#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_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABHD8	79575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17405546	17405546	+	Silent	SNP	G	G	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr19:17405546G>T	ENST00000247706.3	-	3	1109	c.870C>A	c.(868-870)atC>atA	p.I290I	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	290							hydrolase activity (GO:0016787)	p.I290I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCATGTTGAAGATTGAGCAGA	0.597																																					Ovarian(156;1368 2543 15275 41187)												1	Substitution - coding silent(1)	kidney(1)											94.0	74.0	81.0					19																	17405546		2203	4300	6503	SO:0001819	synonymous_variant	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.870C>A	19.37:g.17405546G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9HAE9	Silent	SNP	ENST00000247706.3	37	CCDS12355.1																																																																																				0.597	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1		NM_024527	
MARCH1	55016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	165118171	165118172	+	Intron	INS	-	-	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr4:165118171_165118172insT	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				attttcgcttctgacccctttc	0.421																																																	0																																										SO:0001627	intron_variant	23520			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85357->A	4.37:g.165118172_165118172dupT		Somatic		WXS	Illumina HiSeq	Phase_I	D3DP29|Q9NWR0	Frame_Shift_Ins	INS	ENST00000503008.1	37	CCDS54814.1																																																																																				0.421	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2		NM_017923	
ARF6	382	broad.mit.edu;hgsc.bcm.edu	37	14	50360965	50360965	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr14:50360965T>A	ENST00000298316.5	+	2	1058	c.511T>A	c.(511-513)Tct>Act	p.S171T		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	171					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)	p.S171T(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					ATGGTTAACCTCTAACTACAA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											20.0	20.0	20.0					14																	50360965		2200	4297	6497	SO:0001583	missense	382				CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"""ADP-ribosylation factors"""	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.511T>A	14.37:g.50360965T>A	ENSP00000298316:p.Ser171Thr	Somatic		WXS	Illumina HiSeq	Phase_I	P26438|Q6FGZ2	Missense_Mutation	SNP	ENST00000298316.5	37	CCDS9695.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.851773	0.32699	.	.	ENSG00000165527	ENST00000298316	D	0.82711	-1.64	4.8	4.8	0.61643	.	0.059478	0.64402	D	0.000001	T	0.73233	0.3561	N	0.21545	0.675	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68845	-0.5301	10	0.40728	T	0.16	-1.3956	14.3555	0.66735	0.0:0.0:0.0:1.0	.	171	P62330	ARF6_HUMAN	T	171	ENSP00000298316:S171T	ENSP00000298316:S171T	S	+	1	0	ARF6	49430715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.011000	0.88624	1.793000	0.52555	0.402000	0.26972	TCT		0.502	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276883.1		NM_001663	
ASB8	140461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48543458	48543458	+	Silent	SNP	T	T	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr12:48543458T>C	ENST00000317697.3	-	4	727	c.558A>G	c.(556-558)acA>acG	p.T186T	ASB8_ENST00000536549.1_Silent_p.T186T|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	186					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.T186T(1)		breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGGAGATGGGTGTCTGGCCTA	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	64.0	64.0					12																	48543458		2203	4300	6503	SO:0001819	synonymous_variant	140461			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.558A>G	12.37:g.48543458T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1P2|Q547Q2	Silent	SNP	ENST00000317697.3	37	CCDS8761.1																																																																																				0.532	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			
ASTN2	23245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	119413893	119413893	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr9:119413893C>G	ENST00000313400.4	-	17	3086	c.2986G>C	c.(2986-2988)Gag>Cag	p.E996Q	ASTN2_ENST00000361209.2_Missense_Mutation_p.E945Q|ASTN2_ENST00000361477.3_Missense_Mutation_p.E48Q|ASTN2_ENST00000373996.3_Missense_Mutation_p.E992Q|ASTN2_ENST00000358637.4_Missense_Mutation_p.E48Q|ASTN2_ENST00000288520.5_Missense_Mutation_p.E97Q|ASTN2_ENST00000341734.4_Missense_Mutation_p.E48Q			O75129	ASTN2_HUMAN	astrotactin 2	996					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.E945Q(1)|p.E48Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTCAGCTGCTCCTTGCCTGGC	0.572																																																	2	Substitution - Missense(2)	kidney(2)											90.0	77.0	81.0					9																	119413893		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2986G>C	9.37:g.119413893C>G	ENSP00000314038:p.Glu996Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	19.54	3.845920	0.71603	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477;ENST00000358637	T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.48	5.48	0.80851	Membrane attack complex component/perforin (MACPF) domain (1);	0.053045	0.64402	D	0.000001	T	0.53610	0.1807	L	0.38531	1.155	0.58432	D	0.999998	D;D;B;D;D;P;D;D	0.64830	0.988;0.994;0.19;0.991;0.992;0.551;0.994;0.994	P;D;B;P;P;B;D;P	0.62955	0.783;0.909;0.076;0.805;0.778;0.23;0.909;0.783	T	0.44997	-0.9291	9	.	.	.	-25.4431	18.9448	0.92618	0.0:1.0:0.0:0.0	.	48;48;719;945;996;992;48;97	B7ZKP4;B7ZKP5;A2A2T8;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;.;ASTN2_HUMAN;.;.;.	Q	996;992;97;48;719;945;48;48	ENSP00000314038:E996Q;ENSP00000363108:E992Q;ENSP00000288520:E97Q;ENSP00000339925:E48Q;ENSP00000363098:E719Q;ENSP00000354504:E945Q;ENSP00000355116:E48Q;ENSP00000351460:E48Q	.	E	-	1	0	ASTN2	118453714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.631000	0.74277	2.578000	0.87016	0.650000	0.86243	GAG		0.572	ASTN2-201	KNOWN	basic	protein_coding	protein_coding			NM_014010	
ATP2A1	487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28898565	28898565	+	Silent	SNP	C	C	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr16:28898565C>A	ENST00000357084.3	+	7	867	c.600C>A	c.(598-600)gtC>gtA	p.V200V	ATP2A1_ENST00000395503.4_Silent_p.V200V|ATP2A1_ENST00000536376.1_Silent_p.V75V	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	200					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.V200V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCCGAGCTGTCAACCAGGACA	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	103.0	104.0					16																	28898565		2197	4300	6497	SO:0001819	synonymous_variant	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.600C>A	16.37:g.28898565C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	CCDS10643.1																																																																																				0.557	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2		NM_004320	
