#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
BICD1	636	broad.mit.edu	37	12	32480404	32480404	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr12:32480404G>A	ENST00000281474.5	+	5	1118	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	BICD1_ENST00000548411.1_Missense_Mutation_p.E339K	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	339					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGTAGAGCGGGAAAAGGCCAT	0.507																																						uc001rku.3																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1015-1017)Gaa>Aaa		Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.							83.0	82.0	82.0					12																	32480404		2203	4300	6503	SO:0001583	missense	636				RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton	g.chr12:32480404G>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1015G>A	12.37:g.32480404G>A	ENSP00000281474:p.Glu339Lys					BICD1_uc001rkv.3_Missense_Mutation_p.E339K|BICD1_uc010skd.2_Non-coding_Transcript	p.E339K	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		4	1096	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		339					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1015G>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902452	0.92035	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.61392	0.11;0.11	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.77792	-0.2455	10	0.41790	T	0.15	.	19.1424	0.93450	0.0:0.0:1.0:0.0	.	339;339	F8W113;Q96G01	.;BICD1_HUMAN	K	339	ENSP00000446793:E339K;ENSP00000281474:E339K	ENSP00000281474:E339K	E	+	1	0	BICD1	32371671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.556000	0.98127	2.597000	0.87782	0.655000	0.94253	GAA		0.507	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		31	84	0	0	0	1	0	31	84				
EPS8L1	54869	broad.mit.edu	37	19	55594786	55594786	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:55594786G>A	ENST00000201647.6	+	13	1311	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	EPS8L1_ENST00000586329.1_Missense_Mutation_p.E401K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E292K|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E355K|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E73K	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	419					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATACAGACCCGAGTTCTTCAG	0.672																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1255-1257)Gag>Aag		Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.							13.0	16.0	15.0					19																	55594786		2130	4149	6279	SO:0001583	missense	54869					cytoplasm		g.chr19:55594786G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1255G>A	19.37:g.55594786G>A	ENSP00000201647:p.Glu419Lys					EPS8L1_uc010ess.1_Missense_Mutation_p.E401K|EPS8L1_uc010est.1_Missense_Mutation_p.E419K|EPS8L1_uc010yfr.2_Missense_Mutation_p.E355K|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.E292K|EPS8L1_uc002qiv.3_Missense_Mutation_p.E65K|EPS8L1_uc002qiw.3_Missense_Mutation_p.E166K	p.E419K	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1359	+			419					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1255G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	6.514	0.462969	0.12402	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.05319	3.7;3.46;3.47	3.51	2.46	0.29980	.	0.614309	0.15712	N	0.248341	T	0.02848	0.0085	N	0.24115	0.695	0.31608	N	0.651927	B;B;B;B;B	0.33857	0.429;0.048;0.041;0.008;0.018	B;B;B;B;B	0.20184	0.028;0.013;0.013;0.004;0.005	T	0.29549	-1.0008	10	0.02654	T	1	-7.8796	7.1314	0.25504	0.1332:0.0:0.8668:0.0	.	355;401;166;292;419	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	K	401;419;355;292;73	ENSP00000201647:E419K;ENSP00000437541:E355K;ENSP00000245618:E292K	ENSP00000201647:E419K	E	+	1	0	EPS8L1	60286598	0.210000	0.23517	0.545000	0.28153	0.555000	0.35460	1.283000	0.33237	0.597000	0.29811	0.561000	0.74099	GAG		0.672	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		3	17	0	0	0	1	0	3	17				
ADAMTS8	11095	broad.mit.edu	37	11	130289047	130289047	+	Silent	SNP	C	C	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr11:130289047C>A	ENST00000257359.6	-	2	1567	c.861G>T	c.(859-861)ggG>ggT	p.G287G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	287	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCAGTGTAAGCCCCCCATTGT	0.557																																						uc001qgg.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(859-861)ggG>ggT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.							153.0	163.0	160.0					11																	130289047		2006	4176	6182	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130289047C>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.861G>T	11.37:g.130289047C>A							p.G287G	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	1	1219	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	287			Peptidase M12B.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.861G>T	CCDS41732.1																																																																																				0.557	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		80	184	0	0	0	1	0	80	184				
