#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
MPP2	4355	broad.mit.edu	37	17	41958169	41958169	+	Missense_Mutation	SNP	G	G	A	rs143986614		TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr17:41958169G>A	ENST00000461854.1	-	11	1197	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L	MPP2_ENST00000520305.1_Missense_Mutation_p.P208L|MPP2_ENST00000518766.1_Missense_Mutation_p.P392L|MPP2_ENST00000269095.4_Missense_Mutation_p.P347L|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000523501.1_Missense_Mutation_p.P336L|MPP2_ENST00000377184.3_Missense_Mutation_p.P364L|MPP2_ENST00000536246.1_Missense_Mutation_p.P336L			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	371					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCGGCGGAACGGGGGCATGCG	0.612											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1	0.000199681	0.0008	0.0	5008	,	,		20147	0.0		0.0	False		,,,				2504	0.0					ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1039-1041)cCg>cTg		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							78.0	73.0	75.0					17																	41958169		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958169G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1112C>T	17.37:g.41958169G>A	ENSP00000428286:p.Pro371Leu		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000518766.1_Missense_Mutation_p.P392L|MPP2_ENST00000461854.1_Missense_Mutation_p.P371L|MPP2_ENST00000536246.1_Missense_Mutation_p.P336L|MPP2_ENST00000523501.1_Missense_Mutation_p.P336L|MPP2_ENST00000520305.1_Missense_Mutation_p.P208L|MPP2_ENST00000377184.3_Missense_Mutation_p.P364L	p.P347L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	10	1344	-		Breast(137;0.00314)	371					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1040C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	32	5.128724	0.94473	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.17	5.17	0.71159	.	.	.	.	.	T	0.48314	0.1493	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.973;0.991	T	0.55296	-0.8163	9	0.72032	D	0.01	.	16.5636	0.84573	0.0:0.0:1.0:0.0	.	392;364	E7EV80;Q14168-3	.;.	L	364;347;371;208;336;336;392	ENSP00000366389:P364L;ENSP00000269095:P347L;ENSP00000428286:P371L;ENSP00000428136:P208L;ENSP00000430540:P336L;ENSP00000438012:P336L;ENSP00000428182:P392L	ENSP00000269095:P347L	P	-	2	0	MPP2	39313695	1.000000	0.71417	0.966000	0.40874	0.928000	0.56348	9.716000	0.98752	2.592000	0.87571	0.485000	0.47835	CCG		0.612	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		4	53	0	0	0	1	0	4	53				
COPA	1314	broad.mit.edu	37	1	160261696	160261696	+	Silent	SNP	G	G	A			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTACTCACGGCAAATGGTGA	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(3169-3171)tgC>tgT		coatomer protein complex, subunit alpha							191.0	193.0	192.0					1																	160261696		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160261696G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3171C>T	1.37:g.160261696G>A			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Silent_p.C1066C	p.C1057C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		30	3400	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1057					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.3171C>T	CCDS1202.1																																																																																				0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		5	190	0	0	0	1	0	5	190				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	58	1	0	3.59834e-05	1	3.59834e-05	5	58				
ACSM3	6296	broad.mit.edu	37	16	20796355	20796355	+	Missense_Mutation	SNP	A	A	T			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr16:20796355A>T	ENST00000289416.5	+	8	1544	c.1069A>T	c.(1069-1071)Acc>Tcc	p.T357S	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.T349S|ACSM3_ENST00000440284.2_Missense_Mutation_p.T357S|ACSM3_ENST00000567387.1_3'UTR|RNU6-944P_ENST00000364023.1_RNA	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	357					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GGAACCAATTACCCCTGACGT	0.418																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(1069-1071)Acc>Tcc		acyl-CoA synthetase medium-chain family member 3							126.0	116.0	119.0					16																	20796355		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20796355A>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1069A>T	16.37:g.20796355A>T	ENSP00000289416:p.Thr357Ser					ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.T349S|ACSM3_ENST00000440284.2_Missense_Mutation_p.T357S	p.T357S	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			8	1544	+			357					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.1069A>T	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378591	0.42207	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.44083	0.93;0.93;0.93	5.34	5.34	0.76211	AMP-dependent synthetase/ligase (1);	0.105307	0.64402	N	0.000008	T	0.28001	0.0690	N	0.10972	0.075	0.80722	D	1	B;B;B	0.11235	0.003;0.001;0.004	B;B;B	0.15870	0.014;0.009;0.008	T	0.06752	-1.0809	10	0.54805	T	0.06	-3.1955	15.6035	0.76642	1.0:0.0:0.0:0.0	.	349;357;357	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	S	357;357;349	ENSP00000289416:T357S;ENSP00000394565:T357S;ENSP00000395297:T349S	ENSP00000289416:T357S	T	+	1	0	ACSM3	20703856	1.000000	0.71417	0.180000	0.23079	0.216000	0.24613	7.651000	0.83577	2.148000	0.66965	0.533000	0.62120	ACC		0.418	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		5	49	0	0	0	1	0	5	49				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	48	0	0	0	1	0	4	48				