BTNL8	79908	hgsc.bcm.edu	37	5	180376249	180376249	+	Silent	SNP	C	C	T	rs149566660	byFrequency	TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr5:180376249C>T	ENST00000340184.4	+	7	1052	c.846C>T	c.(844-846)gaC>gaT	p.D282D	BTNL8_ENST00000508408.1_Missense_Mutation_p.R319C|BTNL8_ENST00000511704.1_Silent_p.D166D|BTNL8_ENST00000533815.2_Silent_p.D98D|BTNL8_ENST00000505126.1_Silent_p.D75D|BTNL8_ENST00000400707.3_Silent_p.D157D|BTNL8_ENST00000231229.4_Missense_Mutation_p.R326C	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	282	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATTGAGAGACGCCCGGAAAC	0.557													C|||	241	0.048123	0.1747	0.0144	5008	,	,		13365	0.0		0.0	False		,,,				2504	0.0																0								C	,,CYS/ARG,,,CYS/ARG	624,3704		98,428,1638	54.0	66.0	62.0		846,498,955,471,294,976	-2.7	0.0	5	dbSNP_134	62	4,7908		1,2,3953	yes	coding-synonymous,coding-synonymous,missense,coding-synonymous,coding-synonymous,missense	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	,,180,,,180	99,430,5591	TT,TC,CC		0.0506,14.4177,5.1307	,,,,,	282/501,166/385,319/341,157/376,98/317,326/348	180376249	628,11612	2164	3956	6120	SO:0001819	synonymous_variant	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.846C>T	5.37:g.180376249C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	71	0.03250915750915751	67	0.13617886178861788	4	0.011049723756906077	0	0.0	0	0.0	C	2.500	-0.315360	0.05422	0.144177	5.06E-4	ENSG00000113303	ENST00000231229;ENST00000508408	T;T	0.02121	4.44;4.46	1.36	-2.72	0.05968	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42464	-0.9450	7	0.87932	D	0	.	4.726	0.12941	0.0:0.1929:0.2407:0.5664	.	319;326	F2Z2B2;A6NEX6	.;.	C	326;319	ENSP00000231229:R326C;ENSP00000424585:R319C	ENSP00000231229:R326C	R	+	1	0	BTNL8	180308855	0.002000	0.14202	0.005000	0.12908	0.411000	0.31082	-1.344000	0.02639	-2.460000	0.00537	-1.977000	0.00459	CGC		0.557	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1		NM_024850	
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201079330	201079330	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr1:201079330T>G	ENST00000362061.3	-	2	446	c.220A>C	c.(220-222)Atg>Ctg	p.M74L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.M74L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	74					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.M74L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTTCCGGCATGGGCAGGTAC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											162.0	129.0	140.0					1																	201079330		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.220A>C	1.37:g.201079330T>G	ENSP00000355192:p.Met74Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	T	9.096	1.003043	0.19121	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97114	-4.25;-4.25	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.95601	0.8570	N	0.26092	0.79	0.45580	D	0.998529	P	0.51933	0.949	P	0.57502	0.822	D	0.93642	0.6965	10	0.10902	T	0.67	.	14.4134	0.67132	0.0:0.0:0.0:1.0	.	74	Q13698	CAC1S_HUMAN	L	74	ENSP00000355192:M74L;ENSP00000356307:M74L	ENSP00000355192:M74L	M	-	1	0	CACNA1S	199345953	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.697000	0.61782	1.934000	0.56057	0.459000	0.35465	ATG		0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069	
CACNB4	785	broad.mit.edu;hgsc.bcm.edu	37	2	152709962	152709962	+	Splice_Site	SNP	T	T	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr2:152709962T>C	ENST00000539935.1	-	12	1183	c.1116A>G	c.(1114-1116)ccA>ccG	p.P372P	CACNB4_ENST00000427385.1_Splice_Site_p.P354P|CACNB4_ENST00000534999.1_Splice_Site_p.P338P|CACNB4_ENST00000201943.5_Splice_Site_p.P372P|CACNB4_ENST00000397327.2_Splice_Site_p.P325P|CACNB4_ENST00000360283.6_Splice_Site_p.P339P	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	372					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.P372P(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCATACTTACTGGGGGGCATT	0.358																																																	2	Substitution - coding silent(2)	kidney(2)											73.0	68.0	70.0					2																	152709962		1851	4095	5946	SO:0001630	splice_region_variant	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1116+1A>G	2.37:g.152709962T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	37	CCDS46426.1																																																																																				0.358	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4		NM_000726.3	Silent
CCDC82	79780	broad.mit.edu;ucsc.edu	37	11	96092231	96092231	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr11:96092231C>T	ENST00000278520.5	-	8	1920	c.1492G>A	c.(1492-1494)Gtt>Att	p.V498I	CCDC82_ENST00000423339.2_Missense_Mutation_p.V498I|CCDC82_ENST00000542662.1_Missense_Mutation_p.V498I			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	498								p.V498I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCATCTTCAACTTCTTCTGTC	0.353																																																	1	Substitution - Missense(1)	kidney(1)											181.0	176.0	178.0					11																	96092231		2200	4298	6498	SO:0001583	missense	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1492G>A	11.37:g.96092231C>T	ENSP00000278520:p.Val498Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653173	0.14580	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.24350	1.86;1.86;1.86	5.78	2.79	0.32731	.	0.730538	0.13159	N	0.409253	T	0.13372	0.0324	L	0.29908	0.895	0.09310	N	1	B	0.18741	0.03	B	0.15870	0.014	T	0.30446	-0.9978	10	0.12766	T	0.61	-2.0087	1.529	0.02531	0.1736:0.4407:0.2029:0.1828	.	498	Q8N4S0	CCD82_HUMAN	I	498	ENSP00000278520:V498I;ENSP00000444010:V498I;ENSP00000397156:V498I	ENSP00000278520:V498I	V	-	1	0	CCDC82	95731879	0.000000	0.05858	0.028000	0.17463	0.769000	0.43574	-0.057000	0.11768	0.839000	0.34971	0.655000	0.94253	GTT		0.353	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2		NM_024725	
CDAN1	146059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43026449	43026449	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr15:43026449G>C	ENST00000356231.3	-	7	1255	c.1232C>G	c.(1231-1233)gCt>gGt	p.A411G		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	411					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A411G(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTCATAGGCAGCTCGAAGGCG	0.552																																																	1	Substitution - Missense(1)	kidney(1)											80.0	76.0	78.0					15																	43026449		2203	4299	6502	SO:0001583	missense	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1232C>G	15.37:g.43026449G>C	ENSP00000348564:p.Ala411Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216164	0.39201	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87103	-2.21	5.44	4.44	0.53790	.	0.395476	0.26753	N	0.022668	D	0.82416	0.5032	L	0.40543	1.245	0.29634	N	0.84522	B	0.32467	0.372	B	0.33392	0.163	T	0.79047	-0.1963	10	0.38643	T	0.18	-8.3488	15.2223	0.73320	0.0:0.0:0.7878:0.2122	.	411	Q8IWY9	CDAN1_HUMAN	G	411;409	ENSP00000348564:A411G	ENSP00000267892:A409G	A	-	2	0	CDAN1	40813741	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	2.521000	0.45563	2.553000	0.86117	0.563000	0.77884	GCT		0.552	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1		XM_085300	
CHD8	57680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21875113	21875113	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr14:21875113G>C	ENST00000557364.1	-	14	3072	c.2809C>G	c.(2809-2811)Ctt>Gtt	p.L937V	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.L658V|CHD8_ENST00000399982.2_Missense_Mutation_p.L937V			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	937	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.L937V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATTTCACGAAGCTCAGGACAA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											74.0	68.0	70.0					14																	21875113		1969	4151	6120	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2809C>G	14.37:g.21875113G>C	ENSP00000451601:p.Leu937Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.419030|4.419030	0.83559|0.83559	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.94046	.|-3.34;-3.34;-3.34	5.41|5.41	5.41|5.41	0.78517|0.78517	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97324|0.97324	0.9125|0.9125	M|M	0.90650|0.90650	3.135|3.135	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|0.995;1.0	.|D;D	.|0.80764	.|0.955;0.994	D|D	0.97777|0.97777	1.0230|1.0230	5|10	.|0.87932	.|D	.|0	-17.1973|-17.1973	18.1343|18.1343	0.89612|0.89612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|937;658	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	G|V	162|658;937;657;937	.|ENSP00000406288:L658V;ENSP00000382863:L937V;ENSP00000451601:L937V	.|ENSP00000262707:L657V	A|L	-|-	2|1	0|0	CHD8|CHD8	20944953|20944953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.400000|3.400000	0.52594|0.52594	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	GCT|CTT		0.453	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1		NM_020920	
