#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LSAMP	4045	broad.mit.edu	37	3	115561414	115561414	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr3:115561414T>C	ENST00000490035.2	-	5	1160	c.661A>G	c.(661-663)Atc>Gtc	p.I221V	LSAMP_ENST00000539563.1_Missense_Mutation_p.I218V|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	221	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GATTCTGTGATAGTGGGAGGA	0.493																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(661-663)Atc>Gtc		limbic system-associated membrane protein							211.0	178.0	190.0					3																	115561414		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115561414T>C	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.661A>G	3.37:g.115561414T>C	ENSP00000419000:p.Ile221Val					LSAMP_ENST00000539563.1_Missense_Mutation_p.I218V|LSAMP_ENST00000498645.1_5'UTR	p.I221V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	5	1160	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	221			Ig-like C2-type 3.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.661A>G	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600605	0.66332	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.73897	-0.79;-0.79;-0.79	5.7	5.7	0.88788	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.84651	0.5519	M	0.69185	2.1	0.58432	D	0.999999	D;P	0.53151	0.958;0.937	D;P	0.70716	0.97;0.669	D	0.85125	0.0971	10	0.51188	T	0.08	-14.7319	15.9796	0.80097	0.0:0.0:0.0:1.0	.	221;221	B2RCU8;Q13449	.;LSAMP_HUMAN	V	205;221;218	ENSP00000328455:I205V;ENSP00000419000:I221V;ENSP00000443429:I218V	ENSP00000328455:I205V	I	-	1	0	LSAMP	117044104	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.542000	0.82095	2.185000	0.69588	0.528000	0.53228	ATC		0.493	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		13	19	0	0	0	0.00010058	0	13	19				
FABP4	2167	broad.mit.edu	37	8	82392802	82392802	+	Silent	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr8:82392802G>C	ENST00000256104.4	-	2	200	c.105C>G	c.(103-105)ggC>ggG	p.G35G	FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	35					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GTTTGGCCATGCCAGCCACTT	0.413																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(103-105)ggC>ggG		fatty acid binding protein 4, adipocyte							74.0	68.0	70.0					8																	82392802		2203	4300	6503	SO:0001819	synonymous_variant	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82392802G>C	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.105C>G	8.37:g.82392802G>C						FABP4_ENST00000518669.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	p.G35G	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	Epithelial(68;0.213)		2	200	-			35					Q6IBA1	Silent	SNP	ENST00000256104.4	37	c.105C>G	CCDS6230.1																																																																																				0.413	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		5	23	0	0	0	8.12818e-05	0	5	23				
PLXDC2	84898	broad.mit.edu	37	10	20500614	20500614	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr10:20500614G>C	ENST00000377252.4	+	10	1919	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.D311H	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	360	PSI.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAGTGGATTTGATCGTCATCG	0.443																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1078-1080)Gat>Cat		plexin domain containing 2							148.0	131.0	137.0					10																	20500614		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20500614G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1078G>C	10.37:g.20500614G>C	ENSP00000366460:p.Asp360His					PLXDC2_ENST00000377242.3_Missense_Mutation_p.D311H|PLXDC2_ENST00000377238.2_3'UTR	p.D360H	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			10	1919	+			360			PSI.		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1078G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095513	0.76870	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.32988	1.43;1.43	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	L	0.55017	1.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.39840	-0.9594	10	0.48119	T	0.1	.	17.5761	0.87949	0.0:0.0:1.0:0.0	.	311;360	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	H	360;311;223;346	ENSP00000366460:D360H;ENSP00000366450:D311H	ENSP00000366446:D223H	D	+	1	0	PLXDC2	20540620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.575000	0.74018	2.885000	0.99019	0.655000	0.94253	GAT		0.443	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		4	6	0	0	0	0.000157383	0	4	6				
ABHD4	63874	broad.mit.edu	37	14	23075421	23075421	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:23075421G>A	ENST00000428304.2	+	5	804	c.734G>A	c.(733-735)tGc>tAc	p.C245Y	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	245					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		ATTTACCACTGCAACGCACAG	0.522																																						ENST00000428304.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(733-735)tGc>tAc		abhydrolase domain containing 4							45.0	43.0	44.0					14																	23075421		2203	4300	6503	SO:0001583	missense	63874				lipid catabolic process		hydrolase activity	g.chr14:23075421G>A	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.734G>A	14.37:g.23075421G>A	ENSP00000414558:p.Cys245Tyr					ABHD4_ENST00000544562.1_3'UTR	p.C245Y	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	5	804	+	all_cancers(95;5.49e-05)		245					B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	c.734G>A	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968175	0.74131	.	.	ENSG00000100439	ENST00000428304;ENST00000216327	D;D	0.83992	-1.79;-1.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91996	0.5607	10	0.54805	T	0.06	-18.5192	16.7765	0.85552	0.0:0.0:1.0:0.0	.	245	Q8TB40	ABHD4_HUMAN	Y	245;179	ENSP00000414558:C245Y;ENSP00000216327:C179Y	ENSP00000216327:C179Y	C	+	2	0	ABHD4	22145261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.284000	0.72652	2.551000	0.86045	0.650000	0.86243	TGC		0.522	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			13	10	0	0	0	0.00010058	0	13	10				
