	tier1	-	no_errors	ENST00000370589	ensembl	human	known	74_37	missense	18.18	63	14	SNP	0.991	T
MLX	6945	genome.wustl.edu	37	17	40720545	40720545	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:40720545G>T	ENST00000246912.4	+	3	352	c.299G>T	c.(298-300)gGt>gTt	p.G100V	MLX_ENST00000346833.4_Intron|MLX_ENST00000435881.2_Missense_Mutation_p.G46V	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	100					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		AATAGCATCGGTTCCACCAGT	0.537																																					GBM(121;657 1601 4665 24731 34640)												0													145.0	146.0	145.0					17																	40720545		2203	4300	6503	SO:0001583	missense	0			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.299G>T	17.37:g.40720545G>T	ENSP00000246912:p.Gly100Val		A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G100V	ENST00000246912.4	37	c.299	CCDS11430.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.397103	0.96009	.	.	ENSG00000108788	ENST00000246912;ENST00000435881	T;T	0.81163	-1.46;-1.15	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.959;0.967	D	0.83835	0.0254	10	0.39692	T	0.17	-11.5074	18.9633	0.92685	0.0:0.0:1.0:0.0	.	100;46	Q9UH92;Q9UH92-3	MLX_HUMAN;.	V	100;46	ENSP00000246912:G100V;ENSP00000416627:G46V	ENSP00000246912:G100V	G	+	2	0	MLX	37974071	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.446000	0.97590	2.813000	0.96785	0.561000	0.74099	GGT	MLX	-	NULL	ENSG00000108788		0.537	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLX	HGNC	protein_coding	OTTHUMT00000450415.1	-	0.00	29	0	G	NM_170607		40720545	+1	tier1	-	no_errors	ENST00000246912	ensembl	human	known	74_37	missense	27.63	55	21	SNP	1.000	T
MRPL38	64978	genome.wustl.edu	37	17	73895597	73895597	+	Splice_Site	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:73895597C>T	ENST00000309352.3	-	7	1406	c.869G>A	c.(868-870)tGc>tAc	p.C290Y	MRPL38_ENST00000585475.1_5'Flank|RP11-552F3.10_ENST00000587267.1_RNA|TRIM65_ENST00000269383.3_5'Flank|MRPL38_ENST00000409963.3_Splice_Site_p.C106Y	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	290						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTAGATTACCAGGGTGAGGG	0.607																																																	0													82.0	64.0	70.0					17																	73895597		2203	4297	6500	SO:0001630	splice_region_variant	0			AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.869+1G>A	17.37:g.73895597C>T			B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	p.C290Y	ENST00000309352.3	37	c.869	CCDS11733.2	17	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486802	0.63962	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	T;T	0.21191	2.02;2.02	5.63	5.63	0.86233	.	0.046152	0.85682	D	0.000000	T	0.43100	0.1232	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.04216	-1.0968	9	.	.	.	-20.2979	19.6889	0.95989	0.0:1.0:0.0:0.0	.	290	Q96DV4	RM38_HUMAN	Y	290;106	ENSP00000308275:C290Y;ENSP00000387085:C106Y	.	C	-	2	0	MRPL38	71407192	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	7.434000	0.80377	2.676000	0.91093	0.511000	0.50034	TGC	MRPL38	-	superfamily_PtdEtn-bd_prot_PEBP	ENSG00000204316		0.607	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL38	HGNC	protein_coding	OTTHUMT00000328829.1	-	0.00	26	0	C	NM_032478	Missense_Mutation	73895597	-1	tier1	-	no_errors	ENST00000309352	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9050193	9050193	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:9050193T>C	ENST00000397910.4	-	5	31641	c.31438A>G	c.(31438-31440)Aag>Gag	p.K10480E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10482	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTGGTCTTCAGAGCTGTG	0.478																																																	0													410.0	404.0	406.0					19																	9050193		2116	4223	6339	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31438A>G	19.37:g.9050193T>C	ENSP00000381008:p.Lys10480Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.K10480E	ENST00000397910.4	37	c.31438	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	7.108	0.575478	0.13623	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.43	-1.09	0.09904	.	.	.	.	.	T	0.02610	0.0079	L	0.40543	1.245	.	.	.	B	0.26845	0.161	B	0.26310	0.068	T	0.40757	-0.9546	8	0.87932	D	0	.	2.9285	0.05792	0.0:0.303:0.2442:0.4528	.	10480	B5ME49	.	E	10480	ENSP00000381008:K10480E	ENSP00000381008:K10480E	K	-	1	0	MUC16	8911193	0.002000	0.14202	0.000000	0.03702	0.074000	0.17049	0.062000	0.14389	-0.367000	0.08052	0.473000	0.43528	AAG	MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	18	0	T	NM_024690		9050193	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9065422	9065423	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:9065422_9065423insA	ENST00000397910.4	-	3	22226_22227	c.22023_22024insT	c.(22021-22026)tttacafs	p.T7342fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7344	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTCTAATGTAAAGGTACTCT	0.45																																																	0																																										SO:0001589	frameshift_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22024dupT	19.37:g.9065425_9065425dupA	ENSP00000381008:p.Thr7342fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T7341fs	ENST00000397910.4	37	c.22024_22023	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.450	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0.00	26	0	-	NM_024690		9065423	-1	tier1		no_errors	ENST00000397910	ensembl	human	known	74_37	frame_shift_ins	40.58	41	28	INS	0.000:0.000	A
MUC4	4585	genome.wustl.edu	37	3	195513906	195513906	+	Silent	SNP	T	T	G	rs200485723	byFrequency	TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:195513906T>G	ENST00000463781.3	-	2	5004	c.4545A>C	c.(4543-4545)acA>acC	p.T1515T	MUC4_ENST00000475231.1_Silent_p.T1515T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.577																																																	0													2.0	2.0	2.0					3																	195513906		495	1190	1685	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4545A>C	3.37:g.195513906T>G			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.T1515	ENST00000463781.3	37	c.4545	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	-	0.00	15	0	T	NM_018406		195513906	-1	tier1	rs200485723	no_errors	ENST00000463781	ensembl	human	known	74_37	silent	25.00	18	6	SNP	0.001	G
MZT2B	80097	genome.wustl.edu	37	2	130948069	130948069	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:130948069G>T	ENST00000281871.6	+	3	702	c.347G>T	c.(346-348)gGg>gTg	p.G116V	MZT2B_ENST00000409255.1_Missense_Mutation_p.G176V	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	116						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						GCTGCCCTCGGGGGAGCATTG	0.647																																																	0													31.0	31.0	31.0					2																	130948069		2203	4300	6503	SO:0001583	missense	0			BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"""	613450	"""family with sequence similarity 128, member B"""	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.347G>T	2.37:g.130948069G>T	ENSP00000281871:p.Gly116Val		Q96CG4	Missense_Mutation	SNP	NULL	p.G116V	ENST00000281871.6	37	c.347	CCDS2157.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.76|11.76	1.735068|1.735068	0.30774|0.30774	.|.	.|.	ENSG00000152082|ENSG00000152082	ENST00000457492;ENST00000281871;ENST00000409255|ENST00000425361	T;T;T|T	0.36340|0.35605	1.34;1.34;1.26|1.3	2.61|2.61	2.61|2.61	0.31194|0.31194	.|.	0.920600|0.920600	0.09315|0.09315	N|N	0.819062|0.819062	T|T	0.47116|0.47116	0.1428|0.1428	L|L	0.54323|0.54323	1.7|1.7	0.37917|0.37917	D|D	0.931574|0.931574	P|.	0.50443|.	0.935|.	P|.	0.47346|.	0.544|.	T|T	0.54450|0.54450	-0.8292|-0.8292	10|8	0.51188|0.87932	T|D	0.08|0	-0.1203|-0.1203	11.3703|11.3703	0.49696|0.49696	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116|.	Q6NZ67|.	MZT2B_HUMAN|.	V|W	79;116;176|80	ENSP00000387805:G79V;ENSP00000281871:G116V;ENSP00000386419:G176V|ENSP00000398749:G80W	ENSP00000281871:G116V|ENSP00000398749:G80W	G|G	+|+	2|1	0|0	MZT2B|MZT2B	130664539|130664539	0.648000|0.648000	0.27313|0.27313	0.104000|0.104000	0.21259|0.21259	0.007000|0.007000	0.05969|0.05969	1.221000|1.221000	0.32503|0.32503	1.783000|1.783000	0.52377|0.52377	0.455000|0.455000	0.32223|0.32223	GGG|GGG	MZT2B	-	NULL	ENSG00000152082		0.647	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MZT2B	HGNC	protein_coding	OTTHUMT00000254518.1	-	0.00	37	0	G	NM_025029		130948069	+1	tier1	-	no_errors	ENST00000281871	ensembl	human	known	74_37	missense	11.94	59	8	SNP	0.322	T
NAF1	92345	genome.wustl.edu	37	4	164061390	164061390	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr4:164061390G>T	ENST00000274054.2	-	5	1056	c.863C>A	c.(862-864)aCa>aAa	p.T288K	NAF1_ENST00000422287.2_Missense_Mutation_p.T288K|NAF1_ENST00000509434.1_Missense_Mutation_p.T16K	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	288					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TAGTTTTTCTGTGAATATATA	0.294																																																	0													85.0	91.0	89.0					4																	164061390		2203	4293	6496	SO:0001583	missense	0				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.863C>A	4.37:g.164061390G>T	ENSP00000274054:p.Thr288Lys		D3DP28|E9PAZ2	Missense_Mutation	SNP	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel	p.T288K	ENST00000274054.2	37	c.863	CCDS3803.1	4	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258941	0.80246	.	.	ENSG00000145414	ENST00000509434;ENST00000422287;ENST00000274054	T;T	0.43688	1.01;0.94	5.68	5.68	0.88126	.	0.311519	0.34531	N	0.003889	T	0.49966	0.1588	M	0.66297	2.02	0.45867	D	0.99872	P;P	0.40000	0.644;0.698	B;B	0.42361	0.241;0.385	T	0.49495	-0.8934	10	0.46703	T	0.11	-25.2985	18.7805	0.91930	0.0:0.0:1.0:0.0	.	288;288	E9PAZ2;Q96HR8	.;NAF1_HUMAN	K	16;288;288	ENSP00000408963:T288K;ENSP00000274054:T288K	ENSP00000274054:T288K	T	-	2	0	NAF1	164280840	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.442000	0.90317	2.693000	0.91896	0.655000	0.94253	ACA	NAF1	-	pfam_H/ACA_rnp_Gar1/Naf1	ENSG00000145414		0.294	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	HGNC	protein_coding	OTTHUMT00000364684.2	-	0.00	38	0	G	NM_138386		164061390	-1	tier1	-	no_errors	ENST00000274054	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	35926358	35926358	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr13:35926358G>T	ENST00000400445.3	+	38	6611	c.6077G>T	c.(6076-6078)aGt>aTt	p.S2026I	NBEA_ENST00000540320.1_Missense_Mutation_p.S2026I|NBEA_ENST00000310336.4_Missense_Mutation_p.S2026I|NBEA_ENST00000379939.2_Missense_Mutation_p.S2023I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2026					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CATCTTATCAGTGCTGCTAAA	0.368																																																	0													80.0	77.0	78.0					13																	35926358		1922	4129	6051	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6077G>T	13.37:g.35926358G>T	ENSP00000383295:p.Ser2026Ile		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.S2026I	ENST00000400445.3	37	c.6077	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752804	0.49362	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.88	4.88	0.63580	Domain of unknown function DUF1088 (1);	0.106321	0.64402	D	0.000003	T	0.41236	0.1150	L	0.50333	1.59	0.80722	D	1	P;B	0.41313	0.745;0.27	B;B	0.39027	0.288;0.281	T	0.32640	-0.9899	10	0.35671	T	0.21	.	18.3771	0.90439	0.0:0.0:1.0:0.0	.	2026;2023	Q8NFP9;Q5T321	NBEA_HUMAN;.	I	2026;2026;2023;2026;653	ENSP00000440951:S2026I;ENSP00000383295:S2026I;ENSP00000369271:S2023I;ENSP00000308534:S2026I	ENSP00000308534:S2026I	S	+	2	0	NBEA	34824358	1.000000	0.71417	0.589000	0.28718	0.041000	0.13682	9.775000	0.98995	2.399000	0.81585	0.591000	0.81541	AGT	NBEA	-	pfam_DUF1088	ENSG00000172915		0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0.00	27	0	G	NM_015678		35926358	+1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T