CLN8	2055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	1728612	1728612	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr8:1728612C>T	ENST00000331222.4	+	3	987	c.740C>T	c.(739-741)cCa>cTa	p.P247L	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	247	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.P247L(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		ATCATTAATCCATATTGGACC	0.537																																					Pancreas(155;338 1942 6138 10888 50612)												2	Substitution - Missense(2)	kidney(2)											176.0	147.0	157.0					8																	1728612		2203	4300	6503	SO:0001583	missense	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.740C>T	8.37:g.1728612C>T	ENSP00000328182:p.Pro247Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477210	0.63849	.	.	ENSG00000182372	ENST00000331222	D	0.81579	-1.51	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.64402	U	0.000014	D	0.87928	0.6301	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84102	0.0396	10	0.06494	T	0.89	-3.7903	18.6661	0.91491	0.0:1.0:0.0:0.0	.	247	Q9UBY8	CLN8_HUMAN	L	247	ENSP00000328182:P247L	ENSP00000328182:P247L	P	+	2	0	CLN8	1716019	1.000000	0.71417	0.192000	0.23308	0.005000	0.04900	7.281000	0.78621	2.400000	0.81607	0.650000	0.86243	CCA		0.537	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2		NM_018941	
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56483775	56483775	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr6:56483775G>A	ENST00000370765.6	-	23	5164	c.5057C>T	c.(5056-5058)gCg>gTg	p.A1686V	DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	3756					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A1686V(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTCAGTTCCGCATTCAGATT	0.393																																																	2	Substitution - Missense(2)	kidney(2)											119.0	126.0	123.0					6																	56483775		2202	4300	6502	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5057C>T	6.37:g.56483775G>A	ENSP00000359801:p.Ala1686Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487794	0.26686	.	.	ENSG00000151914	ENST00000370765	T	0.32753	1.44	5.35	5.35	0.76521	.	.	.	.	.	T	0.11750	0.0286	.	.	.	0.09310	N	0.999993	P	0.46859	0.885	B	0.31290	0.127	T	0.09185	-1.0686	7	0.40728	T	0.16	.	15.7739	0.78193	0.0:0.1363:0.8637:0.0	.	1686	Q03001-3	.	V	1686	ENSP00000359801:A1686V	ENSP00000359801:A1686V	A	-	2	0	DST	56591734	0.984000	0.35163	0.146000	0.22360	0.100000	0.18952	4.357000	0.59436	2.661000	0.90470	0.650000	0.86243	GCG		0.393	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2		NM_001723	
EVPL	2125	broad.mit.edu;hgsc.bcm.edu	37	17	74018281	74018281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr17:74018281G>A	ENST00000301607.3	-	6	887	c.634C>T	c.(634-636)Cga>Tga	p.R212*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.R212*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	212	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.R212*(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGTAGGTCTCGGTATTGGCTC	0.697																																																	1	Substitution - Nonsense(1)	kidney(1)											27.0	30.0	29.0					17																	74018281		2202	4299	6501	SO:0001587	stop_gained	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.634C>T	17.37:g.74018281G>A	ENSP00000301607:p.Arg212*	Somatic		WXS	Illumina HiSeq	Phase_I	A0AUV5	Nonsense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	38	7.069588	0.98040	.	.	ENSG00000167880	ENST00000301607	.	.	.	4.17	0.736	0.18307	.	0.545138	0.17893	N	0.158452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0247	7.5942	0.28037	0.0:0.1518:0.3822:0.466	.	.	.	.	X	212	.	ENSP00000301607:R212X	R	-	1	2	EVPL	71529876	0.316000	0.24580	0.991000	0.47740	0.935000	0.57460	0.386000	0.20702	-0.028000	0.13850	0.462000	0.41574	CGA		0.697	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1		NM_001988	
FAM45A	404636	broad.mit.edu;hgsc.bcm.edu	37	10	120877121	120877121	+	Silent	SNP	C	C	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr10:120877121C>A	ENST00000361432.2	+	4	449	c.423C>A	c.(421-423)ggC>ggA	p.G141G	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000535029.1_Silent_p.G141G	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	141								p.G141G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AAGAAAACGGCTCTTTCCTTA	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											109.0	111.0	110.0					10																	120877121		2203	4300	6503	SO:0001819	synonymous_variant	404636			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.423C>A	10.37:g.120877121C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Silent	SNP	ENST00000361432.2	37	CCDS7609.1																																																																																				0.468	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1		NM_207009	
HOXC8	3224	hgsc.bcm.edu;ucsc.edu	37	12	54403350	54403350	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr12:54403350delC	ENST00000040584.4	+	1	519	c.282delC	c.(280-282)ctcfs	p.L94fs	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	94					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						ACGAGGCGCTCCCCAGACAGT	0.587																																					GBM(197;701 2226 7002 18822 41696)												0													117.0	124.0	122.0					12																	54403350		2203	4300	6503	SO:0001589	frameshift_variant	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.282delC	12.37:g.54403350delC	ENSP00000040584:p.Leu94fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4J4|O15221|O15362	Frame_Shift_Del	DEL	ENST00000040584.4	37	CCDS8870.1																																																																																				0.587	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2			
HSPA9	3313	broad.mit.edu;hgsc.bcm.edu	37	5	137910976	137910976	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr5:137910976C>A	ENST00000297185.3	-	1	157	c.32G>T	c.(31-33)cGt>cTt	p.R11L		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	11					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.R11L(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCCCACGAGACGGGCTGCTGC	0.682																																																	1	Substitution - Missense(1)	kidney(1)											13.0	18.0	17.0					5																	137910976		2191	4280	6471	SO:0001583	missense	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.32G>T	5.37:g.137910976C>A	ENSP00000297185:p.Arg11Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940687	0.52972	.	.	ENSG00000113013	ENST00000297185	T	0.01059	5.39	5.51	5.51	0.81932	.	0.998527	0.08109	N	0.996536	T	0.01189	0.0039	N	0.08118	0	0.40277	D	0.978356	P	0.39748	0.686	B	0.37451	0.25	T	0.73745	-0.3886	10	0.59425	D	0.04	-8.1791	14.7928	0.69854	0.0:1.0:0.0:0.0	.	11	P38646	GRP75_HUMAN	L	11	ENSP00000297185:R11L	ENSP00000297185:R11L	R	-	2	0	HSPA9	137938875	0.995000	0.38212	0.795000	0.32087	0.065000	0.16274	3.892000	0.56235	2.873000	0.98535	0.561000	0.74099	CGT		0.682	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1		NM_004134	