DDX21	9188	broad.mit.edu	37	10	70733319	70733319	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr10:70733319C>T	ENST00000354185.4	+	10	1665	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	523	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTCCTACATTCATCGATCCGG	0.448																																						ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1567-1569)Cat>Tat		DEAD (Asp-Glu-Ala-Asp) box helicase 21							84.0	83.0	84.0					10																	70733319		2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70733319C>T	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1567C>T	10.37:g.70733319C>T	ENSP00000346120:p.His523Tyr						p.H523Y	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			10	1665	+			523			Helicase C-terminal.		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.1567C>T	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608639	0.87258	.	.	ENSG00000165732	ENST00000354185	T	0.80123	-1.34	5.07	5.07	0.68467	Helicase, C-terminal (3);	0.044707	0.85682	D	0.000000	D	0.93488	0.7922	H	0.98388	4.22	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.96069	0.9044	10	0.87932	D	0	-31.9356	18.83	0.92135	0.0:1.0:0.0:0.0	.	523	Q9NR30	DDX21_HUMAN	Y	523	ENSP00000346120:H523Y	ENSP00000346120:H523Y	H	+	1	0	DDX21	70403325	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.252000	0.78309	2.493000	0.84123	0.655000	0.94253	CAT		0.448	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		3	32	0	0	0	1	0	3	32				
FBN2	2201	broad.mit.edu	37	5	127641239	127641239	+	Missense_Mutation	SNP	C	C	T	rs546148828		TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr5:127641239C>T	ENST00000508053.1	-	50	6612	c.5638G>A	c.(5638-5640)Gcg>Acg	p.A1880T	FBN2_ENST00000262464.4_Missense_Mutation_p.A1880T			P35556	FBN2_HUMAN	fibrillin 2	1880	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGAAACCCGCGGCACATTCA	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		16849	0.001		0.0	False		,,,				2504	0.0					ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5638-5640)Gcg>Acg		fibrillin 2							82.0	82.0	82.0					5																	127641239		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127641239C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5638G>A	5.37:g.127641239C>T	ENSP00000424571:p.Ala1880Thr					FBN2_ENST00000262464.4_Missense_Mutation_p.A1880T	p.A1880T			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	50	6612	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1880			EGF-like 30; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5638G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	2.756	-0.259041	0.05791	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92199	-2.99;-2.99	5.25	2.55	0.30701	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.095329	0.46145	N	0.000314	D	0.85252	0.5654	L	0.37630	1.12	0.18873	N	0.999982	B	0.10296	0.003	B	0.08055	0.003	T	0.70382	-0.4887	10	0.24483	T	0.36	.	8.7396	0.34550	0.0:0.7166:0.0:0.2834	.	1880	P35556	FBN2_HUMAN	T	1880	ENSP00000262464:A1880T;ENSP00000424571:A1880T	ENSP00000262464:A1880T	A	-	1	0	FBN2	127669138	0.100000	0.21855	0.010000	0.14722	0.101000	0.19017	1.109000	0.31135	0.476000	0.27440	-0.469000	0.05056	GCG		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		4	46	0	0	0	1	0	4	46				
LHX9	56956	broad.mit.edu	37	1	197887022	197887022	+	Silent	SNP	C	C	T			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr1:197887022C>T	ENST00000367387.4	+	1	494	c.69C>T	c.(67-69)caC>caT	p.H23H	LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367391.1_Silent_p.H14H|LHX9_ENST00000561173.1_Silent_p.H29H|LHX9_ENST00000367390.3_Silent_p.H14H|LHX9_ENST00000337020.2_Silent_p.H23H	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	23					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGCTCTTTCACGGGATCTCCG	0.612																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(40-42)caC>caT		LIM homeobox 9							102.0	101.0	101.0					1																	197887022		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197887022C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.69C>T	1.37:g.197887022C>T						LHX9_ENST00000367387.4_Silent_p.H23H|LHX9_ENST00000337020.2_Silent_p.H23H|LHX9_ENST00000561173.1_Silent_p.H29H|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367391.1_Silent_p.H14H	p.H14H	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			2	69	+			23					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.42C>T	CCDS1393.1																																																																																				0.612	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		4	103	0	0	0	1	0	4	103				
C20orf96	140680	broad.mit.edu	37	20	257757	257757	+	Silent	SNP	G	G	C			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr20:257757G>C	ENST00000360321.2	-	8	891	c.753C>G	c.(751-753)cgC>cgG	p.R251R	C20orf96_ENST00000400269.3_Silent_p.R193R|C20orf96_ENST00000382369.5_Silent_p.R216R	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	251										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGACCTTTCTGCGCATCTCAC	0.557																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(751-753)cgC>cgG		chromosome 20 open reading frame 96							133.0	147.0	142.0					20																	257757		2203	4300	6503	SO:0001819	synonymous_variant	140680							g.chr20:257757G>C	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.753C>G	20.37:g.257757G>C						C20orf96_ENST00000400269.3_Silent_p.R193R|C20orf96_ENST00000382369.5_Silent_p.R216R	p.R251R	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		8	891	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	251					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	ENST00000360321.2	37	c.753C>G	CCDS12994.1																																																																																				0.557	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		7	158	0	0	0	1	0	7	158				
