#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
ZXDA	7789	broad.mit.edu	37	X	57935103	57935103	+	Silent	SNP	A	A	G	rs377183591		TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chrX:57935103A>G	ENST00000358697.4	-	1	1964	c.1752T>C	c.(1750-1752)ctT>ctC	p.L584L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	584	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGCTGGGTGTAAGAGAATTTG	0.458																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(1750-1752)ctT>ctC		zinc finger, X-linked, duplicated A		A		4,3810		0,0,4,1628,554	191.0	162.0	172.0		1752	1.6	0.9	X		172	2,6720		0,0,2,2426,1868	no	coding-synonymous	ZXDA	NM_007156.4		0,0,6,4054,2422	GG,GA,G,AA,A		0.0298,0.1049,0.0569		584/800	57935103	6,10530	2186	4296	6482	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935103A>G	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1752T>C	X.37:g.57935103A>G							p.L584L	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1964	-			584			Required for transcriptional activation.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.1752T>C	CCDS14376.1																																																																																				0.458	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		3	55	0	0	0	1	0	3	55				
CYP4F8	11283	broad.mit.edu	37	19	15739116	15739116	+	RNA	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr19:15739116G>A	ENST00000441682.2	+	0	1181							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTAGGGACGACCTGGCCCA	0.607																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							84.0	91.0	89.0					19																	15739116		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739116G>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739116G>A										P98187	CP4F8_HUMAN			0	1181	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	19.19	3.778874	0.70107	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.45	3.45	0.39498	.	0.063242	0.64402	U	0.000010	T	0.65729	0.2719	.	.	.	0.39201	D	0.963147	D;D	0.60160	0.973;0.987	P;P	0.54401	0.751;0.751	T	0.77958	-0.2392	7	0.66056	D	0.02	.	12.4524	0.55684	0.0:0.0:1.0:0.0	.	186;374	B4DU85;P98187	.;CP4F8_HUMAN	N	373;186;223	.	ENSP00000314398:D186N	D	+	1	0	CYP4F8	15600116	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.260000	0.89857	1.753000	0.51906	0.543000	0.68304	GAC		0.607	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		35	47	0	0	0	1	0	35	47				
EPAS1	2034	broad.mit.edu	37	2	46607403	46607403	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr2:46607403C>T	ENST00000263734.3	+	12	2102	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACACTGGCACCCTATATCCCC	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1591-1593)cCc>cTc		endothelial PAS domain protein 1							85.0	93.0	91.0					2																	46607403		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607403C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1592C>T	2.37:g.46607403C>T	ENSP00000263734:p.Pro531Leu						p.P531L	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2102	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	531			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1592C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063493	0.93898	.	.	ENSG00000116016	ENST00000263734	D	0.99511	-6.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	531	Q99814	EPAS1_HUMAN	L	531	ENSP00000263734:P531L	ENSP00000263734:P531L	P	+	2	0	EPAS1	46460907	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	CCC		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		51	44	0	0	0	1	0	51	44				
DNAJC7	7266	broad.mit.edu	37	17	40141571	40141571	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr17:40141571T>C	ENST00000457167.4	-	7	840	c.604A>G	c.(604-606)Att>Gtt	p.I202V	DNAJC7_ENST00000426588.3_Missense_Mutation_p.I146V|DNAJC7_ENST00000316603.7_Missense_Mutation_p.I146V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	202					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATTCGTAGAATGTCACTGCAA	0.428																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(604-606)Att>Gtt		DnaJ (Hsp40) homolog, subfamily C, member 7							167.0	160.0	163.0					17																	40141571		1983	4168	6151	SO:0001583	missense	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40141571T>C	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.604A>G	17.37:g.40141571T>C	ENSP00000406463:p.Ile202Val					DNAJC7_ENST00000316603.7_Missense_Mutation_p.I146V|DNAJC7_ENST00000426588.3_Missense_Mutation_p.I146V	p.I202V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN			7	840	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	202					Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	c.604A>G	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	T	9.482	1.098382	0.20552	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.74842	-0.67;-0.88;-0.88	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	N	0.25144	0.715	0.80722	D	1	B;B;B	0.15930	0.015;0.011;0.008	B;B;B	0.25614	0.062;0.028;0.028	T	0.55611	-0.8114	10	0.02654	T	1	-2.604	15.4721	0.75446	0.0:0.0:0.0:1.0	.	191;146;202	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	V	202;146;146	ENSP00000406463:I202V;ENSP00000394327:I146V;ENSP00000313311:I146V	ENSP00000313311:I146V	I	-	1	0	DNAJC7	37395097	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.698000	0.84413	2.071000	0.62044	0.379000	0.24179	ATT		0.428	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			24	75	0	0	0	1	0	24	75				