KCNMA1	3778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	78872137	78872137	+	Silent	SNP	C	C	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr10:78872137C>A	ENST00000286628.8	-	7	947	c.948G>T	c.(946-948)ggG>ggT	p.G316G	KCNMA1_ENST00000286627.5_Silent_p.G316G|KCNMA1_ENST00000406533.3_Silent_p.G316G|KCNMA1_ENST00000372440.1_Silent_p.G316G|KCNMA1_ENST00000354353.5_Silent_p.G316G|KCNMA1_ENST00000404857.1_Silent_p.G316G|KCNMA1_ENST00000404771.3_Silent_p.G316G|KCNMA1_ENST00000372443.1_Silent_p.G316G	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	316					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.G316G(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AATGGATGAACCCGGCTGCAG	0.458											OREG0020286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	kidney(2)											74.0	65.0	68.0					10																	78872137		2203	4300	6503	SO:0001819	synonymous_variant	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.948G>T	10.37:g.78872137C>A		Somatic	1186	WXS	Illumina HiSeq	Phase_I	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.845|9.845	1.192009|1.192009	0.21954|0.21954	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372421	T|.	0.07114|.	3.22|.	5.8|5.8	-1.03|-1.03	0.10102|0.10102	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55049|0.55049	0.1896|0.1896	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47341|0.47341	-0.9125|-0.9125	7|4	0.87932|.	D|.	0|.	-11.2713|-11.2713	9.4589|9.4589	0.38772|0.38772	0.0:0.2818:0.5256:0.1925|0.0:0.2818:0.5256:0.1925	.|.	.|.	.|.	.|.	V|F	267|305	ENSP00000361480:G267V|.	ENSP00000361480:G267V|.	G|V	-|-	2|1	0|0	KCNMA1|KCNMA1	78542143|78542143	0.628000|0.628000	0.27138|0.27138	0.981000|0.981000	0.43875|0.43875	0.980000|0.980000	0.70556|0.70556	-0.153000|-0.153000	0.10144|0.10144	-0.474000|-0.474000	0.06862|0.06862	-0.137000|-0.137000	0.14449|0.14449	GGT|GTT		0.458	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		NM_002247	
KCNMA1	3778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	78872140	78872140	+	Silent	SNP	G	G	A	rs79713097	byFrequency	TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr10:78872140G>A	ENST00000286628.8	-	7	944	c.945C>T	c.(943-945)gcC>gcT	p.A315A	KCNMA1_ENST00000286627.5_Silent_p.A315A|KCNMA1_ENST00000406533.3_Silent_p.A315A|KCNMA1_ENST00000372440.1_Silent_p.A315A|KCNMA1_ENST00000354353.5_Silent_p.A315A|KCNMA1_ENST00000404857.1_Silent_p.A315A|KCNMA1_ENST00000404771.3_Silent_p.A315A|KCNMA1_ENST00000372443.1_Silent_p.A315A	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	315					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.A315A(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GGATGAACCCGGCTGCAGTCA	0.453											OREG0020286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		18360	0.0		0.002	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)						G	,,,	3,4403	6.2+/-15.9	0,3,2200	74.0	65.0	68.0		945,945,945,945	-1.6	1.0	10	dbSNP_131	68	29,8571	20.4+/-63.3	0,29,4271	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	,,,	0,32,6471	AA,AG,GG		0.3372,0.0681,0.246	,,,	315/1183,315/1237,315/1220,315/1179	78872140	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.945C>T	10.37:g.78872140G>A		Somatic	1186	WXS	Illumina HiSeq	Phase_I	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37		2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.002638522427440633|0.002638522427440633	G|G	10.37|10.37	1.332598|1.332598	0.24167|0.24167	6.81E-4|6.81E-4	0.003372|0.003372	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372421	.|.	.|.	.|.	5.8|5.8	-1.64|-1.64	0.08318|0.08318	.|.	.|.	.|.	.|.	.|.	T|T	0.57755|0.57755	0.2075|0.2075	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.55679|0.55679	-0.8103|-0.8103	4|4	.|.	.|.	.|.	-13.4083|-13.4083	11.351|11.351	0.49587|0.49587	0.788:0.0:0.212:0.0|0.788:0.0:0.212:0.0	.|.	.|.	.|.	.|.	L|W	266|304	.|.	.|.	P|R	-|-	2|1	0|2	KCNMA1|KCNMA1	78542146|78542146	0.998000|0.998000	0.40836|0.40836	0.993000|0.993000	0.49108|0.49108	0.973000|0.973000	0.67179|0.67179	0.643000|0.643000	0.24750|0.24750	-0.154000|-0.154000	0.11118|0.11118	-0.982000|-0.982000	0.02568|0.02568	CCG|CGG		0.453	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		NM_002247	
KIAA0232	9778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	6843902	6843902	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr4:6843902G>A	ENST00000307659.5	+	4	795	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.V114I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	114							ATP binding (GO:0005524)	p.V114I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACAGGCTGCTGTCCAGTGTCT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											101.0	107.0	105.0					4																	6843902		1832	4090	5922	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.340G>A	4.37:g.6843902G>A	ENSP00000303928:p.Val114Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370331	0.82573	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.14	5.14	0.70334	.	0.061993	0.64402	D	0.000005	T	0.73497	0.3594	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75326	-0.3357	9	0.56958	D	0.05	-22.1382	18.5814	0.91172	0.0:0.0:1.0:0.0	.	114	Q92628	K0232_HUMAN	I	114	.	ENSP00000303928:V114I	V	+	1	0	KIAA0232	6894803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.165000	0.94761	2.360000	0.80028	0.655000	0.94253	GTC		0.353	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2		NM_014743	
KLHL13	90293	hgsc.bcm.edu;ucsc.edu	37	X	117032986	117032986	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chrX:117032986delT	ENST00000262820.3	-	7	2762	c.1853delA	c.(1852-1854)aagfs	p.K618fs	KLHL13_ENST00000371876.1_Frame_Shift_Del_p.K567fs|KLHL13_ENST00000541812.1_Frame_Shift_Del_p.K602fs|KLHL13_ENST00000371878.1_Frame_Shift_Del_p.K567fs|KLHL13_ENST00000469946.1_Frame_Shift_Del_p.K567fs|KLHL13_ENST00000540167.1_Frame_Shift_Del_p.K602fs|KLHL13_ENST00000539496.1_Frame_Shift_Del_p.K621fs|KLHL13_ENST00000371882.1_Frame_Shift_Del_p.K567fs|KLHL13_ENST00000545703.1_Frame_Shift_Del_p.K576fs	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	618					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATCAAAAACCTTATGCCATTC	0.418																																																	0													197.0	170.0	180.0					X																	117032986		2203	4300	6503	SO:0001589	frameshift_variant	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1853delA	X.37:g.117032986delT	ENSP00000262820:p.Lys618fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Frame_Shift_Del	DEL	ENST00000262820.3	37	CCDS14571.1																																																																																				0.418	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_033495	
LIPC	3990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58834808	58834808	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr15:58834808G>A	ENST00000356113.6	+	6	1147	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	LIPC_ENST00000414170.3_Missense_Mutation_p.G178S|LIPC_ENST00000299022.5_Missense_Mutation_p.G178S|LIPC_ENST00000433326.2_Missense_Mutation_p.G117S			P11150	LIPC_HUMAN	lipase, hepatic	178					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.G178S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AGGATTTGCCGGCAGTTCCAT	0.532																																																	1	Substitution - Missense(1)	kidney(1)											202.0	170.0	181.0					15																	58834808		2192	4292	6484	SO:0001583	missense	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.532G>A	15.37:g.58834808G>A	ENSP00000348425:p.Gly178Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414338	0.96092	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	4.91	4.91	0.64330	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	D	0.99806	1.1038	10	0.87932	D	0	.	18.4464	0.90685	0.0:0.0:1.0:0.0	.	117;178	E7EUK6;P11150	.;LIPC_HUMAN	S	178;178;178;117	ENSP00000348425:G178S;ENSP00000395569:G178S;ENSP00000299022:G178S;ENSP00000395002:G117S	ENSP00000299022:G178S	G	+	1	0	LIPC	56622100	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.721000	0.98766	2.442000	0.82660	0.655000	0.94253	GGC		0.532	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			