BTBD7	55727	broad.mit.edu	37	14	93723588	93723588	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:93723588G>C	ENST00000334746.5	-	6	1868	c.1561C>G	c.(1561-1563)Cga>Gga	p.R521G	BTBD7_ENST00000393170.2_Missense_Mutation_p.R95G|BTBD7_ENST00000554565.1_Missense_Mutation_p.R170G	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	521					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTTCAATTCGCACAAAAGGT	0.408																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1561-1563)Cga>Gga		BTB (POZ) domain containing 7							166.0	156.0	159.0					14																	93723588		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93723588G>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1561C>G	14.37:g.93723588G>C	ENSP00000335615:p.Arg521Gly					BTBD7_ENST00000554565.1_Missense_Mutation_p.R170G|BTBD7_ENST00000393170.2_Missense_Mutation_p.R95G	p.R521G	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	6	1868	-		all_cancers(154;0.08)	521					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1561C>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954828	0.73902	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.76839	-0.78;-1.05	5.64	3.76	0.43208	BTB/Kelch-associated (1);	0.000000	0.85682	D	0.000000	D	0.88001	0.6320	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.995	D	0.89316	0.3636	10	0.87932	D	0	.	15.1131	0.72375	0.0:0.0:0.7415:0.2585	.	95;170;521	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	G	521;170;136;95	ENSP00000335615:R521G;ENSP00000451010:R170G	ENSP00000335615:R521G	R	-	1	2	BTBD7	92793341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.893000	0.56243	0.800000	0.34041	0.650000	0.86243	CGA		0.408	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		55	75	0	0	0	0.000147903	0	55	75				
RANGAP1	5905	broad.mit.edu	37	22	41650321	41650321	+	Silent	SNP	A	A	G			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr22:41650321A>G	ENST00000455915.2	-	10	2720	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P	RANGAP1_ENST00000356244.3_Silent_p.P417P|RANGAP1_ENST00000407260.4_Silent_p.P362P|RANGAP1_ENST00000405486.1_Silent_p.P417P			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	417					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCCAGTGTTAGGGTCCAGAA	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1249-1251)ccT>ccC		Ran GTPase activating protein 1							295.0	211.0	240.0					22																	41650321		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650321A>G	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1251T>C	22.37:g.41650321A>G						RANGAP1_ENST00000407260.4_Silent_p.P362P|RANGAP1_ENST00000405486.1_Silent_p.P417P|RANGAP1_ENST00000356244.3_Silent_p.P417P	p.P417P			P46060	RAGP1_HUMAN			10	2720	-			417					Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1251T>C	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		4	143	0	0	0	0.00024832	0	4	143				
TECPR2	9895	broad.mit.edu	37	14	102873742	102873742	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:102873742C>T	ENST00000359520.7	+	3	513	c.287C>T	c.(286-288)aCa>aTa	p.T96I	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.T96I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	96					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCAGCAGGCACAGCCTCTGGC	0.463																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(286-288)aCa>aTa		tectonin beta-propeller repeat containing 2							93.0	82.0	86.0					14																	102873742		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102873742C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.287C>T	14.37:g.102873742C>T	ENSP00000352510:p.Thr96Ile					TECPR2_ENST00000558678.1_Missense_Mutation_p.T96I|TECPR2_ENST00000561228.1_3'UTR	p.T96I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			3	513	+			96					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.287C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277190	0.95459	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.01406	4.93	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.08403	0.0209	L	0.56769	1.78	0.52099	D	0.999941	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.991;0.992;0.996	T	0.00630	-1.1636	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	96;96;96	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	I	96	ENSP00000352510:T96I	ENSP00000352510:T96I	T	+	2	0	TECPR2	101943495	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	7.463000	0.80869	2.937000	0.99478	0.650000	0.86243	ACA		0.463	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		54	36	0	0	0	0.000147903	0	54	36				
ZNF618	114991	broad.mit.edu	37	9	116811046	116811046	+	Silent	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr9:116811046C>T	ENST00000374126.5	+	15	1563	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	ZNF618_ENST00000288466.7_Silent_p.S395S|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCGTGGTCAGCGGGAAGGAGT	0.582																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1183-1185)agC>agT		zinc finger protein 618							68.0	74.0	72.0					9																	116811046		2045	4181	6226	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811046C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1464C>T	9.37:g.116811046C>T						ZNF618_ENST00000374126.5_Silent_p.S488S|ZNF618_ENST00000470105.1_3'UTR	p.S395S	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	1284	+			488					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.1185C>T																																																																																					0.582	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		33	67	0	0	0	0.000339439	0	33	67				
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T	rs376271028		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1				BMS1 pseudogene 20																		TGTTTAATTCAGCCTTGGAAG	0.413																																						ENST00000426066.1																			0																																																			0							g.chr22:22664115A>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664115A>T								NR_027293.1						0	638	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	114	0	0	0	0.000219431	0	5	114				