ADCY2	108	broad.mit.edu	37	5	7766829	7766829	+	Silent	SNP	C	C	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr5:7766829C>A	ENST00000338316.4	+	17	2213	c.2124C>A	c.(2122-2124)atC>atA	p.I708I	ADCY2_ENST00000537121.1_Silent_p.I528I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	708					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGGAAACAATCCCTCCAACTG	0.393																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2122-2124)atC>atA		adenylate cyclase 2 (brain)							118.0	115.0	116.0					5																	7766829		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7766829C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2124C>A	5.37:g.7766829C>A						ADCY2_ENST00000537121.1_Silent_p.I528I	p.I708I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			17	2213	+			708					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2124C>A	CCDS3872.2																																																																																				0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		37	35	1	0	1.90571e-15	1	2.06452e-15	37	35				
PRDM9	56979	broad.mit.edu	37	5	23527470	23527470	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr5:23527470G>A	ENST00000296682.3	+	11	2455	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	758					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R758H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGGGGCTTTCGCGATAAGTCA	0.572										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - Missense(1)	p.R758H(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2272-2274)cGc>cAc		PR domain containing 9							61.0	86.0	78.0					5																	23527470		2108	4293	6401	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527470G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2273G>A	5.37:g.23527470G>A	ENSP00000296682:p.Arg758His	HNSCC(3;0.000094)					p.R758H	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2455	+			758					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2273G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	8.538	0.872598	0.17322	.	.	ENSG00000164256	ENST00000296682	T	0.36520	1.25	2.65	-0.287	0.12858	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	L	0.38953	1.18	0.09310	N	1	P	0.39116	0.66	B	0.32022	0.139	T	0.08027	-1.0742	9	0.59425	D	0.04	.	13.6102	0.62074	0.0:0.7866:0.2133:0.0	.	758	Q9NQV7	PRDM9_HUMAN	H	758	ENSP00000296682:R758H	ENSP00000296682:R758H	R	+	2	0	PRDM9	23563227	0.000000	0.05858	0.027000	0.17364	0.011000	0.07611	-0.776000	0.04674	-0.153000	0.11137	0.484000	0.47621	CGC		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	84	0	0	0	1	0	5	84				
SRRM2	23524	broad.mit.edu	37	16	2815446	2815446	+	Silent	SNP	T	T	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr16:2815446T>A	ENST00000301740.8	+	11	5466	c.4917T>A	c.(4915-4917)ggT>ggA	p.G1639G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1639	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAGATCAGGTTCATCAAGCA	0.562																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4915-4917)ggT>ggA		serine/arginine repetitive matrix 2							67.0	67.0	67.0					16																	2815446		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815446T>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4917T>A	16.37:g.2815446T>A							p.G1639G	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	5466	+			1639			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.4917T>A	CCDS32373.1																																																																																				0.562	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			13	15	0	0	0	1	0	13	15				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	32	0	0	0	1	0	3	32				