TATDN2	9797	broad.mit.edu	37	3	10311971	10311971	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr3:10311971A>G	ENST00000287652.4	+	4	2156	c.1105A>G	c.(1105-1107)Atg>Gtg	p.M369V	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.M369V	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	369					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CGACTATGTCATGTACCCTCC	0.542																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1105-1107)Atg>Gtg		TatD DNase domain containing 2							166.0	158.0	161.0					3																	10311971		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10311971A>G	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1105A>G	3.37:g.10311971A>G	ENSP00000287652:p.Met369Val					RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.M369V	p.M369V	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2156	+			369					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1105A>G	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356410	0.41700	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.38240	1.15;1.15	4.73	4.73	0.59995	.	0.000000	0.43919	D	0.000506	T	0.34193	0.0889	M	0.62723	1.935	0.34017	D	0.65223	P	0.35383	0.498	B	0.29598	0.104	T	0.56817	-0.7916	10	0.87932	D	0	-37.6096	12.5379	0.56152	1.0:0.0:0.0:0.0	.	369	Q93075	TATD2_HUMAN	V	369	ENSP00000287652:M369V;ENSP00000408736:M369V	ENSP00000287652:M369V	M	+	1	0	TATDN2	10286971	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.589000	0.67523	1.908000	0.55244	0.524000	0.50904	ATG		0.542	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		7	146	0	0	0	1	0	7	146				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	64	0	0	0	1	0	5	64				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	60	0	0	0	1	0	5	60				
KMT2C	58508	broad.mit.edu	37	7	151864310	151864310	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr7:151864310C>T	ENST00000262189.6	-	42	9889	c.9671G>A	c.(9670-9672)cGt>cAt	p.R3224H	KMT2C_ENST00000355193.2_Missense_Mutation_p.R3224H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3224	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGAAATTCACGCCCAGCTTT	0.408																																						ENST00000355193.2																			0											c.(9670-9672)cGt>cAt		lysine (K)-specific methyltransferase 2C							146.0	134.0	138.0					7																	151864310		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151864310C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9671G>A	7.37:g.151864310C>T	ENSP00000262189:p.Arg3224His					KMT2C_ENST00000262189.6_Missense_Mutation_p.R3224H	p.R3224H							42	9889	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.9671G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591795	0.86953	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.86230	-2.09;-2.09	5.83	5.83	0.93111	.	0.000000	0.46145	D	0.000307	D	0.89656	0.6778	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;0.977;1.0	D;D;D	0.91635	0.997;0.935;0.999	D	0.90965	0.4815	10	0.87932	D	0	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	3224;2285;3224	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	H	3224	ENSP00000262189:R3224H;ENSP00000347325:R3224H	ENSP00000262189:R3224H	R	-	2	0	MLL3	151495243	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	7.776000	0.85560	2.761000	0.94854	0.650000	0.86243	CGT		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	102	0	0	0	1	0	6	102				
ACE	1636	broad.mit.edu	37	17	61560877	61560877	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr17:61560877C>T	ENST00000290866.4	+	10	1568	c.1544C>T	c.(1543-1545)gCt>gTt	p.A515V	ACE_ENST00000490216.2_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000538928.1_Silent_p.L467L|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.A515V|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000290863.6_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	515	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CACTTTGATGCTGGAGCTAAG	0.493																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1543-1545)gCt>gTt		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						143.0	133.0	136.0					17																	61560877		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560877C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1544C>T	17.37:g.61560877C>T	ENSP00000290866:p.Ala515Val					ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.L467L|ACE_ENST00000428043.1_Missense_Mutation_p.A515V	p.A515V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			10	1568	+			515			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1544C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000899	0.93227	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.34275	1.37;1.37	4.9	4.9	0.64082	.	0.113064	0.64402	D	0.000010	T	0.58192	0.2105	M	0.89214	3.015	0.80722	D	1	D;D	0.63880	0.993;0.971	P;P	0.54856	0.734;0.762	T	0.67035	-0.5772	10	0.66056	D	0.02	-15.5939	13.6101	0.62074	0.0:0.9234:0.0:0.0766	.	515;515	P12821-2;P12821	.;ACE_HUMAN	V	515	ENSP00000290866:A515V;ENSP00000397593:A515V	ENSP00000290866:A515V	A	+	2	0	ACE	58914609	0.977000	0.34250	0.997000	0.53966	0.986000	0.74619	5.239000	0.65371	2.541000	0.85698	0.455000	0.32223	GCT		0.493	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			4	148	0	0	0	1	0	4	148				