CATSPERD	257062	broad.mit.edu	37	19	5749174	5749174	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:5749174G>A	ENST00000381624.3	+	11	1028	c.967G>A	c.(967-969)Gtg>Atg	p.V323M	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	323					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCTGGGCATCGTGCCAAGTTC	0.438																																						uc002mda.3																			0											c.(967-969)Gtg>Atg		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.							86.0	86.0	86.0					19																	5749174		1875	4107	5982	SO:0001583	missense	257062					integral to membrane		g.chr19:5749174G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.967G>A	19.37:g.5749174G>A	ENSP00000371037:p.Val323Met					CATSPERD_uc010duj.1_5'UTR	p.V323M	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			10	1028	+			323					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.967G>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	g	10.85	1.467278	0.26335	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.22945	1.93	3.26	0.932	0.19466	.	0.387969	0.14997	U	0.286320	T	0.10809	0.0264	N	0.11427	0.14	0.09310	N	0.999996	B	0.24675	0.109	B	0.16722	0.016	T	0.25813	-1.0121	10	0.28530	T	0.3	-1.9269	5.5105	0.16878	0.2342:0.5496:0.2161:0.0	.	323	Q86XM0	TM146_HUMAN	M	249;323	ENSP00000371037:V323M	ENSP00000371037:V323M	V	+	1	0	TMEM146	5700174	0.000000	0.05858	0.011000	0.14972	0.139000	0.21198	-0.195000	0.09546	0.347000	0.23924	-0.630000	0.03990	GTG		0.438	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		24	41	0	0	0	1	0	24	41				
ATP11C	286410	broad.mit.edu	37	X	138869347	138869347	+	Missense_Mutation	SNP	C	C	G	rs147128476		TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chrX:138869347C>G	ENST00000327569.3	-	15	1684	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	ATP11C_ENST00000361648.2_Missense_Mutation_p.R529T|ATP11C_ENST00000359686.2_Missense_Mutation_p.R529T|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Missense_Mutation_p.R526T|ATP11C_ENST00000370543.1_Missense_Mutation_p.R529T	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	529					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TATTTCTTTTCTTTGGTTCTC	0.348																																						uc004faz.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1585-1587)aGa>aCa		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							114.0	88.0	97.0					X																	138869347		2202	4299	6501	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138869347C>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1586G>C	X.37:g.138869347C>G	ENSP00000332756:p.Arg529Thr					ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R529T	p.R529T	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			14	1685	-	Acute lymphoblastic leukemia(192;0.000127)		529					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1586G>C	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307512	0.23821	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.76	4.79	0.61399	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.210800	0.47093	D	0.000260	T	0.31513	0.0799	N	0.02736	-0.51	0.37695	D	0.924005	B;B	0.10296	0.001;0.003	B;B	0.15870	0.004;0.014	T	0.28427	-1.0044	10	0.33141	T	0.24	.	3.5993	0.08019	0.0:0.6415:0.0:0.3585	.	529;529	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	T	526;529;529;529;529	ENSP00000359588:R526T;ENSP00000355165:R529T;ENSP00000332756:R529T;ENSP00000359574:R529T;ENSP00000352715:R529T	ENSP00000332756:R529T	R	-	2	0	ATP11C	138697013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.873000	0.39558	2.422000	0.82143	0.594000	0.82650	AGA		0.348	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		22	59	0	0	0	1	0	22	59				
DOCK2	1794	broad.mit.edu	37	5	169474617	169474617	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr5:169474617G>A	ENST00000256935.8	+	40	4150	c.4070G>A	c.(4069-4071)cGg>cAg	p.R1357Q	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Splice_Site_p.R418Q|DOCK2_ENST00000520908.1_Splice_Site_p.R849Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTTCCTGCGGGTGAGTTTG	0.542																																						uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.e40+1		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							66.0	66.0	66.0					5																	169474617		2203	4300	6503	SO:0001630	splice_region_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	g.chr5:169474617G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4071+1G>A	5.37:g.169474617G>A						DOCK2_uc011der.2_Splice_Site|DOCK2_uc010jjm.3_Splice_Site_p.R849_splice	p.R1357_splice	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		40	4151	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1357			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Splice_Site	SNP	ENST00000256935.8	37	c.4071_splice	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100157	0.76983	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10573	3.52;3.15;2.86	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	L	0.51853	1.615	0.45946	D	0.998777	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.948	T	0.00958	-1.1500	10	0.25106	T	0.35	.	