GPR128	84873	broad.mit.edu	37	3	100373746	100373746	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr3:100373746C>G	ENST00000273352.3	+	12	1715	c.1447C>G	c.(1447-1449)Ctc>Gtc	p.L483V	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.L188V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	483					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GATTTTCAACCTCCTCTTTGT	0.323																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1447-1449)Ctc>Gtc		G protein-coupled receptor 128							106.0	101.0	103.0					3																	100373746		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373746C>G	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1447C>G	3.37:g.100373746C>G	ENSP00000273352:p.Leu483Val					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.L188V	p.L483V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			12	1715	+			483					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1447C>G	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807928	0.50421	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.41065	1.01;1.01	5.48	1.24	0.21308	GPCR, family 2-like (1);	0.398747	0.22258	N	0.062458	T	0.39036	0.1063	L	0.61218	1.895	0.28574	N	0.910462	B;P	0.49185	0.095;0.92	B;P	0.48089	0.2;0.566	T	0.37709	-0.9694	10	0.62326	D	0.03	.	1.3738	0.02216	0.222:0.4554:0.1379:0.1847	.	188;483	E9PHI0;Q96K78	.;GP128_HUMAN	V	483;188	ENSP00000273352:L483V;ENSP00000419788:L188V	ENSP00000273352:L483V	L	+	1	0	GPR128	101856436	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	1.583000	0.36579	0.666000	0.31087	-0.175000	0.13238	CTC		0.323	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			20	25	0	0	0	1	0	20	25				
MDC1	9656	broad.mit.edu	37	6	30672358	30672358	+	Silent	SNP	G	G	T			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr6:30672358G>T	ENST00000376406.3	-	10	5249	c.4602C>A	c.(4600-4602)gcC>gcA	p.A1534A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A1270A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1534	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGAGCTCAGGGGCTGCGGGCA	0.592								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(4600-4602)gcC>gcA	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							120.0	138.0	132.0					6																	30672358		2203	4300	6503	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672358G>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4602C>A	6.37:g.30672358G>T						MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A1270A	p.A1534A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	5249	-			1534			Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.4602C>A	CCDS34384.1																																																																																				0.592	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		27	138	1	0	6.32553e-13	1	6.57855e-13	27	138				
PSMC3	5702	broad.mit.edu	37	11	47444499	47444499	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr11:47444499A>T	ENST00000298852.3	-	7	774	c.617T>A	c.(616-618)aTg>aAg	p.M206K	PSMC3_ENST00000530912.1_Missense_Mutation_p.M164K|PSMC3_ENST00000602866.1_Missense_Mutation_p.M190K	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTGTGGTTCATTGGCAAGAC	0.597																																						ENST00000298852.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17						c.(616-618)aTg>aAg		proteasome (prosome, macropain) 26S subunit, ATPase, 3							102.0	102.0	102.0					11																	47444499		2201	4298	6499	SO:0001583	missense	5702				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47444499A>T	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.617T>A	11.37:g.47444499A>T	ENSP00000298852:p.Met206Lys					PSMC3_ENST00000602866.1_Missense_Mutation_p.M190K|PSMC3_ENST00000530912.1_Missense_Mutation_p.M164K	p.M206K	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	7	774	-			206					B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	c.617T>A	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598424	0.87055	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906	D;D	0.94613	-3.47;-3.47	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.91016	0.7174	N	0.16307	0.4	0.80722	D	1	P;P	0.49090	0.919;0.856	P;B	0.46543	0.52;0.424	D	0.92694	0.6169	10	0.87932	D	0	-47.1287	15.1702	0.72865	1.0:0.0:0.0:0.0	.	164;206	E9PM69;P17980	.;PRS6A_HUMAN	K	206;164;150;150;171;171;171	ENSP00000298852:M206K;ENSP00000433097:M164K	ENSP00000298852:M206K	M	-	2	0	PSMC3	47401075	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.339000	0.96797	1.981000	0.57761	0.533000	0.62120	ATG		0.597	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		4	90	0	0	0	1	0	4	90				
ATAD2	29028	broad.mit.edu	37	8	124382194	124382194	+	Silent	SNP	A	A	G	rs140021846		TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr8:124382194A>G	ENST00000287394.5	-	7	905	c.798T>C	c.(796-798)gaT>gaC	p.D266D	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	266	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cgtcatcatcatcatcatctt	0.368																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(796-798)gaT>gaC		ATPase family, AAA domain containing 2							225.0	174.0	191.0					8																	124382194		2203	4300	6503	SO:0001819	synonymous_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382194A>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.798T>C	8.37:g.124382194A>G						ATAD2_ENST00000521903.1_5'UTR	p.D266D	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	905	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		266			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	c.798T>C	CCDS6343.1																																																																																				0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		5	31	0	0	0	1	0	5	31				
