#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
RALGPS2	55103	broad.mit.edu	37	1	178846740	178846740	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:178846740A>G	ENST00000367635.3	+	9	1053	c.715A>G	c.(715-717)Att>Gtt	p.I239V	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.I239V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	239	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCTTCGAATAATTTCTGATTT	0.338																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(715-717)Att>Gtt		Ral GEF with PH domain and SH3 binding motif 2							59.0	60.0	60.0					1																	178846740		2203	4299	6502	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178846740A>G	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.715A>G	1.37:g.178846740A>G	ENSP00000356607:p.Ile239Val					RALGPS2_ENST00000367634.2_Missense_Mutation_p.I239V|RALGPS2_ENST00000324778.4_Missense_Mutation_p.I204V|RALGPS2_ENST00000477383.1_3'UTR	p.I239V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			9	1053	+			239			Ras-GEF.		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.715A>G	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770490	0.90108	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.35236	1.32;1.32;1.32	5.83	5.83	0.93111	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.104678	0.64402	D	0.000005	T	0.49881	0.1583	M	0.82716	2.605	0.80722	D	1	P;P	0.42973	0.796;0.627	P;P	0.44422	0.449;0.449	T	0.56306	-0.8001	10	0.52906	T	0.07	.	15.8536	0.78956	1.0:0.0:0.0:0.0	.	239;239	B7Z7B1;Q86X27	.;RGPS2_HUMAN	V	239;239;204	ENSP00000356607:I239V;ENSP00000356606:I239V;ENSP00000313613:I204V	ENSP00000313613:I204V	I	+	1	0	RALGPS2	177113363	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.226000	0.72624	0.459000	0.35465	ATT		0.338	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		9	35	0	0	0	0.307466	0	9	35				
CCDC88A	55704	broad.mit.edu	37	2	55522862	55522862	+	Missense_Mutation	SNP	C	C	T	rs138449414	byFrequency	TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr2:55522862C>T	ENST00000436346.1	-	31	6263	c.5422G>A	c.(5422-5424)Gtg>Atg	p.V1808M	CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1780M|CCDC88A_ENST00000422883.2_Missense_Mutation_p.V309M|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1807M|CCDC88A_ENST00000413716.2_Splice_Site_p.V1733M	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1808					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTGAGATCACGCTGCTTGCA	0.423																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(5422-5424)Gtg>Atg		coiled-coil domain containing 88A		C	MET/VAL,MET/VAL	0,4406		0,0,2203	175.0	151.0	159.0		5419,5338	5.4	1.0	2	dbSNP_134	159	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CCDC88A	NM_001135597.1,NM_018084.4	21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1807/1871,1780/1844	55522862	2,13004	2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55522862C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5422G>A	2.37:g.55522862C>T	ENSP00000410608:p.Val1808Met					CCDC88A_ENST00000413716.2_Splice_Site_p.V1733_splice|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1807M|CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1780M|CCDC88A_ENST00000422883.2_Missense_Mutation_p.V309M	p.V1808M	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			31	6263	-			1808					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.5422G>A		.	.	.	.	.	.	.	.	.	.	C	15.35	2.808616	0.50421	0.0	2.33E-4	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576	T;T;T;T;T;T	0.67523	1.65;1.37;1.87;-0.27;1.55;0.49	5.37	5.37	0.77165	.	0.160627	0.28436	U	0.015360	T	0.73713	0.3622	N	0.24115	0.695	0.54753	D	0.999988	B;D;D;D;D;D;D	0.89917	0.377;1.0;1.0;1.0;1.0;1.0;1.0	B;D;D;D;P;D;D	0.87578	0.009;0.998;0.996;0.994;0.904;0.998;0.998	T	0.76631	-0.2888	10	0.62326	D	0.03	-11.582	19.469	0.94954	0.0:1.0:0.0:0.0	.	1733;1780;1725;309;1808;1807;1779	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;.;.;GRDN_HUMAN;.;.	M	1807;1780;1808;309;825;1733;983	ENSP00000338728:V1807M;ENSP00000263630:V1780M;ENSP00000410608:V1808M;ENSP00000390012:V825M;ENSP00000404431:V1733M;ENSP00000405080:V983M	ENSP00000263630:V1780M	V	-	1	0	CCDC88A	55376366	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.142000	0.77339	2.649000	0.89929	0.655000	0.94253	GTG		0.423	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		27	89	0	0	0	0.681144	0	27	89				
