#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
ATAD3A	55210	broad.mit.edu	37	1	1455665	1455665	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr1:1455665A>G	ENST00000378755.5	+	6	897	c.803A>G	c.(802-804)cAg>cGg	p.Q268R	ATAD3A_ENST00000378756.3_Missense_Mutation_p.Q220R|ATAD3A_ENST00000536055.1_Missense_Mutation_p.Q141R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	268					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GAGCACCGTCAGACCGTCTTG	0.706																																						ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(802-804)cAg>cGg		ATPase family, AAA domain containing 3A							56.0	53.0	54.0					1																	1455665		2202	4300	6502	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1455665A>G	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.803A>G	1.37:g.1455665A>G	ENSP00000368030:p.Gln268Arg					ATAD3A_ENST00000378756.3_Missense_Mutation_p.Q220R|ATAD3A_ENST00000536055.1_Missense_Mutation_p.Q141R	p.Q268R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	6	897	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	268					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.803A>G	CCDS31.1	.	.	.	.	.	.	.	.	.	.	-	11.81	1.750240	0.30955	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055;ENST00000429957	T;T;D	0.94417	3.2;1.49;-3.42	4.28	4.28	0.50868	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	L	0.47716	1.5	0.53005	D	0.999963	P;B	0.43352	0.804;0.436	B;B	0.39299	0.296;0.222	D	0.90213	0.4266	10	0.37606	T	0.19	.	12.8702	0.57960	1.0:0.0:0.0:0.0	.	220;268	D2K8Q1;Q9NVI7	.;ATD3A_HUMAN	R	220;268;141;102	ENSP00000368031:Q220R;ENSP00000368030:Q268R;ENSP00000439290:Q141R	ENSP00000368030:Q268R	Q	+	2	0	ATAD3A	1445528	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	8.667000	0.91153	1.689000	0.51079	0.459000	0.35465	CAG		0.706	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		5	37	0	0	0	1	0	5	37				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	37	0	0	0	1	0	3	37				
SYVN1	84447	broad.mit.edu	37	11	64898172	64898172	+	Silent	SNP	A	A	G			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr11:64898172A>G	ENST00000377190.3	-	11	1159	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	SYVN1_ENST00000294256.8_Silent_p.P355P|SYVN1_ENST00000526060.1_Silent_p.P355P|SYVN1_ENST00000307289.6_Silent_p.P304P|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	355	Pro-rich.				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)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGTGGGGGGCAGGGGGTGGCC	0.672																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1063-1065)ccT>ccC		synovial apoptosis inhibitor 1, synoviolin							8.0	11.0	10.0					11																	64898172		1862	3812	5674	SO:0001819	synonymous_variant	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64898172A>G	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1065T>C	11.37:g.64898172A>G						SYVN1_ENST00000294256.8_Silent_p.P355P|SYVN1_ENST00000307289.6_Silent_p.P304P|SYVN1_ENST00000377190.3_Silent_p.P355P	p.P355P			Q86TM6	SYVN1_HUMAN			11	1257	-			355			Pro-rich.		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	c.1065T>C	CCDS31605.1																																																																																				0.672	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		3	18	0	0	0	1	0	3	18				
SLC25A45	283130	broad.mit.edu	37	11	65144052	65144052	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr11:65144052C>T	ENST00000527174.1	-	6	748	c.693G>A	c.(691-693)atG>atA	p.M231I	SLC25A45_ENST00000360662.3_Missense_Mutation_p.M207I|SLC25A45_ENST00000526432.1_Missense_Mutation_p.M169I|SLC25A45_ENST00000294187.6_Missense_Mutation_p.M189I|SLC25A45_ENST00000534028.1_Missense_Mutation_p.M207I|SLC25A45_ENST00000398802.1_Missense_Mutation_p.M231I|SLC25A45_ENST00000417511.2_Missense_Mutation_p.M189I|SLC25A45_ENST00000377152.2_Missense_Mutation_p.M127I|RP11-867O8.5_ENST00000533886.1_RNA			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	231					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TCAGTCCATCCATCTGCATCC	0.617																																						ENST00000417511.