#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
OTOGL	283310	broad.mit.edu	37	12	80647295	80647295	+	Silent	SNP	C	C	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr12:80647295C>T	ENST00000547103.1	+	13	1314	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	OTOGL_ENST00000458043.2_Silent_p.C436C			Q3ZCN5	OTOGL_HUMAN	otogelin-like	436					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTGCCCATGCGGTTTTCATG	0.363																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1306-1308)tgC>tgT		otogelin-like							152.0	148.0	149.0					12																	80647295		1845	4100	5945	SO:0001819	synonymous_variant	283310							g.chr12:80647295C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1308C>T	12.37:g.80647295C>T						OTOGL_ENST00000547103.1_Silent_p.C436C	p.C436C	NM_173591.3	NP_775862.3					13	1314	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.1308C>T																																																																																					0.363	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		10	31	0	0	0	1	0	10	31				
LOC653786	653786	broad.mit.edu	37	16	22558314	22558314	+	RNA	SNP	G	G	A	rs201336667		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr16:22558314G>A	ENST00000550753.1	+	0	1296					NR_003676.2																						CTGAGACCACGAAGGACTTGG	0.443																																						ENST00000550753.1																			0																																																			0							g.chr16:22558314G>A																													16.37:g.22558314G>A								NR_003676.2						0	1296	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.443	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			4	39	0	0	0	1	0	4	39				
ZNF155	7711	broad.mit.edu	37	19	44495748	44495748	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:44495748C>G	ENST00000270014.2	+	3	192	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V|ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TGAGGAGGAGCTGGGGCTGCT	0.532																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(64-66)Ctg>Gtg		zinc finger protein 155							239.0	221.0	227.0					19																	44495748		2203	4297	6500	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44495748C>G	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.64C>G	19.37:g.44495748C>G	ENSP00000270014:p.Leu22Val					ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V|ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V	p.L22V	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN			3	192	+		Prostate(69;0.0352)	22			KRAB.		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.64C>G	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	c	13.84	2.356298	0.41700	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.01787	4.64;4.64	1.64	1.64	0.23874	Krueppel-associated box (4);	.	.	.	.	T	0.06508	0.0167	M	0.68317	2.08	0.23546	N	0.997442	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.996	T	0.30475	-0.9977	9	0.87932	D	0	.	3.5586	0.07873	0.0:0.6202:0.0:0.3798	.	33;22	B4DM95;Q12901	.;ZN155_HUMAN	V	33;22	ENSP00000385163:L33V;ENSP00000270014:L22V	ENSP00000270014:L22V	L	+	1	2	ZNF155	49187588	0.980000	0.34600	1.000000	0.80357	0.940000	0.58332	-0.002000	0.12924	1.202000	0.43218	0.462000	0.41574	CTG		0.532	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		5	178	0	0	0	1	0	5	178				
HTR1E	3354	broad.mit.edu	37	6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	rs200719637		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr6:87725488G>A	ENST00000305344.5	+	2	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	146					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V146I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCCTTACCGTCTGGACCAT	0.582																																						ENST00000305344.4																			2	Substitution - Missense(2)	p.V146I(2)	large_intestine(1)|endometrium(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(436-438)Gtc>Atc		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						108.0	94.0	99.0					6																	87725488		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725488G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.436G>A	6.37:g.87725488G>A	ENSP00000307766:p.Val146Ile					HTR1E_ENST00000369584.1_Missense_Mutation_p.V146I	p.V146I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1139	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	146					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.436G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640966	0.67244	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.73152	-0.72;-0.72	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000069	T	0.78477	0.4289	M	0.69358	2.11	0.44834	D	0.997845	D	0.76494	0.999	D	0.68483	0.958	T	0.82133	-0.0608	10	0.72032	D	0.01	.	16.6564	0.85229	0.0:0.0:1.0:0.0	.	146	P28566	5HT1E_HUMAN	I	146	ENSP00000307766:V146I;ENSP00000358597:V146I	ENSP00000307766:V146I	V	+	1	0	HTR1E	87782207	1.000000	0.71417	0.986000	0.45419	0.941000	0.58515	7.241000	0.78201	1.929000	0.55896	0.404000	0.27445	GTC		0.582	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		11	26	0	0	0	1	0	11	26				