ABCA4	24	broad.mit.edu	37	1	94512588	94512588	+	Silent	SNP	T	T	C			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:94512588T>C	ENST00000370225.3	-	19	2891	c.2805A>G	c.(2803-2805)gtA>gtG	p.V935V	ABCA4_ENST00000535735.1_Silent_p.V861V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	935	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		V -> A (in STGD1). {ECO:0000269|PubMed:11527935}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAAAATCTTTACCAGATTCT	0.498																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2803-2805)gtA>gtG		ATP-binding cassette, sub-family A (ABC1), member 4							142.0	154.0	150.0					1																	94512588		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512588T>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2805A>G	1.37:g.94512588T>C						ABCA4_ENST00000535735.1_Silent_p.V861V	p.V935V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2891	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	935		V -> A (in STGD1).	ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2805A>G	CCDS747.1																																																																																				0.498	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		49	175	0	0	0	0.870114	0	49	175				
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	lincRNA	SNP	T	T	G			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468																																						ENST00000423249.1																			0																																																			0							g.chr1:143403554T>G																													1.37:g.143403554T>G														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.468	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			3	17	0	0	0	0.150653	0	3	17				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	33	0	0	0	0.184627	0	4	33				
TBK1	29110	broad.mit.edu	37	12	64891007	64891007	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr12:64891007G>A	ENST00000331710.5	+	18	2266	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	643					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TATTGAAGAAGAAGTATCAAA	0.308																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(1927-1929)Gaa>Aaa		TANK-binding kinase 1							101.0	99.0	100.0					12																	64891007		2202	4296	6498	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64891007G>A	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1927G>A	12.37:g.64891007G>A	ENSP00000329967:p.Glu643Lys						p.E643K	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	18	2266	+			643					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.1927G>A	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032308	0.93575	.	.	ENSG00000183735	ENST00000331710	T	0.20598	2.06	5.41	5.41	0.78517	.	0.124393	0.56097	D	0.000030	T	0.17023	0.0409	L	0.29908	0.895	0.80722	D	1	P	0.40970	0.734	B	0.34652	0.187	T	0.02925	-1.1093	9	.	.	.	-14.7948	19.561	0.95373	0.0:0.0:1.0:0.0	.	643	Q9UHD2	TBK1_HUMAN	K	643	ENSP00000329967:E643K	.	E	+	1	0	TBK1	63177274	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.902000	0.87389	2.710000	0.92621	0.491000	0.48974	GAA		0.308	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		7	113	0	0	0	0.248553	0	7	113				
DDX56	54606	broad.mit.edu	37	7	44607781	44607781	+	Silent	SNP	C	C	T			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr7:44607781C>T	ENST00000258772.5	-	12	1531	c.1425G>A	c.(1423-1425)cgG>cgA	p.R475R	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.R435R	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	475					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						GTAGGTCATGCCGCAGCAGCT	0.592																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1423-1425)cgG>cgA		DEAD (Asp-Glu-Ala-Asp) box helicase 56							90.0	84.0	86.0					7																	44607781		2203	4300	6503	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44607781C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.1425G>A	7.37:g.44607781C>T						DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.R435R	p.R475R	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			12	1531	-			475					A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.1425G>A	CCDS5492.1																																																																																				0.592	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		3	39	0	0	0	0.115264	0	3	39				