NLRC5	84166	genome.wustl.edu	37	16	57074572	57074572	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr16:57074572C>A	ENST00000262510.6	+	17	3106	c.2881C>A	c.(2881-2883)Ctt>Att	p.L961I	NLRC5_ENST00000539144.1_Missense_Mutation_p.L961I|NLRC5_ENST00000308149.7_Missense_Mutation_p.L961I|NLRC5_ENST00000436936.1_Missense_Mutation_p.L961I	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	961					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGCTGCATTTCTTGACAGCCT	0.602																																																	0													119.0	98.0	105.0					16																	57074572		2198	4300	6498	SO:0001583	missense	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2881C>A	16.37:g.57074572C>A	ENSP00000262510:p.Leu961Ile		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.L961I	ENST00000262510.6	37	c.2881	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.51|16.51	3.142985|3.142985	0.57044|0.57044	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.75050|.	-0.67;-0.69;-0.9;-0.69;2.27;2.05|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	.|.	.|.	.|.	.|.	T|T	0.40423|0.40423	0.1116|0.1116	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;P;P;P|.	0.43352|.	0.418;0.804;0.804;0.565|.	B;P;B;B|.	0.48141|.	0.122;0.568;0.36;0.276|.	T|T	0.20538|0.20538	-1.0272|-1.0272	9|5	0.42905|.	T|.	0.14|.	.|.	11.1114|11.1114	0.48235|0.48235	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	961;961;961;961|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	I|Y	961;961;961;435;961;468;260|713	ENSP00000262510:L961I;ENSP00000308886:L961I;ENSP00000389739:L961I;ENSP00000441727:L961I;ENSP00000441597:L468I;ENSP00000440153:L260I|.	ENSP00000262510:L961I|.	L|S	+|+	1|2	0|0	NLRC5|NLRC5	55632073|55632073	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.628000|0.628000	0.37860|0.37860	0.847000|0.847000	0.27696|0.27696	2.318000|2.318000	0.78349|0.78349	0.557000|0.557000	0.71058|0.71058	CTT|TCT	NLRC5	-	NULL	ENSG00000140853		0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	-	0.00	14	0	C	NM_032206		57074572	+1	tier1	-	no_errors	ENST00000262510	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.010	A
OR11H1	81061	genome.wustl.edu	37	22	16449141	16449141	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr22:16449141T>A	ENST00000252835.4	-	1	664	c.664A>T	c.(664-666)Att>Ttt	p.I222F		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TTACCAAAAATAACTAATGAG	0.423																																																	0													28.0	28.0	28.0					22																	16449141		1500	3163	4663	SO:0001583	missense	0			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.664A>T	22.37:g.16449141T>A	ENSP00000252835:p.Ile222Phe		Q6IEX0|Q96R32	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I222F	ENST00000252835.4	37	c.664	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	t	12.97	2.097487	0.37048	.	.	ENSG00000130538	ENST00000252835	T	0.29397	1.57	1.88	0.454	0.16644	GPCR, rhodopsin-like superfamily (1);	0.175251	0.26816	N	0.022344	T	0.28499	0.0705	L	0.55834	1.745	0.09310	N	1	P	0.42483	0.781	P	0.47044	0.535	T	0.09228	-1.0684	10	0.54805	T	0.06	.	2.2891	0.04134	0.0:0.2077:0.3128:0.4795	.	222	Q8NG94	O11H1_HUMAN	F	222	ENSP00000252835:I222F	ENSP00000252835:I222F	I	-	1	0	OR11H1	14829141	0.000000	0.05858	0.998000	0.56505	0.960000	0.62799	-1.154000	0.03166	0.826000	0.34661	0.302000	0.19851	ATT	OR11H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000130538		0.423	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	-	0.00	23	0	T	NM_001005239		16449141	-1	tier1	-	no_errors	ENST00000252835	ensembl	human	known	74_37	missense	21.05	45	12	SNP	0.122	A
OR51L1	119682	genome.wustl.edu	37	11	5020730	5020730	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr11:5020730G>A	ENST00000321543.1	+	1	518	c.518G>A	c.(517-519)gGc>gAc	p.G173D		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACTGCCATGGCAATGCCCTC	0.453																																																	0													248.0	210.0	223.0					11																	5020730		2201	4298	6499	SO:0001583	missense	0			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.518G>A	11.37:g.5020730G>A	ENSP00000322156:p.Gly173Asp		Q6IFE5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G173D	ENST00000321543.1	37	c.518	CCDS31369.1	11	.	.	.	.	.	.	.	.	.	.	G	6.120	0.390471	0.11581	.	.	ENSG00000176798	ENST00000321543	T	0.00076	8.76	5.18	-6.38	0.01957	GPCR, rhodopsin-like superfamily (1);	2.029840	0.02565	N	0.097202	T	0.00109	0.0003	L	0.33710	1.025	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30534	-0.9975	10	0.54805	T	0.06	.	5.8837	0.18870	0.1035:0.4921:0.2479:0.1565	.	173	Q8NGJ5	O51L1_HUMAN	D	173	ENSP00000322156:G173D	ENSP00000322156:G173D	G	+	2	0	OR51L1	4977306	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-1.904000	0.01593	-1.163000	0.02793	-0.319000	0.08680	GGC	OR51L1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176798		0.453	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51L1	HGNC	protein_coding	OTTHUMT00000142812.1	-	0.00	10	0	G	NM_001004755		5020730	+1	tier1	-	no_errors	ENST00000321543	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.000	A
OR7E14P	10819	genome.wustl.edu	37	11	17073832	17073832	+	RNA	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr11:17073832G>A	ENST00000530490.1	+	0	624				AC116533.2_ENST00000583154.1_RNA					olfactory receptor, family 7, subfamily E, member 14 pseudogene																		CCTCCACCATGGTCCCCAAGA	0.532																																																	0																																												0			AF065856		11p15.1	2012-08-09			ENSG00000184669	ENSG00000184669		"""GPCR / Class A : Olfactory receptors"""	8385	pseudogene	pseudogene				OR7E151P		9787077	Standard	NR_045002		Approved	OR11-5	uc021qeh.1		OTTHUMG00000165955		11.37:g.17073832G>A				RNA	SNP	-	NULL	ENST00000530490.1	37	NULL		11																																																																																			OR7E14P	-	-	ENSG00000184669		0.532	OR7E14P-002	KNOWN	basic	processed_transcript	OR7E14P	HGNC	pseudogene	OTTHUMT00000387319.1	-	0.00	26	0	G			17073832	+1	tier1	-	no_errors	ENST00000530490	ensembl	human	known	74_37	rna	14.29	54	9	SNP	0.004	A
OR7E14P	10819	genome.wustl.edu	37	11	17073884	17073884	+	RNA	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr11:17073884G>A	ENST00000530490.1	+	0	676				AC116533.2_ENST00000583154.1_RNA					olfactory receptor, family 7, subfamily E, member 14 pseudogene																		TCTCCTATGCGGGCTGCCTGA	0.512																																																	0																																												0			AF065856		11p15.1	2012-08-09			ENSG00000184669	ENSG00000184669		"""GPCR / Class A : Olfactory receptors"""	8385	pseudogene	pseudogene				OR7E151P		9787077	Standard	NR_045002		Approved	OR11-5	uc021qeh.1		OTTHUMG00000165955		11.37:g.17073884G>A				RNA	SNP	-	NULL	ENST00000530490.1	37	NULL		11																																																																																			OR7E14P	-	-	ENSG00000184669		0.512	OR7E14P-002	KNOWN	basic	processed_transcript	OR7E14P	HGNC	pseudogene	OTTHUMT00000387319.1	-	0.00	40	0	G			17073884	+1	tier1	-	no_errors	ENST00000530490	ensembl	human	known	74_37	rna	14.06	55	9	SNP	0.003	A
PARP12	64761	genome.wustl.edu	37	7	139746766	139746766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr7:139746766G>A	ENST00000263549.3	-	5	1777	c.904C>T	c.(904-906)Caa>Taa	p.Q302*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	302	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TCCAAGAATTGCCATCGATAC	0.398																																																	0													175.0	151.0	159.0					7																	139746766		2203	4300	6503	SO:0001587	stop_gained	0			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.904C>T	7.37:g.139746766G>A	ENSP00000263549:p.Gln302*		Q9H610|Q9NP36|Q9NTI3	Nonsense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Q302*	ENST00000263549.3	37	c.904	CCDS5857.1	7	.	.	.	.	.	.	.	.	.	.	G	38	6.928552	0.97940	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8807	0.96899	0.0:0.0:1.0:0.0	.	.	.	.	X	302	.	ENSP00000263549:Q302X	Q	-	1	0	PARP12	139393235	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.533000	0.60615	2.782000	0.95742	0.549000	0.68633	CAA	PARP12	-	pfscan_WWE-dom	ENSG00000059378		0.398	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP12	HGNC	protein_coding	OTTHUMT00000348413.1	-	0.00	41	0	G	NM_022750		139746766	-1	tier1	-	no_errors	ENST00000263549	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	A
PARP3	10039	genome.wustl.edu	37	3	51976714	51976714	+	5'UTR	SNP	G	G	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:51976714G>C	ENST00000417220.2	+	0	354				RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000398755.3_Silent_p.L3L|PARP3_ENST00000431474.1_5'UTR			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3						DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCATGTCCCTGCTTTTCTTGG	0.622																																																	0													66.0	77.0	73.0					3																	51976714		1952	4114	6066	SO:0001623	5_prime_UTR_variant	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.-135G>C	3.37:g.51976714G>C			Q8NER9|Q96CG2|Q9UG81	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.L3	ENST00000417220.2	37	c.9	CCDS43097.1	3																																																																																			PARP3	-	NULL	ENSG00000041880		0.622	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2	-	0.00	15	0	G	NM_005485.4		51976714	+1	tier1	-	no_errors	ENST00000398755	ensembl	human	known	74_37	silent	34.78	15	8	SNP	0.000	C
PCDH9	5101	genome.wustl.edu	37	13	67802560	67802560	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr13:67802560C>T	ENST00000377865.2	-	1	147	c.13G>A	c.(13-15)Gat>Aat	p.D5N	PCDH9_ENST00000328454.5_Missense_Mutation_p.D5N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D5N|PCDH9_ENST00000544246.1_Missense_Mutation_p.D5N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D5N			Q9HC56	PCDH9_HUMAN	protocadherin 9	5					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGGTAAAAATCCCTCAGGTCC	0.393																																																	0													55.0	55.0	55.0					13																	67802560		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.13G>A	13.37:g.67802560C>T	ENSP00000367096:p.Asp5Asn		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D5N	ENST00000377865.2	37	c.13	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333454	0.41297	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.53206	0.68;0.68;0.63;0.63;0.65	5.82	4.97	0.65823	.	0.198590	0.52532	D	0.000080	T	0.34513	0.0900	N	0.22421	0.69	0.49051	D	0.999749	B;B;P;P	0.38395	0.349;0.139;0.629;0.495	B;B;B;B	0.35899	0.07;0.076;0.213;0.15	T	0.16041	-1.0416	10	0.38643	T	0.18	.	15.3189	0.74105	0.0:0.9317:0.0:0.0682	.	5;5;5;5	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	5	ENSP00000442186:D5N;ENSP00000367096:D5N;ENSP00000401699:D5N;ENSP00000332060:D5N;ENSP00000367092:D5N	ENSP00000332060:D5N	D	-	1	0	PCDH9	66700561	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.775000	0.68915	2.754000	0.94517	0.650000	0.86243	GAT	PCDH9	-	NULL	ENSG00000184226		0.393	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	33	0	C	NM_203487		67802560	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	29.31	41	17	SNP	1.000	T