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(565-567)atG>atA		solute carrier family 25, member 45							98.0	103.0	102.0					11																	65144052		2163	4260	6423	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144052C>T	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.693G>A	11.37:g.65144052C>T	ENSP00000435489:p.Met231Ile					SLC25A45_ENST00000526432.1_Missense_Mutation_p.M169I|SLC25A45_ENST00000527174.1_Missense_Mutation_p.M231I|SLC25A45_ENST00000294187.6_Missense_Mutation_p.M189I|SLC25A45_ENST00000360662.3_Missense_Mutation_p.M207I|SLC25A45_ENST00000534028.1_Missense_Mutation_p.M207I|SLC25A45_ENST00000377152.2_Missense_Mutation_p.M127I|SLC25A45_ENST00000398802.1_Missense_Mutation_p.M231I	p.M189I	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN			10	1701	-			231					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.567G>A	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191043	0.78902	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.58	4.58	0.56647	Mitochondrial carrier domain (2);	.	.	.	.	T	0.78400	0.4277	N	0.16478	0.41	0.45690	D	0.998603	D;P;P	0.69078	0.997;0.767;0.885	D;P;P	0.79108	0.992;0.561;0.688	T	0.77101	-0.2712	9	0.31617	T	0.26	5.0032	15.256	0.73585	0.0:1.0:0.0:0.0	.	169;207;231	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	I	231;207;231;207;127;189;189;169	ENSP00000435489:M231I;ENSP00000431769:M207I;ENSP00000381782:M231I;ENSP00000353879:M207I;ENSP00000366357:M127I;ENSP00000294187:M189I;ENSP00000407530:M189I;ENSP00000435547:M169I	ENSP00000294187:M189I	M	-	3	0	SLC25A45	64900628	1.000000	0.71417	0.998000	0.56505	0.758000	0.43043	3.347000	0.52200	2.550000	0.86006	0.561000	0.74099	ATG		0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		33	67	0	0	0	1	0	33	67				
SUMO3	6612	broad.mit.edu	37	21	46233863	46233863	+	Missense_Mutation	SNP	G	G	C	rs13050872	byFrequency	TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr21:46233863G>C	ENST00000411651.2	-	2	290	c.178C>G	c.(178-180)Ctc>Gtc	p.L60V	SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000397898.3_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000332859.6_Intron					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		CACACGGGGAGGCTCTGCGGG	0.657													G|||	731	0.145966	0.0106	0.1239	5008	,	,		16129	0.1002		0.2992	False		,,,				2504	0.2342					ENST00000411651.2																			0				prostate(1)	1						c.(178-180)Ctc>Gtc		small ubiquitin-like modifier 3		G		257,4149	146.9+/-181.5	7,243,1953	76.0	62.0	67.0			-2.6	0.0	21	dbSNP_121	67	2713,5887	431.6+/-356.9	437,1839,2024	no	intron	SUMO3	NM_006936.2		444,2082,3977	CC,CG,GG		31.5465,5.833,22.8356			46233863	2970,10036	2203	4300	6503	SO:0001583	missense	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46233863G>C		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000411651.2:c.178C>G	21.37:g.46233863G>C	ENSP00000409666:p.Leu60Val					SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000397898.3_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000332859.6_Intron	p.L60V			P55854	SUMO3_HUMAN		Colorectal(79;0.058)	2	290	-			50			Ubiquitin-like.			Missense_Mutation	SNP	ENST00000411651.2	37	c.178C>G		361	0.1652930402930403	5	0.01016260162601626	53	0.1464088397790055	60	0.1048951048951049	243	0.32058047493403696	G	0.443	-0.897461	0.02472	0.05833	0.315465	ENSG00000184900	ENST00000411651	T	0.33216	1.42	1.29	-2.57	0.06248	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.40194	-0.9576	7	0.37606	T	0.19	.	1.8991	0.03264	0.1988:0.1798:0.4429:0.1785	rs13050872;rs17290193;rs13050872	60	B4DUW4	.	V	60	ENSP00000409666:L60V	ENSP00000409666:L60V	L	-	1	0	SUMO3	45058291	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.034000	0.12225	-2.112000	0.00835	-0.786000	0.03341	CTC		0.657	SUMO3-201	KNOWN	basic	protein_coding	protein_coding				4	70	0	0	0	1	0	4	70				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	82	0	0	0	1	0	5	82				
FXR2	9513	broad.mit.edu	37	17	7495766	7495766	+	Intron	SNP	G	G	A			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr17:7495766G>A	ENST00000250113.7	-	15	2160				FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|MPDU1_ENST00000423172.2_Silent_p.V179V	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2							cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCACAGGGGTGAGCATCCCAT	0.532																																						ENST00000423172.2																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(535-537)gtG>gtA		mannose-P-dolichol utilization defect 1																																				SO:0001627	intron_variant	9526				dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding	g.chr17:7495766G>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1825+55C>T	17.37:g.7495766G>A						FXR2_ENST00000250113.7_Intron	p.V179V			O75352	MPU1_HUMAN			6	547	+			0			PQ-loop 2.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.537G>A	CCDS45604.1																																																																																				0.532	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			15	108	0	0	0	1	0	15	108				