AHDC1	27245	broad.mit.edu	37	1	27876195	27876195	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr1:27876195G>A	ENST00000247087.5	-	5	3028	c.2432C>T	c.(2431-2433)tCa>tTa	p.S811L	AHDC1_ENST00000374011.2_Missense_Mutation_p.S811L			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	811	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCACGGCCTGAGGCTCCACT	0.657																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2431-2433)tCa>tTa		AT hook, DNA binding motif, containing 1							40.0	45.0	44.0					1																	27876195		2188	4274	6462	SO:0001583	missense	27245						DNA binding	g.chr1:27876195G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2432C>T	1.37:g.27876195G>A	ENSP00000247087:p.Ser811Leu					AHDC1_ENST00000247087.5_Missense_Mutation_p.S811L|AHDC1_ENST00000482400.2_Intron	p.S811L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3400	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	811			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2432C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048610	0.36181	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.45668	0.89;0.89	5.88	5.88	0.94601	.	0.556823	0.15917	N	0.238281	T	0.33381	0.0861	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.19666	0.026	T	0.34850	-0.9812	10	0.72032	D	0.01	-3.4164	19.0137	0.92884	0.0:0.0:1.0:0.0	.	811	Q5TGY3	AHDC1_HUMAN	L	811	ENSP00000247087:S811L;ENSP00000363123:S811L	ENSP00000247087:S811L	S	-	2	0	AHDC1	27748782	0.894000	0.30519	0.750000	0.31169	0.919000	0.55068	4.694000	0.61760	2.782000	0.95742	0.655000	0.94253	TCA		0.657	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			27	23	0	0	0	1	0	27	23				
LOC101927209	101927209	broad.mit.edu	37	1	142713407	142713407	+	lincRNA	SNP	C	C	T	rs200984414		TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr1:142713407C>T	ENST00000610091.1	-	0	2251																											CAGTAAGAAACTCATTCTTAT	0.318																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713407C>T																													1.37:g.142713407C>T														0	1198	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.318	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	33	0	0	0	1	0	6	33				
CHRNA9	55584	broad.mit.edu	37	4	40356467	40356467	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr4:40356467G>A	ENST00000310169.2	+	5	1509	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	457					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	GTCATAGACCGATTCTTCATG	0.433																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(1369-1371)cGa>cAa		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						182.0	162.0	169.0					4																	40356467		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40356467G>A	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.1370G>A	4.37:g.40356467G>A	ENSP00000312663:p.Arg457Gln						p.R457Q	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			5	1509	+			457					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.1370G>A	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437160	0.96168	.	.	ENSG00000174343	ENST00000310169	D	0.88818	-2.43	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.047328	0.85682	D	0.000000	D	0.96178	0.8754	H	0.97103	3.94	0.80722	D	1	D	0.67145	0.996	P	0.60173	0.87	D	0.97509	1.0065	10	0.87932	D	0	.	19.0761	0.93163	0.0:0.0:1.0:0.0	.	457	Q9UGM1	ACHA9_HUMAN	Q	457	ENSP00000312663:R457Q	ENSP00000312663:R457Q	R	+	2	0	CHRNA9	40051224	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.476000	0.97823	2.527000	0.85204	0.455000	0.32223	CGA		0.433	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			22	72	0	0	0	1	0	22	72				
IL4R	3566	broad.mit.edu	37	16	27357864	27357864	+	Silent	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr16:27357864G>A	ENST00000395762.2	+	6	697	c.438G>A	c.(436-438)ccG>ccA	p.P146P	IL4R_ENST00000380922.3_Silent_p.P131P|IL4R_ENST00000449195.1_Silent_p.P146P|IL4R_ENST00000543915.2_Silent_p.P146P|IL4R_ENST00000170630.2_Silent_p.P146P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	146	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGAGCAACCCGTATCCCCCTG	0.522																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(436-438)ccG>ccA		interleukin 4 receptor							113.0	103.0	106.0					16																	27357864		2197	4300	6497	SO:0001819	synonymous_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27357864G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.438G>A	16.37:g.27357864G>A						IL4R_ENST00000449195.1_Silent_p.P146P|IL4R_ENST00000543915.2_Silent_p.P146P|IL4R_ENST00000170630.2_Silent_p.P146P|IL4R_ENST00000380922.3_Silent_p.P131P	p.P146P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			6	697	+			146			Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.438G>A	CCDS10629.1																																																																																				0.522	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			3	51	0	0	0	1	0	3	51				