PLOD3	8985	broad.mit.edu	37	7	100859736	100859736	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr7:100859736T>C	ENST00000223127.3	-	3	691	c.293A>G	c.(292-294)gAg>gGg	p.E98G	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	98					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCGTATTTCTCCATTTCCTT	0.567																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(292-294)gAg>gGg		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						205.0	187.0	193.0					7																	100859736		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100859736T>C	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.293A>G	7.37:g.100859736T>C	ENSP00000223127:p.Glu98Gly						p.E98G	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			3	691	-	Lung NSC(181;0.168)|all_lung(186;0.215)		98					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.293A>G	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075800	0.55646	.	.	ENSG00000106397	ENST00000223127;ENST00000541462;ENST00000414785	T;T	0.26067	1.76;1.76	5.17	3.99	0.46301	.	0.550372	0.18532	N	0.138446	T	0.25344	0.0616	L	0.58428	1.81	0.42137	D	0.991499	B	0.14012	0.009	B	0.15484	0.013	T	0.05419	-1.0886	10	0.66056	D	0.02	-22.6964	8.172	0.31260	0.1785:0.0:0.0:0.8215	.	98	O60568	PLOD3_HUMAN	G	98;2;102	ENSP00000223127:E98G;ENSP00000407551:E102G	ENSP00000223127:E98G	E	-	2	0	PLOD3	100646456	0.999000	0.42202	0.991000	0.47740	0.401000	0.30781	1.511000	0.35801	0.791000	0.33826	0.402000	0.26972	GAG		0.567	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			11	38	0	0	0	1	0	11	38				
SF3B1	23451	broad.mit.edu	37	2	198266711	198266711	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:198266711T>C	ENST00000335508.6	-	15	2312	c.2221A>G	c.(2221-2223)Aag>Gag	p.K741E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGATTTACCTTTCCTCTGTGT	0.353			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2221-2223)Aag>Gag		splicing factor 3b, subunit 1, 155kDa							89.0	84.0	86.0					2																	198266711		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266711T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2221A>G	2.37:g.198266711T>C	ENSP00000335321:p.Lys741Glu						p.K741E	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	2312	-			741					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2221A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949313	0.92660	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.90249	0.4292	10	0.87932	D	0	.	15.9781	0.80086	0.0:0.0:0.0:1.0	.	741	O75533	SF3B1_HUMAN	E	741	ENSP00000335321:K741E	ENSP00000335321:K741E	K	-	1	0	SF3B1	197974956	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.566000	0.82347	2.171000	0.68590	0.533000	0.62120	AAG		0.353	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			21	48	0	0	0	1	0	21	48				
NUP85	79902	broad.mit.edu	37	17	73228981	73228981	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:73228981G>A	ENST00000245544.4	+	15	1503	c.1432G>A	c.(1432-1434)Gtc>Atc	p.V478I	NUP85_ENST00000579324.1_Missense_Mutation_p.V366I|NUP85_ENST00000447371.2_Missense_Mutation_p.V310I|NUP85_ENST00000579298.1_Missense_Mutation_p.V433I|NUP85_ENST00000541827.1_Missense_Mutation_p.V432I|NUP85_ENST00000540768.1_Missense_Mutation_p.V81I	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	478					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CATGAAAGCCGTCCGCAACAA	0.532																																						ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(928-930)Gtc>Atc		nucleoporin 85kDa							151.0	152.0	152.0					17																	73228981		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73228981G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1432G>A	17.37:g.73228981G>A	ENSP00000245544:p.Val478Ile					NUP85_ENST00000579324.1_Missense_Mutation_p.V366I|NUP85_ENST00000579298.1_Missense_Mutation_p.V433I|NUP85_ENST00000541827.1_Missense_Mutation_p.V432I|NUP85_ENST00000245544.4_Missense_Mutation_p.V478I|NUP85_ENST00000540768.1_Missense_Mutation_p.V81I	p.V310I			Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		14	1352	+	all_lung(278;0.14)|Lung NSC(278;0.168)		478					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.928G>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072446	0.36566	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.49	2.37	0.29283	.	