#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCB10	23456	genome.wustl.edu	37	1	229678057	229678057	+	Missense_Mutation	SNP	A	A	C	rs200635064		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:229678057A>C	ENST00000344517.4	-	4	1025	c.983T>G	c.(982-984)aTt>aGt	p.I328S		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	328	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AATTACAGCAATGATTGACAC	0.453																																																	0													73.0	68.0	70.0					1																	229678057		2203	4300	6503	SO:0001583	missense	23456			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.983T>G	1.37:g.229678057A>C	ENSP00000355637:p.Ile328Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.I328S	ENST00000344517.4	37	c.983	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.161203	0.57368	.	.	ENSG00000135776	ENST00000344517	D	0.89415	-2.51	4.91	3.71	0.42584	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.476527	0.24143	N	0.041146	T	0.80093	0.4560	N	0.20530	0.585	0.34285	D	0.682546	B	0.14012	0.009	B	0.26770	0.073	T	0.77482	-0.2571	10	0.18276	T	0.48	-10.2789	11.5697	0.50826	0.8664:0.0:0.0:0.1336	.	328	Q9NRK6	ABCBA_HUMAN	S	328	ENSP00000355637:I328S	ENSP00000355637:I328S	I	-	2	0	ABCB10	227744680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.773000	0.75006	2.190000	0.69967	0.459000	0.35465	ATT	ABCB10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.453	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	A	NM_012089		229678057	-1	no_errors	ENST00000344517	ensembl	human	known	70_37	missense	SNP	0.996	C
ADAM19	8728	genome.wustl.edu	37	5	156915286	156915286	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr5:156915286C>T	ENST00000517905.1	-	21	2581	c.2537G>A	c.(2536-2538)tGc>tAc	p.C846Y	ADAM19_ENST00000430702.2_Missense_Mutation_p.C579Y|ADAM19_ENST00000257527.4_Missense_Mutation_p.C846Y|ADAM19_ENST00000394020.1_Missense_Mutation_p.C848Y			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	846					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAAACGATGCAATTTGGTGC	0.552																																																	0													94.0	99.0	97.0					5																	156915286		2203	4300	6503	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2537G>A	5.37:g.156915286C>T	ENSP00000428654:p.Cys846Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.C848Y	ENST00000517905.1	37	c.2543		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.745|4.745	0.138621|0.138621	0.09083|0.09083	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000517374|ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	.|T;T;T;T	.|0.01599	.|4.74;4.87;4.89;4.86	5.69|5.69	-0.653|-0.653	0.11447|0.11447	.|.	.|0.711168	.|0.13923	.|N	.|0.353406	T|T	0.00967|0.00967	0.0032|0.0032	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.0;0.001	T|T	0.48479|0.48479	-0.9032|-0.9032	5|10	.|0.02654	.|T	.|1	.|.	1.7833|1.7833	0.03036|0.03036	0.1151:0.2046:0.2508:0.4295|0.1151:0.2046:0.2508:0.4295	.|.	.|846;846;579	.|Q9H013-2;Q9H013;E9PD32	.|.;ADA19_HUMAN;.	T|Y	417|579;846;848;846	.|ENSP00000414088:C579Y;ENSP00000257527:C846Y;ENSP00000377588:C848Y;ENSP00000428654:C846Y	.|ENSP00000257527:C846Y	A|C	-|-	1|2	0|0	ADAM19|ADAM19	156847864|156847864	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.081000|0.081000	0.17604|0.17604	0.021000|0.021000	0.13489|0.13489	-0.188000|-0.188000	0.10499|0.10499	0.491000|0.491000	0.48974|0.48974	GCA|TGC	ADAM19	-	NULL		0.552	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	C	NM_033274		156915286	-1	no_errors	ENST00000394020	ensembl	human	known	70_37	missense	SNP	0.000	T
AMBRA1	55626	genome.wustl.edu	37	11	46568609	46568609	+	Intron	DEL	A	A	-			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr11:46568609delA	ENST00000458649.2	-	4	797				AMBRA1_ENST00000314845.3_Intron|AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000426438.1_Intron|AMBRA1_ENST00000528950.1_Intron|AMBRA1_ENST00000298834.3_Intron|AMBRA1_ENST00000533727.1_Intron			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		actccgtctcaaaaaaaaaaa	0.463																																																	0																																										SO:0001627	intron_variant	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.378+53T>-	11.37:g.46568609delA		Somatic		WXS	Illumina HiSeq	Phase_IV	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	RNA	DEL	-	NULL	ENST00000458649.2	37	NULL		11																																																																																			AMBRA1	-	-		0.463	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	A	NM_017749		46568609	-1	no_errors	ENST00000524783	ensembl	human	known	70_37	rna	DEL	0.881	-
ANKRD20A5P	440482	genome.wustl.edu	37	18	14184361	14184362	+	RNA	INS	-	-	T	rs143131015		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr18:14184361_14184362insT	ENST00000581935.1	+	0	1050_1051							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						ATGCAGGGTTATCTTTCCTTTT	0.322																																																	0																																												440482			BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184362_14184362dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G1B6	RNA	INS	-	NULL	ENST00000581935.1	37	NULL		18																																																																																			ANKRD20A5P	-	-		0.322	ANKRD20A5P-002	KNOWN	basic	processed_transcript	ANKRD20A5P	HGNC	pseudogene	OTTHUMT00000442833.1	-			14184362	+1	no_errors	ENST00000581935	ensembl	human	known	70_37	rna	INS	0.001:0.000	T
ATP2B3	492	genome.wustl.edu	37	X	152801868	152801868	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chrX:152801868G>T	ENST00000349466.2	+	2	489	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	ATP2B3_ENST00000359149.3_Missense_Mutation_p.D55Y|ATP2B3_ENST00000263519.4_Missense_Mutation_p.D55Y|ATP2B3_ENST00000370186.1_Missense_Mutation_p.D55Y|ATP2B3_ENST00000370181.2_Missense_Mutation_p.D55Y|ATP2B3_ENST00000393842.1_Missense_Mutation_p.D55Y			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	55					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTACGGGGATGTCAGCGG	0.677																																																	0													39.0	37.0	38.0					X																	152801868		2195	4297	6492	SO:0001583	missense	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.163G>T	X.37:g.152801868G>T	ENSP00000343886:p.Asp55Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.D55Y	ENST00000349466.2	37	c.163	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980993	0.74474	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.79	5.79	0.91817	ATPase, P-type cation-transporter, N-terminal (2);	0.054001	0.64402	D	0.000001	D	0.95085	0.8408	M	0.85859	2.78	0.51233	D	0.999916	D;D	0.61080	0.989;0.989	D;D	0.75484	0.986;0.975	D	0.95561	0.8629	10	0.87932	D	0	-8.2725	17.6305	0.88106	0.0:0.0:1.0:0.0	.	55;55	Q16720;Q16720-2	AT2B3_HUMAN;.	Y	55	ENSP00000359205:D55Y;ENSP00000343886:D55Y;ENSP00000377425:D55Y;ENSP00000352062:D55Y;ENSP00000263519:D55Y;ENSP00000359200:D55Y	ENSP00000263519:D55Y	D	+	1	0	ATP2B3	152455062	0.995000	0.38212	0.945000	0.38365	0.400000	0.30750	6.766000	0.74970	2.435000	0.82474	0.600000	0.82982	GAT	ATP2B3	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N		0.677	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	G	NM_021949		152801868	+1	no_errors	ENST00000263519	ensembl	human	known	70_37	missense	SNP	0.998	T
ATP6V1C2	245973	genome.wustl.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604																																					NSCLC(188;1042 2136 10807 16813 47705)												0																																										SO:0001589	frameshift_variant	245973			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.934_935delAG	2.37:g.10917829_10917830delAG	ENSP00000272238:p.Arg312fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96EL8	Frame_Shift_Del	DEL	pfam_ATPase_V1-cplx_csu	p.E315fs	ENST00000272238.4	37	c.934_935	CCDS42653.1	2																																																																																			ATP6V1C2	-	pfam_ATPase_V1-cplx_csu		0.604	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ATP6V1C2	HGNC	protein_coding	OTTHUMT00000323555.1	AG	NM_144583		10917820	+1	no_errors	ENST00000272238	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
AWAT1	158833	genome.wustl.edu	37	X	69455618	69455618	+	Silent	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chrX:69455618G>A	ENST00000374521.3	+	2	170	c.129G>A	c.(127-129)ccG>ccA	p.P43P	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	43					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCTTGTGGCCGCTACCAGTGC	0.488																																																	0													300.0	225.0	250.0					X																	69455618		2203	4300	6503	SO:0001819	synonymous_variant	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.129G>A	X.37:g.69455618G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JT21|Q6IEE4	Silent	SNP	pfam_DAGAT	p.P43	ENST00000374521.3	37	c.129	CCDS35321.1	X																																																																																			AWAT1	-	pfam_DAGAT		0.488	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	G	NM_001013579		69455618	+1	no_errors	ENST00000374521	ensembl	human	known	70_37	silent	SNP	0.000	A
BEST3	144453	genome.wustl.edu	37	12	70087583	70087583	+	Missense_Mutation	SNP	C	C	T	rs143236582		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr12:70087583C>T	ENST00000330891.5	-	4	578	c.352G>A	c.(352-354)Gac>Aac	p.D118N	BEST3_ENST00000553096.1_Missense_Mutation_p.D12N|BEST3_ENST00000551160.1_Missense_Mutation_p.D12N|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000266661.4_Missense_Mutation_p.D12N|BEST3_ENST00000331471.4_Missense_Mutation_p.D118N|BEST3_ENST00000393365.1_Missense_Mutation_p.D12N|BEST3_ENST00000533674.1_5'UTR	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	118					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCGTGCTCGTCGCTTCCGTGA	0.517																																																	0								C	ASN/ASP	0,4406		0,0,2203	96.0	84.0	88.0		352	5.9	1.0	12	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BEST3	NM_032735.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	118/669	70087583	1,13005	2203	4300	6503	SO:0001583	missense	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.352G>A	12.37:g.70087583C>T	ENSP00000332413:p.Asp118Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.D118N	ENST00000330891.5	37	c.352	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704385	0.88924	0.0	1.16E-4	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000553096;ENST00000552295;ENST00000266661;ENST00000551160;ENST00000393365	D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	M	0.88906	2.99	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;P	0.91635	0.999;0.907	D	0.99301	1.0901	10	0.87932	D	0	-25.1811	20.2187	0.98312	0.0:1.0:0.0:0.0	.	118;118	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	N	118;118;12;12;12;12;12	ENSP00000329064:D118N;ENSP00000332413:D118N;ENSP00000449548:D12N;ENSP00000447689:D12N;ENSP00000266661:D12N;ENSP00000449377:D12N;ENSP00000377032:D12N	ENSP00000266661:D12N	D	-	1	0	BEST3	68373850	1.000000	0.71417	0.966000	0.40874	0.736000	0.42039	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GAC	BEST3	-	pfam_Bestrophin/UPF0187		0.517	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70087583	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	missense	SNP	1.000	T