PDK3	5165	genome.wustl.edu	37	X	24517162	24517162	+	Intron	DEL	T	T	-	rs397895289|rs11326170		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chrX:24517162delT	ENST00000379162.4	+	3	555				PDK3_ENST00000441463.2_Intron|PDK3_ENST00000493226.1_3'UTR	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3						cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAACATTGAGTTTTTTTTTTT	0.289																																																	0																																										SO:0001627	intron_variant	0			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.320+145T>-	X.37:g.24517162delT			B4DXG6	RNA	DEL	-	NULL	ENST00000379162.4	37	NULL	CCDS14212.1	X																																																																																			PDK3	-	-	ENSG00000067992		0.289	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK3	HGNC	protein_coding	OTTHUMT00000056097.1		0.00	21	0	T	NM_005391		24517162	+1	tier1		no_errors	ENST00000493226	ensembl	human	known	74_37	rna	10.26	35	4	DEL	0.012	-
LRRC7	57554	genome.wustl.edu	37	1	70385205	70385205	+	Intron	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:70385205C>T	ENST00000035383.5	+	6	563				PIN1P1_ENST00000412108.1_RNA|LRRC7_ENST00000310961.5_Intron|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGCCAGGGTCCGCCGCTCGCA	0.657																																																	0																																										SO:0001627	intron_variant	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.534-11985C>T	1.37:g.70385205C>T			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	RNA	SNP	-	NULL	ENST00000035383.5	37	NULL	CCDS645.1	1																																																																																			PIN1P1	-	-	ENSG00000229359		0.657	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN1P1	HGNC	protein_coding	OTTHUMT00000131261.1	-	0.00	29	0	C	NM_020794		70385205	+1	tier1	-	no_errors	ENST00000412108	ensembl	human	known	74_37	rna	17.57	61	13	SNP	0.979	T
PITX2	5308	genome.wustl.edu	37	4	111539588	111539588	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr4:111539588G>C	ENST00000354925.2	-	7	2352	c.647C>G	c.(646-648)tCt>tGt	p.S216C	PITX2_ENST00000394595.3_Silent_p.L147L|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000306732.3_Missense_Mutation_p.S223C|PITX2_ENST00000355080.5_Missense_Mutation_p.S170C|PITX2_ENST00000394598.2_Missense_Mutation_p.S216C	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	216					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GGACGAGATAGAGTTGGGTGG	0.542																																																	0													83.0	79.0	80.0					4																	111539588		2203	4300	6503	SO:0001583	missense	0			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.647C>G	4.37:g.111539588G>C	ENSP00000347004:p.Ser216Cys		A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom	p.S223C	ENST00000354925.2	37	c.668	CCDS3692.1	4	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081885	0.55861	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.93953	-2.97;-3.1;-3.24;-3.1;-3.32	5.25	4.41	0.53225	.	0.098954	0.64402	D	0.000001	D	0.96399	0.8825	M	0.82823	2.61	0.80722	D	1	D;P;D;D	0.89917	0.998;0.924;1.0;0.999	D;P;D;D	0.70935	0.95;0.521;0.971;0.967	D	0.96530	0.9392	10	0.56958	D	0.05	.	13.8796	0.63674	0.0732:0.0:0.9268:0.0	.	170;170;216;223	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	C	223;216;170;216;216	ENSP00000304169:S223C;ENSP00000378097:S216C;ENSP00000347192:S170C;ENSP00000347004:S216C;ENSP00000421454:S216C	ENSP00000304169:S223C	S	-	2	0	PITX2	111759037	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	9.657000	0.98554	1.446000	0.47643	0.563000	0.77884	TCT	PITX2	-	pirsf_Homeobox_Pitx/unc30	ENSG00000164093		0.542	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	-	0.00	21	0	G			111539588	-1	tier1	-	no_errors	ENST00000306732	ensembl	human	known	74_37	missense	51.92	25	27	SNP	1.000	C
PNISR	25957	genome.wustl.edu	37	6	99860264	99860264	+	Intron	SNP	T	T	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:99860264T>C	ENST00000369239.5	-	4	482				PNISR_ENST00000438806.1_Intron|PNISR_ENST00000466057.1_5'UTR	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein							cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TACAGAATAATTTTAACCACA	0.353																																																	0																																										SO:0001627	intron_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.277+162A>G	6.37:g.99860264T>C			A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	RNA	SNP	-	NULL	ENST00000369239.5	37	NULL	CCDS5043.1	6																																																																																			PNISR	-	-	ENSG00000132424		0.353	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	-	0.00	30	0	T	NM_032870		99860264	-1	tier1	-	no_errors	ENST00000466057	ensembl	human	known	74_37	rna	21.33	59	16	SNP	0.983	C
POLB	5423	genome.wustl.edu	37	8	42214742	42214742	+	Splice_Site	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr8:42214742G>T	ENST00000265421.4	+	8	647		c.e8+1		POLB_ENST00000538005.1_Splice_Site	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta						base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACAAATGCAAGTAAGATGTGT	0.289								DNA polymerases (catalytic subunits)																																									0													71.0	77.0	75.0					8																	42214742		2203	4297	6500	SO:0001630	splice_region_variant	0				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.477+1G>T	8.37:g.42214742G>T			B2RC78|Q3KP48|Q6FI34	Splice_Site	SNP	-	e8+1	ENST00000265421.4	37	c.477+1	CCDS6129.1	8	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980019	0.74474	.	.	ENSG00000070501	ENST00000265421;ENST00000520008;ENST00000518925;ENST00000538005;ENST00000521290;ENST00000518579	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5951	0.88009	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLB	42333899	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.881000	0.92415	2.748000	0.94277	0.655000	0.94253	.	POLB	-	-	ENSG00000070501		0.289	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLB	HGNC	protein_coding	OTTHUMT00000377242.1	-	0.00	47	0	G	NM_002690	Intron	42214742	+1	tier1	-	no_errors	ENST00000265421	ensembl	human	known	74_37	splice_site	5.00	76	4	SNP	1.000	T
PRICKLE1	144165	genome.wustl.edu	37	12	42860064	42860064	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:42860064C>T	ENST00000455697.1	-	6	992	c.707G>A	c.(706-708)cGc>cAc	p.R236H	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R236H|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R236H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R236H|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R236H	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	236	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCAGAAGGGGCGGCCGTCCTT	0.542																																																	0													91.0	79.0	83.0					12																	42860064		2203	4300	6503	SO:0001583	missense	0			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.707G>A	12.37:g.42860064C>T	ENSP00000401060:p.Arg236His		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R236H	ENST00000455697.1	37	c.707	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057439	0.55325	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.18	3.32	0.38043	Zinc finger, LIM-type (4);	0.098090	0.64402	N	0.000001	D	0.84302	0.5442	L	0.50847	1.595	0.58432	D	0.999999	B	0.28439	0.212	B	0.26693	0.072	T	0.81093	-0.1089	10	0.33141	T	0.24	-13.9958	12.1185	0.53878	0.0:0.8529:0.0:0.1471	.	236	Q96MT3	PRIC1_HUMAN	H	236	ENSP00000401060:R236H;ENSP00000398947:R236H;ENSP00000448359:R236H;ENSP00000345064:R236H;ENSP00000449819:R236H	ENSP00000345064:R236H	R	-	2	0	PRICKLE1	41146331	0.992000	0.36948	1.000000	0.80357	0.983000	0.72400	3.252000	0.51461	1.321000	0.45227	0.561000	0.74099	CGC	PRICKLE1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000139174		0.542	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1	-	0.00	24	0	C			42860064	-1	tier1	-	no_errors	ENST00000345127	ensembl	human	known	74_37	missense	30.00	42	18	SNP	1.000	T
PRKAB2	5565	genome.wustl.edu	37	1	146633344	146633344	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:146633344G>A	ENST00000254101.3	-	7	826	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	PRKAB2_ENST00000496858.1_5'UTR|PRKAB2_ENST00000425272.2_Missense_Mutation_p.L148F	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	230					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GGCTCAGGGAGTAAGGCTGGG	0.418																																																	0													77.0	72.0	74.0					1																	146633344		2203	4300	6503	SO:0001583	missense	0			BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.688C>T	1.37:g.146633344G>A	ENSP00000254101:p.Leu230Phe		A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set	p.L230F	ENST00000254101.3	37	c.688	CCDS925.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790181	0.90367	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.19	5.19	0.71726	5-AMP-activated protein kinase, beta subunit, interaction domain (1);	0.000000	0.85682	D	0.000000	D	0.85775	0.5775	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.88965	0.3396	9	0.87932	D	0	.	16.6026	0.84820	0.0:0.0:1.0:0.0	.	148;230	B4DH06;O43741	.;AAKB2_HUMAN	F	230;148	.	ENSP00000254101:L230F	L	-	1	0	PRKAB2	145099968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.416000	0.73332	2.865000	0.98341	0.655000	0.94253	CTC	PRKAB2	-	pfam_AMP_prot_kin_bsu_interact-dom	ENSG00000131791		0.418	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB2	HGNC	protein_coding	OTTHUMT00000039471.1	-	0.00	60	0	G	NM_005399		146633344	-1	tier1	-	no_errors	ENST00000254101	ensembl	human	known	74_37	missense	41.41	75	53	SNP	1.000	A
PRKAR2B	5577	genome.wustl.edu	37	7	106797765	106797765	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr7:106797765delT	ENST00000265717.4	+	10	1378	c.1119delT	c.(1117-1119)tgtfs	p.C373fs		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	373					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTGTCAAATGTTTAGGTAGGG	0.473																																																	0													89.0	73.0	78.0					7																	106797765		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.1119delT	7.37:g.106797765delT	ENSP00000265717:p.Cys373fs		A4D0R9	Frame_Shift_Del	DEL	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.L374fs	ENST00000265717.4	37	c.1119	CCDS5740.1	7																																																																																			PRKAR2B	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom	ENSG00000005249		0.473	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2B	HGNC	protein_coding	OTTHUMT00000268386.1		0.00	19	0	T			106797765	+1	tier1		no_errors	ENST00000265717	ensembl	human	known	74_37	frame_shift_del	18.75	52	12	DEL	1.000	-
PRR3	80742	genome.wustl.edu	37	6	30530332	30530332	+	3'UTR	SNP	C	C	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:30530332C>A	ENST00000376560.3	+	0	1086				PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						CCATTTATTTCTCTGTAGCCC	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.*60C>A	6.37:g.30530332C>A			A1A4H4|Q5RJB5|Q5STN6	RNA	SNP	-	NULL	ENST00000376560.3	37	NULL	CCDS43440.1	6																																																																																			PRR3	-	-	ENSG00000204576		0.562	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR3	HGNC	protein_coding	OTTHUMT00000076033.2	-	0.00	15	0	C	NM_025263		30530332	+1	tier1	-	no_errors	ENST00000481741	ensembl	human	known	74_37	rna	34.21	25	13	SNP	0.156	A