NPEPPS	9520	broad.mit.edu	37	17	45608849	45608849	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:45608849C>G	ENST00000322157.4	+	1	420	c.183C>G	c.(181-183)atC>atG	p.I61M	NPEPPS_ENST00000530173.1_Missense_Mutation_p.I57M|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_Missense_Mutation_p.I17M	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	61					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCTCCCCCATCAACTACAGCC	0.687																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(181-183)atC>atG		aminopeptidase puromycin sensitive																																				SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45608849C>G	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.183C>G	17.37:g.45608849C>G	ENSP00000320324:p.Ile61Met					NPEPPS_ENST00000544660.1_Missense_Mutation_p.I17M|NPEPPS_ENST00000530173.1_Missense_Mutation_p.I57M|NPEPPS_ENST00000525037.1_Intron	p.I61M	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			1	420	+			61					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.183C>G	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835877	0.32421	.	.	ENSG00000141279	ENST00000525007;ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T;T	0.04454	4.12;4.12;4.12;3.62	2.69	1.7	0.24286	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.082576	0.50627	U	0.000117	T	0.09113	0.0225	L	0.49640	1.575	0.33057	D	0.53358	B;B;B	0.34313	0.448;0.259;0.411	B;B;P	0.47102	0.332;0.264;0.537	T	0.07597	-1.0764	10	0.48119	T	0.1	.	8.2424	0.31669	0.0:0.871:0.0:0.129	.	61;57;61	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	M	48;57;61;48;17	ENSP00000437019:I48M;ENSP00000433287:I57M;ENSP00000320324:I61M;ENSP00000442461:I17M	ENSP00000320324:I61M	I	+	3	3	NPEPPS	42963848	1.000000	0.71417	0.996000	0.52242	0.306000	0.27790	4.188000	0.58351	0.330000	0.23485	-0.361000	0.07541	ATC		0.687	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		7	8	0	0	0	0.000157383	0	7	8				
IL17REL	400935	broad.mit.edu	37	22	50436654	50436654	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr22:50436654A>G	ENST00000389983.2	-	10	950	c.686T>C	c.(685-687)gTg>gCg	p.V229A	IL17REL_ENST00000341280.5_Missense_Mutation_p.V229A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	229										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGGCCACTCACAGGGCAGGC	0.677																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(685-687)gTg>gCg		interleukin 17 receptor E-like							42.0	48.0	46.0					22																	50436654		2203	4300	6503	SO:0001583	missense	400935							g.chr22:50436654A>G	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.686T>C	22.37:g.50436654A>G	ENSP00000374633:p.Val229Ala					IL17REL_ENST00000341280.5_Missense_Mutation_p.V229A	p.V229A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	10	950	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	229					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.686T>C	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798149	0.50208	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.16457	2.34;2.34	3.05	3.05	0.35203	.	0.098435	0.40144	U	0.001165	T	0.25568	0.0622	L	0.52573	1.65	0.23906	N	0.996508	D	0.59357	0.985	P	0.56823	0.807	T	0.02574	-1.1139	10	0.72032	D	0.01	.	7.5203	0.27624	1.0:0.0:0.0:0.0	.	229	Q6ZVW7	I17EL_HUMAN	A	229	ENSP00000374633:V229A;ENSP00000342520:V229A	ENSP00000342520:V229A	V	-	2	0	IL17REL	48778781	0.140000	0.22579	0.908000	0.35775	0.351000	0.29236	1.572000	0.36461	1.265000	0.44215	0.459000	0.35465	GTG		0.677	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		3	78	0	0	0	0.00024832	0	3	78				
RIC3	79608	broad.mit.edu	37	11	8190434	8190434	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr11:8190434C>T	ENST00000309737.6	-	1	102	c.103G>A	c.(103-105)Gag>Aag	p.E35K	RIC3_ENST00000335425.7_Missense_Mutation_p.E35K|RIC3_ENST00000343202.4_Missense_Mutation_p.E35K|RP11-379P15.1_ENST00000499752.2_lincRNA|RIC3_ENST00000425599.2_Missense_Mutation_p.E35K|RIC3_ENST00000419822.2_Missense_Mutation_p.E35K|RIC3_ENST00000539720.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	35					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GGCGGCGGCTCCTGCCGCTTC	0.657																																						ENST00000335425.7																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(103-105)Gag>Aag		RIC3 acetylcholine receptor chaperone							22.0	24.0	24.0					11																	8190434		2157	4220	6377	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8190434C>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.103G>A	11.37:g.8190434C>T	ENSP00000308820:p.Glu35Lys					RIC3_ENST00000539720.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.E35K|RIC3_ENST00000425599.2_Missense_Mutation_p.E35K|RIC3_ENST00000419822.2_Missense_Mutation_p.E35K|RIC3_ENST00000343202.4_Missense_Mutation_p.E35K	p.E35K	NM_001135109.2	NP_001128581.1	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	1	156	-			35					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.103G>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813862	0.50527	.	.	ENSG00000166405	ENST00000335425;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000425599;ENST00000531450;ENST00000419822	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.43	4.5	0.54988	.	0.107271	0.41097	D	0.000941	T	0.34454	0.0898	M	0.63428	1.95	0.80722	D	1	P;P;B;B;B;B	0.45474	0.649;0.859;0.078;0.403;0.16;0.16	B;P;B;B;B;B	0.45195	0.164;0.473;0.059;0.168;0.087;0.087	T	0.10870	-1.0611	10	0.14252	T	0.57	-17.7483	14.066	0.64828	0.0:0.7125:0.2875:0.0	.	35;35;35;35;35;35	B7Z1U4;B0B1U0;Q7Z5B4-2;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5	.;.;.;.;RIC3_HUMAN;.	K	35	ENSP00000344904:E35K;ENSP00000308820:E35K;ENSP00000395320:E35K;ENSP00000431658:E35K;ENSP00000404415:E35K	ENSP00000308820:E35K	E	-	1	0	RIC3	8147010	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.735000	0.26115	1.254000	0.44035	0.491000	0.48974	GAG		0.657	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		6	7	0	0	0	6.40141e-05	0	6	7				
TNFAIP8L2	79626	broad.mit.edu	37	1	151131411	151131411	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr1:151131411G>T	ENST00000368910.3	+	2	364	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	80					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCTCCTTTGGCCCCAGTGA	0.622																																						ENST00000368910.3																			0				lung(1)|skin(2)	3						c.(238-240)Ggc>Tgc		tumor necrosis factor, alpha-induced protein 8-like 2							44.0	41.0	42.0					1																	151131411		2203	4300	6503	SO:0001583	missense	79626				innate immune response			g.chr1:151131411G>T	BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.238G>T	1.37:g.151131411G>T	ENSP00000357906:p.Gly80Cys						p.G80C	NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	364	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		80					Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	ENST00000368910.3	37	c.238G>T	CCDS985.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530224	0.45073	.	.	ENSG00000163154	ENST00000368910	T	0.30182	1.54	5.67	-2.54	0.06307	.	0.403453	0.31335	N	0.007830	T	0.14184	0.0343	L	0.47716	1.5	0.33035	D	0.530648	P	0.42078	0.77	B	0.42163	0.378	T	0.10451	-1.0629	10	0.87932	D	0	-8.5457	12.6359	0.56683	0.7222:0.0:0.2778:0.0	.	80	Q6P589	TP8L2_HUMAN	C	80	ENSP00000357906:G80C	ENSP00000357906:G80C	G	+	1	0	TNFAIP8L2	149398035	0.361000	0.24972	0.039000	0.18376	0.313000	0.28021	0.721000	0.25911	-0.540000	0.06265	-0.150000	0.13652	GGC		0.622	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	NM_024575		7	60	1	0	7.48243e-07	0.000442599	6.18779e-05	7	60				