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C	rs538666859		TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr19:12187394T>C	ENST00000439326.3	+	4	1634	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F487L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448													.|||	1	0.000199681	0.0	0.0	5008	,	,		23892	0.0		0.001	False		,,,				2504	0.0					ENST00000439326.3																			1	Substitution - Missense(1)	p.F487L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1459-1461)Ttt>Ctt		zinc finger protein 844							88.0	76.0	80.0					19																	12187394		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187394T>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1459T>C	19.37:g.12187394T>C	ENSP00000392024:p.Phe487Leu					ZNF844_ENST00000441304.2_3'UTR	p.F487L	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1634	+			487					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1459T>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.727179	0.00091	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.04862	3.54	2.75	-5.5	0.02576	.	.	.	.	.	T	0.01454	0.0047	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	9	0.11485	T	0.65	.	1.7468	0.02963	0.1644:0.3872:0.2107:0.2378	.	487	Q08AG5	ZN844_HUMAN	L	487	ENSP00000392024:F487L	ENSP00000392024:F487L	F	+	1	0	ZNF844	12048394	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.436000	0.00000	-6.151000	0.00006	-3.187000	0.00055	TTT		0.448	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	48	0	0	0	1	0	3	48				
CHEK2P2	646096	broad.mit.edu	37	15	20496630	20496630	+	RNA	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr15:20496630G>A	ENST00000555186.1	+	0	683					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TCATGAAGGGGAAGCCGAGGG	0.438																																						ENST00000555186.1																			0																																																			646096							g.chr15:20496630G>A			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496630G>A								NR_038836.1						0	683	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.438	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		7	70	0	0	0	1	0	7	70				
OSBPL6	114880	broad.mit.edu	37	2	179196280	179196280	+	Splice_Site	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr2:179196280G>A	ENST00000190611.4	+	6	696	c.320G>A	c.(319-321)cGt>cAt	p.R107H	OSBPL6_ENST00000409631.1_Splice_Site_p.R107H|OSBPL6_ENST00000392505.2_Splice_Site_p.R107H|OSBPL6_ENST00000359685.3_Splice_Site_p.R107H|OSBPL6_ENST00000409045.3_Splice_Site_p.R107H|OSBPL6_ENST00000357080.4_Splice_Site_p.R107H|OSBPL6_ENST00000315022.2_Splice_Site_p.R86H|OSBPL6_ENST00000477097.1_3'UTR	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	107	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTTGCAGCGTTTTTTTGTC	0.363																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.e6-1		oxysterol binding protein-like 6							234.0	234.0	234.0					2																	179196280		2203	4300	6503	SO:0001630	splice_region_variant	114880				lipid transport		lipid binding	g.chr2:179196280G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.319-1G>A	2.37:g.179196280G>A						OSBPL6_ENST00000409631.1_Splice_Site_p.R107_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.R107_splice|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000392505.2_Splice_Site_p.R107_splice|OSBPL6_ENST00000359685.3_Splice_Site_p.R107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.R107_splice|OSBPL6_ENST00000315022.2_Splice_Site_p.R86_splice	p.R107_splice	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		6	696	+			107			PH.		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Splice_Site	SNP	ENST00000190611.4	37	c.318_splice	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507353	0.96386	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.43688	0.94;1.01;1.29;0.98;0.94;1.01;1.0	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	H	0.96489	3.83	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.998;0.994;0.998;0.991;0.996	D	0.84732	0.0746	10	0.87932	D	0	-9.5614	19.5679	0.95403	0.0:0.0:1.0:0.0	.	107;86;107;107;107;107	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	H	107;107;107;107;107;107;86	ENSP00000376293:R107H;ENSP00000352713:R107H;ENSP00000349591:R107H;ENSP00000387248:R107H;ENSP00000190611:R107H;ENSP00000386885:R107H;ENSP00000318723:R86H	ENSP00000190611:R107H	R	+	2	0	OSBPL6	178904526	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.781000	0.99029	2.611000	0.88343	0.655000	0.94253	CGT		0.363	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	Missense_Mutation	4	108	0	0	0	1	0	4	108				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	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.S168S(5)		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)		tgctgctgctgctactgctgc	0.537			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		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(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.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>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.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	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	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	68	0	0	0	1	0	4	68				