PTPN9	5780	genome.wustl.edu	37	15	75763081	75763081	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr15:75763081A>T	ENST00000306726.2	-	11	1811	c.1299T>A	c.(1297-1299)aaT>aaA	p.N433K		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	433	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCACGCCTAGATTGGTCACTG	0.443																																																	0													146.0	138.0	141.0					15																	75763081		2197	4294	6491	SO:0001583	missense	0				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1299T>A	15.37:g.75763081A>T	ENSP00000303554:p.Asn433Lys		Q53XR9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran	p.N433K	ENST00000306726.2	37	c.1299	CCDS10280.1	15	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582428	0.65992	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84070	-1.8	5.87	1.0	0.19881	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.042773	0.85682	D	0.000000	T	0.79598	0.4473	M	0.64567	1.98	0.52501	D	0.999956	P	0.38110	0.618	B	0.41466	0.358	T	0.71210	-0.4660	10	0.29301	T	0.29	.	9.9582	0.41680	0.522:0.0:0.478:0.0	.	433	P43378	PTN9_HUMAN	K	433;423	ENSP00000303554:N433K	ENSP00000303554:N433K	N	-	3	2	PTPN9	73550134	0.994000	0.37717	0.996000	0.52242	0.995000	0.86356	0.381000	0.20619	-0.068000	0.12953	0.533000	0.62120	AAT	PTPN9	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000169410		0.443	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN9	HGNC	protein_coding	OTTHUMT00000286474.1	-	0.00	45	0	A			75763081	-1	tier1	-	no_errors	ENST00000306726	ensembl	human	known	74_37	missense	15.66	70	13	SNP	0.995	T
RGPD1	400966	genome.wustl.edu	37	2	87201286	87201286	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:87201286A>C	ENST00000559485.1	+	10	1356	c.1340A>C	c.(1339-1341)aAa>aCa	p.K447T	RGPD1_ENST00000409776.2_Missense_Mutation_p.K447T|RGPD1_ENST00000398193.3_Missense_Mutation_p.K455T	NM_001024457.3	NP_001019628.3	P0DJD0	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1	447					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(1)|lung(1)	3						GGAATCCGAAAATGGCTAAAA	0.393																																																	0													6.0	6.0	6.0					2																	87201286		1059	2626	3685	SO:0001583	missense	0				CCDS46358.1, CCDS46358.2	2p11.2	2013-09-24			ENSG00000187627	ENSG00000187627		"""Tetratricopeptide (TTC) repeat domain containing"""	32414	protein-coding gene	gene with protein product		612704				15710750, 15815621	Standard	NM_001024457		Approved	RGP1	uc021vkh.1	P0DJD0	OTTHUMG00000153248	ENST00000559485.1:c.1340A>C	2.37:g.87201286A>C	ENSP00000453170:p.Lys447Thr		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR_1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.K455T	ENST00000559485.1	37	c.1364	CCDS46358.2	2	.	.	.	.	.	.	.	.	.	.	.	8.637	0.895108	0.17613	.	.	ENSG00000187627	ENST00000409776;ENST00000398193	T;T	0.54071	0.59;0.59	2.33	2.33	0.28932	.	.	.	.	.	T	0.47764	0.1463	L	0.60455	1.87	0.80722	D	1	P;P	0.46512	0.879;0.808	B;B	0.42827	0.399;0.224	T	0.51309	-0.8722	9	0.66056	D	0.02	-24.3902	8.2389	0.31645	1.0:0.0:0.0:0.0	.	455;447	F8VYC4;Q68DN6	.;RGPD1_HUMAN	T	447;455	ENSP00000386808:K447T;ENSP00000381253:K455T	ENSP00000381253:K455T	K	+	2	0	RGPD1	87054797	1.000000	0.71417	0.999000	0.59377	0.509000	0.34042	3.650000	0.54424	1.076000	0.40961	0.147000	0.16070	AAA	RGPD1	-	NULL	ENSG00000187627		0.393	RGPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGPD1	HGNC	protein_coding	OTTHUMT00000330684.4	-	0.00	35	0	A	NM_001024457		87201286	+1	tier1	-	no_errors	ENST00000398193	ensembl	human	known	74_37	missense	10.34	78	9	SNP	0.997	C
KIAA1731	85459	genome.wustl.edu	37	11	93454832	93454835	+	Intron	DEL	GTGT	GTGT	-	rs139561015|rs61159915|rs59894789|rs142560690		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	GTGT	GTGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr11:93454832_93454835delGTGT	ENST00000325212.6	+	19	6012				SCARNA9_ENST00000364329.1_RNA|SCARNA9_ENST00000530422.1_RNA|KIAA1731_ENST00000531700.1_Intron|SCARNA9_ENST00000362805.1_RNA|Y_RNA_ENST00000363005.1_RNA|KIAA1731_ENST00000344196.4_Intron|KIAA1731_ENST00000411936.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731							centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATATGTCTGgtgtgtgtgtgtgt	0.426																																																	0																																										SO:0001627	intron_variant	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.5850+254GTGT>-	11.37:g.93454840_93454843delGTGT			C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	RNA	DEL	-	NULL	ENST00000325212.6	37	NULL	CCDS44708.1	11																																																																																			SCARNA9	-	-	ENSG00000254911		0.426	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCARNA9	HGNC	protein_coding	OTTHUMT00000394640.1		0.00	17	0	GTGT	NM_033395		93454835	+1	tier1		no_errors	ENST00000530422	ensembl	human	known	74_37	rna	13.33	26	4	DEL	0.007:0.008:0.006:0.000	-
SEC24B	10427	genome.wustl.edu	37	4	110384393	110384393	+	Missense_Mutation	SNP	A	A	T	rs558781877		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr4:110384393A>T	ENST00000265175.5	+	2	525	c.470A>T	c.(469-471)aAt>aTt	p.N157I	SEC24B_ENST00000399100.2_Missense_Mutation_p.N157I|SEC24B_ENST00000504968.2_Missense_Mutation_p.N188I	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	157					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TCTTTTGTGAATCACTACAAT	0.463																																																	0													280.0	271.0	274.0					4																	110384393		2044	4189	6233	SO:0001583	missense	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.470A>T	4.37:g.110384393A>T	ENSP00000265175:p.Asn157Ile		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.N157I	ENST00000265175.5	37	c.470	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671543	0.67814	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.80566	-1.1;-1.39;-1.3	5.26	5.26	0.73747	.	0.588694	0.17610	N	0.168113	T	0.76227	0.3958	N	0.19112	0.55	0.37243	D	0.906197	P;D;P;D	0.54397	0.917;0.966;0.95;0.966	P;P;P;P	0.53809	0.548;0.641;0.735;0.641	T	0.80236	-0.1466	10	0.72032	D	0.01	-24.0731	9.1152	0.36753	0.9178:0.0:0.0822:0.0	.	107;188;157;157	B4DTM6;B7ZKM8;O95487-2;O95487	.;.;.;SC24B_HUMAN	I	188;157;157	ENSP00000428564:N188I;ENSP00000382051:N157I;ENSP00000265175:N157I	ENSP00000265175:N157I	N	+	2	0	SEC24B	110603842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.792000	0.38754	1.995000	0.58328	0.383000	0.25322	AAT	SEC24B	-	NULL	ENSG00000138802		0.463	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0.00	13	0	A			110384393	+1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	52.17	11	12	SNP	1.000	T
SEMA3C	10512	genome.wustl.edu	37	7	80427447	80427447	+	Silent	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr7:80427447A>G	ENST00000265361.3	-	11	1653	c.1092T>C	c.(1090-1092)atT>atC	p.I364I	SEMA3C_ENST00000536800.1_Silent_p.I216I|SEMA3C_ENST00000419255.2_Silent_p.I364I|SEMA3C_ENST00000544525.1_Silent_p.I382I	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	364	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCTGATAGGAAATCAGCTGAT	0.393																																																	0													66.0	66.0	66.0					7																	80427447		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1092T>C	7.37:g.80427447A>G			B4DRL8	Silent	SNP	pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.I382	ENST00000265361.3	37	c.1146	CCDS5596.1	7																																																																																			SEMA3C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075223		0.393	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3C	HGNC	protein_coding	OTTHUMT00000253279.1	-	0.00	35	0	A	NM_006379		80427447	-1	tier1	-	no_errors	ENST00000544525	ensembl	human	known	74_37	silent	45.10	56	46	SNP	1.000	G
SHANK1	50944	genome.wustl.edu	37	19	51189602	51189602	+	Silent	SNP	G	G	A	rs369883291		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:51189602G>A	ENST00000293441.1	-	20	2487	c.2469C>T	c.(2467-2469)gaC>gaT	p.D823D	SHANK1_ENST00000359082.3_Silent_p.D814D|SHANK1_ENST00000391813.1_Silent_p.D210D|SHANK1_ENST00000391814.1_Silent_p.D831D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	823					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCAGGATTTCGTCCAGTTTGT	0.567																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	114.0	99.0	104.0		2469	-4.0	0.9	19		104	0,8600		0,0,4300	no	coding-synonymous	SHANK1	NM_016148.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		823/2162	51189602	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2469C>T	19.37:g.51189602G>A			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.D831	ENST00000293441.1	37	c.2493	CCDS12799.1	19																																																																																			SHANK1	-	NULL	ENSG00000161681		0.567	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	-	0.00	17	0	G	NM_016148		51189602	-1	tier1	-	no_errors	ENST00000391814	ensembl	human	known	74_37	silent	31.25	22	10	SNP	0.998	A
SLC22A1	6580	genome.wustl.edu	37	6	160577066	160577066	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:160577066G>A	ENST00000366963.4	+	10	1705	c.1558G>A	c.(1558-1560)Gct>Act	p.A520T	SLC22A1_ENST00000457470.2_Intron|SLC22A1_ENST00000324965.4_Missense_Mutation_p.R482H	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	520					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)	p.A520T(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CAAGGGGGTCGCTTTGCCAGA	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											153.0	150.0	151.0					6																	160577066		2203	4300	6503	SO:0001583	missense	0			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1558G>A	6.37:g.160577066G>A	ENSP00000355930:p.Ala520Thr		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A520T	ENST00000366963.4	37	c.1558	CCDS5274.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.10|17.10	3.304046|3.304046	0.60305|0.60305	.|.	.|.	ENSG00000175003|ENSG00000175003	ENST00000366963|ENST00000324965	T|T	0.71341|0.74842	-0.56|-0.88	4.32|4.32	0.759|0.759	0.18438|0.18438	Major facilitator superfamily domain, general substrate transporter (1);|.	0.302038|.	0.31370|.	N|.	0.007762|.	T|T	0.41534|0.41534	0.1163|0.1163	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.21606|0.12013	0.058|0.005	B|B	0.21917|0.04013	0.037|0.001	T|T	0.41910|0.41910	-0.9482|-0.9482	9|8	0.27785|0.72032	T|D	0.31|0.01	.|.	5.358|5.358	0.16071|0.16071	0.4868:0.0:0.5132:0.0|0.4868:0.0:0.5132:0.0	.|.	520|482	O15245|O15245-2	S22A1_HUMAN|.	T|H	520|482	ENSP00000355930:A520T|ENSP00000318103:R482H	ENSP00000355930:A520T|ENSP00000318103:R482H	A|R	+|+	1|2	0|0	SLC22A1|SLC22A1	160497056|160497056	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.989000|0.989000	0.77384|0.77384	-0.575000|-0.575000	0.05861|0.05861	0.330000|0.330000	0.23485|0.23485	0.655000|0.655000	0.94253|0.94253	GCT|CGC	SLC22A1	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Orgcat_transp	ENSG00000175003		0.582	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A1	HGNC	protein_coding	OTTHUMT00000042938.2	-	0.00	25	0	G			160577066	+1	tier1	-	no_errors	ENST00000366963	ensembl	human	known	74_37	missense	30.88	47	21	SNP	0.001	A
SLC38A8	146167	genome.wustl.edu	37	16	84070482	84070482	+	Silent	SNP	G	G	A	rs149748570		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr16:84070482G>A	ENST00000299709.3	-	2	212	c.213C>T	c.(211-213)agC>agT	p.S71S		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	71					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGACCAGCCCGCTGATCAGGA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		13049	0.0		0.0	False		,,,				2504	0.001																0								G		1,4399	2.1+/-5.4	0,1,2199	53.0	44.0	47.0		213	-8.1	0.6	16	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous	SLC38A8	NM_001080442.1		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		71/436	84070482	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	0				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.213C>T	16.37:g.84070482G>A				Silent	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.S71	ENST00000299709.3	37	c.213	CCDS32495.1	16																																																																																			SLC38A8	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	ENSG00000166558		0.662	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	HGNC	protein_coding	OTTHUMT00000432623.1	-	0.00	38	0	G	NM_001080442		84070482	-1	tier1	rs149748570	no_errors	ENST00000299709	ensembl	human	known	74_37	silent	27.94	49	19	SNP	0.532	A