C2orf42	54980	genome.wustl.edu	37	2	70408314	70408314	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr2:70408314G>T	ENST00000264434.2	-	3	1183	c.804C>A	c.(802-804)ttC>ttA	p.F268L	C2orf42_ENST00000420306.1_Missense_Mutation_p.F268L|C2orf42_ENST00000470096.1_5'Flank	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	268										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CAAAATTTAGGAAGTCTGAGA	0.428																																																	0													51.0	49.0	49.0					2																	70408314		2203	4300	6503	SO:0001583	missense	54980			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.804C>A	2.37:g.70408314G>T	ENSP00000264434:p.Phe268Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5G3|Q9H629	Missense_Mutation	SNP	NULL	p.F268L	ENST00000264434.2	37	c.804	CCDS1899.1	2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405938	0.62288	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	T;T	0.47528	0.84;0.84	4.93	1.84	0.25277	.	0.049455	0.85682	N	0.000000	T	0.37945	0.1022	L	0.58101	1.795	0.43110	D	0.99481	B	0.02656	0.0	B	0.06405	0.002	T	0.26360	-1.0105	10	0.49607	T	0.09	-19.3937	4.924	0.13883	0.2785:0.1689:0.5527:0.0	.	268	Q9NWW7	CB042_HUMAN	L	268	ENSP00000264434:F268L;ENSP00000404515:F268L	ENSP00000264434:F268L	F	-	3	2	C2orf42	70261818	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.086000	0.50159	0.640000	0.30582	0.460000	0.39030	TTC	C2orf42	-	NULL		0.428	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	G	NM_017880		70408314	-1	no_errors	ENST00000264434	ensembl	human	known	70_37	missense	SNP	1.000	T
CD1A	909	genome.wustl.edu	37	1	158226066	158226066	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:158226066C>T	ENST00000289429.5	+	3	1131	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCTCCAGCGGCAAGGTCA	0.463																																																	0													115.0	97.0	103.0					1																	158226066		2203	4300	6503	SO:0001583	missense	909			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.598C>T	1.37:g.158226066C>T	ENSP00000289429:p.Arg200Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.R200W	ENST00000289429.5	37	c.598	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122253	0.37436	.	.	ENSG00000158477	ENST00000289429	T	0.19938	2.11	4.23	-8.46	0.00942	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);	0.232513	0.21411	N	0.074965	T	0.34483	0.0899	H	0.96547	3.84	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47923	-0.9079	10	0.87932	D	0	-16.0605	9.723	0.40315	0.7099:0.1423:0.0:0.1478	.	200	P06126	CD1A_HUMAN	W	200	ENSP00000289429:R200W	ENSP00000289429:R200W	R	+	1	2	CD1A	156492690	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.433000	0.00472	-2.213000	0.00735	-1.815000	0.00603	CGG	CD1A	-	superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like		0.463	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	C	NM_001763		158226066	+1	no_errors	ENST00000289429	ensembl	human	known	70_37	missense	SNP	0.000	T
CELF1	10658	genome.wustl.edu	37	11	47510459	47510459	+	Silent	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr11:47510459G>A	ENST00000358597.3	-	1	107	c.108C>T	c.(106-108)ttC>ttT	p.F36F	CELF1_ENST00000310513.5_Silent_p.F36F|CELF1_ENST00000361904.3_Silent_p.F36F|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000395292.2_Silent_p.F36F|CELF1_ENST00000395290.2_Silent_p.F36F|CELF1_ENST00000532048.1_Silent_p.F63F|CELF1_ENST00000531165.1_Silent_p.F63F			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	36	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)	p.F36L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CATACTGTTCGAAGAGTTCCC	0.493																																					Pancreas(163;1949 1966 9906 43218 43785)												1	Substitution - Missense(1)	lung(1)											155.0	155.0	155.0					11																	47510459		2201	4298	6499	SO:0001819	synonymous_variant	10658			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.108C>T	11.37:g.47510459G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F63	ENST00000358597.3	37	c.189	CCDS31482.1	11																																																																																			CELF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.493	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF1	HGNC	protein_coding	OTTHUMT00000398352.1	G	NM_006560		47510459	-1	no_errors	ENST00000532048	ensembl	human	known	70_37	silent	SNP	0.992	A
CHMP7	91782	genome.wustl.edu	37	8	23112868	23112868	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:23112868G>A	ENST00000397677.1	+	4	1228	c.580G>A	c.(580-582)Gag>Aag	p.E194K	CHMP7_ENST00000313219.7_Missense_Mutation_p.E194K	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	194					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTGCCCAGATGAGAGGACCTT	0.567																																																	0													102.0	94.0	96.0					8																	23112868		2203	4300	6503	SO:0001583	missense	91782			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.580G>A	8.37:g.23112868G>A	ENSP00000380794:p.Glu194Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	pfam_Snf7	p.E194K	ENST00000397677.1	37	c.580	CCDS6040.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.214646	0.95104	.	.	ENSG00000147457	ENST00000397677;ENST00000313219;ENST00000519984	T;T	0.60040	0.22;0.22	5.79	5.79	0.91817	.	0.097299	0.64402	D	0.000001	T	0.68054	0.2959	M	0.62723	1.935	0.48696	D	0.999699	D;P	0.76494	0.999;0.956	P;P	0.60415	0.874;0.468	T	0.62793	-0.6779	10	0.22109	T	0.4	-25.4913	14.2275	0.65871	0.0:0.1493:0.8507:0.0	.	84;194	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	K	194;194;207	ENSP00000380794:E194K;ENSP00000324491:E194K	ENSP00000324491:E194K	E	+	1	0	CHMP7	23168813	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	6.330000	0.72925	2.726000	0.93360	0.655000	0.94253	GAG	CHMP7	-	NULL		0.567	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP7	HGNC	protein_coding	OTTHUMT00000254717.1	G	NM_152272		23112868	+1	no_errors	ENST00000313219	ensembl	human	known	70_37	missense	SNP	1.000	A
CNBD1	168975	genome.wustl.edu	37	8	88296944	88296944	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:88296944G>T	ENST00000518476.1	+	7	861	c.810G>T	c.(808-810)atG>atT	p.M270I	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	270										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGGAAGTTATGCCTCAGAATG	0.393																																																	0													81.0	77.0	78.0					8																	88296944		1843	4084	5927	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.810G>T	8.37:g.88296944G>T	ENSP00000430073:p.Met270Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.M270I	ENST00000518476.1	37	c.810	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	g	0.750	-0.773105	0.02951	.	.	ENSG00000176571	ENST00000518476	D	0.96104	-3.91	4.31	1.89	0.25635	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	1.972720	0.03161	N	0.169334	D	0.83243	0.5212	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.80745	-0.1245	10	0.02654	T	1	0.1578	5.0543	0.14524	0.7395:0.0:0.2605:0.0	.	270	Q8NA66	CNBD1_HUMAN	I	270	ENSP00000430073:M270I	ENSP00000430073:M270I	M	+	3	0	CNBD1	88366060	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.095000	0.11077	0.689000	0.31550	-0.374000	0.07098	ATG	CNBD1	-	superfamily_cNMP-bd-like		0.393	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	G	NM_173538		88296944	+1	no_errors	ENST00000518476	ensembl	human	known	70_37	missense	SNP	0.000	T
COL5A2	1290	genome.wustl.edu	37	2	189907496	189907496	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr2:189907496G>A	ENST00000374866.3	-	49	3749	c.3475C>T	c.(3475-3477)Cca>Tca	p.P1159S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1159					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCACCATTTGGACCCTAAGTA	0.378																																																	0													65.0	58.0	61.0					2																	189907496		2203	4300	6503	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3475C>T	2.37:g.189907496G>A	ENSP00000364000:p.Pro1159Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P1159S	ENST00000374866.3	37	c.3475	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011516	0.35511	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.96587	-4.06	5.76	5.76	0.90799	.	0.000000	0.51477	D	0.000089	D	0.94814	0.8325	L	0.41961	1.31	0.58432	D	0.999998	B;P	0.44429	0.409;0.835	B;P	0.45071	0.253;0.468	D	0.92597	0.6088	10	0.12103	T	0.63	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	799;1159	Q5PR22;P05997	.;CO5A2_HUMAN	S	1159;799	ENSP00000364000:P1159S	ENSP00000364000:P1159S	P	-	1	0	COL5A2	189615741	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.226000	0.51254	2.871000	0.98454	0.655000	0.94253	CCA	COL5A2	-	pfam_Collagen		0.378	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393		189907496	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	missense	SNP	1.000	A
CSTL1	128817	genome.wustl.edu	37	20	23420796	23420796	+	5'UTR	SNP	G	G	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr20:23420796G>T	ENST00000347397.1	+	0	138				CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000246020.2_5'Flank	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1							extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CCATCCCCCAGGAAAGCCTAT	0.498																																																	0																																										SO:0001623	5_prime_UTR_variant	128817			AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000347397.1:c.-109G>T	20.37:g.23420796G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RA8|Q64FF7	RNA	SNP	-	NULL	ENST00000347397.1	37	NULL	CCDS13153.1	20																																																																																			CSTL1	-	-		0.498	CSTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTL1	HGNC	protein_coding		G			23420796	+1	no_errors	ENST00000472140	ensembl	human	known	70_37	rna	SNP	0.001	T
DNAJC14	85406	genome.wustl.edu	37	12	56221240	56221240	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr12:56221240C>G	ENST00000357606.3	-	3	1492	c.1203G>C	c.(1201-1203)ttG>ttC	p.L401F	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.A31P|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.L401F|DNAJC14_ENST00000317287.5_Missense_Mutation_p.L401F			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	401					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TGACCCAAGGCAACTCCAGCC	0.557																																																	0													104.0	101.0	102.0					12																	56221240		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1203G>C	12.37:g.56221240C>G	ENSP00000350223:p.Leu401Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L401F	ENST00000357606.3	37	c.1203	CCDS8894.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.32|11.32	1.604956|1.604956	0.28623|0.28623	.|.	.|.	ENSG00000257390|ENSG00000135392	ENST00000546837|ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	.|T;T;T	.|0.35789	.|1.29;1.29;1.29	5.2|5.2	3.34|3.34	0.38264|0.38264	.|.	.|1.043170	.|0.07593	.|N	.|0.922318	T|T	0.25531|0.25531	0.0621|0.0621	L|L	0.27053|0.27053	0.805|0.805	0.23645|0.23645	N|N	0.99721|0.99721	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.20140|0.20140	-1.0284|-1.0284	5|10	.|0.19147	.|T	.|0.46	-1.6414|-1.6414	8.6406|8.6406	0.33974|0.33974	0.0:0.813:0.0:0.187|0.0:0.813:0.0:0.187	.|.	.|401;401	.|Q6Y2X3;A8K5A7	.|DJC14_HUMAN;.	P|F	31|401;401;111;401	.|ENSP00000350223:L401F;ENSP00000316240:L401F;ENSP00000317500:L401F	.|ENSP00000316240:L401F	A|L	-|-	1|3	0|2	RP11-762I7.5|DNAJC14	54507507|54507507	0.665000|0.665000	0.27466|0.27466	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.065000|0.065000	0.14466|0.14466	1.336000|1.336000	0.45506|0.45506	0.655000|0.655000	0.94253|0.94253	GCC|TTG	DNAJC14	-	NULL		0.557	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	C	NM_032364		56221240	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	1.000	G