TAS2R39	259285	broad.mit.edu	37	7	142881419	142881419	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr7:142881419A>C	ENST00000446620.1	+	1	908	c.908A>C	c.(907-909)tAc>tCc	p.Y303S		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	303					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.Y303S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ATGGCTGCCTACCCTGCCAGC	0.458																																						ENST00000446620.1																			1	Substitution - Missense(1)	p.Y303S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(907-909)tAc>tCc		taste receptor, type 2, member 39							58.0	56.0	56.0					7																	142881419		1900	4123	6023	SO:0001583	missense	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142881419A>C	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.908A>C	7.37:g.142881419A>C	ENSP00000405095:p.Tyr303Ser						p.Y303S	NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN			1	908	+	Melanoma(164;0.059)		303					A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	c.908A>C	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454346	0.43634	.	.	ENSG00000236398	ENST00000446620	T	0.01126	5.3	4.8	2.26	0.28386	.	.	.	.	.	T	0.06096	0.0158	M	0.88704	2.975	0.29713	N	0.839229	D	0.89917	1.0	D	0.83275	0.996	T	0.17137	-1.0379	9	0.87932	D	0	.	2.4053	0.04411	0.5972:0.1599:0.0891:0.1539	.	303	P59534	T2R39_HUMAN	S	303	ENSP00000405095:Y303S	ENSP00000405095:Y303S	Y	+	2	0	TAS2R39	142591541	0.873000	0.30073	0.435000	0.26784	0.537000	0.34900	2.502000	0.45398	0.363000	0.24346	0.528000	0.53228	TAC		0.458	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881		8	40	0	0	0	0.520397	0	8	40				
PRRG1	5638	broad.mit.edu	37	X	37312552	37312552	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chrX:37312552G>A	ENST00000542554.1	+	5	607	c.335G>A	c.(334-336)aGa>aAa	p.R112K	PRRG1_ENST00000449135.2_Missense_Mutation_p.R112K|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Missense_Mutation_p.R112K|PRRG1_ENST00000543642.1_Missense_Mutation_p.R112K|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	112						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAACTCGTAGACAGACAGTG	0.438																																						ENST00000542554.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(334-336)aGa>aAa		proline rich Gla (G-carboxyglutamic acid) 1							158.0	130.0	139.0					X																	37312552		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312552G>A	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.335G>A	X.37:g.37312552G>A	ENSP00000444278:p.Arg112Lys					PRRG1_ENST00000378628.4_Missense_Mutation_p.R112K|PRRG1_ENST00000449135.2_Missense_Mutation_p.R112K|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Missense_Mutation_p.R112K	p.R112K	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	607	+			112					B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.335G>A	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466827	0.84425	.	.	ENSG00000130962	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135	D;D;D;D;D;D	0.99098	-5.26;-5.21;-5.26;-5.26;-5.42;-5.26	6.03	6.03	0.97812	.	0.044299	0.85682	D	0.000000	D	0.99007	0.9661	L	0.60455	1.87	0.43050	D	0.994658	D	0.58970	0.984	D	0.68192	0.956	D	0.99904	1.1173	10	0.46703	T	0.11	-17.4082	17.9386	0.89020	0.0:0.0:1.0:0.0	.	112	O14668	TMG1_HUMAN	K	112	ENSP00000367894:R112K;ENSP00000418384:R112K;ENSP00000444278:R112K;ENSP00000443271:R112K;ENSP00000420353:R112K;ENSP00000390332:R112K	ENSP00000367894:R112K	R	+	2	0	PRRG1	37197473	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.116000	0.71571	2.561000	0.86390	0.523000	0.50628	AGA		0.438	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		23	41	0	0	0	0.624587	0	23	41				
AQP4	361	broad.mit.edu	37	18	24445624	24445624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr18:24445624C>T	ENST00000383168.4	-	1	158	c.30G>A	c.(28-30)tgG>tgA	p.W10*	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_5'Flank|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4_ENST00000581374.1_5'Flank	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	10					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GGACTTACCCCCACCGCCTTG	0.522																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(28-30)tgG>tgA		aquaporin 4							121.0	123.0	122.0					18																	24445624		2203	4300	6503	SO:0001587	stop_gained	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24445624C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.30G>A	18.37:g.24445624C>T	ENSP00000372654:p.Trp10*					AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	p.W10*	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			1	158	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		10					P78564	Nonsense_Mutation	SNP	ENST00000383168.4	37	c.30G>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	37	6.522879	0.97633	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	.	