SLC44A1	23446	genome.wustl.edu	37	9	108147756	108147756	+	Silent	SNP	C	C	T	rs151307942		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:108147756C>T	ENST00000374720.3	+	15	2170	c.1923C>T	c.(1921-1923)gtC>gtT	p.V641V	SLC44A1_ENST00000374724.1_Silent_p.V641V|SLC44A1_ENST00000343170.7_Silent_p.V433V|SLC44A1_ENST00000374723.1_Silent_p.V641V	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	641					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGGGAGGCGTCGCTGATTCCA	0.463																																																	0								C		1,4395		0,1,2197	53.0	50.0	51.0		1923	-4.8	0.3	9	dbSNP_134	51	4,8590		0,4,4293	no	coding-synonymous	SLC44A1	NM_080546.3		0,5,6490	TT,TC,CC		0.0465,0.0227,0.0385		641/658	108147756	5,12985	2198	4297	6495	SO:0001819	synonymous_variant	0			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1923C>T	9.37:g.108147756C>T			A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	pfam_Choline_transptr-like	p.V641	ENST00000374720.3	37	c.1923	CCDS6763.1	9																																																																																			SLC44A1	-	NULL	ENSG00000070214		0.463	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	-	0.00	18	0	C	NM_080546		108147756	+1	tier1	rs151307942	no_errors	ENST00000374720	ensembl	human	known	74_37	silent	59.02	25	36	SNP	0.135	T
SLITRK3	22865	genome.wustl.edu	37	3	164906571	164906571	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr3:164906571C>T	ENST00000475390.1	-	2	2491	c.2048G>A	c.(2047-2049)cGa>cAa	p.R683Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R683Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	683					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGCTTCTTTCGACGCCTTCG	0.532										HNSCC(40;0.11)																																							0													76.0	63.0	67.0					3																	164906571		2203	4300	6503	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2048G>A	3.37:g.164906571C>T	ENSP00000420091:p.Arg683Gln		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R683Q	ENST00000475390.1	37	c.2048	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294625	0.81025	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.58506	0.33;0.33	5.0	4.12	0.48240	.	0.000000	0.34484	N	0.003921	T	0.57036	0.2026	N	0.14661	0.345	0.42862	D	0.994119	D	0.69078	0.997	D	0.67725	0.953	T	0.63350	-0.6657	10	0.72032	D	0.01	-11.9721	11.1762	0.48601	0.0:0.9128:0.0:0.0872	.	683	O94933	SLIK3_HUMAN	Q	683	ENSP00000420091:R683Q;ENSP00000241274:R683Q	ENSP00000241274:R683Q	R	-	2	0	SLITRK3	166389265	0.530000	0.26330	0.312000	0.25196	0.619000	0.37552	3.043000	0.49823	1.459000	0.47892	0.655000	0.94253	CGA	SLITRK3	-	NULL	ENSG00000121871		0.532	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0.00	9	0	C	NM_014926		164906571	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	missense	46.81	25	22	SNP	0.961	T
SNED1	25992	genome.wustl.edu	37	2	242003535	242003535	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:242003535C>A	ENST00000310397.8	+	19	2592	c.2592C>A	c.(2590-2592)tgC>tgA	p.C864*	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Nonsense_Mutation_p.C864*|SNED1_ENST00000401884.1_Nonsense_Mutation_p.C864*|SNED1_ENST00000342631.6_Nonsense_Mutation_p.C864*	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	864	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTACCACTGCGAGACAGGTA	0.741																																																	0													9.0	13.0	12.0					2																	242003535		1858	4020	5878	SO:0001587	stop_gained	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2592C>A	2.37:g.242003535C>A	ENSP00000308893:p.Cys864*		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.C864*	ENST00000310397.8	37	c.2592	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.872007	0.98537	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	.	.	.	4.09	-6.17	0.02091	.	0.000000	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1895	0.73032	0.0:0.1219:0.0:0.8781	.	.	.	.	X	864	.	ENSP00000308893:C864X	C	+	3	2	SNED1	241652208	0.000000	0.05858	0.937000	0.37676	0.544000	0.35116	-3.215000	0.00554	-1.343000	0.02219	-0.657000	0.03884	TGC	SNED1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000162804		0.741	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	-	0.00	16	0	C	XM_059482		242003535	+1	tier1	-	no_errors	ENST00000310397	ensembl	human	known	74_37	nonsense	32.00	34	16	SNP	0.910	A
SRSF11	9295	genome.wustl.edu	37	1	70716908	70716908	+	3'UTR	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:70716908A>G	ENST00000370950.3	+	0	1957				SRSF11_ENST00000370951.1_3'UTR|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370949.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TGGCAAGAATATCCTAAATGT	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.*420A>G	1.37:g.70716908A>G			Q5T758|Q8IWE6	RNA	SNP	-	NULL	ENST00000370950.3	37	NULL	CCDS647.1	1																																																																																			SRSF11	-	-	ENSG00000116754		0.313	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRSF11	HGNC	protein_coding	OTTHUMT00000025889.1	-	0.00	16	0	A	NM_004768		70716908	+1	tier1	-	no_errors	ENST00000461935	ensembl	human	known	74_37	rna	28.85	37	15	SNP	1.000	G
STOML2	30968	genome.wustl.edu	37	9	35101143	35101143	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr9:35101143T>C	ENST00000356493.5	-	7	775	c.713A>G	c.(712-714)aAt>aGt	p.N238S	STOML2_ENST00000452248.2_Missense_Mutation_p.N193S|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	238					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGCTGCCTGATTTATCTGTTC	0.557																																																	0													103.0	104.0	104.0					9																	35101143		2203	4300	6503	SO:0001583	missense	0			AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.713A>G	9.37:g.35101143T>C	ENSP00000348886:p.Asn238Ser		B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.N238S	ENST00000356493.5	37	c.713	CCDS6577.1	9	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131945	0.77662	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98044	-3.51;-4.68	5.26	5.26	0.73747	.	0.048533	0.85682	D	0.000000	D	0.98985	0.9654	M	0.93978	3.48	0.80722	D	1	P;D	0.76494	0.95;0.999	P;D	0.74674	0.908;0.984	D	0.99572	1.0971	10	0.72032	D	0.01	-12.1478	15.3352	0.74247	0.0:0.0:0.0:1.0	.	193;238	B4E1K7;Q9UJZ1	.;STML2_HUMAN	S	238;193	ENSP00000348886:N238S;ENSP00000395743:N193S	ENSP00000348886:N238S	N	-	2	0	STOML2	35091143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.839000	0.86812	2.211000	0.71520	0.460000	0.39030	AAT	STOML2	-	NULL	ENSG00000165283		0.557	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML2	HGNC	protein_coding	OTTHUMT00000052273.1	-	0.00	20	0	T	NM_013442		35101143	-1	tier1	-	no_errors	ENST00000356493	ensembl	human	known	74_37	missense	30.00	14	6	SNP	1.000	C
TADA1	117143	genome.wustl.edu	37	1	166825867	166825867	+	3'UTR	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:166825867A>G	ENST00000367874.4	-	0	2038				TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AAACCTATCTATACATTCTAA	0.269																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.*937T>C	1.37:g.166825867A>G			A8K4J9	RNA	SNP	-	NULL	ENST00000367874.4	37	NULL	CCDS1255.1	1																																																																																			TADA1	-	-	ENSG00000152382		0.269	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1	-	0.00	30	0	A	NM_053053		166825867	-1	tier1	-	no_errors	ENST00000467021	ensembl	human	known	74_37	rna	34.29	46	24	SNP	0.144	G
TAS2R50	259296	genome.wustl.edu	37	12	11138694	11138694	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:11138694G>A	ENST00000506868.1	-	1	817	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	256					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.R256W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GGGTCATTCCGCAGCCTCCTA	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)											78.0	80.0	79.0					12																	11138694		2203	4300	6503	SO:0001583	missense	0			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.766C>T	12.37:g.11138694G>A	ENSP00000424040:p.Arg256Trp		P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.R256W	ENST00000506868.1	37	c.766	CCDS8638.1	12	.	.	.	.	.	.	.	.	.	.	G	7.126	0.578884	0.13686	.	.	ENSG00000212126	ENST00000506868	T	0.00776	5.71	2.19	0.0662	0.14360	.	1.518050	0.04751	U	0.424515	T	0.00524	0.0017	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47573	-0.9107	10	0.87932	D	0	.	3.6885	0.08338	0.1678:0.2556:0.5766:0.0	.	256	P59544	T2R50_HUMAN	W	256	ENSP00000424040:R256W	ENSP00000424040:R256W	R	-	1	2	TAS2R50	11029961	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.561000	0.02158	-0.149000	0.11215	-0.802000	0.03209	CGG	TAS2R50	-	pfam_TAS2_rcpt	ENSG00000212126		0.428	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R50	HGNC	protein_coding	OTTHUMT00000370192.2	-	0.00	24	0	G	NM_176890		11138694	-1	tier1	-	no_errors	ENST00000506868	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.000	A
TBX4	9496	genome.wustl.edu	37	17	59560599	59560599	+	Missense_Mutation	SNP	C	C	T	rs370445781		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:59560599C>T	ENST00000240335.1	+	8	1405	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.R455W	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	454					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R454W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CATGATGCCGCGGCTGCCCAC	0.622																																																	1	Substitution - Missense(1)	skin(1)						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	79.0	80.0		1360	5.3	1.0	17		80	0,8600		0,0,4300	no	missense	TBX4	NM_018488.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	454/546	59560599	1,13005	2203	4300	6503	SO:0001583	missense	0			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1360C>T	17.37:g.59560599C>T	ENSP00000240335:p.Arg454Trp		A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R455W	ENST00000240335.1	37	c.1363	CCDS11629.1	17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463552	0.84425	2.27E-4	0.0	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.60040	0.22;0.22	5.34	5.34	0.76211	.	0.182292	0.50627	D	0.000116	T	0.74642	0.3743	M	0.66939	2.045	0.50313	D	0.999866	D;B	0.89917	1.0;0.035	D;B	0.78314	0.991;0.006	T	0.74222	-0.3735	9	.	.	.	.	18.0352	0.89298	0.0:1.0:0.0:0.0	.	455;454	A5PKU7;P57082	.;TBX4_HUMAN	W	455;454	ENSP00000377435:R455W;ENSP00000240335:R454W	.	R	+	1	2	TBX4	56915381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.584000	0.60971	2.497000	0.84241	0.655000	0.94253	CGG	TBX4	-	NULL	ENSG00000121075		0.622	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	-	0.00	14	0	C	NM_018488		59560599	+1	tier1	-	no_errors	ENST00000393853	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.998	T
TERT	7015	genome.wustl.edu	37	5	1272327	1272327	+	Silent	SNP	C	C	T	rs545260840		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr5:1272327C>T	ENST00000310581.5	-	7	2412	c.2355G>A	c.(2353-2355)ccG>ccA	p.P785P	TERT_ENST00000334602.6_Silent_p.P785P|TERT_ENST00000296820.5_Intron|TERT_ENST00000508104.2_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	785	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.		P -> L (in AA susceptibility). {ECO:0000269|PubMed:19760749}.		DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.P773P(2)|p.P785P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CATCCCTCAGCGGGCTGGTCT	0.642									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				c|||	1	0.000199681	0.0	0.0	5008	,	,		18214	0.0		0.0	False		,,,				2504	0.001																3	Substitution - coding silent(3)	kidney(2)|upper_aerodigestive_tract(1)											30.0	36.0	34.0					5																	1272327		2059	4180	6239	SO:0001819	synonymous_variant	0	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2355G>A	5.37:g.1272327C>T			O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.P785	ENST00000310581.5	37	c.2355	CCDS3861.2	5																																																																																			TERT	-	pfam_RVT,pfscan_RVT	ENSG00000164362		0.642	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2	-	0.00	19	0	C			1272327	-1	tier1	-	no_errors	ENST00000310581	ensembl	human	known	74_37	silent	28.95	54	22	SNP	0.000	T