DUSP10	11221	genome.wustl.edu	37	1	221875157	221875157	+	3'UTR	DEL	A	A	-			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:221875157delA	ENST00000366899.3	-	0	2284				DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_3'UTR|DUSP10_ENST00000323825.3_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CCAGAGAAGGAAAAAAAAAAA	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	11221			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*597T>-	1.37:g.221875157delA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTB4|Q6GSI4|Q9H9Z5	RNA	DEL	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-		0.353	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	A	NM_007207		221875157	-1	no_errors	ENST00000468085	ensembl	human	known	70_37	rna	DEL	0.000	-
SLC35E2	9906	genome.wustl.edu	37	1	1664089	1664089	+	Intron	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:1664089G>A	ENST00000246421.4	-	6	1148				SLC35E2_ENST00000355439.2_Intron|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000475229.1_Intron|SLC35E2_ENST00000400924.1_Intron|RP1-283E3.4_ENST00000417099.1_RNA	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2							integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGGAAAGCAGAGAAGAGGGA	0.547																																																	0																																										SO:0001627	intron_variant	0			AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.733-127C>T	1.37:g.1664089G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	RNA	SNP	-	NULL	ENST00000246421.4	37	NULL	CCDS33.1	1																																																																																			RP1-283E3.4	-	-		0.547	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	ENSG00000227775	Clone_based_vega_gene	protein_coding	OTTHUMT00000002210.3	G	XM_049733		1664089	+1	no_errors	ENST00000424604	ensembl	human	known	70_37	rna	SNP	0.042	A
ERC2	26059	genome.wustl.edu	37	3	56468506	56468506	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr3:56468506G>A	ENST00000288221.6	-	2	785	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	177						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTTCATGGAAGATCCCAATTT	0.483																																																	0													232.0	223.0	226.0					3																	56468506		1934	4144	6078	SO:0001583	missense	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.530C>T	3.37:g.56468506G>A	ENSP00000288221:p.Ser177Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.S177F	ENST00000288221.6	37	c.530	CCDS46851.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542162	0.85917	.	.	ENSG00000187672	ENST00000288221	T	0.49139	0.79	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.78049	2.395	0.58432	D	0.999999	D	0.67145	0.996	D	0.77557	0.99	T	0.74006	-0.3803	10	0.87932	D	0	-11.5545	19.971	0.97285	0.0:0.0:1.0:0.0	.	177	O15083	ERC2_HUMAN	F	177	ENSP00000288221:S177F	ENSP00000288221:S177F	S	-	2	0	ERC2	56443546	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.859000	0.99545	2.733000	0.93635	0.637000	0.83480	TCT	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot		0.483	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	G	NM_015576		56468506	-1	no_errors	ENST00000288221	ensembl	human	known	70_37	missense	SNP	1.000	A
ERICH1	157697	genome.wustl.edu	37	8	623556	623556	+	Missense_Mutation	SNP	C	C	A	rs552049087	byFrequency	TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:623556C>A	ENST00000262109.7	-	4	873	c.796G>T	c.(796-798)Gtt>Ttt	p.V266F	ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Missense_Mutation_p.V172F	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	266	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GCGTCTTTAACGTCTTCCTCC	0.637																																																	0													120.0	117.0	118.0					8																	623556		2203	4300	6503	SO:0001583	missense	157697				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.796G>T	8.37:g.623556C>A	ENSP00000262109:p.Val266Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2J9|Q9P063	Missense_Mutation	SNP	NULL	p.V266F	ENST00000262109.7	37	c.796	CCDS5955.1	8	.	.	.	.	.	.	.	.	.	.	C	7.020	0.558567	0.13436	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.32988	1.43;1.46	0.571	0.571	0.17352	.	.	.	.	.	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	P;P;D	0.63880	0.759;0.876;0.993	B;B;P	0.49301	0.114;0.164;0.606	T	0.12218	-1.0556	9	0.09338	T	0.73	1.8262	6.9367	0.24470	0.0:0.9999:0.0:1.0E-4	.	266;266;172	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	F	266;172;266	ENSP00000428635:V172F;ENSP00000262109:V266F	ENSP00000262109:V266F	V	-	1	0	ERICH1	613556	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.099000	0.11007	0.569000	0.29329	0.411000	0.27672	GTT	ERICH1	-	NULL		0.637	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERICH1	HGNC	protein_coding	OTTHUMT00000251228.3	C	NM_207332		623556	-1	no_errors	ENST00000262109	ensembl	human	known	70_37	missense	SNP	0.017	A
FAM92A1P2	403315	genome.wustl.edu	37	4	183959690	183959691	+	RNA	INS	-	-	A	rs148993510|rs77459122		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr4:183959690_183959691insA	ENST00000502308.1	+	0	873_874					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		gactctgtctcaaaaaaaaaaa	0.495																																																	0																																												403315			BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183959701_183959701dupA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000502308.1	37	NULL		4																																																																																			FAM92A1P2	-	-		0.495	FAM92A1P2-002	KNOWN	basic	processed_transcript	FAM92A1P2	HGNC	pseudogene	OTTHUMT00000361814.1	-			183959691	+1	no_errors	ENST00000502308	ensembl	human	known	70_37	rna	INS	0.071:0.079	A
FBXW4	6468	genome.wustl.edu	37	10	103386256	103386257	+	Intron	INS	-	-	T	rs199557169	byFrequency	TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr10:103386256_103386257insT	ENST00000331272.7	-	6	1389				FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4						cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		ACAGGCAtctcttttttttttg	0.53													|||unknown(HR)	139	0.0277556	0.0219	0.0101	5008	,	,		16765	0.004		0.0119	False		,,,				2504	0.089																0																																										SO:0001627	intron_variant	6468			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.771-1689->A	10.37:g.103386266_103386266dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SVS1|Q96IM6	RNA	INS	-	NULL	ENST00000331272.7	37	NULL	CCDS31271.1	10																																																																																			FBXW4	-	-		0.530	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	HGNC	protein_coding	OTTHUMT00000049979.2	-	NM_022039		103386257	-1	no_errors	ENST00000470093	ensembl	human	known	70_37	rna	INS	0.007:0.005	T
FLJ16171	441116	genome.wustl.edu	37	5	174422444	174422444	+	lincRNA	SNP	G	G	A	rs140165114	byFrequency	TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr5:174422444G>A	ENST00000377300.3	-	0	72					NR_046113.1																						ctaggagtgcgtattgctatg	0.493																																																	0																																												441116																															5.37:g.174422444G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000377300.3	37	NULL		5																																																																																			CTC-281M20.1	-	-		0.493	CTC-281M20.1-001	KNOWN	basic	lincRNA	FLJ16171	Clone_based_vega_gene	lincRNA	OTTHUMT00000371773.1	G			174422444	-1	no_errors	ENST00000377300	ensembl	human	known	70_37	rna	SNP	0.001	A
FMN2	56776	genome.wustl.edu	37	1	240255683	240255683	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:240255683G>A	ENST00000319653.9	+	1	504	c.274G>A	c.(274-276)Ggc>Agc	p.G92S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	92					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGCGCCGGCGGCTCCCGCGA	0.627																																																	0													16.0	20.0	19.0					1																	240255683		2201	4298	6499	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.274G>A	1.37:g.240255683G>A	ENSP00000318884:p.Gly92Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.G92S	ENST00000319653.9	37	c.274	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458566	0.43634	.	.	ENSG00000155816	ENST00000319653	T	0.27256	1.68	4.2	3.2	0.36748	.	0.198776	0.34959	N	0.003543	T	0.13543	0.0328	L	0.40543	1.245	0.80722	D	1	P	0.34546	0.456	B	0.22601	0.04	T	0.05767	-1.0865	10	0.14656	T	0.56	.	5.7906	0.18359	0.1434:0.1989:0.6577:0.0	.	92	Q9NZ56	FMN2_HUMAN	S	92	ENSP00000318884:G92S	ENSP00000318884:G92S	G	+	1	0	FMN2	238322306	1.000000	0.71417	0.995000	0.50966	0.893000	0.52053	5.295000	0.65692	2.037000	0.60232	0.313000	0.20887	GGC	FMN2	-	NULL		0.627	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	G	XM_371352		240255683	+1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.990	A
FOLH1	2346	genome.wustl.edu	37	11	49221891	49221891	+	Silent	SNP	C	C	T	rs146289798	byFrequency	TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr11:49221891C>T	ENST00000256999.2	-	3	587	c.327G>A	c.(325-327)gaG>gaA	p.E109E	FOLH1_ENST00000356696.3_Silent_p.E109E|FOLH1_ENST00000340334.7_Silent_p.E94E|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Silent_p.E94E	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	109					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AATGTGCTAGCTCAACAGAAT	0.353													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		15585	0.0		0.0	False		,,,				2504	0.0																0								C	,,,,	13,4385	20.2+/-43.8	0,13,2186	70.0	71.0	71.0		327,282,282,,327	0.4	1.0	11	dbSNP_134	71	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	FOLH1	NM_001014986.1,NM_001193471.1,NM_001193472.1,NM_001193473.1,NM_004476.1	,,,,	0,13,6484	TT,TC,CC		0.0,0.2956,0.1	,,,,	109/720,94/736,94/705,,109/751	49221891	13,12981	2199	4298	6497	SO:0001819	synonymous_variant	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.327G>A	11.37:g.49221891C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.E109	ENST00000256999.2	37	c.327	CCDS7946.1	11																																																																																			FOLH1	-	NULL		0.353	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	C	NM_004476		49221891	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	silent	SNP	0.997	T