LRRC55	219527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56954876	56954876	+	Silent	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr11:56954876G>A	ENST00000497933.1	+	2	1095	c.948G>A	c.(946-948)gtG>gtA	p.V316V		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	286					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V316V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TTGCTTCTGTGGCCACCAACT	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											154.0	107.0	123.0					11																	56954876		2201	4296	6497	SO:0001819	synonymous_variant	219527				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.948G>A	11.37:g.56954876G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	CCDS31539.1																																																																																				0.572	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2		NM_001005210	
MED13	9969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60028244	60028244	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr17:60028244G>C	ENST00000397786.2	-	28	6309	c.6233C>G	c.(6232-6234)cCt>cGt	p.P2078R		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2078					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P2078R(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAACCAGTCAGGTAATGGACC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											155.0	141.0	145.0					17																	60028244		1946	4166	6112	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6233C>G	17.37:g.60028244G>C	ENSP00000380888:p.Pro2078Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884350	0.91814	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.95885	-3.84	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98298	1.0517	10	0.87932	D	0	-18.5642	20.5792	0.99380	0.0:0.0:1.0:0.0	.	2078	Q9UHV7	MED13_HUMAN	R	2078;2077	ENSP00000380888:P2078R	ENSP00000262436:P2077R	P	-	2	0	MED13	57383026	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.433000	0.97501	2.873000	0.98535	0.561000	0.74099	CCT		0.428	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121	
NLRC4	58484	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32476580	32476580	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr2:32476580T>A	ENST00000404025.2	-	5	841	c.353A>T	c.(352-354)tAt>tTt	p.Y118F	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.Y118F|NLRC4_ENST00000402280.1_Missense_Mutation_p.Y118F			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	118	Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.Y118F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACCAAGGGGATAAAAGTTCAG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											58.0	60.0	59.0					2																	32476580		2203	4300	6503	SO:0001583	missense	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.353A>T	2.37:g.32476580T>A	ENSP00000385090:p.Tyr118Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	T	1.802	-0.476944	0.04414	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.50548	0.74;0.74;0.74	3.46	-1.19	0.09585	.	0.548520	0.14651	N	0.306617	T	0.23289	0.0563	N	0.14661	0.345	0.29394	N	0.862405	B	0.02656	0.0	B	0.04013	0.001	T	0.36261	-0.9755	9	0.10902	T	0.67	-3.4236	8.2225	0.31549	0.4596:0.0:0.0:0.5404	.	118	Q9NPP4	NLRC4_HUMAN	F	118	ENSP00000354159:Y118F;ENSP00000385428:Y118F;ENSP00000385090:Y118F	ENSP00000354159:Y118F	Y	-	2	0	NLRC4	32330084	0.997000	0.39634	0.830000	0.32933	0.315000	0.28087	0.519000	0.22862	-0.298000	0.08921	0.443000	0.29094	TAT		0.428	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2		NM_021209	
OR7C1	26664	hgsc.bcm.edu	37	19	14910636	14910636	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr19:14910636T>A	ENST00000248073.2	-	1	387	c.313A>T	c.(313-315)Act>Tct	p.T105S	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	105					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CCAAATGAAGTGAAAAAAAAA	0.448																																																	0													61.0	61.0	61.0					19																	14910636		2203	4300	6503	SO:0001583	missense	26664			X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.313A>T	19.37:g.14910636T>A	ENSP00000248073:p.Thr105Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	t	10.63	1.405146	0.25378	.	.	ENSG00000127530	ENST00000248073	T	0.00551	6.65	3.64	-7.27	0.01461	GPCR, rhodopsin-like superfamily (1);	1.894480	0.04019	U	0.299560	T	0.00328	0.0010	N	0.10916	0.065	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.47032	-0.9148	10	0.59425	D	0.04	.	3.7298	0.08488	0.2428:0.0854:0.4927:0.1792	.	105	O76099	OR7C1_HUMAN	S	105	ENSP00000248073:T105S	ENSP00000248073:T105S	T	-	1	0	OR7C1	14771636	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.800000	0.00761	-1.936000	0.01048	-0.613000	0.04052	ACT		0.448	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			
OVCH1	341350	broad.mit.edu;hgsc.bcm.edu	37	12	29640641	29640641	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr12:29640641G>C	ENST00000318184.5	-	7	876	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	293	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.Q293E(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AACAGGTTTtgagtgataaaa	0.413																																																	1	Substitution - Missense(1)	kidney(1)											54.0	52.0	52.0					12																	29640641		1890	4114	6004	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.877C>G	12.37:g.29640641G>C	ENSP00000326708:p.Gln293Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	G	0.225	-1.025303	0.02061	.	.	ENSG00000187950	ENST00000318184	D	0.92495	-3.05	2.66	1.76	0.24704	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	T	0.78438	0.4283	N	0.04805	-0.155	0.09310	N	1	P	0.48764	0.915	B	0.44108	0.441	T	0.73235	-0.4047	9	0.02654	T	1	.	5.2931	0.15737	0.1622:0.0:0.8378:0.0	.	293	Q7RTY7	OVCH1_HUMAN	E	293	ENSP00000326708:Q293E	ENSP00000326708:Q293E	Q	-	1	0	OVCH1	29531908	0.074000	0.21230	0.158000	0.22627	0.529000	0.34654	1.261000	0.32980	0.685000	0.31468	0.655000	0.94253	CAA		0.413	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2		NM_183378	
PEX5L	51555	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	179526182	179526182	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr3:179526182G>A	ENST00000467460.1	-	13	1726	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y	PEX5L_ENST00000263962.8_Missense_Mutation_p.H464Y|PEX5L_ENST00000472994.1_Missense_Mutation_p.H407Y|PEX5L_ENST00000485199.1_Missense_Mutation_p.H431Y|PEX5L_ENST00000464614.1_Missense_Mutation_p.H358Y|PEX5L_ENST00000465751.1_Missense_Mutation_p.H442Y|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.H274Y|PEX5L_ENST00000392649.3_Missense_Mutation_p.H358Y|PEX5L_ENST00000476138.1_Missense_Mutation_p.H423Y	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	466					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.H466Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCATTTTGGTGGGCAGCTTCC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											100.0	104.0	102.0					3																	179526182		2203	4300	6503	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1396C>T	3.37:g.179526182G>A	ENSP00000419975:p.His466Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907290	0.72868	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	6.17	6.17	0.99709	Tetratricopeptide repeat-containing (1);	0.094467	0.85682	D	0.000000	T	0.77818	0.4187	L	0.36672	1.1	0.58432	D	0.999999	P;P;B;D;P;P	0.53745	0.92;0.851;0.006;0.962;0.952;0.936	B;B;B;B;P;B	0.47470	0.221;0.221;0.017;0.281;0.548;0.145	T	0.79022	-0.1973	10	0.72032	D	0.01	-24.529	20.8794	0.99867	0.0:0.0:1.0:0.0	.	407;442;358;464;431;466	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	Y	466;464;431;464;358;274;423;354;407;358;442	ENSP00000419975:H466Y;ENSP00000263962:H464Y;ENSP00000418440:H431Y;ENSP00000376420:H358Y;ENSP00000418665:H274Y;ENSP00000420555:H423Y;ENSP00000418054:H407Y;ENSP00000417270:H358Y;ENSP00000419348:H442Y	ENSP00000263962:H464Y	H	-	1	0	PEX5L	181008876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.409000	0.73289	2.941000	0.99782	0.655000	0.94253	CAC		0.398	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1		NM_016559	