TMEM182	130827	genome.wustl.edu	37	2	103378750	103378750	+	Missense_Mutation	SNP	T	T	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:103378750T>G	ENST00000412401.2	+	1	279	c.74T>G	c.(73-75)tTt>tGt	p.F25C	TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	25						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTGGTGGCTTTTGGATCGGAT	0.393																																																	0													171.0	164.0	166.0					2																	103378750		2203	4300	6503	SO:0001583	missense	0			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.74T>G	2.37:g.103378750T>G	ENSP00000394178:p.Phe25Cys		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	NULL	p.F25C	ENST00000412401.2	37	c.74	CCDS2064.1	2	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910504	0.72983	.	.	ENSG00000170417	ENST00000412401	T	0.68765	-0.35	6.02	4.83	0.62350	.	0.044241	0.85682	D	0.000000	T	0.78342	0.4268	M	0.68593	2.085	0.52501	D	0.999959	D	0.71674	0.998	D	0.66847	0.947	T	0.79914	-0.1602	10	0.87932	D	0	-27.8619	12.4573	0.55712	0.1256:0.0:0.0:0.8744	.	25	Q6ZP80	TM182_HUMAN	C	25	ENSP00000394178:F25C	ENSP00000394178:F25C	F	+	2	0	TMEM182	102745182	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	6.029000	0.70895	1.048000	0.40298	0.533000	0.62120	TTT	TMEM182	-	NULL	ENSG00000170417		0.393	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM182	HGNC	protein_coding	OTTHUMT00000253293.1	-	0.00	19	0	T	NM_144632		103378750	+1	tier1	-	no_errors	ENST00000412401	ensembl	human	known	74_37	missense	46.97	35	31	SNP	1.000	G
TNFSF12	8742	genome.wustl.edu	37	17	7456910	7456910	+	Intron	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr17:7456910G>T	ENST00000293825.6	+	5	636				TNFSF12_ENST00000557233.1_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000462811.1_Intron	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				acagatggaggttacacaact	0.448																																																	0																																										SO:0001627	intron_variant	0			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.373+2615G>T	17.37:g.7456910G>T			Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	NULL	p.G127V	ENST00000293825.6	37	c.380	CCDS11109.1	17																																																																																			TNFSF12	-	NULL	ENSG00000239697		0.448	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12	HGNC	protein_coding	OTTHUMT00000226951.2	-	0.00	35	0	G	NM_003809		7456910	+1	tier1	-	no_errors	ENST00000322272	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T
TRPC4	7223	genome.wustl.edu	37	13	38211399	38211399	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr13:38211399G>T	ENST00000379705.3	-	11	3432	c.2575C>A	c.(2575-2577)Caa>Aaa	p.Q859K	TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.Q686K|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.Q864K|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.Q686K|TRPC4_ENST00000358477.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	859	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGCATTTTGCTCAGCAGCA	0.423																																																	0													78.0	76.0	77.0					13																	38211399		2203	4299	6502	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2575C>A	13.37:g.38211399G>T	ENSP00000369027:p.Gln859Lys		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.Q864K	ENST00000379705.3	37	c.2590	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435454	0.25813	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679	T;T;T;T	0.64438	-0.1;-0.1;0.11;0.11	5.56	3.76	0.43208	.	1.537720	0.03977	N	0.292711	T	0.46580	0.1400	N	0.14661	0.345	0.80722	D	1	B;B;B	0.20368	0.0;0.044;0.013	B;B;B	0.18871	0.0;0.023;0.006	T	0.14952	-1.0454	10	0.05959	T	0.93	-6.2563	13.2307	0.59941	0.0:0.1504:0.7396:0.11	.	864;686;859	Q9UBN4-5;Q9UBN4-6;Q9UBN4	.;.;TRPC4_HUMAN	K	859;864;686;686	ENSP00000369027:Q859K;ENSP00000369003:Q864K;ENSP00000342580:Q686K;ENSP00000369001:Q686K	ENSP00000342580:Q686K	Q	-	1	0	TRPC4	37109399	1.000000	0.71417	0.894000	0.35097	0.992000	0.81027	3.572000	0.53849	1.290000	0.44636	0.563000	0.77884	CAA	TRPC4	-	NULL	ENSG00000133107		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	-	0.00	35	0	G	NM_003306		38211399	-1	tier1	-	no_errors	ENST00000379681	ensembl	human	known	74_37	missense	42.86	28	21	SNP	0.848	T
TRPM4	54795	genome.wustl.edu	37	19	49693513	49693513	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:49693513A>T	ENST00000252826.5	+	15	2194	c.2068A>T	c.(2068-2070)Atc>Ttc	p.I690F	TRPM4_ENST00000427978.2_Missense_Mutation_p.I690F|TRPM4_ENST00000355712.5_Missense_Mutation_p.I336F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	690					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CACTACACCCATCTGGGCCCT	0.602																																																	0													257.0	227.0	237.0					19																	49693513		2203	4300	6503	SO:0001583	missense	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2068A>T	19.37:g.49693513A>T	ENSP00000252826:p.Ile690Phe		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.I690F	ENST00000252826.5	37	c.2068	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	a	8.853	0.944998	0.18356	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	D;D;D	0.83075	-1.68;-1.68;-1.68	4.99	1.43	0.22495	.	0.220096	0.38897	N	0.001529	T	0.77651	0.4162	L	0.39397	1.21	0.18873	N	0.999981	P;P;P;B	0.49559	0.877;0.925;0.874;0.008	B;P;P;B	0.48227	0.368;0.571;0.491;0.003	T	0.68723	-0.5333	10	0.51188	T	0.08	-7.2436	8.1025	0.30865	0.5335:0.0:0.4665:0.0	.	336;516;690;690	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	F	690;690;336	ENSP00000252826:I690F;ENSP00000407492:I690F;ENSP00000347944:I336F	ENSP00000252826:I690F	I	+	1	0	TRPM4	54385325	0.038000	0.19896	0.844000	0.33320	0.105000	0.19272	0.432000	0.21461	0.296000	0.22592	0.312000	0.20444	ATC	TRPM4	-	NULL	ENSG00000130529		0.602	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	-	0.00	18	0	A	NM_017636		49693513	+1	tier1	-	no_errors	ENST00000252826	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.162	T
TTN	7273	genome.wustl.edu	37	2	179456788	179456788	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:179456788A>G	ENST00000591111.1	-	252	55144	c.54920T>C	c.(54919-54921)cTc>cCc	p.L18307P	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L11075P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L11008P|TTN_ENST00000460472.2_Missense_Mutation_p.L10883P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L19948P|TTN_ENST00000342992.6_Missense_Mutation_p.L17380P			Q8WZ42	TITIN_HUMAN	titin	18307	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TACTCGGAAGAGGTACTGGTT	0.488																																																	0													78.0	77.0	77.0					2																	179456788		1912	4137	6049	SO:0001583	missense	0			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.54920T>C	2.37:g.179456788A>G	ENSP00000465570:p.Leu18307Pro		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L17380P	ENST00000591111.1	37	c.52139		2	.	.	.	.	.	.	.	.	.	.	A	9.347	1.064619	0.20067	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66665	0.2812	M	0.81614	2.55	0.80722	D	1	P;P;P;P	0.35107	0.484;0.484;0.484;0.484	P;P;P;B	0.44623	0.455;0.455;0.455;0.354	T	0.69939	-0.5009	9	0.87932	D	0	.	16.5724	0.84622	1.0:0.0:0.0:0.0	.	10883;11008;11075;18307	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	17380;10883;11075;11008;10881	ENSP00000343764:L17380P;ENSP00000434586:L10883P;ENSP00000340554:L11075P;ENSP00000352154:L11008P	ENSP00000340554:L11075P	L	-	2	0	TTN	179165034	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.787000	0.69013	2.313000	0.78055	0.455000	0.32223	CTC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	17	0	A	NM_133378		179456788	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	20.55	58	15	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179482140	179482140	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:179482140A>G	ENST00000591111.1	-	204	42973	c.42749T>C	c.(42748-42750)aTa>aCa	p.I14250T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.I7018T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I6951T|TTN_ENST00000460472.2_Missense_Mutation_p.I6826T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I15891T|TTN_ENST00000342992.6_Missense_Mutation_p.I13323T			Q8WZ42	TITIN_HUMAN	titin	14250	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ATAGCCTAATATTGGGCTTCC	0.423																																																	0													90.0	81.0	84.0					2																	179482140		1857	4092	5949	SO:0001583	missense	0			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.42749T>C	2.37:g.179482140A>G	ENSP00000465570:p.Ile14250Thr		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I13323T	ENST00000591111.1	37	c.39968		2	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565501	0.27915	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80586	0.4651	M	0.92649	3.33	0.51767	D	0.999937	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.53988	0.666;0.666;0.666;0.739	D	0.85580	0.1239	9	0.87932	D	0	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	6826;6951;7018;14250	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13323;6826;7018;6951;6826	ENSP00000343764:I13323T;ENSP00000434586:I6826T;ENSP00000340554:I7018T;ENSP00000352154:I6951T	ENSP00000340554:I7018T	I	-	2	0	TTN	179190385	1.000000	0.71417	0.972000	0.41901	0.609000	0.37215	9.281000	0.95811	2.265000	0.75225	0.533000	0.62120	ATA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	9	0	A	NM_133378		179482140	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.997	G
UBE2D3	7323	genome.wustl.edu	37	4	103747741	103747741	+	5'UTR	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr4:103747741G>T	ENST00000453744.2	-	0	438				UBE2D3_ENST00000350435.7_5'Flank|UBE2D3_ENST00000394803.5_5'UTR|UBE2D3_ENST00000504211.1_5'Flank|UBE2D3_ENST00000394801.4_5'UTR|UBE2D3_ENST00000357194.6_Intron|UBE2D3_ENST00000502404.1_5'Flank|UBE2D3_ENST00000394804.2_5'UTR|UBE2D3_ENST00000338145.3_5'UTR|UBE2D3_ENST00000321805.7_5'UTR|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000505207.1_5'Flank|RP11-10L12.4_ENST00000501133.2_RNA|UBE2D3_ENST00000507845.1_5'Flank|UBE2D3_ENST00000349311.8_5'UTR|UBE2D3_ENST00000343106.5_5'UTR	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3						apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TGATTATCCCGGCGGCGGGGC	0.562																																																	0													78.0	61.0	66.0					4																	103747741		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.-76C>A	4.37:g.103747741G>T			A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	RNA	SNP	-	NULL	ENST00000453744.2	37	NULL	CCDS3660.1	4																																																																																			UBE2D3	-	-	ENSG00000109332		0.562	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UBE2D3	HGNC	protein_coding	OTTHUMT00000253791.2	-	0.00	9	0	G	NM_181893		103747741	-1	tier1	-	no_errors	ENST00000513098	ensembl	human	known	74_37	rna	20.00	16	4	SNP	0.905	T