0.185777	0.47093	N	0.000241	T	0.24890	0.0604	N	0.16368	0.405	0.34606	D	0.717032	B;B	0.33318	0.115;0.408	B;B	0.27500	0.021;0.08	T	0.26608	-1.0098	9	0.21540	T	0.41	-14.9664	8.3218	0.32134	0.1427:0.3615:0.4958:0.0	.	432;478	B4DMQ3;Q9BW27	.;NUP85_HUMAN	I	478;432;310;81	.	ENSP00000245544:V478I	V	+	1	0	NUP85	70740576	0.754000	0.28360	0.922000	0.36590	0.987000	0.75469	1.109000	0.31135	0.270000	0.21984	0.655000	0.94253	GTC		0.532	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		4	159	0	0	0	1	0	4	159				
TELO2	9894	broad.mit.edu	37	16	1556991	1556991	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr16:1556991T>C	ENST00000262319.6	+	18	2444	c.2165T>C	c.(2164-2166)cTg>cCg	p.L722P		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	722					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GAAGACCAGCTGGTTCTCGGA	0.652																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(2164-2166)cTg>cCg		telomere maintenance 2							64.0	49.0	54.0					16																	1556991		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1556991T>C	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2165T>C	16.37:g.1556991T>C	ENSP00000262319:p.Leu722Pro						p.L722P	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			18	2444	+		Hepatocellular(780;0.219)	722					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.2165T>C	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544503	0.65198	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.17370	2.28	4.62	4.62	0.57501	.	0.067015	0.56097	D	0.000027	T	0.38983	0.1061	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.12967	-1.0527	10	0.39692	T	0.17	-17.7371	13.132	0.59389	0.0:0.0:0.0:1.0	.	722	Q9Y4R8	TELO2_HUMAN	P	245;722	ENSP00000262319:L722P	ENSP00000262319:L722P	L	+	2	0	TELO2	1496992	1.000000	0.71417	0.976000	0.42696	0.709000	0.40893	4.795000	0.62489	1.962000	0.57031	0.379000	0.24179	CTG		0.652	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		4	9	0	0	0	1	0	4	9				
HOOK2	29911	broad.mit.edu	37	19	12875684	12875684	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:12875684C>T	ENST00000397668.3	-	20	1844	c.1771G>A	c.(1771-1773)Gcg>Acg	p.A591T	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Missense_Mutation_p.A589T	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	591	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGCAAGTCCGCGTCCTTCTTC	0.647											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1765-1767)Gcg>Acg		hook microtubule-tethering protein 2							81.0	85.0	84.0					19																	12875684		2044	4183	6227	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12875684C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1771G>A	19.37:g.12875684C>T	ENSP00000380785:p.Ala591Thr		OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_ENST00000397668.3_Missense_Mutation_p.A591T	p.A589T	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			19	1935	-			591			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1765G>A	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939365	0.73557	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.17691	2.26;2.26	5.11	5.11	0.69529	.	0.178973	0.45361	D	0.000361	T	0.18964	0.0455	L	0.47716	1.5	0.41734	D	0.989575	P;P	0.45176	0.821;0.852	B;B	0.40165	0.215;0.321	T	0.01914	-1.1248	10	0.41790	T	0.15	-10.5963	17.3409	0.87296	0.0:1.0:0.0:0.0	.	589;591	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	T	591;589	ENSP00000380785:A591T;ENSP00000264827:A589T	ENSP00000264827:A589T	A	-	1	0	HOOK2	12736684	1.000000	0.71417	0.089000	0.20774	0.285000	0.27093	6.450000	0.73477	2.386000	0.81285	0.650000	0.86243	GCG		0.647	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		7	104	0	0	0	1	0	7	104				
GPR142	350383	broad.mit.edu	37	17	72363725	72363725	+	Silent	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:72363725T>C	ENST00000335666.4	+	1	129	c.81T>C	c.(79-81)ggT>ggC	p.G27G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	27						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTGTCCTGGGTACAGAAGCAT	0.507																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(79-81)ggT>ggC		G protein-coupled receptor 142							117.0	98.0	105.0					17																	72363725		2203	4300	6503	SO:0001819	synonymous_variant	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72363725T>C	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.81T>C	17.37:g.72363725T>C							p.G27G	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			1	129	+			27					A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	c.81T>C	CCDS11698.1																																																																																				0.507	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		12	40	0	0	0	1	0	12	40				