GFRA3	2676	genome.wustl.edu	37	5	137593424	137593424	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr5:137593424C>T	ENST00000274721.3	-	4	935	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R199H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	230					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GTTGCGCCGGCGCTCCCCGCA	0.706																																																	0													15.0	18.0	17.0					5																	137593424		2188	4256	6444	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.689G>A	5.37:g.137593424C>T	ENSP00000274721:p.Arg230His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.R230H	ENST00000274721.3	37	c.689	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015461	0.93404	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.63913	-0.07;-0.07	4.81	4.81	0.61882	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.79375	0.4435	M	0.83483	2.645	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81215	-0.1034	10	0.49607	T	0.09	-32.1129	13.371	0.60713	0.0:1.0:0.0:0.0	.	199;230	O60609-2;O60609	.;GFRA3_HUMAN	H	230;199	ENSP00000274721:R230H;ENSP00000367613:R199H	ENSP00000274721:R230H	R	-	2	0	GFRA3	137621323	0.999000	0.42202	0.998000	0.56505	0.953000	0.61014	5.251000	0.65438	2.212000	0.71576	0.655000	0.94253	CGC	GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt		0.706	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	C	NM_001496		137593424	-1	no_errors	ENST00000274721	ensembl	human	known	70_37	missense	SNP	1.000	T
GRB7	2886	genome.wustl.edu	37	17	37899650	37899650	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr17:37899650C>A	ENST00000309156.4	+	6	847	c.590C>A	c.(589-591)tCc>tAc	p.S197Y	GRB7_ENST00000394211.3_Missense_Mutation_p.S197Y|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000309185.3_Missense_Mutation_p.S197Y|GRB7_ENST00000394209.2_Missense_Mutation_p.S197Y|GRB7_ENST00000445327.2_Missense_Mutation_p.S220Y|GRB7_ENST00000394204.1_Missense_Mutation_p.S197Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	197					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCACAGCACTCCCTGTTCCCA	0.577																																																	0													137.0	122.0	127.0					17																	37899650		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.590C>A	17.37:g.37899650C>A	ENSP00000310771:p.Ser197Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.S220Y	ENST00000309156.4	37	c.659	CCDS11345.1	17	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549761	0.27652	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.54866	0.55;1.68;1.68;1.68;1.67;0.55	5.31	5.31	0.75309	.	0.574893	0.20105	N	0.099155	T	0.41073	0.1143	N	0.11927	0.2	0.36655	D	0.87762	D;B	0.56035	0.974;0.005	P;B	0.51135	0.66;0.011	T	0.28364	-1.0046	10	0.02654	T	1	-29.0821	15.9994	0.80280	0.0:1.0:0.0:0.0	.	197;197	Q14451-2;Q14451	.;GRB7_HUMAN	Y	197;197;197;197;220;197	ENSP00000311752:S197Y;ENSP00000310771:S197Y;ENSP00000377761:S197Y;ENSP00000377759:S197Y;ENSP00000403459:S220Y;ENSP00000377754:S197Y	ENSP00000310771:S197Y	S	+	2	0	GRB7	35153176	0.646000	0.27295	1.000000	0.80357	0.746000	0.42486	0.579000	0.23788	2.768000	0.95171	0.561000	0.74099	TCC	GRB7	-	NULL		0.577	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB7	HGNC	protein_coding	OTTHUMT00000257024.2	C	NM_005310		37899650	+1	no_errors	ENST00000445327	ensembl	human	known	70_37	missense	SNP	1.000	A
GSTT2B	653689	genome.wustl.edu	37	22	24302513	24302513	+	Silent	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr22:24302513C>T	ENST00000290765.4	-	2	222	c.168G>A	c.(166-168)acG>acA	p.T56T	GSTT2B_ENST00000404172.3_Silent_p.T56T	NM_001080843.2	NP_001074312.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2B (gene/pseudogene)	56	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)										CATCCTTGAGCGTCGGCAGTT	0.547																																																	0													3.0	3.0	3.0					22																	24302513		1433	2800	4233	SO:0001819	synonymous_variant	653689			BC071700	CCDS33617.1	22q11.23	2012-06-21			ENSG00000133433	ENSG00000133433	2.5.1.18	"""Glutathione S-transferases / Soluble"""	33437	protein-coding gene	gene with protein product						9729470	Standard	NM_001080843		Approved	GSTT2P		P0CG30	OTTHUMG00000150774	ENST00000290765.4:c.168G>A	22.37:g.24302513C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.T56	ENST00000290765.4	37	c.168	CCDS33617.1	22																																																																																			GSTT2B	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.547	GSTT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT2B	HGNC	protein_coding	OTTHUMT00000320012.1	C	NM_001080843		24302513	-1	no_errors	ENST00000290765	ensembl	human	known	70_37	silent	SNP	0.001	T
GSTT2	2953	genome.wustl.edu	37	22	24323194	24323194	+	Silent	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr22:24323194G>A	ENST00000215780.5	+	2	218	c.168G>A	c.(166-168)acG>acA	p.T56T	DDT_ENST00000350608.3_5'Flank|DDT_ENST00000404092.1_5'Flank|GSTT2_ENST00000402588.3_Silent_p.T56T	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	56	GST N-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.T56T(1)		lung(1)	1						AACTGCCGACGCTCAAGGATG	0.557																																																	1	Substitution - coding silent(1)	lung(1)											347.0	285.0	306.0					22																	24323194		2203	4298	6501	SO:0001819	synonymous_variant	2953			L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.168G>A	22.37:g.24323194G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.T56	ENST00000215780.5	37	c.168	CCDS13821.1	22																																																																																			GSTT2	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.557	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT2	HGNC	protein_coding	OTTHUMT00000320080.1	G	NM_000854		24323194	+1	no_errors	ENST00000215780	ensembl	human	known	70_37	silent	SNP	0.001	A
HDAC2	3066	genome.wustl.edu	37	6	114292110	114292112	+	5'UTR	DEL	CTG	CTG	-			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr6:114292110_114292112delCTG	ENST00000519065.1	-	0	337_339				RP3-399L15.3_ENST00000521888.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000520891.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Del_p.S81del|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000522844.1_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685																																																	1	Substitution - Missense(1)	prostate(1)																																								SO:0001623	5_prime_UTR_variant	3066			U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-40CAG>-	6.37:g.114292119_114292121delCTG		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Del	DEL	pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse	p.S81in_frame_del	ENST00000519065.1	37	c.245_243	CCDS43493.2	6																																																																																			HDAC2	-	NULL		0.685	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC2	HGNC	protein_coding	OTTHUMT00000041909.2	CTG			114292112	-1	no_errors	ENST00000398283	ensembl	human	known	70_37	in_frame_del	DEL	0.004:0.002:0.001	-
HOOK1	51361	genome.wustl.edu	37	1	60294516	60294516	+	Silent	SNP	A	A	C			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:60294516A>C	ENST00000371208.3	+	3	471	c.214A>C	c.(214-216)Aga>Cga	p.R72R	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.R30R	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	72	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGACAACTGGAGAATAAAGGT	0.348																																																	0													112.0	107.0	109.0					1																	60294516		2202	4300	6502	SO:0001819	synonymous_variant	51361			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.214A>C	1.37:g.60294516A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP	pfam_HOOK,superfamily_Prefoldin	p.R72	ENST00000371208.3	37	c.214	CCDS612.1	1																																																																																			HOOK1	-	pfam_HOOK		0.348	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	A	NM_015888		60294516	+1	no_errors	ENST00000371208	ensembl	human	known	70_37	silent	SNP	1.000	C
ITPRIPL1	150771	genome.wustl.edu	37	2	96992535	96992535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr2:96992535G>T	ENST00000439118.2	+	3	417	c.166G>T	c.(166-168)Gag>Tag	p.E56*	ITPRIPL1_ENST00000542887.1_Nonsense_Mutation_p.E48*|ITPRIPL1_ENST00000536814.1_Nonsense_Mutation_p.E48*|ITPRIPL1_ENST00000361124.4_Nonsense_Mutation_p.E64*	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	56						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCCTGCTAGAGATGGAGTT	0.547																																																	0													100.0	98.0	98.0					2																	96992535		2203	4300	6503	SO:0001587	stop_gained	150771				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.166G>T	2.37:g.96992535G>T	ENSP00000389308:p.Glu56*	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H1L8|Q8NE61	Nonsense_Mutation	SNP	NULL	p.E64*	ENST00000439118.2	37	c.190	CCDS46360.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.543274|4.543274	0.86022|0.86022	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887|ENST00000420728	.|.	.|.	.|.	5.12|5.12	4.24|4.24	0.50183|0.50183	.|.	0.250727|.	0.20944|.	N|.	0.082873|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.19147|.	T|.	0.46|.	-5.1269|-5.1269	7.229|7.229	0.26033|0.26033	0.2612:0.0:0.7388:0.0|0.2612:0.0:0.7388:0.0	.|.	.|.	.|.	.|.	X|Y	48;48;56;64;48|87	.|.	ENSP00000355121:E64X|.	E|X	+|+	1|3	0|2	ITPRIPL1|ITPRIPL1	96356262|96356262	1.000000|1.000000	0.71417|0.71417	0.622000|0.622000	0.29159|0.29159	0.478000|0.478000	0.33099|0.33099	2.623000|2.623000	0.46435|0.46435	1.301000|1.301000	0.44836|0.44836	0.655000|0.655000	0.94253|0.94253	GAG|TAG	ITPRIPL1	-	NULL		0.547	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	ITPRIPL1	HGNC	protein_coding	OTTHUMT00000338896.1	G	NM_178495		96992535	+1	no_errors	ENST00000361124	ensembl	human	known	70_37	nonsense	SNP	0.566	T
KIF1A	547	genome.wustl.edu	37	2	241696871	241696871	+	Intron	SNP	T	T	C			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr2:241696871T>C	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_Missense_Mutation_p.E908G	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ctcctcctcctcccccACGCT	0.682																																																	0																																										SO:0001627	intron_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+905A>G	2.37:g.241696871T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E908G	ENST00000320389.7	37	c.2723	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	T	8.609	0.888640	0.17540	.	.	ENSG00000130294	ENST00000498729;ENST00000373308;ENST00000404283	T;T	0.73258	-0.66;-0.73	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.53932	0.1827	.	.	.	0.20563	N	0.999888	B;B	0.25486	0.127;0.097	B;B	0.28232	0.087;0.009	T	0.40887	-0.9539	7	0.30078	T	0.28	.	.	.	.	.	908;908	F5H045;Q12756-2	.;.	G	908	ENSP00000438388:E908G;ENSP00000384231:E908G	ENSP00000362405:E908G	E	-	2	0	KIF1A	241345544	0.997000	0.39634	0.981000	0.43875	0.947000	0.59692	0.359000	0.20233	0.115000	0.18071	0.113000	0.15668	GAG	KIF1A	-	NULL		0.682	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	T	NM_138483		241696871	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	0.989	C
LOC388572	388572	genome.wustl.edu	37	11	134695	134695	+	RNA	SNP	G	G	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr11:134695G>T	ENST00000527297.1	+	0	235																											CTGCCGTGACGTAGGGTATGG	0.577																																																	0																																												101060495																															11.37:g.134695G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000527297.1	37	NULL		11																																																																																			RP11-304M2.2	-	-		0.577	RP11-304M2.3-001	KNOWN	basic	antisense	LOC101060495	Clone_based_vega_gene	antisense	OTTHUMT00000384758.1	G			134695	-1	no_errors	ENST00000527683	ensembl	human	known	70_37	rna	SNP	0.083	T