GPR142	350383	broad.mit.edu	37	17	72368512	72368512	+	Missense_Mutation	SNP	C	C	T	rs143741049	byFrequency	TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:72368512C>T	ENST00000335666.4	+	4	1210	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	388						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCCTGTCCACCGGGACTGGAG	0.607													C|||	9	0.00179712	0.0068	0.0	5008	,	,		20030	0.0		0.0	False		,,,				2504	0.0					ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(1162-1164)Cgg>Tgg		G protein-coupled receptor 142		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	111.0	94.0	100.0		1162	3.5	1.0	17	dbSNP_134	100	0,8600		0,0,4300	no	missense	GPR142	NM_181790.1	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	388/463	72368512	3,13003	2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368512C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1162C>T	17.37:g.72368512C>T	ENSP00000335158:p.Arg388Trp						p.R388W	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			4	1210	+			388					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.1162C>T	CCDS11698.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.75	3.465487	0.63513	6.81E-4	0.0	ENSG00000257008	ENST00000335666	T	0.72167	-0.63	4.62	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.603639	0.16754	N	0.200929	T	0.76456	0.3990	L	0.40543	1.245	0.33144	D	0.544772	D;D	0.89917	1.0;1.0	D;D	0.73380	0.965;0.98	T	0.80491	-0.1359	10	0.72032	D	0.01	-15.914	12.1326	0.53952	0.283:0.717:0.0:0.0	.	388;1350	Q7Z601;Q8NGB0	GP142_HUMAN;.	W	388	ENSP00000335158:R388W	ENSP00000335158:R388W	R	+	1	2	GPR142	69880107	0.414000	0.25408	1.000000	0.80357	0.998000	0.95712	1.302000	0.33459	2.524000	0.85096	0.556000	0.70494	CGG		0.607	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		5	175	0	0	0	1.23904e-05	0	5	175				
TSC22D1	8848	broad.mit.edu	37	13	45149845	45149845	+	Silent	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr13:45149845G>C	ENST00000458659.2	-	1	856	c.366C>G	c.(364-366)tcC>tcG	p.S122S	TSC22D1_ENST00000501704.2_Silent_p.S122S|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	122					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S122S(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGATACTAGCGGAGATCTGAG	0.493																																						ENST00000458659.2																			1	Substitution - coding silent(1)	p.S122S(1)	lung(1)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(364-366)tcC>tcG		TSC22 domain family, member 1							118.0	118.0	118.0					13																	45149845		2203	4300	6503	SO:0001819	synonymous_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149845G>C	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.366C>G	13.37:g.45149845G>C						TSC22D1_ENST00000501704.2_Silent_p.S122S	p.S122S	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	856	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	122					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.366C>G	CCDS31966.1																																																																																				0.493	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		127	151	0	0	0	0.000147903	0	127	151				
DAAM1	23002	broad.mit.edu	37	14	59789679	59789679	+	Silent	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:59789679C>T	ENST00000395125.1	+	5	533	c.510C>T	c.(508-510)taC>taT	p.Y170Y	DAAM1_ENST00000360909.3_Silent_p.Y170Y|DAAM1_ENST00000351081.1_Silent_p.Y170Y	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	170	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCATGGACTACGAGACCTCAG	0.448																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(508-510)taC>taT		dishevelled associated activator of morphogenesis 1							139.0	134.0	135.0					14																	59789679		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59789679C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.510C>T	14.37:g.59789679C>T						DAAM1_ENST00000351081.1_Silent_p.Y170Y|DAAM1_ENST00000360909.3_Silent_p.Y170Y	p.Y170Y	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	5	533	+			170			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.510C>T	CCDS9737.1																																																																																				0.448	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		58	67	0	0	0	0.000147903	0	58	67				
STON2	85439	broad.mit.edu	37	14	81744032	81744032	+	Silent	SNP	G	G	A			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:81744032G>A	ENST00000267540.2	-	4	1823	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Silent_p.F541F	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	541	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CTGCATGGATGAAACTCAGGA	0.498																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(1621-1623)ttC>ttT		stonin 2							98.0	98.0	98.0					14																	81744032		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744032G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1623C>T	14.37:g.81744032G>A						STON2_ENST00000267540.2_Silent_p.F541F	p.F541F	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	2035	-			541			SHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.1623C>T	CCDS9875.1																																																																																				0.498	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		50	66	0	0	0	0.000147903	0	50	66				
NPBWR2	2832	broad.mit.edu	37	20	62737969	62737969	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr20:62737969C>A	ENST00000369768.1	-	1	555	c.216G>T	c.(214-216)agG>agT	p.R72S		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	72					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TCTTGGGCGCCCTTAGGATTA	0.617																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(214-216)agG>agT		neuropeptides B/W receptor 2							71.0	59.0	63.0					20																	62737969		2201	4300	6501	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737969C>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.216G>T	20.37:g.62737969C>A	ENSP00000358783:p.Arg72Ser						p.R72S	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	555	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		72					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.216G>T	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687479	0.48097	.	.	ENSG00000125522	ENST00000369768	T	0.39997	1.05	3.74	-0.626	0.11544	GPCR, rhodopsin-like superfamily (1);	0.063428	0.64402	U	0.000015	T	0.43366	0.1244	M	0.62209	1.925	0.28443	N	0.916724	P	0.48834	0.916	P	0.49085	0.6	T	0.44967	-0.9293	10	0.87932	D	0	.	8.7092	0.34374	0.0:0.5513:0.0:0.4486	.	72	P48146	NPBW2_HUMAN	S	72	ENSP00000358783:R72S	ENSP00000358783:R72S	R	-	3	2	NPBWR2	62208413	0.626000	0.27120	0.217000	0.23759	0.510000	0.34073	-0.198000	0.09505	0.100000	0.17581	0.484000	0.47621	AGG		0.617	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		33	25	1	0	4.31634e-10	0.000409698	3.6545e-08	33	25				