CPQ	10404	hgsc.bcm.edu	37	8	97847356	97847357	+	Frame_Shift_Ins	INS	-	-	T	rs373864966|rs113098340		TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr8:97847356_97847357insT	ENST00000220763.5	+	3	799_800	c.589_590insT	c.(589-591)gtgfs	p.V197fs		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	197					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										AGCTGCCAAGGTGGGGGCTTTG	0.48																																																	0																																										SO:0001589	frameshift_variant	0			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.590dupT	8.37:g.97847357_97847357dupT	ENSP00000220763:p.Val197fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Frame_Shift_Ins	INS	ENST00000220763.5	37	CCDS6273.1																																																																																				0.480	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2		NM_016134	
PRIM2	5558	broad.mit.edu;hgsc.bcm.edu	37	6	57372299	57372299	+	Silent	SNP	G	G	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr6:57372299G>A	ENST00000607273.1	+	8	792	c.705G>A	c.(703-705)agG>agA	p.R235R	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	235					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.R235R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TAACAGCCAGGTCCTTGCCTG	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											135.0	121.0	126.0					6																	57372299		1915	4145	6060	SO:0001819	synonymous_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.705G>A	6.37:g.57372299G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37																																																																																					0.423	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000947	
SH2D7	646892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78393416	78393416	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr15:78393416A>G	ENST00000328828.5	+	5	821	c.821A>G	c.(820-822)tAc>tGc	p.Y274C	SH2D7_ENST00000409568.2_Missense_Mutation_p.Y138C	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	274								p.Y274C(1)|p.Y138C(1)		endometrium(2)|kidney(2)|lung(3)	7						AGCCAGGCCTACTCCCCAGGC	0.627																																																	2	Substitution - Missense(2)	kidney(2)											24.0	28.0	27.0					15																	78393416		1948	4138	6086	SO:0001583	missense	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.821A>G	15.37:g.78393416A>G	ENSP00000327846:p.Tyr274Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000328828.5	37	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	A	0.098	-1.156646	0.01686	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.27256	1.68;1.8	4.17	-2.18	0.07037	.	0.923259	0.09072	N	0.852644	T	0.06416	0.0165	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	10	0.15499	T	0.54	-0.5905	1.352	0.02174	0.1998:0.3138:0.3264:0.16	.	274	A6NKC9	SH2D7_HUMAN	C	138;274	ENSP00000386676:Y138C;ENSP00000327846:Y274C	ENSP00000327846:Y274C	Y	+	2	0	SH2D7	76180471	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	0.026000	0.13599	-0.105000	0.12132	-0.337000	0.08149	TAC		0.627	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2		NM_001101404	
SIDT1	54847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113325904	113325904	+	Missense_Mutation	SNP	G	G	C	rs572675919	byFrequency	TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr3:113325904G>C	ENST00000264852.4	+	15	2147	c.1421G>C	c.(1420-1422)gGc>gCc	p.G474A	SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Missense_Mutation_p.G474A	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	474					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.G474A(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AATGTCACTGGCAACCAGGAC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											157.0	125.0	136.0					3																	113325904		2203	4300	6503	SO:0001583	missense	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1421G>C	3.37:g.113325904G>C	ENSP00000264852:p.Gly474Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206037	0.95033	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.31769	1.48;1.48	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.58337	0.2115	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58869	-0.7560	10	0.66056	D	0.02	-20.2859	19.8411	0.96685	0.0:0.0:1.0:0.0	.	474;474	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	A	474	ENSP00000264852:G474A;ENSP00000377416:G474A	ENSP00000264852:G474A	G	+	2	0	SIDT1	114808594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.789000	0.99068	2.683000	0.91414	0.655000	0.94253	GGC		0.512	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1		NM_017699	
SLC22A9	114571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63141417	63141418	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr11:63141417_63141418delTG	ENST00000279178.3	+	4	962_963	c.713_714delTG	c.(712-714)atgfs	p.M238fs	SLC22A9_ENST00000310969.4_Frame_Shift_Del_p.V187fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	238					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACATTGGGAATGTGCCCTTCTG	0.475																																																	0																																										SO:0001589	frameshift_variant	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.713_714delTG	11.37:g.63141419_63141420delTG	ENSP00000279178:p.Met238fs	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Del	DEL	ENST00000279178.3	37	CCDS8043.1																																																																																				0.475	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1		NM_080866	
SREBF1	6720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	17723754	17723754	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr17:17723754C>T	ENST00000261646.5	-	2	357	c.173G>A	c.(172-174)gGc>gAc	p.G58D	SREBF1_ENST00000355815.4_Missense_Mutation_p.G88D|SREBF1_ENST00000395757.1_5'Flank|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.G58D|SREBF1_ENST00000435530.2_Missense_Mutation_p.G58D	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	58	Transcriptional activation (acidic).				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)	p.G88D(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGGGTCTGTGCCCCCTGCCCC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											59.0	53.0	55.0					17																	17723754		2203	4300	6503	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.173G>A	17.37:g.17723754C>T	ENSP00000261646:p.Gly58Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	C	2.438	-0.329186	0.05314	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000418712;ENST00000435530	T;T;T;T	0.77620	0.62;0.64;0.63;-1.11	3.94	-1.48	0.08745	.	1.301090	0.05083	N	0.483828	T	0.57095	0.2030	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.06405	0.0;0.0;0.001;0.002	T	0.28267	-1.0049	10	0.16420	T	0.52	-3.1962	1.4403	0.02353	0.1473:0.4129:0.1457:0.2942	.	58;34;58;88	B0I4X3;B0I4X4;P36956;P36956-4	.;.;SRBP1_HUMAN;.	D	58;88;58;34;58	ENSP00000345822:G58D;ENSP00000348069:G88D;ENSP00000261646:G58D;ENSP00000413389:G58D	ENSP00000261646:G58D	G	-	2	0	SREBF1	17664479	0.000000	0.05858	0.004000	0.12327	0.114000	0.19823	-0.107000	0.10873	-0.340000	0.08388	0.555000	0.69702	GGC		0.587	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1		NM_004176	
TEX13A	56157	hgsc.bcm.edu	37	X	104464282	104464282	+	Splice_Site	DEL	C	C	-	rs56118606|rs367644904		TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chrX:104464282delC	ENST00000413579.1	-	4	706	c.595delG	c.(595-597)gat>at	p.D199fs	TEX13A_ENST00000372575.1_Frame_Shift_Del_p.G199fs|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Frame_Shift_Del_p.G199fs|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	199							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCAACATCCCCTCTGCTC	0.652																																																	0													3.0	4.0	4.0					X																	104464282		1657	3597	5254	SO:0001630	splice_region_variant	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.595-1G>-	X.37:g.104464282delC		Somatic		WXS	Illumina HiSeq	Phase_I	B1B1G8|Q32NB6	Frame_Shift_Del	DEL	ENST00000413579.1	37																																																																																					0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_031274	Frame_Shift_Del