HERC2P2	400322	broad.mit.edu	37	15	23299984	23299984	+	RNA	SNP	G	G	A	rs429570		TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr15:23299984G>A	ENST00000560464.1	-	0	4303									hect domain and RLD 2 pseudogene 2																		TTCCTTCTGGGAAATCCCATC	0.582																																						ENST00000560464.1																			0																																																			0							g.chr15:23299984G>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299984G>A														0	4303	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.582	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	29	0	0	0	1	0	4	29				
ERMP1	79956	broad.mit.edu	37	9	5812998	5812998	+	Silent	SNP	T	T	C			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr9:5812998T>C	ENST00000339450.5	-	5	1001	c.912A>G	c.(910-912)tcA>tcG	p.S304S	ERMP1_ENST00000543230.1_5'Flank|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Silent_p.S80S	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	304						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTTTAGCTGCTGAAACATAAG	0.388																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(910-912)tcA>tcG		endoplasmic reticulum metallopeptidase 1							108.0	99.0	102.0					9																	5812998		2203	4300	6503	SO:0001819	synonymous_variant	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5812998T>C	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.912A>G	9.37:g.5812998T>C						ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Silent_p.S80S	p.S304S	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	5	1001	-		Acute lymphoblastic leukemia(23;0.158)	304					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	c.912A>G	CCDS34983.1																																																																																				0.388	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		37	51	0	0	0	1	0	37	51				
OR1N1	138883	broad.mit.edu	37	9	125288964	125288964	+	Silent	SNP	G	G	A			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr9:125288964G>A	ENST00000304880.2	-	1	608	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGATGAGTACGGTGCCTCCCA	0.507																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(607-609)acC>acT		olfactory receptor, family 1, subfamily N, member 1							85.0	76.0	79.0					9																	125288964		2203	4300	6503	SO:0001819	synonymous_variant	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125288964G>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.609C>T	9.37:g.125288964G>A							p.T203T	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	608	-			203					A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	ENST00000304880.2	37	c.609C>T	CCDS6844.1																																																																																				0.507	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			7	41	0	0	0	1	0	7	41				
RBM15B	29890	broad.mit.edu	37	3	51429678	51429678	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr3:51429678C>T	ENST00000323686.4	+	1	948	c.848C>T	c.(847-849)gCc>gTc	p.A283V		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	283					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		cgtcacgccgccgcagccttc	0.746																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(847-849)gCc>gTc		RNA binding motif protein 15B							8.0	9.0	9.0					3																	51429678		2124	4175	6299	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51429678C>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.848C>T	3.37:g.51429678C>T	ENSP00000313890:p.Ala283Val						p.A283V	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	948	+			283					A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.848C>T	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656182	0.47467	.	.	ENSG00000179837	ENST00000323686	T	0.16073	2.37	4.65	4.65	0.58169	.	.	.	.	.	T	0.14184	0.0343	N	0.20986	0.625	0.40999	D	0.984917	B	0.18461	0.028	B	0.13407	0.009	T	0.07083	-1.0791	9	0.36615	T	0.2	.	17.9111	0.88934	0.0:1.0:0.0:0.0	.	283	Q8NDT2	RB15B_HUMAN	V	283	ENSP00000313890:A283V	ENSP00000313890:A283V	A	+	2	0	RBM15B	51404718	0.841000	0.29509	0.782000	0.31804	0.672000	0.39443	3.404000	0.52623	2.302000	0.77476	0.561000	0.74099	GCC		0.746	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		4	12	0	0	0	1	0	4	12				