18.7624	0.91858	0.0:0.0:1.0:0.0	.	849;1357	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	1357;849;418	ENSP00000256935:R1357Q;ENSP00000429283:R849Q;ENSP00000438827:R418Q	ENSP00000256935:R1357Q	R	+	2	0	DOCK2	169407195	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.869000	0.99810	2.419000	0.82065	0.561000	0.74099	CGG		0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Missense_Mutation	5	83	0	0	0	1	0	5	83				
ADRA2B	151	broad.mit.edu	37	2	96781258	96781258	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr2:96781258C>A	ENST00000409345.3	-	1	726	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	211			G -> A (in dbSNP:rs9333568). {ECO:0000269|Ref.6}.		activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCAGGCCCCCCCTTGGCCCTG	0.622																																						uc021vlh.1																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(631-633)Ggg>Tgg		Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						31.0	35.0	34.0					2																	96781258		2038	4174	6212	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781258C>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.631G>T	2.37:g.96781258C>A	ENSP00000387281:p.Gly211Trp						p.G211W	NM_000682	NP_000673	P18089	ADA2B_HUMAN			0	631	-			211		G -> A (in dbSNP:rs9333568).			Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.631G>T	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	5.157	0.214555	0.09810	.	.	ENSG00000222040	ENST00000409345	T	0.72725	-0.68	4.97	-1.15	0.09709	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.71804	0.3383	M	0.91249	3.19	0.09310	N	1	B	0.13145	0.007	B	0.20577	0.03	T	0.66878	-0.5812	9	0.72032	D	0.01	.	4.5321	0.12010	0.0:0.3194:0.3294:0.3511	.	211	P18089	ADA2B_HUMAN	W	211	ENSP00000387281:G211W	ENSP00000387281:G211W	G	-	1	0	ADRA2B	96144985	0.000000	0.05858	0.002000	0.10522	0.345000	0.29048	-0.014000	0.12656	-0.083000	0.12618	-1.808000	0.00615	GGG		0.622	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			13	29	0	0	0	1	0	13	29				
PPEF1	5475	broad.mit.edu	37	X	18807364	18807364	+	Silent	SNP	A	A	G			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chrX:18807364A>G	ENST00000361511.4	+	13	1532	c.1038A>G	c.(1036-1038)gaA>gaG	p.E346E	PPEF1_ENST00000349874.5_Silent_p.E346E|PPEF1_ENST00000544635.1_Silent_p.E281E|PPEF1_ENST00000543630.1_Silent_p.E346E|PPEF1_ENST00000359763.6_Silent_p.E293E	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	346	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CTCCTACTGAACACTTAACAG	0.418																																						uc004cyq.3																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1036-1038)gaA>gaG		Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.							129.0	100.0	110.0					X																	18807364		2203	4300	6503	SO:0001819	synonymous_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18807364A>G	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1038A>G	X.37:g.18807364A>G						PPEF1_uc004cyp.3_Intron|PPEF1_uc004cyr.3_Silent_p.E346E|PPEF1_uc004cys.3_Silent_p.E346E|PPEF1_uc011mja.2_Silent_p.E281E|PPEF1_uc011mjb.2_Silent_p.E290E	p.E346E	NM_006240	NP_006231	O14829	PPE1_HUMAN			12	1519	+	Hepatocellular(33;0.183)		346			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.1038A>G	CCDS14188.1																																																																																				0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		7	122	0	0	0	1	0	7	122				
DNAJB9	4189	broad.mit.edu	37	7	108213643	108213643	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr7:108213643T>C	ENST00000249356.3	+	3	1064	c.518T>C	c.(517-519)aTg>aCg	p.M173T	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	173					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTGAAGATATGGAGAAAATG	0.393																																						uc003vfn.3																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(517-519)aTg>aCg		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 9 (DNAJB9), mRNA.							145.0	144.0	144.0					7																	108213643		2203	4300	6503	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108213643T>C	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.518T>C	7.37:g.108213643T>C	ENSP00000249356:p.Met173Thr						p.M173T	NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN			2	887	+			173						Missense_Mutation	SNP	ENST00000249356.3	37	c.518T>C	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.295580	0.40594	.	.	ENSG00000128590	ENST00000249356	T	0.60548	0.18	5.86	5.86	0.93980	.	0.086852	0.85682	D	0.000000	T	0.53334	0.1790	M	0.67953	2.075	0.80722	D	1	P	0.38978	0.652	B	0.30855	0.121	T	0.56269	-0.8007	9	.	.	.	.	15.448	0.75248	0.0:0.0:0.0:1.0	.	173	Q9UBS3	DNJB9_HUMAN	T	173	ENSP00000249356:M173T	.	M	+	2	0	DNAJB9	108000879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.477000	0.81069	2.240000	0.73641	0.533000	0.62120	ATG		0.393	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			52	93	0	0	0	1	0	52	93				