NCOR1	9611	broad.mit.edu	37	17	15983374	15983374	+	Silent	SNP	G	G	A			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:15983374G>A	ENST00000268712.3	-	26	3662	c.3405C>T	c.(3403-3405)acC>acT	p.T1135T	NCOR1_ENST00000395851.1_Silent_p.T1151T|NCOR1_ENST00000395857.3_5'Flank	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1135	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGCTCCTGCGGTACCTGAAT	0.463																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3403-3405)acC>acT		nuclear receptor corepressor 1							119.0	104.0	109.0					17																	15983374		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15983374G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3405C>T	17.37:g.15983374G>A						NCOR1_ENST00000395851.1_Silent_p.T1151T	p.T1135T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	26	3662	-			1135			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.3405C>T	CCDS11175.1																																																																																				0.463	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		28	29	0	0	0	0.000227799	0	28	29				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	215	0	0	0	0.00024832	0	4	215				
ALPK2	115701	broad.mit.edu	37	18	56204584	56204584	+	Silent	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr18:56204584G>C	ENST00000361673.3	-	5	3048	c.2835C>G	c.(2833-2835)ctC>ctG	p.L945L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	945						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGAAGAAAGGAGCTGTGTTT	0.532																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(2833-2835)ctC>ctG		alpha-kinase 2							57.0	58.0	57.0					18																	56204584		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204584G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2835C>G	18.37:g.56204584G>C						RP11-1151B14.4_ENST00000591360.1_RNA	p.L945L	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3048	-			945					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.2835C>G	CCDS11966.2																																																																																				0.532	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		15	11	0	0	0	0.000219431	0	15	11				
NUP93	9688	broad.mit.edu	37	16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr16:56782202C>T	ENST00000308159.5	+	2	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.Q15*	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	15					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.Q15*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			1	Substitution - Nonsense(1)	p.Q15*(1)	endometrium(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(43-45)Cag>Tag		nucleoporin 93kDa							67.0	65.0	66.0					16																	56782202		2198	4300	6498	SO:0001587	stop_gained	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782202C>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.43C>T	16.37:g.56782202C>T	ENSP00000310668:p.Gln15*					NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15*	p.Q15*			Q8N1F7	NUP93_HUMAN			2	139	+			15					B3KPQ8|Q14705	Nonsense_Mutation	SNP	ENST00000308159.5	37	c.43C>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003070	0.98605	.	.	ENSG00000102900	ENST00000308159	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0968	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000310668:Q15X	Q	+	1	0	NUP93	55339703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.937000	0.99478	0.650000	0.86243	CAG		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		31	74	0	0	0	0.000339439	0	31	74				
RIMS2	9699	broad.mit.edu	37	8	105261014	105261014	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr8:105261014C>T	ENST00000436393.2	+	25	3857	c.3616C>T	c.(3616-3618)Cgc>Tgc	p.R1206C	RIMS2_ENST00000262231.10_Missense_Mutation_p.R1027C|RIMS2_ENST00000339750.2_Missense_Mutation_p.R124C|RIMS2_ENST00000507740.1_Missense_Mutation_p.R1002C|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1188C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1250					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCTAGTGGGACGCCAGACTCT	0.428										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3004-3006)Cgc>Tgc		regulating synaptic membrane exocytosis 2							96.0	96.0	96.0					8																	105261014		2156	4283	6439	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105261014C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3616C>T	8.37:g.105261014C>T	ENSP00000390665:p.Arg1206Cys	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.R1027C|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1188C|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1206C|RIMS2_ENST00000339750.2_Missense_Mutation_p.R124C	p.R1002C	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		19	3240	+			1250					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3004C>T		.	.	.	.	.	.	.	.	.	.	C	25.1	4.597826	0.87055	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.39229	2.17;1.94;2.01;1.09;1.96;1.89;1.85	5.34	5.34	0.76211	.	.	.	.	.	T	0.65176	0.2666	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.995;1.0;1.0	D;D;D;D;D	0.79784	0.969;0.979;0.957;0.986;0.993	T	0.67389	-0.5683	9	0.87932	D	0	.	19.4079	0.94655	0.0:1.0:0.0:0.0	.	1250;1206;1027;1002;1188	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	1225;1188;1250;1027;1002;1195;1206;124;124	ENSP00000384892:R1188C;ENSP00000262231:R1027C;ENSP00000423559:R1002C;ENSP00000386228:R1195C;ENSP00000390665:R1206C;ENSP00000428478:R124C;ENSP00000342051:R124C	ENSP00000262231:R1027C	R	+	1	0	RIMS2	105330190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.910000	0.69931	2.664000	0.90586	0.650000	0.86243	CGC		0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		17	30	0	0	0	0.000132079	0	17	30				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		7	36	0	0	0	0.000157383	0	7	36				