FXYD5	53827	broad.mit.edu	37	19	35657284	35657284	+	Intron	SNP	G	G	T	rs75807286	byFrequency	TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr19:35657284G>T	ENST00000342879.3	+	7	1265				FXYD5_ENST00000541435.2_Intron|FXYD5_ENST00000591716.2_Intron|FXYD5_ENST00000392219.2_Intron|FXYD5_ENST00000392217.3_Intron|FXYD5_ENST00000423817.3_Intron|FXYD5_ENST00000588699.1_Silent_p.T181T|FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000543307.1_Silent_p.T181T			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5						microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GACTTATGACGGAGGGCTGGG	0.483													T|||	172	0.034345	0.0015	0.0331	5008	,	,		19234	0.0734		0.0527	False		,,,				2504	0.0204					ENST00000543307.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(541-543)acG>acT		FXYD domain containing ion transport regulator 5		T	,,	20,1364		0,20,672	23.0	22.0	22.0		,,	-0.9	0.0	19	dbSNP_132	22	157,3025		9,139,1443	no	intron,intron,intron	FXYD5	NM_001164605.1,NM_014164.5,NM_144779.2	,,	9,159,2115	TT,TG,GG		4.934,1.4451,3.8765	,,	,,	35657284	177,4389	692	1591	2283	SO:0001627	intron_variant	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35657284G>T	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.487+56G>T	19.37:g.35657284G>T						FXYD5_ENST00000588699.1_Silent_p.T181T|FXYD5_ENST00000392217.3_Intron|FXYD5_ENST00000541435.2_Intron|FXYD5_ENST00000342879.3_Intron|FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000423817.3_Intron|FXYD5_ENST00000591716.2_Intron|FXYD5_ENST00000392219.2_Intron	p.T181T			Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		8	623	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		0					B7WNZ8|Q6UW44|Q9HC34|Q9P039	Silent	SNP	ENST00000342879.3	37	c.543G>T	CCDS12447.1																																																																																				0.483	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		5	75	1	0	0.000602214	1	0.000602214	5	75				
HUWE1	10075	broad.mit.edu	37	X	53652121	53652121	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chrX:53652121G>C	ENST00000342160.3	-	17	2045	c.1588C>G	c.(1588-1590)Cat>Gat	p.H530D	HUWE1_ENST00000262854.6_Missense_Mutation_p.H530D|HUWE1_ENST00000218328.8_Missense_Mutation_p.H530D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	530					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAATACCATGTCGTATGCCA	0.408																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1588-1590)Cat>Gat		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							124.0	118.0	120.0					X																	53652121		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53652121G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1588C>G	X.37:g.53652121G>C	ENSP00000340648:p.His530Asp					HUWE1_ENST00000218328.8_Missense_Mutation_p.H530D|HUWE1_ENST00000262854.6_Missense_Mutation_p.H530D	p.H530D			Q7Z6Z7	HUWE1_HUMAN			17	2045	-			530					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1588C>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.109351|4.109351	0.77096|0.77096	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000396323|ENST00000424562	T;T;T|.	0.39056|.	1.1;1.1;1.1|.	5.4|5.4	5.4|5.4	0.78164|0.78164	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-type fold (1);|.	0.135412|.	0.47852|.	D|.	0.000206|.	T|T	0.74435|0.74435	0.3716|0.3716	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.62740|.	0.906|.	T|T	0.74500|0.74500	-0.3645|-0.3645	10|5	0.36615|.	T|.	0.2|.	.|.	16.9078|16.9078	0.86132|0.86132	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	530|.	Q7Z6Z7|.	HUWE1_HUMAN|.	D|R	530;530;530;237|208	ENSP00000340648:H530D;ENSP00000262854:H530D;ENSP00000218328:H530D|.	ENSP00000218328:H530D|.	H|T	-|-	1|2	0|0	HUWE1|HUWE1	53668846|53668846	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.959000|0.959000	0.62525|0.62525	9.383000|9.383000	0.97214|0.97214	2.254000|2.254000	0.74563|0.74563	0.600000|0.600000	0.82982|0.82982	CAT|ACA		0.408	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	45	0	0	0	1	0	4	45				
OR2B2	81697	broad.mit.edu	37	6	27879286	27879286	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr6:27879286C>T	ENST00000303324.2	-	1	888	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AACCATCTTTCCCCGGTCTTT	0.443																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(811-813)gGa>gAa		olfactory receptor, family 2, subfamily B, member 2							83.0	79.0	80.0					6																	27879286		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879286C>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.812G>A	6.37:g.27879286C>T	ENSP00000304419:p.Gly271Glu						p.G271E	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	888	-			271					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.812G>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505405	0.26949	.	.	ENSG00000168131	ENST00000303324	T	0.00058	8.79	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	U	0.001569	T	0.00144	0.0004	L	0.46885	1.475	0.09310	N	1	D	0.56746	0.977	P	0.60541	0.876	T	0.19095	-1.0316	10	0.87932	D	0	.	9.0305	0.36256	0.0:0.8951:0.0:0.1049	.	271	Q9GZK3	OR2B2_HUMAN	E	271	ENSP00000304419:G271E	ENSP00000304419:G271E	G	-	2	0	OR2B2	27987265	0.000000	0.05858	0.990000	0.47175	0.255000	0.26057	-0.005000	0.12855	2.371000	0.80710	0.563000	0.77884	GGA		0.443	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			5	84	0	0	0	1	0	5	84				