MED12	9968	genome.wustl.edu	37	X	70338671	70338671	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chrX:70338671G>T	ENST00000374080.3	+	1	99	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	MED12_ENST00000333646.6_Missense_Mutation_p.D23Y|MED12_ENST00000374102.1_Missense_Mutation_p.D23Y			Q93074	MED12_HUMAN	mediator complex subunit 12	23					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.D23Y(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGGCCTCCCGATGTTTACCC	0.677			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	2	Substitution - Missense(2)	endometrium(2)											13.0	14.0	14.0					X																	70338671		1798	4039	5837	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.67G>T	X.37:g.70338671G>T	ENSP00000363193:p.Asp23Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.D23Y	ENST00000374080.3	37	c.67	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	31	5.063784	0.93898	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080	T;T;T	0.73363	-0.74;-0.72;-0.73	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	D	0.84705	0.5531	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.87205	0.2243	10	0.87932	D	0	-12.2737	16.5123	0.84289	0.0:0.0:1.0:0.0	.	23;23;23	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	Y	23	ENSP00000333125:D23Y;ENSP00000363215:D23Y;ENSP00000363193:D23Y	ENSP00000333125:D23Y	D	+	1	0	MED12	70255396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.367000	0.90113	2.007000	0.58848	0.431000	0.28591	GAT	MED12	-	NULL		0.677	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	G	NM_005120		70338671	+1	no_errors	ENST00000333646	ensembl	human	known	70_37	missense	SNP	1.000	T
MPZL2	10205	genome.wustl.edu	37	11	118130861	118130861	+	Silent	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr11:118130861C>T	ENST00000278937.2	-	4	620	c.492G>A	c.(490-492)ctG>ctA	p.L164L	MPZL2_ENST00000438295.2_Silent_p.L164L|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	164					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTATGATCATCAGTGCACAGG	0.433																																																	0													159.0	160.0	160.0					11																	118130861		2200	4296	6496	SO:0001819	synonymous_variant	10205			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.492G>A	11.37:g.118130861C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2R1	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.L164	ENST00000278937.2	37	c.492	CCDS8393.1	11																																																																																			MPZL2	-	prints_Myelin_P0		0.433	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MPZL2	HGNC	protein_coding	OTTHUMT00000392113.1	C	NM_005797		118130861	-1	no_errors	ENST00000438295	ensembl	human	known	70_37	silent	SNP	1.000	T
MTUS2	23281	genome.wustl.edu	37	13	30077199	30077199	+	Silent	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr13:30077199G>A	ENST00000380808.2	+	9	1119	c.903G>A	c.(901-903)ttG>ttA	p.L301L	MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000431530.3_Silent_p.L1332L|MTUS2_ENST00000542829.1_Silent_p.L211L	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1322						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGAAGAGATTGAGCCGAACCA	0.507																																																	0													80.0	91.0	88.0					13																	30077199		1984	4157	6141	SO:0001819	synonymous_variant	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.903G>A	13.37:g.30077199G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	NULL	p.L1332	ENST00000380808.2	37	c.3996	CCDS41874.1	13																																																																																			MTUS2	-	NULL		0.507	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	G	XM_166270		30077199	+1	no_errors	ENST00000431530	ensembl	human	known	70_37	silent	SNP	0.994	A
MYO9A	4649	genome.wustl.edu	37	15	72144517	72144517	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr15:72144517G>C	ENST00000356056.5	-	36	6903	c.6431C>G	c.(6430-6432)cCt>cGt	p.P2144R	MYO9A_ENST00000424560.1_Missense_Mutation_p.P2215R|MYO9A_ENST00000444904.1_Missense_Mutation_p.P2125R|MYO9A_ENST00000564571.1_Missense_Mutation_p.P2144R	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2144	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGTCATGAGAGGATTGGGCAA	0.408																																																	0													103.0	94.0	97.0					15																	72144517		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6431C>G	15.37:g.72144517G>C	ENSP00000348349:p.Pro2144Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.P2215R	ENST00000356056.5	37	c.6644	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874737	0.91664	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.58060	0.36;0.36;0.36	5.93	5.93	0.95920	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	D	0.84297	0.5441	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89354	0.3663	9	0.87932	D	0	.	20.3324	0.98724	0.0:0.0:1.0:0.0	.	2144;1908	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	R	2144;2215;2125	ENSP00000348349:P2144R;ENSP00000399162:P2215R;ENSP00000398250:P2125R	ENSP00000348349:P2144R	P	-	2	0	MYO9A	69931571	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.835000	0.99442	2.799000	0.96334	0.650000	0.86243	CCT	MYO9A	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.408	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	G	NM_006901		72144517	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	14	19488836	19488836	+	IGR	SNP	A	A	G	rs113349659		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr14:19488836A>G								RP11-536C10.16 (74938 upstream) : MED15P1 (11009 downstream)																							AGCACACTTTACCTGTCCTTA	0.353																																																	0																																										SO:0001628	intergenic_variant	100419029																															14.37:g.19488836A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	NULL		37	c.NULL		14																																																																																			NF1P4	-	-	0	0.353					NF1P4	HGNC			A			19488836	-1	no_errors	ENST00000548793	ensembl	human	known	70_37	splice_site	SNP	1.000	G
NMD3	51068	genome.wustl.edu	37	3	160970625	160970625	+	IGR	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr3:160970625G>A	ENST00000460469.1	+	0	3061				NMD3_ENST00000472947.1_Missense_Mutation_p.A521T			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor						protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ggtggttgacgcctgtaatcc	0.488																																																	0																																										SO:0001628	intergenic_variant	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063		3.37:g.160970625G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	pfam_NMD3	p.A521T	ENST00000460469.1	37	c.1561	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	G	5.709	0.315367	0.10789	.	.	ENSG00000169251	ENST00000472947	T	0.45276	0.9	0.597	-1.19	0.09585	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.09310	N	1	B	0.29188	0.236	B	0.12837	0.008	T	0.12192	-1.0557	7	0.87932	D	0	.	.	.	.	.	521	C9JA08	.	T	521	ENSP00000417559:A521T	ENSP00000417559:A521T	A	+	1	0	NMD3	162453319	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-1.196000	0.02676	-0.823000	0.03104	GCC	NMD3	-	NULL		0.488	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	G	NM_015938		160970625	+1	no_errors	ENST00000472947	ensembl	human	putative	70_37	missense	SNP	0.001	A
NPBWR1	2831	genome.wustl.edu	37	8	53853152	53853152	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:53853152C>T	ENST00000331251.3	+	1	2162	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	229					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CCTGCTGTGCCGGCTGCATGC	0.672																																																	0													26.0	16.0	19.0					8																	53853152		2178	4247	6425	SO:0001583	missense	2831			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.685C>T	8.37:g.53853152C>T	ENSP00000330284:p.Arg229Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.R229W	ENST00000331251.3	37	c.685	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046744	0.75846	.	.	ENSG00000183729	ENST00000331251	T	0.38240	1.15	5.32	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.257981	0.25083	N	0.033269	T	0.63117	0.2484	M	0.92970	3.365	0.39985	D	0.974979	D	0.89917	1.0	D	0.64877	0.93	T	0.69405	-0.5154	10	0.87932	D	0	.	9.1038	0.36685	0.4474:0.4341:0.1185:0.0	.	229	P48145	NPBW1_HUMAN	W	229	ENSP00000330284:R229W	ENSP00000330284:R229W	R	+	1	2	NPBWR1	54015705	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.720000	0.47252	0.797000	0.33971	0.655000	0.94253	CGG	NPBWR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt		0.672	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	C	NM_005285		53853152	+1	no_errors	ENST00000331251	ensembl	human	known	70_37	missense	SNP	1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228464416	228464416	+	Splice_Site	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:228464416C>T	ENST00000422127.1	+	22	6530	c.6486C>T	c.(6484-6486)acC>acT	p.T2162T	OBSCN_ENST00000359599.6_Splice_Site_p.T1009T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Splice_Site_p.T2537T|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Splice_Site_p.T2162T|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2162	Ig-like 21.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCGTGGTCACCGGTGCGTTGG	0.682																																																	0													6.0	7.0	7.0					1																	228464416		1949	4075	6024	SO:0001630	splice_region_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6487+1C>T	1.37:g.228464416C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.T2162	ENST00000422127.1	37	c.6486	CCDS58065.1	1																																																																																			OBSCN	-	smart_Ig_sub		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843	Silent	228464416	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	silent	SNP	0.053	T
PCDHB13	56123	genome.wustl.edu	37	5	140595285	140595285	+	Silent	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr5:140595285C>T	ENST00000341948.4	+	1	1777	c.1590C>T	c.(1588-1590)cgC>cgT	p.R530R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAGTTCCGCGTGGGCGCTT	0.672																																																	0													57.0	65.0	63.0					5																	140595285		2203	4300	6503	SO:0001819	synonymous_variant	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1590C>T	5.37:g.140595285C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R530	ENST00000341948.4	37	c.1590	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.672	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	C	NM_018933		140595285	+1	no_errors	ENST00000341948	ensembl	human	known	70_37	silent	SNP	0.002	T