CELF5	60680	broad.mit.edu	37	19	3282183	3282183	+	Silent	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr19:3282183G>C	ENST00000292672.2	+	7	847	c.810G>C	c.(808-810)gtG>gtC	p.V270V	CELF5_ENST00000541430.2_Silent_p.V270V	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	270					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GTCCCGGCGTGGCCTTCTCAC	0.622																																						ENST00000541430.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(808-810)gtG>gtC		CUGBP, Elav-like family member 5							129.0	108.0	115.0					19																	3282183		2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3282183G>C	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.810G>C	19.37:g.3282183G>C						CELF5_ENST00000292672.2_Silent_p.V270V	p.V270V	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN			7	846	+			270					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.810G>C	CCDS12106.1																																																																																				0.622	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		64	118	0	0	0	0.000147903	0	64	118				
SARAF	51669	broad.mit.edu	37	8	29927254	29927254	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr8:29927254G>T	ENST00000256255.6	-	3	861	c.604C>A	c.(604-606)Cca>Aca	p.P202T	TMEM66_ENST00000545648.1_Missense_Mutation_p.P30T|TMEM66_ENST00000536273.1_Missense_Mutation_p.P30T	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		202					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GAGTACGGTGGAGGAGAATAC	0.488																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(604-606)Cca>Aca		transmembrane protein 66							109.0	95.0	100.0					8																	29927254		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29927254G>T																												ENST00000256255.6:c.604C>A	8.37:g.29927254G>T	ENSP00000256255:p.Pro202Thr					TMEM66_ENST00000536273.1_Missense_Mutation_p.P30T|TMEM66_ENST00000545648.1_Missense_Mutation_p.P30T	p.P202T	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	3	861	-			202					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.604C>A	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.62|18.62	3.662455|3.662455	0.67700|0.67700	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127;ENST00000522794|ENST00000518296	T;T;T;T;T|.	0.40756|.	1.02;1.02;1.02;1.02;1.02|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.112431|.	0.64402|.	D|.	0.000010|.	T|T	0.76364|0.76364	0.3977|0.3977	M|M	0.75447|0.75447	2.3|2.3	0.44042|0.44042	D|D	0.996771|0.996771	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.72982|.	0.979;0.979|.	T|T	0.75230|0.75230	-0.3391|-0.3391	10|5	0.17832|.	T|.	0.49|.	-31.3791|-31.3791	17.6081|17.6081	0.88045|0.88045	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	202;202|.	B3KQQ4;Q96BY9|.	.;TMM66_HUMAN|.	T|Y	202;30;166;30;100;166|71	ENSP00000256255:P202T;ENSP00000441351:P30T;ENSP00000441723:P30T;ENSP00000428323:P100T;ENSP00000429630:P166T|.	ENSP00000256255:P202T|.	P|S	-|-	1|2	0|0	TMEM66|TMEM66	30046796|30046796	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.554000|0.554000	0.35429|0.35429	4.255000|4.255000	0.58804|0.58804	2.765000|2.765000	0.95021|0.95021	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.488	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			32	83	1	0	3.90053e-15	0.000409698	3.38299e-13	32	83				
FCGRT	2217	broad.mit.edu	37	19	50017181	50017181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr19:50017181C>A	ENST00000221466.5	+	3	602	c.116C>A	c.(115-117)tCg>tAg	p.S39*	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Nonsense_Mutation_p.S39*|FCGRT_ENST00000426395.3_Nonsense_Mutation_p.S39*	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	39	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GCGGTGTCCTCGCCTGCCCCG	0.657																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(115-117)tCg>tAg		Fc fragment of IgG, receptor, transporter, alpha							126.0	125.0	125.0					19																	50017181		2203	4300	6503	SO:0001587	stop_gained	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50017181C>A	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.116C>A	19.37:g.50017181C>A	ENSP00000221466:p.Ser39*					FCGRT_ENST00000596975.1_Nonsense_Mutation_p.S39*|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Nonsense_Mutation_p.S39*|FCGRT_ENST00000594823.1_3'UTR	p.S39*	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	3	602	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	39			Alpha-1.		Q5HYM5|Q9HBV7|Q9NZ19	Nonsense_Mutation	SNP	ENST00000221466.5	37	c.116C>A	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	37	6.375891	0.97515	.	.	ENSG00000104870	ENST00000221466;ENST00000426395;ENST00000415900;ENST00000452439	.	.	.	4.6	-2.7	0.06004	.	3.212320	0.01032	N	0.004150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.9996	0.14257	0.5356:0.2817:0.0:0.1827	.	.	.	.	X	39	.	ENSP00000221466:S39X	S	+	2	0	FCGRT	54708993	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.562000	0.05950	-0.238000	0.09724	-1.153000	0.01818	TCG		0.657	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			6	231	1	0	3.59834e-05	3.59834e-05	0.00290811	6	231				
FREM1	158326	broad.mit.edu	37	9	14759843	14759843	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr9:14759843T>C	ENST00000380880.3	-	28	6044	c.5261A>G	c.(5260-5262)gAg>gGg	p.E1754G	FREM1_ENST00000422223.2_Missense_Mutation_p.E1754G|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380894.1_Missense_Mutation_p.E290G|FREM1_ENST00000380881.4_Missense_Mutation_p.E1755G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1754	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCCACATTCTCACAGACTTC	0.388																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(5263-5265)gAg>gGg		FRAS1 related extracellular matrix 1							143.0	133.0	136.0					9																	14759843		1859	4105	5964	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14759843T>C	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5261A>G	9.37:g.14759843T>C	ENSP00000370262:p.Glu1754Gly					FREM1_ENST00000422223.2_Missense_Mutation_p.E1754G|FREM1_ENST00000380880.3_Missense_Mutation_p.E1754G|FREM1_ENST00000380894.1_Missense_Mutation_p.E290G|FREM1_ENST00000486223.1_5'UTR	p.E1755G			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	29	6079	-			1754			Calx-beta.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.5264A>G	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361384	0.82353	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.86	5.86	0.93980	Na-Ca exchanger/integrin-beta4 (1);	0.101697	0.64402	D	0.000003	T	0.80879	0.4708	M	0.89904	3.07	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84869	0.0824	10	0.72032	D	0.01	-24.6016	16.2479	0.82454	0.0:0.0:0.0:1.0	.	1754;290	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	G	1755;1754;290;1754;167	ENSP00000370263:E1755G;ENSP00000412940:E1754G;ENSP00000370278:E290G;ENSP00000370262:E1754G	ENSP00000370262:E1754G	E	-	2	0	FREM1	14749843	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	5.383000	0.66219	2.241000	0.73720	0.533000	0.62120	GAG		0.388	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		20	29	0	0	0	0.000132079	0	20	29				