ITGA10	8515	broad.mit.edu	37	1	145536012	145536012	+	Missense_Mutation	SNP	G	G	A	rs35515885	byFrequency	TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr1:145536012G>A	ENST00000369304.3	+	17	2279	c.2104G>A	c.(2104-2106)Gca>Aca	p.A702T	ITGA10_ENST00000539363.1_Missense_Mutation_p.A559T|ITGA10_ENST00000538811.1_Missense_Mutation_p.A571T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	702			A -> T (in dbSNP:rs35515885).		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.A702S(1)|p.A702T(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGTTCACCGCATCACTGGA	0.542													G|||	22	0.00439297	0.0076	0.0086	5008	,	,		22579	0.0		0.006	False		,,,				2504	0.0					ENST00000369304.3																			2	Substitution - Missense(2)	p.A702S(1)|p.A702T(1)	lung(1)|kidney(1)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2104-2106)Gca>Aca		integrin, alpha 10		G	THR/ALA	21,4385	27.2+/-55.0	0,21,2182	148.0	139.0	142.0		2104	5.3	1.0	1	dbSNP_126	142	49,8551	31.2+/-83.2	0,49,4251	yes	missense	ITGA10	NM_003637.3	58	0,70,6433	AA,AG,GG		0.5698,0.4766,0.5382	probably-damaging	702/1168	145536012	70,12936	2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145536012G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2104G>A	1.37:g.145536012G>A	ENSP00000358310:p.Ala702Thr					ITGA10_ENST00000538811.1_Missense_Mutation_p.A571T|ITGA10_ENST00000539363.1_Missense_Mutation_p.A559T	p.A702T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			17	2279	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		702		A -> T (in dbSNP:rs35515885).			B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2104G>A	CCDS918.1	10	0.004578754578754579	3	0.006097560975609756	4	0.011049723756906077	0	0.0	3	0.00395778364116095	G	18.28	3.588968	0.66105	0.004766	0.005698	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.50277	0.75;0.75;0.75	5.28	5.28	0.74379	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	L	0.49126	1.545	0.48185	D	0.9996	D;D;D;D	0.89917	0.999;0.968;1.0;0.999	D;P;D;D	0.78314	0.942;0.454;0.991;0.966	T	0.47509	-0.9112	10	0.40728	T	0.16	.	9.7673	0.40567	0.091:0.0:0.909:0.0	rs35515885	668;571;559;702	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	T	702;668;559;571	ENSP00000358310:A702T;ENSP00000439894:A559T;ENSP00000440011:A571T	ENSP00000358310:A702T	A	+	1	0	ITGA10	144247369	0.978000	0.34361	0.995000	0.50966	0.525000	0.34531	3.430000	0.52807	2.748000	0.94277	0.462000	0.41574	GCA		0.542	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		7	160	0	0	0	1	0	7	160				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	35	0	0	0	1	0	4	35				
MAML3	55534	broad.mit.edu	37	4	140811123	140811123	+	Silent	SNP	T	T	C	rs62344939		TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr4:140811123T>C	ENST00000509479.2	-	2	2323	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	MAML3_ENST00000327122.5_Silent_p.Q333Q|MAML3_ENST00000398940.1_Silent_p.Q28Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgttgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1465-1467)caA>caG		mastermind-like 3 (Drosophila)							17.0	20.0	19.0					4																	140811123		2193	4294	6487	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811123T>C	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1467A>G	4.37:g.140811123T>C						MAML3_ENST00000398940.1_Silent_p.Q28Q|MAML3_ENST00000327122.5_Silent_p.Q333Q	p.Q489Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2323	-	all_hematologic(180;0.162)		489			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1467A>G	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	54	0	0	0	1	0	4	54				