UBE3D	90025	genome.wustl.edu	37	6	83732251	83732251	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:83732251T>C	ENST00000369747.3	-	7	889	c.767A>G	c.(766-768)cAg>cGg	p.Q256R		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	256	Interaction with UBE2C.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CACCAGACACTGGGCGATCAC	0.383																																																	0													65.0	64.0	64.0					6																	83732251		2203	4300	6503	SO:0001583	missense	0			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.767A>G	6.37:g.83732251T>C	ENSP00000358762:p.Gln256Arg		B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.Q256R	ENST00000369747.3	37	c.767	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	T	2.597	-0.293798	0.05568	.	.	ENSG00000118420	ENST00000369747	T	0.30182	1.54	5.72	1.61	0.23674	.	0.584513	0.19711	N	0.107801	T	0.08714	0.0216	L	0.43923	1.385	0.80722	D	1	B;B	0.12630	0.004;0.006	B;B	0.18263	0.021;0.015	T	0.17349	-1.0372	10	0.12103	T	0.63	-16.5482	8.4105	0.32640	0.0:0.2431:0.0:0.7569	.	235;256	C9JRS1;Q7Z6J8	.;UB2CB_HUMAN	R	256	ENSP00000358762:Q256R	ENSP00000358762:Q256R	Q	-	2	0	UBE2CBP	83788970	1.000000	0.71417	0.867000	0.34043	0.176000	0.22953	0.673000	0.25203	0.042000	0.15717	0.460000	0.39030	CAG	UBE3D	-	pfam_UBQ-conj_enz_E2-bd_prot	ENSG00000118420		0.383	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	-	0.00	23	0	T	NM_198920		83732251	-1	tier1	-	no_errors	ENST00000369747	ensembl	human	known	74_37	missense	29.58	50	21	SNP	0.997	C
USP24	23358	genome.wustl.edu	37	1	55595244	55595244	+	Silent	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:55595244G>A	ENST00000294383.6	-	32	3540	c.3541C>T	c.(3541-3543)Cta>Tta	p.L1181L	USP24_ENST00000407756.1_Silent_p.L1021L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1181					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTGGAGCTTAGAACCTAGGGA	0.403																																																	0													93.0	91.0	91.0					1																	55595244		1909	4128	6037	SO:0001819	synonymous_variant	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3541C>T	1.37:g.55595244G>A			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.L1021	ENST00000294383.6	37	c.3061	CCDS44154.2	1																																																																																			USP24	-	NULL	ENSG00000162402		0.403	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0.00	38	0	G			55595244	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	silent	14.81	46	8	SNP	0.996	A
VAPA	9218	genome.wustl.edu	37	18	9931846	9931846	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr18:9931846G>T	ENST00000400000.2	+	2	374	c.119G>T	c.(118-120)cGa>cTa	p.R40L	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Missense_Mutation_p.R40L	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	40	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						CTTAAATTGCGAAATCCATCG	0.393																																																	0													89.0	91.0	90.0					18																	9931846		2053	4220	6273	SO:0001583	missense	0				CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.119G>T	18.37:g.9931846G>T	ENSP00000382880:p.Arg40Leu		A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom	p.R40L	ENST00000400000.2	37	c.119	CCDS11848.2	18	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184782	0.57909	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	T;T	0.72051	-0.62;-0.62	5.69	4.81	0.61882	PapD-like (2);	0.174068	0.51477	D	0.000088	T	0.73273	0.3566	L	0.51914	1.62	0.52099	D	0.999944	P;B	0.43857	0.819;0.131	P;B	0.50617	0.646;0.052	T	0.72047	-0.4408	9	.	.	.	-5.431	14.0867	0.64962	0.0732:0.0:0.9268:0.0	.	40;40	Q9P0L0;Q9P0L0-2	VAPA_HUMAN;.	L	40	ENSP00000345656:R40L;ENSP00000382880:R40L	.	R	+	2	0	VAPA	9921846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.747000	0.38298	1.511000	0.48818	0.655000	0.94253	CGA	VAPA	-	pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom	ENSG00000101558		0.393	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPA	HGNC	protein_coding	OTTHUMT00000254490.1	-	0.00	26	0	G			9931846	+1	tier1	-	no_errors	ENST00000340541	ensembl	human	known	74_37	missense	42.86	44	33	SNP	1.000	T
VPS52	6293	genome.wustl.edu	37	6	33218515	33218515	+	3'UTR	SNP	C	C	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr6:33218515C>A	ENST00000445902.2	-	0	2493				VPS52_ENST00000436044.2_3'UTR|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000442228.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GCCTGGGAAGCAAGGGGAAAA	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.*103G>T	6.37:g.33218515C>A			A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	RNA	SNP	-	NULL	ENST00000445902.2	37	NULL	CCDS4770.2	6																																																																																			VPS52	-	-	ENSG00000223501		0.557	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	-	0.00	11	0	C	NM_022553		33218515	-1	tier1	-	no_errors	ENST00000478934	ensembl	human	known	74_37	rna	42.11	22	16	SNP	0.045	A
VPS9D1	9605	genome.wustl.edu	37	16	89777128	89777128	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr16:89777128T>C	ENST00000389386.3	-	10	1248	c.1124A>G	c.(1123-1125)gAc>gGc	p.D375G	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000561976.1_Missense_Mutation_p.D305G|VPS9D1_ENST00000565452.1_5'Flank	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	375					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GCTGTCCTTGTCTGGCAATCC	0.721																																																	0													9.0	11.0	10.0					16																	89777128		1940	4129	6069	SO:0001583	missense	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1124A>G	16.37:g.89777128T>C	ENSP00000374037:p.Asp375Gly			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.D375G	ENST00000389386.3	37	c.1124	CCDS42220.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.750|8.750	0.921162|0.921162	0.17982|0.17982	.|.	.|.	ENSG00000075399|ENSG00000075399	ENST00000389386|ENST00000261625	.|.	.|.	.|.	3.75|3.75	2.66|2.66	0.31614|0.31614	.|.	0.771673|.	0.12393|.	N|.	0.472873|.	T|T	0.19846|0.19846	0.0477|0.0477	N|N	0.16307|0.16307	0.4|0.4	0.30953|0.30953	N|N	0.724504|0.724504	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.30794|0.30794	-0.9966|-0.9966	9|6	0.28530|0.05721	T|T	0.3|0.95	-4.2379|-4.2379	6.0432|6.0432	0.19746|0.19746	0.0:0.1447:0.0:0.8553|0.0:0.1447:0.0:0.8553	.|.	375|.	Q9Y2B5|.	CP007_HUMAN|.	G|A	375|406	.|.	ENSP00000374037:D375G|ENSP00000261625:T406A	D|T	-|-	2|1	0|0	C16orf7|C16orf7	88304629|88304629	0.290000|0.290000	0.24343|0.24343	0.806000|0.806000	0.32338|0.32338	0.197000|0.197000	0.23852|0.23852	0.439000|0.439000	0.21575|0.21575	0.455000|0.455000	0.26910|0.26910	0.459000|0.459000	0.35465|0.35465	GAC|ACA	VPS9D1	-	NULL	ENSG00000075399		0.721	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0.00	42	0	T	NM_004913		89777128	-1	tier1	-	no_errors	ENST00000389386	ensembl	human	known	74_37	missense	27.85	57	22	SNP	0.965	C
VWF	7450	genome.wustl.edu	37	12	6128145	6128145	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:6128145G>A	ENST00000261405.5	-	28	4693	c.4439C>T	c.(4438-4440)cCg>cTg	p.P1480L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1480					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAAGAGCCCCGGGCCCACAGT	0.602																																																	0													22.0	30.0	27.0					12																	6128145		2191	4298	6489	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4439C>T	12.37:g.6128145G>A	ENSP00000261405:p.Pro1480Leu		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P1480L	ENST00000261405.5	37	c.4439	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	7.497	0.651941	0.14516	.	.	ENSG00000110799	ENST00000261405	T	0.77358	-1.09	4.88	3.06	0.35304	.	0.729994	0.11773	N	0.530956	T	0.80904	0.4713	M	0.89287	3.02	0.58432	D	0.999999	B	0.33345	0.409	B	0.37239	0.244	T	0.78306	-0.2255	10	0.66056	D	0.02	.	7.4245	0.27092	0.15:0.0:0.7156:0.1343	.	1480	P04275	VWF_HUMAN	L	1480	ENSP00000261405:P1480L	ENSP00000261405:P1480L	P	-	2	0	VWF	5998406	0.998000	0.40836	0.011000	0.14972	0.048000	0.14542	1.948000	0.40303	0.667000	0.31107	-0.226000	0.12346	CCG	VWF	-	pirsf_VWF	ENSG00000110799		0.602	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0.00	17	0	G	NM_000552		6128145	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	36.51	40	23	SNP	0.432	A
XIRP2	129446	genome.wustl.edu	37	2	168107984	168107984	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr2:168107984A>C	ENST00000409195.1	+	9	10171	c.10082A>C	c.(10081-10083)aAc>aCc	p.N3361T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N3361T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N3139T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3186					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGAAACAAACCATAACATA	0.363																																																	0													121.0	116.0	117.0					2																	168107984		1850	4099	5949	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10082A>C	2.37:g.168107984A>C	ENSP00000386840:p.Asn3361Thr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.N3361T	ENST00000409195.1	37	c.10082	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042653	0.35989	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02552	4.25;4.25;4.25	6.07	2.37	0.29283	.	0.404619	0.31531	N	0.007493	T	0.05044	0.0135	M	0.64997	1.995	0.09310	N	1	P;P;B	0.45902	0.792;0.868;0.023	B;P;B	0.46076	0.307;0.503;0.027	T	0.25984	-1.0116	10	0.52906	T	0.07	-4.8398	6.6141	0.22766	0.732:0.1304:0.1375:0.0	.	3186;3186;3139	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3361;3361;3139;775	ENSP00000386840:N3361T;ENSP00000295237:N3361T;ENSP00000387255:N3139T	ENSP00000295237:N3361T	N	+	2	0	XIRP2	167816230	0.003000	0.15002	0.618000	0.29105	0.742000	0.42306	0.250000	0.18235	0.171000	0.19730	0.477000	0.44152	AAC	XIRP2	-	NULL	ENSG00000163092		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0.00	11	0	A	NM_152381		168107984	+1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.010	C
ZBTB46	140685	genome.wustl.edu	37	20	62421604	62421604	+	Silent	SNP	C	C	T	rs374159825		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr20:62421604C>T	ENST00000245663.4	-	2	657	c.507G>A	c.(505-507)ccG>ccA	p.P169P	ZBTB46_ENST00000302995.2_Silent_p.P169P|ZBTB46_ENST00000395104.1_Silent_p.P169P|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	169					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTGCCAGCCACGGGGAGATGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		19008	0.0		0.0	False		,,,				2504	0.001																0								C		0,4406		0,0,2203	24.0	22.0	23.0		507	-11.3	0.8	20		23	1,8599		0,1,4299	no	coding-synonymous	ZBTB46	NM_025224.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		169/590	62421604	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.507G>A	20.37:g.62421604C>T			E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P169	ENST00000245663.4	37	c.507	CCDS13538.1	20																																																																																			ZBTB46	-	NULL	ENSG00000130584		0.637	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	HGNC	protein_coding	OTTHUMT00000080232.2	-	0.00	8	0	C	NM_025224		62421604	-1	tier1	-	no_errors	ENST00000245663	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.137	T
ZFC3H1	196441	genome.wustl.edu	37	12	72024395	72024395	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:72024395T>C	ENST00000378743.3	-	18	4067	c.3709A>G	c.(3709-3711)Att>Gtt	p.I1237V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1237					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAGCAGTAATTTCTTCATTA	0.318																																																	0													75.0	70.0	72.0					12																	72024395		1804	4071	5875	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3709A>G	12.37:g.72024395T>C	ENSP00000368017:p.Ile1237Val		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.I1237V	ENST00000378743.3	37	c.3709	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	T	8.427	0.847772	0.17034	.	.	ENSG00000133858	ENST00000378743	T	0.32753	1.44	4.97	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.29908	0.895	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.05616	-1.0874	10	0.15952	T	0.53	.	9.725	0.40326	0.0:0.1474:0.0:0.8526	.	1237	O60293	ZC3H1_HUMAN	V	1237	ENSP00000368017:I1237V	ENSP00000368017:I1237V	I	-	1	0	ZFC3H1	70310662	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	1.309000	0.33539	0.847000	0.35167	-0.410000	0.06199	ATT	ZFC3H1	-	NULL	ENSG00000133858		0.318	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	-	0.00	32	0	T	NM_144982		72024395	-1	tier1	-	no_errors	ENST00000378743	ensembl	human	known	74_37	missense	31.40	59	27	SNP	1.000	C