SEMA4F	10505	broad.mit.edu	37	2	74881511	74881511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr2:74881511delC	ENST00000357877.2	+	1	157	c.8delC	c.(7-9)gccfs	p.A3fs	SEMA4F_ENST00000339773.5_Frame_Shift_Del_p.A3fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	3					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AAGATGCCGGCCTCTGCTGCG	0.761																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(7-9)gcfs		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							2.0	3.0	3.0					2																	74881511		1642	3400	5042	SO:0001589	frameshift_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74881511delC	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.8delC	2.37:g.74881511delC	ENSP00000350547:p.Ala3fs					SEMA4F_ENST00000339773.5_Frame_Shift_Del_p.A3fs	p.A3fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			1	157	+			3					Q542Y7|Q9NS35	Frame_Shift_Del	DEL	ENST00000357877.2	37	c.8delC	CCDS1955.1																																																																																				0.761	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		2	4						2	4	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102104601	102104601	+	5'Flank	DEL	T	T	-	rs373775876		TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr10:102104601delT	ENST00000370355.2	+	0	0				RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)						fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AAAATCACAAttttttttttt	0.403																																					Colon(67;260 1459 9574 11663)	ENST00000429420.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr10:102104601delT	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906		10.37:g.102104601delT	Exception_encountered													0	103	-								B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	RNA	DEL	ENST00000370355.2	37		CCDS7493.1																																																																																				0.403	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		3	3						3	3	---	---	---	---
RP11-114H23.1	0	broad.mit.edu	37	12	76082473	76082474	+	lincRNA	INS	-	-	T	rs34373540|rs71276352	byFrequency	TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr12:76082473_76082474insT	ENST00000552856.1	-	0	401				SNORA70_ENST00000516084.2_RNA																							ggtaattgaagttaaagcattc	0.312													TT|TT|TTT|insertion	91	0.0181709	0.0015	0.0245	5008	,	,		15725	0.0		0.0338	False		,,,				2504	0.0389					ENST00000552856.1																			0																																																			0							g.chr12:76082473_76082474insT																													12.37:g.76082475_76082475dupT														0	401	-									RNA	INS	ENST00000552856.1	37																																																																																						0.312	RP11-114H23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405775.2			3	5						3	5	---	---	---	---
RNFT2	84900	broad.mit.edu	37	12	117187692	117187692	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr12:117187692delG	ENST00000257575.4	+	4	363	c.130delG	c.(130-132)ggcfs	p.G44fs	RNFT2_ENST00000407967.3_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000319176.7_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000392549.2_Frame_Shift_Del_p.G44fs			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	44						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GGATGAAGGTGGCGTCTTTGA	0.617																																						ENST00000257575.4																			0				endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6						c.(130-132)gcfs		ring finger protein, transmembrane 2							15.0	20.0	19.0					12																	117187692		2129	4241	6370	SO:0001589	frameshift_variant	84900					integral to membrane	zinc ion binding	g.chr12:117187692delG	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.130delG	12.37:g.117187692delG	ENSP00000257575:p.Gly44fs					RNFT2_ENST00000407967.3_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000392549.2_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000319176.7_Frame_Shift_Del_p.G44fs	p.G44fs			Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	4	363	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		44					E9PAM7|Q96SU5	Frame_Shift_Del	DEL	ENST00000257575.4	37	c.130delG	CCDS44987.1																																																																																				0.617	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		2	4						2	4	---	---	---	---
KRT17P2	339241	broad.mit.edu	37	17	18334137	18334137	+	RNA	DEL	A	A	-	rs190442239|rs373000930	byFrequency	TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr17:18334137delA	ENST00000326333.8	+	0	1174				KRT16P1_ENST00000581027.1_RNA					keratin 17 pseudogene 2																		GCCTCTTGGCAGGGGTGGGGC	0.567																																						ENST00000580052.1																			0																																																			339244							g.chr17:18334137delA			17p11.2	2013-06-25			ENSG00000186831	ENSG00000186831			6429	pseudogene	pseudogene						1281771	Standard	NG_002778		Approved				OTTHUMG00000059248		17.37:g.18334137delA														0	43	+									RNA	DEL	ENST00000326333.8	37																																																																																						0.567	KRT17P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446573.1	NG_002778		3	5						3	5	---	---	---	---