CCL13	6357	broad.mit.edu	37	17	32683581	32683581	+	Silent	SNP	C	C	G			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:32683581C>G	ENST00000225844.2	+	1	111	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	12					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				GCCTGCTGCTCATGACAGCAG	0.502																																						ENST00000225844.2																			0				large_intestine(1)|prostate(1)	2						c.(34-36)ctC>ctG		chemokine (C-C motif) ligand 13							185.0	174.0	178.0					17																	32683581		2203	4300	6503	SO:0001819	synonymous_variant	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32683581C>G	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"""Chemokine ligands"", ""Endogenous ligands"""	10611	protein-coding gene	gene with protein product		601391	"""small inducible cytokine subfamily A (Cys-Cys), member 13"""	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.36C>G	17.37:g.32683581C>G							p.L12L	NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN			1	111	+		Ovarian(249;0.0443)|Breast(31;0.151)	12					O95689|Q6ICQ6	Silent	SNP	ENST00000225844.2	37	c.36C>G	CCDS11281.1																																																																																				0.502	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408		22	26	0	0	0	0.000586117	0	22	26				
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr19:57955885C>G	ENST00000334181.4	+	3	1619	c.1369C>G	c.(1369-1371)Cag>Gag	p.Q457E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	457					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.Q457E(1)|p.Q370E(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCACCAGAAAATCCA	0.423																																						ENST00000334181.4																			2	Substitution - Missense(2)	p.Q457E(1)|p.Q370E(1)	endometrium(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1369-1371)Cag>Gag		zinc finger protein 749							92.0	89.0	90.0					19																	57955885		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955885C>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1369C>G	19.37:g.57955885C>G	ENSP00000333980:p.Gln457Glu					AC004076.9_ENST00000596831.1_Intron	p.Q457E	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1619	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	457						Missense_Mutation	SNP	ENST00000334181.4	37	c.1369C>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410685	0.25465	.	.	ENSG00000186230	ENST00000334181	T	0.07327	3.2	1.62	0.523	0.17060	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	L	0.38649	1.16	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.33904	-0.9850	9	0.52906	T	0.07	.	5.9852	0.19430	0.5886:0.4114:0.0:0.0	.	457	O43361	ZN749_HUMAN	E	457	ENSP00000333980:Q457E	ENSP00000333980:Q457E	Q	+	1	0	ZNF749	62647697	.	.	0.001000	0.08648	0.750000	0.42670	.	.	0.202000	0.20498	0.650000	0.86243	CAG		0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		3	128	0	0	0	6.4e-05	0	3	128				
KRTAP5-4	387267	broad.mit.edu	37	11	1643252	1643252	+	Silent	SNP	A	A	G	rs190925107		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr11:1643252A>G	ENST00000399682.1	-	1	116	c.72T>C	c.(70-72)tgT>tgC	p.C24C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.C24C(5)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		agccagagccacagcccccac	0.687																																						ENST00000399682.1																			5	Substitution - coding silent(5)	p.C24C(5)	endometrium(4)|prostate(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(70-72)tgT>tgC		keratin associated protein 5-4																																				SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643252A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.72T>C	11.37:g.1643252A>G							p.C24C	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	116	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	24						Silent	SNP	ENST00000399682.1	37	c.72T>C																																																																																					0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		6	40	0	0	0	0.000157383	0	6	40				
PDCD1	5133	broad.mit.edu	37	2	242794494	242794494	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr2:242794494C>T	ENST00000334409.5	-	3	517	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	150					apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTGGGCACTTCTGCCCTTCTC	0.677																																						ENST00000334409.5																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(448-450)Gaa>Aaa		programmed cell death 1							14.0	18.0	17.0					2																	242794494		2195	4292	6487	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794494C>T	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.448G>A	2.37:g.242794494C>T	ENSP00000335062:p.Glu150Lys						p.E150K	NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	3	517	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	150					O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.448G>A	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353940	0.24512	.	.	ENSG00000188389	ENST00000334409	T	0.64260	-0.09	3.28	1.46	0.22682	.	0.253106	0.27298	N	0.020005	T	0.49898	0.1584	M	0.62723	1.935	0.09310	N	1	P	0.40000	0.698	B	0.33846	0.171	T	0.47328	-0.9126	10	0.56958	D	0.05	-7.8649	5.5708	0.17196	0.0:0.7385:0.0:0.2615	.	150	Q15116	PDCD1_HUMAN	K	150	ENSP00000335062:E150K	ENSP00000335062:E150K	E	-	1	0	PDCD1	242443167	0.009000	0.17119	0.000000	0.03702	0.063000	0.16089	1.459000	0.35234	0.398000	0.25338	0.305000	0.20034	GAA		0.677	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		9	21	0	0	0	3.86212e-05	0	9	21				