PCYOX1L	78991	genome.wustl.edu	37	5	148746982	148746982	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr5:148746982C>G	ENST00000274569.4	+	5	804	c.742C>G	c.(742-744)Ctg>Gtg	p.L248V	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.L158V	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	248					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAATAAGCTGGTTTGTTC	0.587											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)												0													171.0	136.0	148.0					5																	148746982		2203	4300	6503	SO:0001583	missense	78991				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.742C>G	5.37:g.148746982C>G	ENSP00000274569:p.Leu248Val	Somatic	1719	WXS	Illumina HiSeq	Phase_IV	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	p.L248V	ENST00000274569.4	37	c.742	CCDS4296.1	5	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637565	0.47049	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15718	2.4;2.4	5.67	5.67	0.87782	Prenylcysteine lyase (1);	0.075985	0.53938	D	0.000041	T	0.26919	0.0659	M	0.77313	2.365	0.52099	D	0.999944	P;P;P	0.52692	0.955;0.849;0.849	P;P;P	0.52424	0.698;0.543;0.696	T	0.10965	-1.0607	10	0.11485	T	0.65	-14.6543	7.0548	0.25093	0.1452:0.7143:0.0:0.1405	.	130;158;248	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	V	248;158	ENSP00000274569:L248V;ENSP00000428512:L158V	ENSP00000274569:L248V	L	+	1	2	PCYOX1L	148727175	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.012000	0.40932	2.677000	0.91161	0.561000	0.74099	CTG	PCYOX1L	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase		0.587	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1L	HGNC	protein_coding	OTTHUMT00000252331.2	C	NM_024028		148746982	+1	no_errors	ENST00000274569	ensembl	human	known	70_37	missense	SNP	1.000	G
PDE6C	5146	genome.wustl.edu	37	10	95372693	95372693	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr10:95372693G>A	ENST00000371447.3	+	1	349	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	71					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GACCGTGCAGGAGGAGGGGGG	0.662																																																	0													42.0	45.0	44.0					10																	95372693		2203	4300	6503	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.211G>A	10.37:g.95372693G>A	ENSP00000360502:p.Glu71Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCR6|Q5VY29	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E71K	ENST00000371447.3	37	c.211	CCDS7429.1	10	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047916	0.36085	.	.	ENSG00000095464	ENST00000371447	T	0.69806	-0.43	5.19	5.19	0.71726	.	0.178028	0.39687	N	0.001291	T	0.62109	0.2401	L	0.42245	1.32	0.27666	N	0.946906	B	0.11235	0.004	B	0.09377	0.004	T	0.55952	-0.8059	10	0.48119	T	0.1	.	18.9021	0.92446	0.0:0.0:1.0:0.0	.	71	P51160	PDE6C_HUMAN	K	71	ENSP00000360502:E71K	ENSP00000360502:E71K	E	+	1	0	PDE6C	95362683	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	5.108000	0.64609	2.709000	0.92574	0.655000	0.94253	GAG	PDE6C	-	NULL		0.662	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	G	NM_006204		95372693	+1	no_errors	ENST00000371447	ensembl	human	known	70_37	missense	SNP	1.000	A
PI4K2A	55361	genome.wustl.edu	37	10	99416696	99416696	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr10:99416696G>T	ENST00000370631.3	+	4	944	c.887G>T	c.(886-888)cGg>cTg	p.R296L	PI4K2A_ENST00000555577.1_Missense_Mutation_p.R266L|PI4K2A_ENST00000370649.3_Missense_Mutation_p.R266L	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	296	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CAGTTTGAGCGGTTGGTGGTG	0.542																																																	0													89.0	82.0	85.0					10																	99416696		2203	4300	6503	SO:0001583	missense	55361			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.887G>T	10.37:g.99416696G>T	ENSP00000359665:p.Arg296Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DR59|Q9NSG8	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom	p.R296L	ENST00000370631.3	37	c.887	CCDS7469.1	10	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271100	0.80469	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.76839	-1.05;-1.05;-1.05	5.35	5.35	0.76521	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	M	0.92738	3.34	0.80722	D	1	D;P	0.65815	0.995;0.772	D;P	0.70935	0.971;0.733	D	0.92700	0.6174	10	0.66056	D	0.02	-18.4176	19.1115	0.93318	0.0:0.0:1.0:0.0	.	266;296	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	L	266;296;266	ENSP00000452243:R266L;ENSP00000359665:R296L;ENSP00000359683:R266L	ENSP00000359665:R296L	R	+	2	0	PI4K2A;RP11-548K23.11	99406686	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.527000	0.85204	0.585000	0.79938	CGG	PI4K2A	-	pfam_PI3/4_kinase_cat_dom		0.542	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2A	HGNC	protein_coding	OTTHUMT00000049735.1	G	NM_018425		99416696	+1	no_errors	ENST00000370631	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952086	178952086	+	Missense_Mutation	SNP	T	T	G			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr3:178952086T>G	ENST00000263967.3	+	21	3298	c.3141T>G	c.(3139-3141)caT>caG	p.H1047Q	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047Q(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATGATGCACATCATGGTGGCT	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)											99.0	89.0	92.0					3																	178952086		1912	4131	6043	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3141T>G	3.37:g.178952086T>G	ENSP00000263967:p.His1047Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047Q	ENST00000263967.3	37	c.3141	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	11.72	1.723846	0.30593	.	.	ENSG00000121879	ENST00000263967	T	0.80824	-1.42	6.08	-6.31	0.02001	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	N	0.16656	0.425	0.54753	D	0.999987	B	0.18461	0.028	B	0.13407	0.009	T	0.29671	-1.0004	10	0.59425	D	0.04	-21.2893	17.663	0.88197	0.0:0.5722:0.0:0.4278	.	1047	P42336	PK3CA_HUMAN	Q	1047	ENSP00000263967:H1047Q	ENSP00000263967:H1047Q	H	+	3	2	PIK3CA	180434780	0.811000	0.29063	0.934000	0.37439	0.998000	0.95712	-0.118000	0.10692	-0.903000	0.03881	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	T			178952086	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	0.722	G
PKP2	5318	genome.wustl.edu	37	12	33030840	33030840	+	Missense_Mutation	SNP	G	G	A	rs397517030|rs201803918		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr12:33030840G>A	ENST00000070846.6	-	3	998	c.974C>T	c.(973-975)gCc>gTc	p.A325V	PKP2_ENST00000340811.4_Missense_Mutation_p.A325V	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	325					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCCCCCTGCGGCCGCCTGGCC	0.627																																																	0								G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	45.0	42.0	43.0		974,974	5.4	0.8	12		43	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PKP2	NM_001005242.2,NM_004572.3	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	325/838,325/882	33030840	2,13004	2203	4300	6503	SO:0001583	missense	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.974C>T	12.37:g.33030840G>A	ENSP00000070846:p.Ala325Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A325V	ENST00000070846.6	37	c.974	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584473	0.28268	0.0	2.33E-4	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;T	0.81659	-1.52;-1.44	5.37	5.37	0.77165	.	1.020360	0.07829	N	0.961039	T	0.80773	0.4687	L	0.59436	1.845	0.42015	D	0.990957	B;B;B	0.17268	0.021;0.012;0.012	B;B;B	0.16289	0.015;0.006;0.009	T	0.66320	-0.5953	10	0.35671	T	0.21	-5.5542	16.9233	0.86168	0.0:0.0:1.0:0.0	.	325;325;325	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	V	325	ENSP00000342800:A325V;ENSP00000070846:A325V	ENSP00000070846:A325V	A	-	2	0	PKP2	32922107	0.998000	0.40836	0.844000	0.33320	0.016000	0.09150	3.998000	0.57024	2.525000	0.85131	0.585000	0.79938	GCC	PKP2	-	NULL		0.627	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	G	NM_004572		33030840	-1	no_errors	ENST00000070846	ensembl	human	known	70_37	missense	SNP	0.985	A
RIMS4	140730	genome.wustl.edu	37	20	43386811	43386811	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr20:43386811C>T	ENST00000372851.3	-	3	317	c.251G>A	c.(250-252)gGa>gAa	p.G84E	RIMS4_ENST00000541604.2_Missense_Mutation_p.G85E	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	84					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CAGGCAAACTCCTCCATAGTT	0.562																																																	0													36.0	33.0	34.0					20																	43386811		2203	4300	6503	SO:0001583	missense	140730				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.251G>A	20.37:g.43386811C>T	ENSP00000361942:p.Gly84Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G85E	ENST00000372851.3	37	c.254	CCDS13338.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.209847	0.95069	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.20598	2.11;2.06	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.67397	2.05	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.54590	0.67;0.756	T	0.29243	-1.0018	10	0.72032	D	0.01	.	19.0638	0.93101	0.0:1.0:0.0:0.0	.	85;84	E1P613;Q9H426	.;RIMS4_HUMAN	E	84;85	ENSP00000361942:G84E;ENSP00000439287:G85E	ENSP00000361942:G84E	G	-	2	0	RIMS4	42820225	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.814000	0.86154	2.505000	0.84491	0.655000	0.94253	GGA	RIMS4	-	NULL		0.562	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RIMS4	HGNC	protein_coding	OTTHUMT00000101027.2	C	NM_182970		43386811	-1	no_errors	ENST00000541604	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF125	54941	genome.wustl.edu	37	18	29598847	29598847	+	Silent	SNP	C	C	A	rs34097443	byFrequency	TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr18:29598847C>A	ENST00000217740.3	+	1	513	c.21C>A	c.(19-21)acC>acA	p.T7T	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	7					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGCTGAGCACCGACAGCGGCA	0.692																																																	0													13.0	14.0	14.0					18																	29598847		2195	4291	6486	SO:0001819	synonymous_variant	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.21C>A	18.37:g.29598847C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NX39	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T7	ENST00000217740.3	37	c.21	CCDS11902.1	18																																																																																			RNF125	-	NULL		0.692	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	C	NM_017831		29598847	+1	no_errors	ENST00000217740	ensembl	human	known	70_37	silent	SNP	0.999	A