.	.	4.8	4.8	0.61643	.	1.032150	0.07621	N	0.926977	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	15.0992	0.72258	0.0:0.8574:0.1426:0.0	.	.	.	.	X	10;10;17	.	ENSP00000372654:W10X	W	-	3	0	AQP4	22699622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.005000	0.49521	2.603000	0.88011	0.655000	0.94253	TGG		0.522	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		35	115	0	0	0	0.788014	0	35	115				
CDKN2A	1029	broad.mit.edu	37	9	21974753	21974753	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr9:21974753A>C	ENST00000304494.5	-	1	344	c.74T>G	c.(73-75)gTa>gGa	p.V25G	CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	25					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTCCTCTACCCGACCCCG	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1340	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(1)	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(73-75)gTa>gGa		cyclin-dependent kinase inhibitor 2A							19.0	24.0	22.0					9																	21974753		1918	3904	5822	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974753A>C	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.74T>G	9.37:g.21974753A>C	ENSP00000307101:p.Val25Gly	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V25G|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron	p.V25G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	344	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	25					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.74T>G	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972849	0.74246	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.91686	-2.89;-2.89	4.89	-9.23	0.00672	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.88284	0.6395	M	0.79258	2.445	0.09310	N	0.999991	P;P	0.43938	0.616;0.822	B;B	0.38225	0.215;0.268	T	0.81895	-0.0723	9	0.54805	T	0.06	.	9.0958	0.36638	0.6788:0.0:0.1437:0.1776	.	25;25	P42771;G3XAG3	CD2A1_HUMAN;.	G	25	ENSP00000307101:V25G;ENSP00000394932:V25G	ENSP00000307101:V25G	V	-	2	0	CDKN2A	21964753	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	-2.700000	0.00824	-2.114000	0.00832	-0.899000	0.02877	GTA		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		11	33	0	0	0	0.435327	0	11	33				
TIE1	7075	broad.mit.edu	37	1	43770796	43770796	+	Silent	SNP	G	G	A			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:43770796G>A	ENST00000372476.3	+	2	412	c.333G>A	c.(331-333)gcG>gcA	p.A111A	TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000538015.1_Silent_p.A111A|TIE1_ENST00000441333.2_Silent_p.A111A	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	111					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGCTGGGGCGCGGCGCACGC	0.697																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(331-333)gcG>gcA		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							26.0	29.0	28.0					1																	43770796		2200	4298	6498	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43770796G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.333G>A	1.37:g.43770796G>A						TIE1_ENST00000538015.1_Silent_p.A111A|TIE1_ENST00000441333.2_Silent_p.A111A	p.A111A	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			2	412	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	111					B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.333G>A	CCDS482.1																																																																																				0.697	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		8	24	0	0	0	0.278610	0	8	24				
ATG2A	23130	broad.mit.edu	37	11	64679415	64679415	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr11:64679415G>A	ENST00000377264.3	-	9	1239	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	ATG2A_ENST00000421419.2_Missense_Mutation_p.A376V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	376					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GAGGGCTGAGGCCACACTGCT	0.652																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1126-1128)gCc>gTc		autophagy related 2A							65.0	57.0	60.0					11																	64679415		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64679415G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1127C>T	11.37:g.64679415G>A	ENSP00000366475:p.Ala376Val					ATG2A_ENST00000377264.3_Missense_Mutation_p.A376V	p.A376V			Q2TAZ0	ATG2A_HUMAN			9	1241	-			376					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1127C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910546	0.52439	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	T;T	0.06768	3.26;3.26	4.42	2.5	0.30297	.	