KCNH7	90134	broad.mit.edu	37	2	163279881	163279881	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:163279881C>T	ENST00000332142.5	-	9	2218	c.2119G>A	c.(2119-2121)Gca>Aca	p.A707T	KCNH7_ENST00000328032.4_Missense_Mutation_p.A700T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	707					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TAAGTCCATGCGTGCTGGAAA	0.438																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2119-2121)Gca>Aca		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						247.0	230.0	236.0					2																	163279881		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163279881C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2119G>A	2.37:g.163279881C>T	ENSP00000331727:p.Ala707Thr					KCNH7_ENST00000328032.4_Missense_Mutation_p.A700T	p.A707T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			9	2218	-			707					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2119G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816943	0.70912	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96554	-4.05;-4.05	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.94742	0.8303	N	0.25245	0.725	0.80722	D	1	D;B	0.58970	0.984;0.259	P;B	0.55785	0.784;0.049	D	0.91184	0.4978	10	0.05620	T	0.96	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	700;707	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	T	707;700	ENSP00000331727:A707T;ENSP00000333781:A700T	ENSP00000333781:A700T	A	-	1	0	KCNH7	162988127	1.000000	0.71417	0.688000	0.30117	0.963000	0.63663	4.815000	0.62634	2.756000	0.94617	0.561000	0.74099	GCA		0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		27	110	0	0	0	1	0	27	110				
CMYA5	202333	broad.mit.edu	37	5	79027136	79027136	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr5:79027136G>T	ENST00000446378.2	+	2	2579	c.2548G>T	c.(2548-2550)Gtt>Ttt	p.V850F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	850					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGATTTGGTTGTTGCATCTGA	0.478																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(2548-2550)Gtt>Ttt		cardiomyopathy associated 5							92.0	91.0	91.0					5																	79027136		1984	4153	6137	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79027136G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2548G>T	5.37:g.79027136G>T	ENSP00000394770:p.Val850Phe						p.V850F	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2579	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	850					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2548G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265285	0.23136	.	.	ENSG00000164309	ENST00000446378	T	0.25912	1.77	4.87	-8.62	0.00881	.	1.821840	0.02537	N	0.094185	T	0.07413	0.0187	N	0.01874	-0.695	0.09310	N	1	P	0.48230	0.907	B	0.39935	0.314	T	0.38993	-0.9635	10	0.62326	D	0.03	.	1.8386	0.03145	0.2093:0.3493:0.1144:0.327	.	850	Q8N3K9	CMYA5_HUMAN	F	850	ENSP00000394770:V850F	ENSP00000394770:V850F	V	+	1	0	CMYA5	79062892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.814000	0.01723	-1.783000	0.01274	-2.211000	0.00300	GTT		0.478	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	58	1	0	0.248553	1	0.248553	5	58				
CD5L	922	broad.mit.edu	37	1	157804497	157804497	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:157804497G>T	ENST00000368174.4	-	4	514	c.418C>A	c.(418-420)Ctg>Atg	p.L140M	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	140	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.L140L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCGTCAGCCAGCCTGACACCC	0.582																																						ENST00000368174.4																			1	Substitution - coding silent(1)	p.L140L(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(418-420)Ctg>Atg		CD5 molecule-like							73.0	75.0	75.0					1																	157804497		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804497G>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.418C>A	1.37:g.157804497G>T	ENSP00000357156:p.Leu140Met						p.L140M	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	514	-	all_hematologic(112;0.0378)		140			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.418C>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233768	0.58886	.	.	ENSG00000073754	ENST00000368174	T	0.60299	0.2	4.82	3.91	0.45181	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.35124	N	0.003438	T	0.71230	0.3315	M	0.93939	3.475	0.30981	N	0.722529	D	0.89917	1.0	D	0.91635	0.999	T	0.71447	-0.4590	10	0.59425	D	0.04	.	7.2807	0.26310	0.1938:0.0:0.8062:0.0	.	140	O43866	CD5L_HUMAN	M	140	ENSP00000357156:L140M	ENSP00000357156:L140M	L	-	1	2	CD5L	156071121	0.960000	0.32886	0.036000	0.18154	0.057000	0.15508	1.398000	0.34554	1.253000	0.44018	0.563000	0.77884	CTG		0.582	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		10	43	1	0	0.0809354	1	0.0871612	10	43				