SLC22A18AS	5003	genome.wustl.edu	37	11	2909859	2909859	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr11:2909859G>A	ENST00000533594.1	-	4	809	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	CDKN1C_ENST00000440480.2_5'Flank|CDKN1C_ENST00000430149.2_5'Flank|SLC22A18AS_ENST00000526203.1_Missense_Mutation_p.R2W|SLC22A18AS_ENST00000455942.2_Missense_Mutation_p.R2W|CDKN1C_ENST00000380725.1_5'Flank|CDKN1C_ENST00000414822.3_5'Flank|CDKN1C_ENST00000313407.6_5'Flank	NM_007105.2	NP_009036.2	Q8N1D0	BWR1B_HUMAN	solute carrier family 22 (organic cation transporter), member 18 antisense	105										NS(1)|endometrium(2)	3						TCTGCACACCGCATTGCCTGT	0.542											OREG0020687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													37.0	40.0	39.0					11																	2909859		692	1591	2283	SO:0001583	missense	5003			AF035407	CCDS7739.1	11p15.5	2011-02-10	2005-08-23	2005-08-23	ENSG00000254827	ENSG00000254827			10965	protein-coding gene	gene with protein product		603240	"""solute carrier family 22 (organic cation transporter), member 1-like antisense"""	BWSCR1B, ORCTL2S, SLC22A1LS		9570947, 9520460, 15175115	Standard	NM_007105		Approved	BWR1B, p27-BWR1B	uc001lwv.4	Q8N1D0	OTTHUMG00000010038	ENST00000533594.1:c.313C>T	11.37:g.2909859G>A	ENSP00000433282:p.Arg105Trp	Somatic	607	WXS	Illumina HiSeq	Phase_IV	E9PLK8|O43563	Missense_Mutation	SNP	NULL	p.R105W	ENST00000533594.1	37	c.313	CCDS7739.1	11	.	.	.	.	.	.	.	.	.	.	G	9.056	0.993376	0.19043	.	.	ENSG00000254827	ENST00000533594;ENST00000526203;ENST00000455942	T;T;T	0.56776	1.03;0.44;0.44	1.57	-1.44	0.08856	.	.	.	.	.	T	0.25717	0.0626	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.16719	-1.0393	9	0.87932	D	0	.	1.4746	0.02423	0.4496:0.0:0.2396:0.3108	.	105	E9PLK8	.	W	105;2;2	ENSP00000433282:R105W;ENSP00000435592:R2W;ENSP00000434027:R2W	ENSP00000434027:R2W	R	-	1	2	SLC22A18AS	2866435	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.090000	0.15025	-0.377000	0.07930	0.313000	0.20887	CGG	SLC22A18AS	-	NULL		0.542	SLC22A18AS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A18AS	HGNC	protein_coding	OTTHUMT00000027771.3	G	NM_007105		2909859	-1	no_errors	ENST00000533594	ensembl	human	known	70_37	missense	SNP	0.000	A
SLC27A1	376497	genome.wustl.edu	37	19	17597707	17597707	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr19:17597707C>G	ENST00000252595.7	+	2	600	c.503C>G	c.(502-504)gCc>gGc	p.A168G	SLC27A1_ENST00000598424.1_5'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A168G	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	168					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAGCCCCTGGCCTTCTGCCTG	0.711																																																	0													14.0	17.0	16.0					19																	17597707		2193	4291	6484	SO:0001583	missense	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.503C>G	19.37:g.17597707C>G	ENSP00000252595:p.Ala168Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIH2|B7Z662	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A168G	ENST00000252595.7	37	c.503	CCDS32953.1	19	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537781	0.27475	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.48201	0.82;0.82	4.92	1.52	0.23074	AMP-dependent synthetase/ligase (1);	0.369036	0.29080	N	0.013217	T	0.49508	0.1561	M	0.82323	2.585	0.09310	N	0.999999	B	0.26602	0.154	B	0.36186	0.219	T	0.50792	-0.8786	10	0.52906	T	0.07	.	4.3448	0.11127	0.1557:0.5756:0.0:0.2686	.	168	Q6PCB7	S27A1_HUMAN	G	168;168;30	ENSP00000413424:A168G;ENSP00000252595:A168G	ENSP00000252595:A168G	A	+	2	0	SLC27A1	17458707	0.001000	0.12720	0.931000	0.37212	0.603000	0.37013	1.040000	0.30278	0.490000	0.27771	0.561000	0.74099	GCC	SLC27A1	-	pfam_AMP-dep_Synth/Lig		0.711	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A1	HGNC	protein_coding	OTTHUMT00000464145.1	C	NM_198580		17597707	+1	no_errors	ENST00000252595	ensembl	human	known	70_37	missense	SNP	0.029	G
SLC41A1	254428	genome.wustl.edu	37	1	205768158	205768158	+	Silent	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr1:205768158G>A	ENST00000367137.3	-	5	1638	c.624C>T	c.(622-624)caC>caT	p.H208H	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	208					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAATACTGAAGTGGCCATCAG	0.597																																																	0													65.0	62.0	63.0					1																	205768158		2203	4300	6503	SO:0001819	synonymous_variant	254428			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.624C>T	1.37:g.205768158G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	pfam_MgtE_Mg_transptr_membr	p.H208	ENST00000367137.3	37	c.624	CCDS30988.1	1																																																																																			SLC41A1	-	pfam_MgtE_Mg_transptr_membr		0.597	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	G			205768158	-1	no_errors	ENST00000367137	ensembl	human	known	70_37	silent	SNP	1.000	A
SLITRK6	84189	genome.wustl.edu	37	13	86368987	86368987	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr13:86368987C>T	ENST00000400286.2	-	2	2255	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	553	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTTTTTGTCGAGATGCCCG	0.458																																																	0													99.0	99.0	99.0					13																	86368987		1933	4130	6063	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1657G>A	13.37:g.86368987C>T	ENSP00000383143:p.Asp553Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D553N	ENST00000400286.2	37	c.1657	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	0.897	-0.723689	0.03158	.	.	ENSG00000184564	ENST00000400286	T	0.02369	4.32	5.93	-1.22	0.09494	Cysteine-rich flanking region, C-terminal (1);	0.678779	0.13916	U	0.353868	T	0.01765	0.0056	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44952	-0.9294	10	0.32370	T	0.25	-0.3269	6.7726	0.23602	0.0:0.2843:0.2233:0.4924	.	553	Q9H5Y7	SLIK6_HUMAN	N	553	ENSP00000383143:D553N	ENSP00000383143:D553N	D	-	1	0	SLITRK6	85266988	0.017000	0.18338	0.000000	0.03702	0.174000	0.22865	1.266000	0.33039	-0.661000	0.05345	-0.794000	0.03295	GAC	SLITRK6	-	smart_Cys-rich_flank_reg_C		0.458	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	C	NM_032229		86368987	-1	no_errors	ENST00000400286	ensembl	human	known	70_37	missense	SNP	0.000	T
SPATC1	375686	genome.wustl.edu	37	8	145094844	145094844	+	Silent	SNP	C	C	T	rs371082575		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:145094844C>T	ENST00000377470.3	+	2	348	c.246C>T	c.(244-246)aaC>aaT	p.N82N	SPATC1_ENST00000447830.2_Silent_p.N82N	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	82						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGTGGCAAACGAACGAGTCC	0.642																																																	0													76.0	82.0	80.0					8																	145094844		2203	4300	6503	SO:0001819	synonymous_variant	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.246C>T	8.37:g.145094844C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	NULL	p.N82	ENST00000377470.3	37	c.246	CCDS6413.2	8																																																																																			SPATC1	-	NULL		0.642	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1	C	NM_198572		145094844	+1	no_errors	ENST00000377470	ensembl	human	known	70_37	silent	SNP	0.000	T
STAC2	342667	genome.wustl.edu	37	17	37369376	37369376	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr17:37369376C>A	ENST00000333461.5	-	10	1372	c.1003G>T	c.(1003-1005)Ggc>Tgc	p.G335C		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	335	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						ACCCGGTCGCCGATCTTGCCC	0.612																																																	0													50.0	54.0	52.0					17																	37369376		2203	4300	6503	SO:0001583	missense	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1003G>T	17.37:g.37369376C>A	ENSP00000327509:p.Gly335Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MA3	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.G335C	ENST00000333461.5	37	c.1003	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	c	16.49	3.137002	0.56936	.	.	ENSG00000141750	ENST00000333461	D	0.85702	-2.02	5.15	5.15	0.70609	Src homology-3 domain (5);	0.055536	0.64402	D	0.000001	D	0.92612	0.7653	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93484	0.6830	10	0.72032	D	0.01	0.1024	17.3884	0.87423	0.0:1.0:0.0:0.0	.	335	Q6ZMT1	STAC2_HUMAN	C	335	ENSP00000327509:G335C	ENSP00000327509:G335C	G	-	1	0	STAC2	34622902	0.866000	0.29940	0.702000	0.30337	0.010000	0.07245	5.112000	0.64634	2.405000	0.81733	0.462000	0.41574	GGC	STAC2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox		0.612	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	C	NM_198993		37369376	-1	no_errors	ENST00000333461	ensembl	human	known	70_37	missense	SNP	0.993	A
TMEM63B	55362	genome.wustl.edu	37	6	44120421	44120421	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr6:44120421T>C	ENST00000259746.9	+	20	2111	c.1928T>C	c.(1927-1929)aTc>aCc	p.I643T	TMEM63B_ENST00000323267.6_Missense_Mutation_p.I643T			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	643					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ACCTGCCCCATCATCGTGCCC	0.652											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													149.0	115.0	126.0					6																	44120421		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1928T>C	6.37:g.44120421T>C	ENSP00000259746:p.Ile643Thr	Somatic	921	WXS	Illumina HiSeq	Phase_IV	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.I643T	ENST00000259746.9	37	c.1928	CCDS34461.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.118978|4.118978	0.77323|0.77323	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000323267|ENST00000371893	T;T|.	0.35236|.	1.32;1.32|.	4.63|4.63	4.63|4.63	0.57726|0.57726	Domain of unknown function DUF221 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70360|0.70360	0.3215|0.3215	M|M	0.83953|0.83953	2.67|2.67	0.54753|0.54753	D|D	0.999988|0.999988	P|.	0.39003|.	0.654|.	P|.	0.49252|.	0.604|.	T|T	0.74337|0.74337	-0.3698|-0.3698	10|5	0.87932|.	D|.	0|.	.|.	13.3662|13.3662	0.60684|0.60684	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	643|.	Q5T3F8|.	TM63B_HUMAN|.	T|P	643|572	ENSP00000259746:I643T;ENSP00000327154:I643T|.	ENSP00000259746:I643T|.	I|S	+|+	2|1	0|0	TMEM63B|TMEM63B	44228399|44228399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.868000|7.868000	0.87116|0.87116	1.960000|1.960000	0.56953|0.56953	0.379000|0.379000	0.24179|0.24179	ATC|TCA	TMEM63B	-	pfam_DUF221		0.652	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	T	XM_166410		44120421	+1	no_errors	ENST00000259746	ensembl	human	known	70_37	missense	SNP	1.000	C
TNFAIP3	7128	genome.wustl.edu	37	6	138202276	138202276	+	Missense_Mutation	SNP	G	G	T	rs566459368		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr6:138202276G>T	ENST00000237289.4	+	9	2259	c.2193G>T	c.(2191-2193)gaG>gaT	p.E731D		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	731	Interaction with TNIP1. {ECO:0000250}.|Required for lysosomal localization and for TRAF2 lysosomal degradation.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCAGCGAGGAGCTCTGCATGG	0.682			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											46.0	53.0	51.0					6																	138202276		2203	4300	6503	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2193G>T	6.37:g.138202276G>T	ENSP00000237289:p.Glu731Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.E731D	ENST00000237289.4	37	c.2193	CCDS5187.1	6	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966781	0.34659	.	.	ENSG00000118503	ENST00000237289;ENST00000535574	T	0.42900	0.96	5.67	-11.3	0.00108	Zinc finger, A20-type (3);	0.107790	0.64402	D	0.000005	T	0.12220	0.0297	L	0.49350	1.555	0.27643	N	0.947666	B	0.21309	0.054	B	0.20955	0.032	T	0.31888	-0.9927	10	0.14656	T	0.56	-16.437	17.4521	0.87595	0.2283:0.0841:0.6876:0.0	.	731	P21580	TNAP3_HUMAN	D	731	ENSP00000237289:E731D	ENSP00000237289:E731D	E	+	3	2	TNFAIP3	138243969	0.020000	0.18652	0.683000	0.30040	0.917000	0.54804	-0.843000	0.04350	-1.940000	0.01043	-0.635000	0.03985	GAG	TNFAIP3	-	pfam_Znf_A20,smart_Znf_A20		0.682	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	G			138202276	+1	no_errors	ENST00000237289	ensembl	human	known	70_37	missense	SNP	0.091	T