0.425461	0.23840	N	0.044041	T	0.07234	0.0183	L	0.36672	1.1	0.21627	N	0.999611	B	0.20261	0.043	B	0.24701	0.055	T	0.28964	-1.0027	10	0.44086	T	0.13	.	7.4749	0.27369	0.0953:0.1701:0.7346:0.0	.	376	Q2TAZ0	ATG2A_HUMAN	V	376	ENSP00000410522:A376V;ENSP00000366475:A376V	ENSP00000227459:A376V	A	-	2	0	ATG2A	64435991	1.000000	0.71417	0.222000	0.23844	0.883000	0.51084	5.261000	0.65496	0.602000	0.29896	0.561000	0.74099	GCC		0.652	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		7	24	0	0	0	0.248553	0	7	24				
MUC16	94025	broad.mit.edu	37	19	9090520	9090520	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr19:9090520G>T	ENST00000397910.4	-	1	1498	c.1295C>A	c.(1294-1296)aCt>aAt	p.T432N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	432	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTATTCAAAGTTCCTTCTGT	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1294-1296)aCt>aAt		mucin 16, cell surface associated							157.0	147.0	150.0					19																	9090520		1979	4170	6149	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090520G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1295C>A	19.37:g.9090520G>T	ENSP00000381008:p.Thr432Asn						p.T432N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1498	-			432			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1295C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.324	-0.598593	0.03744	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.38	-1.42	0.08913	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.19200	0.034	B	0.08055	0.003	T	0.41142	-0.9525	8	0.87932	D	0	.	5.5315	0.16987	0.0:0.0:0.425:0.575	.	432	B5ME49	.	N	432	ENSP00000381008:T432N	ENSP00000381008:T432N	T	-	2	0	MUC16	8951520	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-0.285000	0.08410	-0.295000	0.08960	-0.823000	0.03104	ACT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	67	1	0	3.51602e-12	0.575678	3.70107e-12	20	67				
C1orf141	400757	broad.mit.edu	37	1	67592860	67592860	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:67592860T>C	ENST00000371007.2	-	3	173	c.64A>G	c.(64-66)Aga>Gga	p.R22G	C1orf141_ENST00000544837.1_Missense_Mutation_p.R22G|C1orf141_ENST00000371006.1_Missense_Mutation_p.R22G	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	22										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTGTTCTTCTGGCCAAGATT	0.313																																						ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(64-66)Aga>Gga		chromosome 1 open reading frame 141							172.0	170.0	171.0					1																	67592860		2203	4299	6502	SO:0001583	missense	400757							g.chr1:67592860T>C	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.64A>G	1.37:g.67592860T>C	ENSP00000360046:p.Arg22Gly					C1orf141_ENST00000371006.1_Missense_Mutation_p.R22G|C1orf141_ENST00000544837.1_Missense_Mutation_p.R22G	p.R22G	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN			3	173	-			22					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.64A>G	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310116	0.40895	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000371004;ENST00000544837;ENST00000371005;ENST00000448166;ENST00000371003	T;T;T	0.29917	1.55;1.55;1.55	4.28	-4.83	0.03161	.	1.237340	0.06154	N	0.674748	T	0.05686	0.0149	N	0.14661	0.345	0.09310	N	1	P	0.41910	0.764	B	0.33960	0.173	T	0.28808	-1.0032	10	0.66056	D	0.02	3.3679	10.2492	0.43360	0.0:0.0855:0.6424:0.2721	.	22	Q5JVX7	CA141_HUMAN	G	22	ENSP00000360046:R22G;ENSP00000360045:R22G;ENSP00000444018:R22G	ENSP00000360042:R22G	R	-	1	2	C1orf141	67365448	0.003000	0.15002	0.000000	0.03702	0.030000	0.12068	0.024000	0.13555	-0.868000	0.04058	0.528000	0.53228	AGA		0.313	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		21	84	0	0	0	0.639603	0	21	84				