ZMYND12	84217	genome.wustl.edu	37	1	42921632	42921632	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr1:42921632G>A	ENST00000372565.3	-	1	306	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	PPCS_ENST00000372560.3_5'Flank|PPCS_ENST00000372562.1_5'Flank|PPCS_ENST00000372556.3_5'Flank|PPCS_ENST00000372561.3_5'Flank|ZMYND12_ENST00000433602.2_5'UTR|PPCS_ENST00000455780.1_5'Flank	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	13						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGAGTCTGCGCCCCTTGGGG	0.622																																																	0													54.0	48.0	50.0					1																	42921632		2203	4300	6503	SO:0001583	missense	0			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.37C>T	1.37:g.42921632G>A	ENSP00000361646:p.Arg13Cys		Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.R13C	ENST00000372565.3	37	c.37	CCDS467.1	1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713009	0.68730	.	.	ENSG00000066185	ENST00000372565	T	0.46819	0.86	5.04	5.04	0.67666	.	0.207898	0.41823	D	0.000808	T	0.60753	0.2293	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.60010	-0.7346	10	0.48119	T	0.1	-12.7733	11.572	0.50839	0.0:0.18:0.82:0.0	.	13	Q9H0C1	ZMY12_HUMAN	C	13	ENSP00000361646:R13C	ENSP00000361646:R13C	R	-	1	0	ZMYND12	42694219	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	3.432000	0.52824	2.612000	0.88384	0.563000	0.77884	CGC	ZMYND12	-	NULL	ENSG00000066185		0.622	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	HGNC	protein_coding	OTTHUMT00000019170.1	-	0.00	12	0	G	NM_032257		42921632	-1	tier1	-	no_errors	ENST00000372565	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	A
ZNF160	90338	genome.wustl.edu	37	19	53571447	53571448	+	Frame_Shift_Ins	INS	-	-	A	rs545488820		TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:53571447_53571448insA	ENST00000429604.1	-	7	2754_2755	c.2339_2340insT	c.(2338-2340)atgfs	p.M780fs	ZNF160_ENST00000599056.1_Frame_Shift_Ins_p.M780fs|ZNF160_ENST00000418871.1_Frame_Shift_Ins_p.M780fs|ZNF160_ENST00000601421.1_Frame_Shift_Ins_p.M744fs	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	780					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGTGGATTGCCATATGGGTAGT	0.45																																																	0																																										SO:0001589	frameshift_variant	0			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.2340dupT	19.37:g.53571448_53571448dupA	ENSP00000406201:p.Met780fs		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M780fs	ENST00000429604.1	37	c.2340_2339	CCDS12859.1	19																																																																																			ZNF160	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170949		0.450	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2		0.00	39	0	-	NM_033288		53571448	-1	tier1		no_errors	ENST00000418871	ensembl	human	known	74_37	frame_shift_ins	20.73	65	17	INS	0.000:0.001	A
ZNF268	10795	genome.wustl.edu	37	12	133780251	133780251	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr12:133780251G>A	ENST00000536435.2	+	6	2309	c.1979G>A	c.(1978-1980)gGa>gAa	p.G660E	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.G499E|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.G660E	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	660					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTACATAAAGGAGTGCACACT	0.403																																																	0													87.0	78.0	81.0					12																	133780251		692	1591	2283	SO:0001583	missense	0			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1979G>A	12.37:g.133780251G>A	ENSP00000444412:p.Gly660Glu		Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G660E	ENST00000536435.2	37	c.1979	CCDS45012.1	12	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687187	0.29962	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.18174	3.24;2.23	4.28	2.39	0.29439	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	N	0.02674	-0.535	0.23747	N	0.996958	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.40831	-0.9542	8	.	.	.	.	8.1881	0.31352	0.2727:0.0:0.7273:0.0	.	660;499	Q14587;Q14587-2	ZN268_HUMAN;.	E	660;660;499;499	ENSP00000228289:G660E;ENSP00000445713:G499E	.	G	+	2	0	ZNF268	.	0.000000	0.05858	0.218000	0.23776	0.066000	0.16364	0.317000	0.19487	1.005000	0.39183	-0.140000	0.14226	GGA	ZNF268	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000090612		0.403	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF268	HGNC	protein_coding	OTTHUMT00000397191.2	-	0.00	19	0	G	NM_152943		133780251	+1	tier1	-	no_errors	ENST00000228289	ensembl	human	known	74_37	missense	17.65	42	9	SNP	0.775	A
ZNF460	10794	genome.wustl.edu	37	19	57802649	57802649	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:57802649A>T	ENST00000360338.3	+	3	1062	c.740A>T	c.(739-741)aAt>aTt	p.N247I	ZNF460_ENST00000537645.1_Missense_Mutation_p.N206I	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGGACTCACAATGGAGATAAG	0.537																																																	0													87.0	76.0	80.0					19																	57802649		2203	4300	6503	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.740A>T	19.37:g.57802649A>T	ENSP00000353491:p.Asn247Ile		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N247I	ENST00000360338.3	37	c.740	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	A	4.866	0.160898	0.09287	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.17370	2.28;2.28	1.49	-2.93	0.05598	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.16656	0.425	0.23010	N	0.998438	B	0.15141	0.012	B	0.19666	0.026	T	0.34900	-0.9810	9	0.87932	D	0	.	2.0036	0.03472	0.2033:0.4793:0.1805:0.1369	.	247	Q14592	ZN460_HUMAN	I	206;247	ENSP00000446167:N206I;ENSP00000353491:N247I	ENSP00000353491:N247I	N	+	2	0	ZNF460	62494461	0.009000	0.17119	0.050000	0.19076	0.017000	0.09413	0.216000	0.17585	-0.790000	0.04492	-1.017000	0.02453	AAT	ZNF460	-	pfscan_Znf_C2H2	ENSG00000197714		0.537	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1	-	0.00	18	0	A	NM_006635		57802649	+1	tier1	-	no_errors	ENST00000360338	ensembl	human	known	74_37	missense	47.37	20	18	SNP	0.952	T
ZNF587	84914	genome.wustl.edu	37	19	58371221	58371221	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr19:58371221A>G	ENST00000339656.5	+	3	1623	c.1441A>G	c.(1441-1443)Ata>Gta	p.I481V	ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.I438V|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.I480V|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CAGCGTGACTATACATCAGAG	0.428																																					Pancreas(59;641 1233 1885 20055 50741)												0													149.0	145.0	147.0					19																	58371221		2203	4300	6503	SO:0001583	missense	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1441A>G	19.37:g.58371221A>G	ENSP00000345479:p.Ile481Val		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I481V	ENST00000339656.5	37	c.1441	CCDS12964.1	19	.	.	.	.	.	.	.	.	.	.	.	2.562	-0.301580	0.05495	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.07327	3.2;3.2;3.2	1.44	0.146	0.14833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03095	0.0091	N	0.04090	-0.28	0.22066	N	0.999382	B;B	0.21071	0.041;0.051	B;B	0.20955	0.025;0.032	T	0.43798	-0.9369	8	0.25106	T	0.35	.	2.7905	0.05387	0.5547:0.2687:0.1766:0.0	.	480;481	G3V0H5;Q96SQ5	.;ZN587_HUMAN	V	438;480;481;481;438	ENSP00000393865:I480V;ENSP00000345479:I481V;ENSP00000406999:I438V	ENSP00000345479:I481V	I	+	1	0	ZNF587	63063033	0.000000	0.05858	0.022000	0.16811	0.349000	0.29174	-0.096000	0.11059	-0.234000	0.09782	0.164000	0.16699	ATA	ZNF587	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198466		0.428	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2	-	0.00	28	0	A	NM_032828		58371221	+1	tier1	-	no_errors	ENST00000339656	ensembl	human	known	74_37	missense	42.35	49	36	SNP	0.000	G
ZNF70	7621	genome.wustl.edu	37	22	24086011	24086011	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr22:24086011C>A	ENST00000341976.3	-	2	1777	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CAGAATGAATCTTCTGATGGC	0.527																																																	0													105.0	110.0	108.0					22																	24086011		2203	4300	6503	SO:0001583	missense	0			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1317G>T	22.37:g.24086011C>A	ENSP00000339314:p.Lys439Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K439N	ENST00000341976.3	37	c.1317	CCDS13812.1	22	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468323	0.43839	.	.	ENSG00000187792	ENST00000341976	T	0.12147	2.71	3.55	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26593	0.0650	M	0.64260	1.97	0.24730	N	0.993096	D	0.69078	0.997	P	0.61397	0.888	T	0.13899	-1.0492	9	0.72032	D	0.01	.	9.351	0.38138	0.0:0.629:0.0:0.371	.	439	Q9UC06	ZNF70_HUMAN	N	439	ENSP00000339314:K439N	ENSP00000339314:K439N	K	-	3	2	ZNF70	22416011	0.000000	0.05858	0.942000	0.38095	0.707000	0.40811	-0.751000	0.04803	-0.269000	0.09298	0.555000	0.69702	AAG	ZNF70	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187792		0.527	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF70	HGNC	protein_coding	OTTHUMT00000319881.1	-	0.00	20	0	C	NM_021916		24086011	-1	tier1	-	no_errors	ENST00000341976	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.902	A
ZWILCH	55055	genome.wustl.edu	37	15	66821208	66821208	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-AA7I-01A-11D-A403-09	TCGA-VR-AA7I-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	442b99f1-cb13-4dfa-a95a-43b5dac87be9	2571d3c1-c102-40f2-9dbc-875797c2268e	g.chr15:66821208G>A	ENST00000307897.5	+	11	1368	c.988G>A	c.(988-990)Gct>Act	p.A330T	ZWILCH_ENST00000565627.1_Missense_Mutation_p.A216T|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A216T|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A216T	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	330					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GCATGACACTGCTGCAGTCGA	0.408																																																	0													113.0	102.0	106.0					15																	66821208		2201	4299	6500	SO:0001583	missense	0			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.988G>A	15.37:g.66821208G>A	ENSP00000311429:p.Ala330Thr		B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	pfam_RZZ-complex_zwilch	p.A330T	ENST00000307897.5	37	c.988	CCDS10219.1	15	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903489	0.52333	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.52295	0.67;0.67;0.67	5.4	3.52	0.40303	.	0.135775	0.51477	N	0.000094	T	0.47507	0.1449	M	0.72894	2.215	0.40763	D	0.983024	B	0.27316	0.175	B	0.31812	0.136	T	0.44483	-0.9325	10	0.40728	T	0.16	-11.352	10.2248	0.43218	0.2148:0.0:0.7852:0.0	.	330	Q9H900	ZWILC_HUMAN	T	330;216;216	ENSP00000311429:A330T;ENSP00000402217:A216T;ENSP00000437749:A216T	ENSP00000311429:A330T	A	+	1	0	ZWILCH	64608262	0.963000	0.33076	0.028000	0.17463	0.230000	0.25150	2.745000	0.47459	0.761000	0.33130	0.462000	0.41574	GCT	ZWILCH	-	pfam_RZZ-complex_zwilch	ENSG00000174442		0.408	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4	-	0.00	8	0	G	NM_017975		66821208	+1	tier1	-	no_errors	ENST00000307897	ensembl	human	known	74_37	missense	20.51	30	8	SNP	0.686	A