TNKS2	80351	genome.wustl.edu	37	10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.N622fs	ENST00000371627.4	37	c.1856_1857	CCDS7417.1	10																																																																																			TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	-	NM_025235		93601946	+1	no_errors	ENST00000371627	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.997	A
USP10	9100	genome.wustl.edu	37	16	84778704	84778704	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr16:84778704C>T	ENST00000219473.7	+	4	730	c.617C>T	c.(616-618)cCc>cTc	p.P206L	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.P210L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	206					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TCAGTTACGCCCAGGACTTGT	0.557																																																	0													28.0	28.0	28.0					16																	84778704		1977	4158	6135	SO:0001583	missense	9100			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.617C>T	16.37:g.84778704C>T	ENSP00000219473:p.Pro206Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19	p.P210L	ENST00000219473.7	37	c.629	CCDS45537.1	16	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746738	0.69418	.	.	ENSG00000103194	ENST00000219473	T	0.07688	3.17	5.17	4.22	0.49857	.	0.942527	0.09033	N	0.858471	T	0.20333	0.0489	M	0.67953	2.075	0.53688	D	0.999972	P;P	0.51240	0.943;0.905	P;P	0.50825	0.651;0.449	T	0.00915	-1.1516	10	0.87932	D	0	-3.5728	12.8339	0.57761	0.0:0.921:0.0:0.079	.	210;206	Q14694-3;Q14694	.;UBP10_HUMAN	L	206	ENSP00000219473:P206L	ENSP00000219473:P206L	P	+	2	0	USP10	83336205	0.004000	0.15560	0.905000	0.35620	0.938000	0.57974	2.005000	0.40864	1.179000	0.42884	0.491000	0.48974	CCC	USP10	-	NULL		0.557	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	C			84778704	+1	no_errors	ENST00000570191	ensembl	human	known	70_37	missense	SNP	0.999	T
USP20	10868	genome.wustl.edu	37	9	132637870	132637870	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr9:132637870C>A	ENST00000315480.4	+	21	2408	c.2250C>A	c.(2248-2250)gaC>gaA	p.D750E	USP20_ENST00000372429.3_Missense_Mutation_p.D750E|USP20_ENST00000358355.1_Missense_Mutation_p.D750E			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	750	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACTACATCGACGACCTGGTGG	0.632																																																	0													105.0	109.0	108.0					9																	132637870		2024	4169	6193	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2250C>A	9.37:g.132637870C>A	ENSP00000313811:p.Asp750Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.D750E	ENST00000315480.4	37	c.2250	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003586	0.35320	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.16457	2.34;2.34;2.34	5.47	-2.49	0.06403	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.047215	0.85682	D	0.000000	T	0.10895	0.0266	N	0.25201	0.72	0.49389	D	0.999784	D	0.55800	0.973	P	0.47251	0.542	T	0.18116	-1.0347	10	0.07990	T	0.79	.	12.6946	0.56997	0.0:0.1772:0.0:0.8228	.	750	Q9Y2K6	UBP20_HUMAN	E	750	ENSP00000361506:D750E;ENSP00000313811:D750E;ENSP00000351122:D750E	ENSP00000313811:D750E	D	+	3	2	USP20	131677691	0.079000	0.21365	0.975000	0.42487	0.928000	0.56348	-0.591000	0.05753	-0.550000	0.06183	-0.258000	0.10820	GAC	USP20	-	smart_Pept_C19_DUSP		0.632	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	C			132637870	+1	no_errors	ENST00000315480	ensembl	human	known	70_37	missense	SNP	0.997	A
VPS36	51028	genome.wustl.edu	37	13	52999941	52999942	+	Intron	INS	-	-	A	rs373315037|rs371686906		TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr13:52999941_52999942insA	ENST00000378060.4	-	9	802					NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		ATACCTGAAAGAAAAAAAAAAC	0.233																																																	0																																										SO:0001627	intron_variant	51028			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.774+124->T	13.37:g.52999951_52999951dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	RNA	INS	-	NULL	ENST00000378060.4	37	NULL	CCDS9434.1	13																																																																																			VPS36	-	-		0.233	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS36	HGNC	protein_coding	OTTHUMT00000045059.3	-			52999942	-1	no_errors	ENST00000492650	ensembl	human	known	70_37	rna	INS	0.003:0.001	A
YTHDF3	253943	genome.wustl.edu	37	8	64122717	64122717	+	3'UTR	SNP	A	A	G			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr8:64122717A>G	ENST00000517371.1	+	0	836				YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_3'UTR|YTHDF3_ENST00000539294.1_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AAAGCAAAATAATCATGCCAT	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	253943			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*453A>G	8.37:g.64122717A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-		0.294	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4	A	NM_152758		64122717	+1	no_errors	ENST00000339066	ensembl	human	known	70_37	rna	SNP	1.000	G
ZNF112	7771	genome.wustl.edu	37	19	44831989	44831989	+	Missense_Mutation	SNP	T	T	A	rs2609881	byFrequency	TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr19:44831989T>A	ENST00000337401.4	-	5	2427	c.2339A>T	c.(2338-2340)gAg>gTg	p.E780V	ZNF112_ENST00000536500.1_Missense_Mutation_p.E797V|ZNF112_ENST00000354340.4_Missense_Mutation_p.E774V	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	780			E -> A (in dbSNP:rs2609881).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTACACACCTCACATTTGTA	0.478																																																	0													224.0	211.0	215.0					19																	44831989		2203	4300	6503	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2339A>T	19.37:g.44831989T>A	ENSP00000337081:p.Glu780Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU53|Q9HCA7	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.E797V	ENST00000337401.4	37	c.2390	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597764	0.28445	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.07800	3.16;3.16;3.16	5.18	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240848	0.21440	N	0.074510	T	0.08626	0.0214	L	0.52206	1.635	0.80722	P	0.0	P;B;B	0.34864	0.473;0.418;0.326	B;B;B	0.35182	0.197;0.124;0.197	T	0.13019	-1.0525	9	0.37606	T	0.19	-4.5387	9.0429	0.36329	0.1285:0.0:0.5287:0.3428	.	779;797;780	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	V	780;780;774;797;779	ENSP00000337081:E780V;ENSP00000346305:E774V;ENSP00000441990:E797V	ENSP00000253426:E779V	E	-	2	0	ZNF285	49523829	0.000000	0.05858	0.181000	0.23098	0.976000	0.68499	-1.254000	0.02874	0.019000	0.15079	0.460000	0.39030	GAG	ZFP112	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	T	NM_013380		44831989	-1	no_errors	ENST00000536500	ensembl	human	known	70_37	missense	SNP	0.000	A
ZC3H4	23211	genome.wustl.edu	37	19	47597687	47597687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr19:47597687C>A	ENST00000253048.5	-	3	377	c.340G>T	c.(340-342)Gag>Tag	p.E114*	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	114							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTCCTTTTCTCTTTCTCCCGC	0.552																																																	0													330.0	344.0	339.0					19																	47597687		1946	4129	6075	SO:0001587	stop_gained	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.340G>T	19.37:g.47597687C>A	ENSP00000253048:p.Glu114*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y420	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E114*	ENST00000253048.5	37	c.340	CCDS42582.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.378455	0.97520	.	.	ENSG00000130749	ENST00000253048	.	.	.	6.05	5.0	0.66597	.	0.225342	0.38959	N	0.001513	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	15.4557	0.75311	0.1401:0.8599:0.0:0.0	.	.	.	.	X	114	.	ENSP00000253048:E114X	E	-	1	0	ZC3H4	52289527	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.440000	0.59975	1.519000	0.48950	0.650000	0.86243	GAG	ZC3H4	-	NULL		0.552	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZC3H4	HGNC	protein_coding	OTTHUMT00000466667.1	C			47597687	-1	no_errors	ENST00000253048	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZNF37A	7587	genome.wustl.edu	37	10	38407121	38407121	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr10:38407121A>G	ENST00000361085.5	+	7	1387	c.1042A>G	c.(1042-1044)Acg>Gcg	p.T348A	ZNF37A_ENST00000351773.3_Missense_Mutation_p.T348A	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ACATCAAAGAACGCACACAGG	0.408																																																	0													97.0	100.0	99.0					10																	38407121		2203	4300	6503	SO:0001583	missense	7587			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1042A>G	10.37:g.38407121A>G	ENSP00000354377:p.Thr348Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRQ3|D3DRZ3|Q96B88	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.T348A	ENST00000361085.5	37	c.1042	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052844	0.55218	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.00966	5.49;5.49	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	L	0.51853	1.615	0.22827	N	0.998688	B	0.26809	0.16	B	0.26517	0.07	T	0.41627	-0.9498	9	0.87932	D	0	.	8.2277	0.31579	1.0:0.0:0.0:0.0	.	348	P17032	ZN37A_HUMAN	A	348	ENSP00000329141:T348A;ENSP00000354377:T348A	ENSP00000329141:T348A	T	+	1	0	ZNF37A	38447127	0.000000	0.05858	0.860000	0.33809	0.982000	0.71751	1.090000	0.30902	1.082000	0.41137	0.482000	0.46254	ACG	ZNF37A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	A	NM_003421		38407121	+1	no_errors	ENST00000351773	ensembl	human	known	70_37	missense	SNP	0.742	G
ZNF541	84215	genome.wustl.edu	37	19	48052515	48052515	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A7WF-01A-11D-A351-09	TCGA-DS-A7WF-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1330e345-c054-4afb-b8b4-ba2bf6615772	06845338-4ebd-46d8-8392-097e6b77dfde	g.chr19:48052515G>A	ENST00000391901.3	-	2	534	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	ZNF541_ENST00000314121.4_Missense_Mutation_p.R179C|ZNF541_ENST00000448976.1_Missense_Mutation_p.R179C			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	179					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						TGGTCCTGGCGCTTAAAGGCC	0.552																																																	0													138.0	112.0	120.0					19																	48052515		692	1591	2283	SO:0001583	missense	84215			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.535C>T	19.37:g.48052515G>A	ENSP00000375770:p.Arg179Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDK8	Missense_Mutation	SNP	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.R179C	ENST00000391901.3	37	c.535		19	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837842	0.71373	.	.	ENSG00000118156	ENST00000391901;ENST00000314121;ENST00000448976	T;T;T	0.07567	3.18;3.18;3.18	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24198	0.0586	L	0.46567	1.45	0.48511	D	0.99966	D	0.89917	1.0	D	0.85130	0.997	T	0.00065	-1.2148	9	0.72032	D	0.01	-24.6925	16.7703	0.85535	0.0:0.0:1.0:0.0	.	179	Q9H0D2	ZN541_HUMAN	C	179	ENSP00000375770:R179C;ENSP00000313258:R179C;ENSP00000410847:R179C	ENSP00000313258:R179C	R	-	1	0	ZNF541	52744327	1.000000	0.71417	0.996000	0.52242	0.664000	0.39144	2.902000	0.48703	2.694000	0.91930	0.557000	0.71058	CGC	ZNF541	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	G	NM_032255		48052515	-1	no_errors	ENST00000314121	ensembl	human	known	70_37	missense	SNP	1.000	A