HIST1H2BF	8343	broad.mit.edu	37	6	26199951	26199951	+	Silent	SNP	C	C	T			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr6:26199951C>T	ENST00000359985.1	+	1	204	c.165C>T	c.(163-165)atC>atT	p.I55I	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	55					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ACACCGGCATCTCATCCAAGG	0.567																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(163-165)atC>atT		histone cluster 1, H2bf							223.0	206.0	212.0					6																	26199951		2203	4300	6503	SO:0001819	synonymous_variant	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199951C>T	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.165C>T	6.37:g.26199951C>T							p.I55I	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	204	+		all_hematologic(11;0.196)	55					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000359985.1	37	c.165C>T	CCDS4592.1																																																																																				0.567	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		57	225	0	0	0	0.870114	0	57	225				
ZNF185	7739	broad.mit.edu	37	X	152139069	152139069	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chrX:152139069A>T	ENST00000370268.4	+	22	2091	c.2054A>T	c.(2053-2055)tAt>tTt	p.Y685F	ZNF185_ENST00000318504.7_Missense_Mutation_p.Y626F|ZNF185_ENST00000370270.2_Missense_Mutation_p.Y717F|ZNF185_ENST00000449285.2_Missense_Mutation_p.Y686F|ZNF185_ENST00000535861.1_Missense_Mutation_p.Y717F|ZNF185_ENST00000318529.8_Missense_Mutation_p.Y464F|ZNF185_ENST00000324823.6_Missense_Mutation_p.Y453F|ZNF185_ENST00000539731.1_Missense_Mutation_p.Y688F|ZNF185_ENST00000454925.1_Missense_Mutation_p.Y323F			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	685	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAAATGCTATGAGAAGCTC	0.498																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(2149-2151)tAt>tTt		zinc finger protein 185 (LIM domain)							146.0	130.0	135.0					X																	152139069		2000	4164	6164	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152139069A>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.2054A>T	X.37:g.152139069A>T	ENSP00000359291:p.Tyr685Phe					ZNF185_ENST00000318504.7_Missense_Mutation_p.Y626F|ZNF185_ENST00000370268.4_Missense_Mutation_p.Y685F|ZNF185_ENST00000539731.1_Missense_Mutation_p.Y688F|ZNF185_ENST00000318529.8_Missense_Mutation_p.Y464F|ZNF185_ENST00000324823.6_Missense_Mutation_p.Y453F|ZNF185_ENST00000370270.1_Missense_Mutation_p.Y448F|ZNF185_ENST00000449285.2_Missense_Mutation_p.Y686F	p.Y717F	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			23	2198	+	Acute lymphoblastic leukemia(192;6.56e-05)		685					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.2150A>T	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.52|18.52	3.642898|3.642898	0.67244|0.67244	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000370268;ENST00000318529;ENST00000370270	.|D;D;D;D;D;D;D;D	.|0.85411	.|-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.25|5.25	4.06|4.06	0.47325|0.47325	.|Zinc finger, LIM-type (1);	.|0.000000	.|0.41500	.|D	.|0.000878	D|D	0.89491|0.89491	0.6730|0.6730	L|L	0.60845|0.60845	1.875|1.875	0.36539|0.36539	D|D	0.871171|0.871171	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.998;0.998;0.999;0.998;0.998;0.998;1.0	.|D;D;D;D;D;D;D;D;D	.|0.87578	.|0.997;0.998;0.982;0.994;0.995;0.994;0.994;0.971;0.998	D|D	0.90735|0.90735	0.4645|0.4645	5|10	.|0.87932	.|D	.|0	-13.3014|-13.3014	9.7206|9.7206	0.40300|0.40300	0.8275:0.1725:0.0:0.0|0.8275:0.1725:0.0:0.0	.|.	.|686;626;656;688;717;685;323;464;448	.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2	.|.;.;.;.;.;ZN185_HUMAN;.;.;.	L|F	326|717;688;686;626;520;453;685;464;448	.|ENSP00000440847:Y717F;ENSP00000444367:Y688F;ENSP00000395228:Y686F;ENSP00000312782:Y626F;ENSP00000325307:Y453F;ENSP00000359291:Y685F;ENSP00000313919:Y464F;ENSP00000359293:Y448F	.|ENSP00000312782:Y626F	M|Y	+|+	1|2	0|0	ZNF185|ZNF185	151889725|151889725	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.948000|0.948000	0.59901|0.59901	5.764000|5.764000	0.68826|0.68826	0.722000|0.722000	0.32252|0.32252	0.486000|0.486000	0.48141|0.48141	ATG|TAT		0.498	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		4	41	0	0	0	0.184627	0	4	41				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			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.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		12	248	0	0	0	0.457914	0	12	248				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		4	15	0	0	0	0.248553	0	4	15				
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						ENST00000300131.3																			1	Substitution - Missense(1)	p.F208L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(622-624)Ttc>Ctc		NGFI-A binding protein 2 (EGR1 binding protein 2)							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu					NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		7	24	0	0	0	0.457914	0	7	24				