ZBED4	9889	broad.mit.edu;hgsc.bcm.edu	37	22	50279076	50279076	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr22:50279076G>C	ENST00000216268.5	+	2	2243	c.1766G>C	c.(1765-1767)gGg>gCg	p.G589A		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	589						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G589A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATCAGCCGGGGGAAGAAGCCG	0.522																																																	1	Substitution - Missense(1)	kidney(1)											52.0	59.0	57.0					22																	50279076		2203	4300	6503	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1766G>C	22.37:g.50279076G>C	ENSP00000216268:p.Gly589Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747831	0.69533	.	.	ENSG00000100426	ENST00000216268	T	0.49139	0.79	5.37	5.37	0.77165	Zinc finger, BED-type predicted (3);	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66139	-0.5998	10	0.52906	T	0.07	-42.191	19.117	0.93344	0.0:0.0:1.0:0.0	.	589	O75132	ZBED4_HUMAN	A	589	ENSP00000216268:G589A	ENSP00000216268:G589A	G	+	2	0	ZBED4	48665080	1.000000	0.71417	0.952000	0.39060	0.282000	0.26991	9.226000	0.95229	2.516000	0.84829	0.655000	0.94253	GGG		0.522	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2		NM_014838	
ZNF107	51427	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	64168953	64168953	+	Silent	SNP	C	C	T			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr7:64168953C>T	ENST00000395391.1	+	4	3646	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F	ZNF107_ENST00000423627.1_Silent_p.F757F|ZNF107_ENST00000344930.3_Silent_p.F757F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F757F(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GCAGAGCTTTCAACCTATCCT	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											38.0	43.0	41.0					7																	64168953		2202	4297	6499	SO:0001819	synonymous_variant	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.2271C>T	7.37:g.64168953C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000395391.1	37	CCDS5527.1																																																																																				0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1		NM_016220	
ZNF518B	85460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	10447375	10447375	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr4:10447375T>C	ENST00000326756.3	-	3	1016	c.578A>G	c.(577-579)gAg>gGg	p.E193G		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	193					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E193G(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTCACAATACTCACACTGATA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											140.0	143.0	142.0					4																	10447375		2203	4300	6503	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.578A>G	4.37:g.10447375T>C	ENSP00000317614:p.Glu193Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663407	0.88251	.	.	ENSG00000178163	ENST00000326756	T	0.18657	2.2	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.35480	0.0933	N	0.25890	0.77	0.39921	D	0.974154	D	0.89917	1.0	D	0.87578	0.998	T	0.20605	-1.0270	10	0.87932	D	0	-32.7111	15.9872	0.80168	0.0:0.0:0.0:1.0	.	193	Q9C0D4	Z518B_HUMAN	G	193	ENSP00000317614:E193G	ENSP00000317614:E193G	E	-	2	0	ZNF518B	10056473	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.555000	0.53727	2.367000	0.80283	0.528000	0.53228	GAG		0.403	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1		NM_053042	
ZNF669	79862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247265092	247265093	+	Splice_Site	DNP	TC	TC	CA			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr1:247265092_247265093TC>CA	ENST00000343381.6	-	3	561_562	c.389_390GA>TG	c.(388-390)gGA>gTG	p.G130V	ZNF669_ENST00000358785.4_Intron|ZNF669_ENST00000366501.1_Splice_Site_p.E43*|ZNF669_ENST00000448299.2_Splice_Site_p.G44V|ZNF669_ENST00000366500.1_Intron	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	130	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G130V(2)|p.G130G(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TCCATTGGCTTCCTAAAATGCA	0.356																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001630	splice_region_variant	79862				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.389_390delinsCA	1.37:g.247265092_247265093delinsCA		Somatic		WXS	Illumina HiSeq	Phase_I	B3KP94|Q5VT39|Q9H9Q6	Silent|Missense_Mutation	SNP	ENST00000343381.6	37	CCDS31088.1																																																																																				0.356	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4		NM_024804	Missense_Mutation
ZNF721	170960	hgsc.bcm.edu;ucsc.edu	37	4	437566	437566	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr4:437566delA	ENST00000338977.5	-	2	702	c.654delT	c.(652-654)tttfs	p.F218fs	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Frame_Shift_Del_p.F230fs			Q8TF20	ZN721_HUMAN	zinc finger protein 721	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGGAATGCATAAAGGCTTTCC	0.383																																																	0													61.0	64.0	63.0					4																	437566		2109	4261	6370	SO:0001589	frameshift_variant	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.654delT	4.37:g.437566delA	ENSP00000340524:p.Phe218fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q69YG7	Frame_Shift_Del	DEL	ENST00000338977.5	37																																																																																					0.383	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1		NM_133474	
CPEB1	64506	broad.mit.edu	37	15	83215272	83215272	+	Splice_Site	SNP	C	C	A			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr15:83215272C>A	ENST00000562019.1	-	11	1826		c.e11-1		CPEB1_ENST00000568757.1_Splice_Site|CPEB1_ENST00000563800.1_Splice_Site|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Splice_Site|CPEB1_ENST00000423133.2_Splice_Site|CPEB1_ENST00000450751.2_Splice_Site|RP11-152F13.10_ENST00000562833.1_Splice_Site|CPEB1_ENST00000568128.1_Splice_Site|CPEB1_ENST00000564522.1_Splice_Site|CPEB1_ENST00000261723.6_Splice_Site|CPEB1_ENST00000398592.2_Splice_Site			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1						cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.?(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAATCTGAACCTGCACAAAGG	0.483																																																	2	Unknown(2)	kidney(2)											61.0	63.0	63.0					15																	83215272		1937	4139	6076	SO:0001630	splice_region_variant	64506			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1510-1G>T	15.37:g.83215272C>A		Somatic		WXS	Illumina GAIIx	Phase_I	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Splice_Site	SNP	ENST00000562019.1	37		.	.	.	.	.	.	.	.	.	.	.	22.5	4.304366	0.81136	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3651	0.90388	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPEB1	81012327	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.069000	0.76755	2.396000	0.81511	0.563000	0.77884	.		0.483	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1		NM_030594	Intron