SLC38A6	145389	broad.mit.edu	37	14	61486268	61486268	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr14:61486268G>A	ENST00000267488.4	+	5	489	c.373G>A	c.(373-375)Gca>Aca	p.A125T	SLC38A6_ENST00000456840.2_Missense_Mutation_p.A102T|SLC38A6_ENST00000354886.2_Missense_Mutation_p.A125T	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	125					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTTGGTGGTGGCAGGCACCAT	0.308																																						ENST00000354886.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21						c.(373-375)Gca>Aca		solute carrier family 38, member 6							139.0	136.0	137.0					14																	61486268		2203	4300	6503	SO:0001583	missense	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61486268G>A	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.373G>A	14.37:g.61486268G>A	ENSP00000267488:p.Ala125Thr					SLC38A6_ENST00000456840.2_Missense_Mutation_p.A102T|SLC38A6_ENST00000267488.4_Missense_Mutation_p.A125T	p.A125T	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	5	537	+			125					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.373G>A	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933151	0.73442	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000526105	T;T;T;T;T	0.02498	4.27;4.27;4.27;4.27;4.27	5.87	5.87	0.94306	.	0.050714	0.85682	D	0.000000	T	0.17746	0.0426	M	0.79693	2.465	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75484	0.986;0.977;0.979	T	0.00026	-1.2314	10	0.51188	T	0.08	-2.5112	19.2108	0.93753	0.0:0.0:1.0:0.0	.	102;125;125	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	T	125;125;120;102;71	ENSP00000346959:A125T;ENSP00000267488:A125T;ENSP00000395851:A120T;ENSP00000413863:A102T;ENSP00000451244:A71T	ENSP00000267488:A125T	A	+	1	0	SLC38A6	60556021	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	6.161000	0.71868	2.778000	0.95560	0.650000	0.86243	GCA		0.308	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			5	71	0	0	0	1	0	5	71				
SAMD11	148398	broad.mit.edu	37	1	865539	865539	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr1:865539delG	ENST00000342066.3	+	3	160	c.77delG	c.(76-78)cggfs	p.R26fs	AL645608.1_ENST00000598827.1_Intron	NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	26					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;8.75e-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)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		caccAGAACCGGGGGCGGCTG	0.672																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(76-78)cgfs		sterile alpha motif domain containing 11							6.0	6.0	6.0					1																	865539		2116	4161	6277	SO:0001589	frameshift_variant	148398					nucleus		g.chr1:865539delG	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.77delG	1.37:g.865539delG	ENSP00000342313:p.Arg26fs					AL645608.1_ENST00000598827.1_Intron	p.R26fs	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	3	160	+	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;8.75e-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)|Lung SC(97;0.128)	26					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Frame_Shift_Del	DEL	ENST00000342066.3	37	c.77delG	CCDS2.2																																																																																				0.672	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		2	4						2	4	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-	rs367732188		TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)		p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572																																						ENST00000423186.1																			2	Deletion - Frameshift(2)	p.E82fs*32(2)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5												96,356		38,20,168							0.0			1	208,1036		88,32,502	no	frameshift	STAG3L2	NM_001025202.2		126,52,670	A1A1,A1R,RR		16.7203,21.2389,17.9245				304,1392						442582					nucleus	binding	g.chr7:74300557_74300564delAGAGCTCC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300557_74300564delAGAGCTCC										P0CL84	ST3L2_HUMAN			0	573_580	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.572	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		4	4						4	4	---	---	---	---