RNF148	378925	broad.mit.edu	37	7	122342453	122342453	+	Missense_Mutation	SNP	C	C	T	rs189837730	byFrequency	TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr7:122342453C>T	ENST00000434824.1	-	1	568	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	118	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TCTGCTGCCACGTTGATTTTA	0.483													C|||	3	0.000599042	0.0	0.0	5008	,	,		20581	0.003		0.0	False		,,,				2504	0.0					uc003vkk.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(352-354)Gtg>Atg		Homo sapiens ring finger protein 148 (RNF148), mRNA.							221.0	219.0	220.0					7																	122342453		2035	4183	6218	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342453C>T	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.352G>A	7.37:g.122342453C>T	ENSP00000388207:p.Val118Met					CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	p.V118M	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			0	569	-			118			PA.		A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.352G>A	CCDS47692.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	9.699	1.153993	0.21371	.	.	ENSG00000235631	ENST00000434824	T	0.08896	3.04	4.95	3.1	0.35709	Protease-associated domain, PA (1);	.	.	.	.	T	0.06508	0.0167	L	0.55834	1.745	0.80722	D	1	B	0.17038	0.02	B	0.24541	0.054	T	0.12243	-1.0555	9	0.30078	T	0.28	.	9.2719	0.37677	0.2638:0.4795:0.2567:0.0	.	118	Q8N7C7	RN148_HUMAN	M	118	ENSP00000388207:V118M	ENSP00000388207:V118M	V	-	1	0	RNF148	122129689	0.092000	0.21681	0.988000	0.46212	0.998000	0.95712	0.602000	0.24134	0.567000	0.29293	0.555000	0.69702	GTG		0.483	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		31	271	0	0	0	1	0	31	271				
ZFP36	7538	broad.mit.edu	37	19	39898883	39898883	+	Silent	SNP	G	G	A	rs535257605		TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:39898883G>A	ENST00000248673.3	+	2	583	c.525G>A	c.(523-525)ccG>ccA	p.P175P	ZFP36_ENST00000597629.1_Silent_p.P181P|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	175					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGCGGCCCCGGGCCACCCTC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15145	0.0		0.0	False		,,,				2504	0.0				NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(523-525)ccG>ccA		Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.							54.0	67.0	62.0					19																	39898883		2202	4298	6500	SO:0001819	synonymous_variant	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898883G>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.525G>A	19.37:g.39898883G>A							p.P175P	NM_003407	NP_003398	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	583	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		175					B2RA54	Silent	SNP	ENST00000248673.3	37	c.525G>A																																																																																					0.667	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				48	96	0	0	0	1	0	48	96				
TGFBRAP1	9392	broad.mit.edu	37	2	105924122	105924122	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr2:105924122C>T	ENST00000393359.2	-	2	1063	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V213I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	213	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATCCTCTTGACGATCGGCGGC	0.592																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(637-639)Gtc>Atc		Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.							96.0	108.0	103.0					2																	105924122		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924122C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.637G>A	2.37:g.105924122C>T	ENSP00000377027:p.Val213Ile					TGFBRAP1_uc002tcr.4_Missense_Mutation_p.V213I	p.V213I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			1	721	-			213			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.637G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094654	0.94149	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.05382	3.45;3.45	5.32	5.32	0.75619	Citron-like (2);	0.068722	0.64402	D	0.000016	T	0.08582	0.0213	L	0.33668	1.02	0.80722	D	1	P	0.48640	0.913	P	0.46076	0.503	T	0.43163	-0.9408	10	0.13470	T	0.59	-42.3827	19.1899	0.93660	0.0:1.0:0.0:0.0	.	213	Q8WUH2	TGFA1_HUMAN	I	213	ENSP00000377027:V213I;ENSP00000258449:V213I	ENSP00000258449:V213I	V	-	1	0	TGFBRAP1	105290554	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.907000	0.69908	2.760000	0.94817	0.655000	0.94253	GTC		0.592	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		13	161	0	0	0	1	0	13	161				