IL17D	53342	broad.mit.edu	37	13	21296003	21296003	+	Silent	SNP	G	G	A			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr13:21296003G>A	ENST00000304920.3	+	3	627	c.519G>A	c.(517-519)ccG>ccA	p.P173P		NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D	173					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		TCCCCGAGCCGGAGAAGGACG	0.716																																						ENST00000304920.3																			0				endometrium(1)|skin(1)	2						c.(517-519)ccG>ccA		interleukin 17D							36.0	36.0	36.0					13																	21296003		2180	4246	6426	SO:0001819	synonymous_variant	53342				inflammatory response	extracellular space	cytokine activity	g.chr13:21296003G>A	AY078238	CCDS9292.1	13q11	2008-07-18			ENSG00000172458	ENSG00000172458		"""Interleukins and interleukin receptors"""	5984	protein-coding gene	gene with protein product	"""interleukin 27"""	607587				12097364	Standard	NM_138284		Approved	IL-22, IL-27, IL-17D, IL27, FLJ30846	uc001unm.3	Q8TAD2	OTTHUMG00000016521	ENST00000304920.3:c.519G>A	13.37:g.21296003G>A							p.P173P	NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)	3	627	+		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	173					B1AM69	Silent	SNP	ENST00000304920.3	37	c.519G>A	CCDS9292.1																																																																																				0.716	IL17D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044087.1	NM_138284		4	79	0	0	0	0.150653	0	4	79				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	73	0	0	0	0.184627	0	4	73				
USP48	84196	broad.mit.edu	37	1	22033083	22033083	+	Splice_Site	SNP	C	C	G			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:22033083C>G	ENST00000308271.9	-	17	2737		c.e17-1		USP48_ENST00000374732.3_Splice_Site|USP48_ENST00000400301.1_Splice_Site|USP48_ENST00000529637.1_Splice_Site	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTCTAAAATCTGAAAGAGAA	0.438																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e17-1		ubiquitin specific peptidase 48							97.0	96.0	96.0					1																	22033083		2203	4300	6503	SO:0001630	splice_region_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22033083C>G	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2089-1G>C	1.37:g.22033083C>G						USP48_ENST00000400301.1_Splice_Site|USP48_ENST00000374732.3_Splice_Site|USP48_ENST00000529637.1_Splice_Site		NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	17	2737	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)						B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Splice_Site	SNP	ENST00000308271.9	37		CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797842	0.70567	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	.	.	.	5.79	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3634	0.66789	0.0:0.9277:0.0:0.0723	.	.	.	.	.	-1	.	.	.	-	.	.	USP48	21905670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.091000	0.64505	2.745000	0.94114	0.557000	0.71058	.		0.438	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	Intron	31	76	0	0	0	0.760397	0	31	76				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	64	0	0	0	0.557998	0	18	64				
GOLGA2P5	55592	broad.mit.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100562920_100562921insT																													12.37:g.100562931_100562931dupT								NR_036632.1						0	599	-								Q9NSV2	RNA	INS	ENST00000397112.4	37																																																																																						0.406	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			2	4						2	4	---	---	---	---
CEACAM20	125931	broad.mit.edu	37	19	45017504	45017506	+	RNA	DEL	TTT	TTT	-	rs398034749|rs75216391		TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr19:45017504_45017506delTTT	ENST00000454753.1	-	0	1588							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ttggttttgcttttttttttttt	0.458																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20																																						125931					integral to membrane		g.chr19:45017504_45017506delTTT	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45017513_45017515delTTT										Q6UY09	CEA20_HUMAN			0	1588	-		Prostate(69;0.0352)							RNA	DEL	ENST00000454753.1	37																																																																																						0.458	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		2	4						2	4	---	---	---	---