ACAD10	80724	broad.mit.edu	37	12	112182761	112182761	+	Missense_Mutation	SNP	C	C	G	rs368355800		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr12:112182761C>G	ENST00000313698.4	+	13	2184	c.2029C>G	c.(2029-2031)Cgt>Ggt	p.R677G	ACAD10_ENST00000455480.2_Missense_Mutation_p.R708G|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.R677G|ACAD10_ENST00000392636.2_Missense_Mutation_p.R279G	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	677						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CATGGAGCAACGTGTGTACCC	0.582																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2122-2124)Cgt>Ggt		acyl-CoA dehydrogenase family, member 10		C	GLY/ARG,GLY/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	62.0	62.0		2029,2122	2.7	0.0	12		62	0,8600		0,0,4300	no	missense,missense	ACAD10	NM_025247.5,NM_001136538.1	125,125	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	677/1060,708/1091	112182761	1,13005	2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182761C>G	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2029C>G	12.37:g.112182761C>G	ENSP00000325137:p.Arg677Gly					ACAD10_ENST00000392636.2_Missense_Mutation_p.R279G|ACAD10_ENST00000313698.4_Missense_Mutation_p.R677G|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.R677G	p.R708G	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			14	2299	+			677					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2122C>G	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	8.159	0.789027	0.16258	2.27E-4	0.0	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698	D;T;D;D	0.99730	-6.56;3.28;-6.56;-6.56	5.53	2.65	0.31530	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	1.063850	0.07295	N	0.873168	D	0.98817	0.9601	M	0.62723	1.935	0.09310	N	1	B;B;B	0.15473	0.013;0.001;0.003	B;B;B	0.14023	0.009;0.004;0.01	D	0.99925	1.1280	10	0.72032	D	0.01	.	4.7976	0.13279	0.1547:0.6104:0.0:0.2349	.	708;677;677	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	G	279;677;677;708;70;677	ENSP00000376411:R279G;ENSP00000446959:R677G;ENSP00000389813:R708G;ENSP00000325137:R677G	ENSP00000325137:R677G	R	+	1	0	ACAD10	110667144	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-0.094000	0.11094	0.660000	0.30964	-0.126000	0.14955	CGT		0.582	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		57	48	0	0	0	0.000147903	0	57	48				
FAM86EP	348926	broad.mit.edu	37	4	3952901	3952901	+	RNA	SNP	A	A	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr4:3952901A>T	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CACCGGGCATACTTGACTGAC	0.552																																						ENST00000281228.8																			0																																																			0							g.chr4:3952901A>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3952901A>T						FAM86EP_ENST00000313946.8_RNA								0	206	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.552	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			5	64	0	0	0	1.23904e-05	0	5	64				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	79	0	0	0	8.12818e-05	0	6	79				
NDUFS5	4725	broad.mit.edu	37	1	39494585	39494586	+	Frame_Shift_Ins	INS	-	-	TA	rs541997196|rs372457176		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr1:39494585_39494586insTA	ENST00000372969.3	+	2	276_277	c.189_190insTA	c.(190-192)gtafs	p.V64fs	NDUFS5_ENST00000372967.3_Frame_Shift_Ins_p.V64fs	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	64					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			ATGATGATTTCGTAGAGTGTTT	0.396																																						ENST00000372969.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5						c.(187-192)tttagafs		NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	NADH(DB00157)																																			SO:0001589	frameshift_variant	4725				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr1:39494585_39494586insTA	AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"""Mitochondrial respiratory chain complex / Complex I"""	7712	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"""	603847	"""NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"""			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	Exception_encountered	1.37:g.39494585_39494586insTA	ENSP00000362060:p.Val64fs					NDUFS5_ENST00000372967.3_Frame_Shift_Ins_p.R64fs	p.R64fs	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		2	276_277	+	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	64						Frame_Shift_Ins	INS	ENST00000372969.3	37	c.189_190insTA	CCDS434.1																																																																																				0.396	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552		69	72						69	72	---	---	---	---
CIDECP	152302	broad.mit.edu	37	3	10059779	10059779	+	RNA	DEL	A	A	-			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr3:10059779delA	ENST00000432401.1	-	0	505									cell death-inducing DFFA-like effector c pseudogene																		GAGGGCACGCAAGTCAAAACC	0.572																																						ENST00000432401.1																			0																																																			0							g.chr3:10059779delA	AF279614		3p25.3	2007-07-26			ENSG00000186162	ENSG00000186162			24230	pseudogene	pseudogene							Standard	NR_002786		Approved	CICE			OTTHUMG00000155323		3.37:g.10059779delA														0	505	-									RNA	DEL	ENST00000432401.1	37																																																																																						0.572	CIDECP-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339463.1			17	12						17	12	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29294232	29294233	+	lincRNA	INS	-	-	CTTTCTTT	rs200078616|rs369333454|rs28856588		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr16:29294232_29294233insCTTTCTTT	ENST00000398878.3	+	0	214							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		ttccttccttcctttctttctt	0.411																																						ENST00000398878.3																			0																																																			0							g.chr16:29294232_29294233insCTTTCTTT	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29294233_29294240dupCTTTCTTT														0	214	+									RNA	INS	ENST00000398878.3	37																																																																																						0.411	SNX29P2-202	KNOWN	basic	lincRNA	lincRNA		NR_002939		2	4						2	4	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-	rs147551453		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr18:61388270_61388271delAC	ENST00000382749.5	+	0	1019				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61388270_61388271delAC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388280_61388281delAC						SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	836	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	DEL	ENST00000382749.5	37																																																																																						0.386	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		3	6						3	6	---	---	---	---