NADK	65220	broad.mit.edu	37	1	1688592	1688594	+	Intron	DEL	AGG	AGG	-			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr1:1688592_1688594delAGG	ENST00000341426.5	-	4	615				NADK_ENST00000342348.5_Intron|NADK_ENST00000344463.4_In_Frame_Del_p.244_245AW>G|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.244_245AW>G	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGTGCACCCCAGGCCCCCTTCCC	0.626																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(730-735)ggg>g		NAD kinase			,,,	28,3504		4,20,1742					,,,	2.2	0.0			5	129,6821		0,129,3346	no	intron,intron,coding,intron	NADK	NM_023018.4,NM_001198995.1,NM_001198994.1,NM_001198993.1	,,,	4,149,5088	A1A1,A1R,RR		1.8561,0.7928,1.4978	,,,	,,,		157,10325				SO:0001627	intron_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1688592_1688594delAGG	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.393+25CCT>-	1.37:g.1688592_1688594delAGG						NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.AW244del|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000342348.5_Intron	p.AW244del			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	6	952_954	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	131					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	In_Frame_Del	DEL	ENST00000341426.5	37	c.731_733delCCT	CCDS30565.1																																																																																				0.626	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		3	6						3	6	---	---	---	---
SYCE1	93426	broad.mit.edu	37	10	135373607	135373615	+	In_Frame_Del	DEL	TTTGCACCA	TTTGCACCA	-			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr10:135373607_135373615delTTTGCACCA	ENST00000343131.5	-	2	220_228	c.116_124delTGGTGCAAA	c.(115-126)atggtgcaaaag>aag	p.MVQ39del	SYCE1_ENST00000432597.2_In_Frame_Del_p.MVQ3del|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_In_Frame_Del_p.MVQ3del	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	39					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTCTGCAGCTTTTGCACCATTTCCATCAA	0.512																																						ENST00000368517.3																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(7-18)aag>a		synaptonemal complex central element protein 1																																				SO:0001651	inframe_deletion	93426				cell division	central element		g.chr10:135373607_135373615delTTTGCACCA	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.116_124delTGGTGCAAA	10.37:g.135373607_135373615delTTTGCACCA	ENSP00000341282:p.Met39_Gln41del					SYCE1_ENST00000432597.2_In_Frame_Del_p.MVQK3del|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_In_Frame_Del_p.MVQK39del	p.MVQK3del	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	2	146_154	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	39					B2RC80|Q9BWU3|Q9BWU4	In_Frame_Del	DEL	ENST00000343131.5	37	c.8_16delTGGTGCAAA	CCDS44501.1																																																																																				0.512	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		10	50						10	50	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA	rs202177940		TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086382_20086383insAAAA																													14.37:g.20086387_20086390dupAAAA														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			7	9						7	9	---	---	---	---
MIR381HG	378881	broad.mit.edu	37	14	101514904	101514905	+	lincRNA	DEL	GT	GT	-			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr14:101514904_101514905delGT	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA|MIR539_ENST00000365690.2_RNA|MIR655_ENST00000362159.2_RNA|MIR889_ENST00000401280.1_RNA|MIR487B_ENST00000385021.1_RNA|MIR381_ENST00000362150.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		CACCTCTGGGgtgtgtgtgtgt	0.47																																						ENST00000553692.1																			0																																																			0							g.chr14:101514904_101514905delGT	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101514914_101514915delGT														0	28	+									RNA	DEL	ENST00000553692.1	37																																																																																						0.470	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			2	4						2	4	---	---	---	---
RP11-152L20.3	0	broad.mit.edu	37	15	92829982	92829982	+	RNA	DEL	T	T	-	rs371725482		TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr15:92829982delT	ENST00000561674.1	-	0	185																											tgttgtggggtggggggaggg	0.473																																						ENST00000561674.1																			0																																																			0							g.chr15:92829982delT																													15.37:g.92829982delT														0	185	-									RNA	DEL	ENST00000561674.1	37																																																																																						0.473	RP11-152L20.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000435867.1			4	6						4	6	---	---	---	---