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr12:31237922G>C	ENST00000407793.2	+	5	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_ENST00000251758.5_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	167	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R167T(11)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612										Multiple Myeloma(12;0.14)																																							11	Substitution - Missense(11)	lung(6)|kidney(2)|large_intestine(1)|prostate(1)|central_nervous_system(1)											18.0	20.0	19.0					12																	31237922		2203	4299	6502	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.500G>C	12.37:g.31237922G>C	ENSP00000384703:p.Arg167Thr	Somatic		WXS	Illumina GAIIx	Phase_I	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.810541	0.00600	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.59224	4.17;4.17;4.17;4.17;0.28;4.17;4.17;4.17	3.87	0.233	0.15386	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.241085	0.41938	N	0.000785	T	0.18635	0.0447	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.12430	T	0.62	.	5.1988	0.15252	0.0:0.4995:0.1963:0.3042	.	167;167;167;167	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	T	167;167;167;141;138;141;167;167	ENSP00000443426:R167T;ENSP00000384703:R167T;ENSP00000251758:R167T;ENSP00000228264:R141T;ENSP00000407646:R138T;ENSP00000406457:R141T;ENSP00000440402:R167T;ENSP00000309965:R167T	ENSP00000228264:R141T	R	+	2	0	DDX11	31129189	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.680000	0.25306	-0.264000	0.09365	-1.993000	0.00448	AGA		0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1		NM_030653	
DDX11	1663	broad.mit.edu	37	12	31242861	31242861	+	Silent	SNP	A	A	C	rs200751040|rs531309221	byFrequency	TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr12:31242861A>C	ENST00000407793.2	+	9	1173	c.922A>C	c.(922-924)Agg>Cgg	p.R308R	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.R282R|DDX11_ENST00000542838.1_Silent_p.R308R|DDX11_ENST00000545668.1_Silent_p.R308R|DDX11_ENST00000350437.4_Silent_p.R308R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	308	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R308R(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AAAGAGGAGGAGGCAGGAGAA	0.587										Multiple Myeloma(12;0.14)				29	0.00579073	0.0038	0.0043	5008	,	,		20906	0.0099		0.007	False		,,,				2504	0.0041																2	Substitution - coding silent(2)	kidney(2)											5.0	7.0	6.0					12																	31242861		2036	4038	6074	SO:0001819	synonymous_variant	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.922A>C	12.37:g.31242861A>C		Somatic		WXS	Illumina GAIIx	Phase_I	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																				0.587	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1		NM_030653	
EOMES	8320	broad.mit.edu	37	3	27763289	27763289	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr3:27763289delT	ENST00000295743.4	-	1	700	c.497delA	c.(496-498)cagfs	p.Q166fs	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_Frame_Shift_Del_p.Q166fs|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	166					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGCCGCCGCCTGGTACGGGAA	0.721																																																	0													4.0	6.0	5.0					3																	27763289		2019	4107	6126	SO:0001589	frameshift_variant	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.497delA	3.37:g.27763289delT	ENSP00000295743:p.Gln166fs	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Frame_Shift_Del	DEL	ENST00000295743.4	37	CCDS2646.1																																																																																				0.721	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1		NM_005442	
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793																0																																												284729			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT		Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Ins	INS	ENST00000492551.1	37																																																																																					0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			
FAM86B3P	286042	broad.mit.edu	37	8	8088411	8088411	+	IGR	SNP	A	A	G	rs2980481	byFrequency	TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr8:8088411A>G								FAM85B (4275 upstream) : ALG1L13P (6784 downstream)														p.Q48R(3)									GAGCTGCTGCAGGATATTTTG	0.488																																																	3	Substitution - Missense(3)	kidney(2)|urinary_tract(1)																																								SO:0001628	intergenic_variant	0																															8.37:g.8088411A>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.488									
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T	rs184555335	byFrequency	TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413													.|||	2313	0.461861	0.4849	0.4121	5008	,	,		9054	0.4554		0.4632	False		,,,				2504	0.4714																0																																												374650																															15.37:g.85053142C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000414190.2	37																																																																																					0.413	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006961	+	RNA	DNP	CC	CC	AT	rs199838243|rs200228350	byFrequency	TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr22:23006960_23006961CC>AT	ENST00000385099.1	+	0	63_64																											GGGCTCTGCTCCTCCTCACCCT	0.629																																																	0																																												96610																														Exception_encountered	22.37:g.23006960_23006961delinsAT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000385099.1	37																																																																																					0.629	D86994.2-201	NOVEL	basic	miRNA	miRNA				
KMT2D	8085	broad.mit.edu	37	12	49427700	49427700	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr12:49427700delC	ENST00000301067.7	-	39	10787	c.10788delG	c.(10786-10788)cggfs	p.R3596fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3596	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										gctgctTGTTCCGATATTCTG	0.582																																																	0													12.0	11.0	12.0					12																	49427700		2169	4237	6406	SO:0001589	frameshift_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10788delG	12.37:g.49427700delC	ENSP00000301067:p.Arg3596fs	Somatic		WXS	Illumina GAIIx	Phase_I	O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																				0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
NGF	4803	broad.mit.edu	37	1	115828691	115828691	+	Nonstop_Mutation	SNP	T	T	G			TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr1:115828691T>G	ENST00000369512.2	-	3	894	c.726A>C	c.(724-726)tgA>tgC	p.*242C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	0					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)	p.*242C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGTCGGCAGGTCAGGCTCTTC	0.552																																																	2	Nonstop extension(2)	kidney(1)|skin(1)											45.0	51.0	49.0					1																	115828691		2203	4300	6503	SO:0001578	stop_lost	4803				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.726A>C	1.37:g.115828691T>G	ENSP00000358525:p.*242Trpext*23	Somatic		WXS	Illumina GAIIx	Phase_I	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Nonstop_Mutation	SNP	ENST00000369512.2	37	CCDS882.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.403306	0.42613	.	.	ENSG00000134259	ENST00000369512	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0041	0.36100	0.0:0.089:0.0:0.911	.	.	.	.	C	242	.	.	X	-	3	0	NGF	115630214	1.000000	0.71417	0.971000	0.41717	0.843000	0.47879	3.140000	0.50585	1.952000	0.56665	0.374000	0.22700	TGA		0.552	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1		NM_002506	
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-B8-4146-01B-11D-1669-08	TCGA-B8-4146-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380bdba7-8a12-4136-877a-f54346d2d8a5	7f73a3eb-cc5d-415f-bbf8-11869e62daf9	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																																	10	Substitution - Missense(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)											117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu	Somatic		WXS	Illumina GAIIx	Phase_I	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708	