APBB1IP	54518	broad.mit.edu	37	10	26790053	26790053	+	Intron	SNP	G	G	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr10:26790053G>C	ENST00000376236.4	+	5	908				APBB1IP_ENST00000356785.4_Missense_Mutation_p.D156H	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AAGTATGTGGGACCAGAGATG	0.483																																						ENST00000356785.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(466-468)Gac>Cac		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							134.0	120.0	125.0					10																	26790053		2203	4300	6503	SO:0001627	intron_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26790053G>C	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.453+13G>C	10.37:g.26790053G>C						APBB1IP_ENST00000376236.4_Intron	p.D156H			Q7Z5R6	AB1IP_HUMAN			5	699	+			0					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.466G>C	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	7.993	0.753646	0.15778	.	.	ENSG00000077420	ENST00000356785	.	.	.	4.46	3.55	0.40652	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.09310	N	1	P	0.36249	0.545	B	0.38755	0.281	T	0.13255	-1.0516	6	.	.	.	.	11.6321	0.51181	0.0844:0.0:0.9156:0.0	.	156	Q8IYL7	.	H	156	.	.	D	+	1	0	APBB1IP	26830059	0.030000	0.19436	0.010000	0.14722	0.013000	0.08279	1.129000	0.31381	1.460000	0.47911	0.563000	0.77884	GAC		0.483	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		18	69	0	0	0	1	0	18	69				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			0							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T														0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	9	0	0	0	1	0	3	9				
BBS1	582	broad.mit.edu	37	11	66291318	66291318	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr11:66291318C>T	ENST00000318312.7	+	11	1126	c.1075C>T	c.(1075-1077)Cgt>Tgt	p.R359C	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R396C|BBS1_ENST00000455748.2_Missense_Mutation_p.R262C|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	359					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CCGCATTTATCGTGACAAGGC	0.627									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1186-1188)Cgt>Tgt									61.0	58.0	59.0					11																	66291318		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66291318C>T	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1075C>T	11.37:g.66291318C>T	ENSP00000317469:p.Arg359Cys					BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.R359C|BBS1_ENST00000455748.2_Missense_Mutation_p.R262C|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Intron	p.R396C							11	1264	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1186C>T	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729825	0.69074	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	T;T;T	0.59502	0.26;0.26;0.26	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	T	0.62624	0.2443	L	0.47190	1.495	0.80722	D	1	D;P;D;D;D	0.71674	0.996;0.932;0.998;0.994;0.994	P;B;P;P;P	0.55713	0.721;0.169;0.782;0.721;0.629	T	0.65113	-0.6247	9	0.66056	D	0.02	.	11.7399	0.51786	0.176:0.824:0.0:0.0	.	34;262;247;359;396	B4DH75;E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;BBS1_HUMAN;.	C	396;359;262	ENSP00000398526:R396C;ENSP00000317469:R359C;ENSP00000405764:R262C	ENSP00000317469:R359C	R	+	1	0	BBS1;CTD-3074O7.11	66047894	1.000000	0.71417	0.925000	0.36789	0.478000	0.33099	2.565000	0.45939	2.536000	0.85505	0.561000	0.74099	CGT		0.627	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			9	30	0	0	0	1	0	9	30				
C2orf16	84226	broad.mit.edu	37	2	27802537	27802537	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:27802537C>T	ENST00000408964.2	+	1	3149	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1033						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCAGAGTCTTCCCTCAGCATA	0.453																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3097-3099)tCc>tTc		chromosome 2 open reading frame 16							100.0	104.0	103.0					2																	27802537		2105	4247	6352	SO:0001583	missense	84226							g.chr2:27802537C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3098C>T	2.37:g.27802537C>T	ENSP00000386190:p.Ser1033Phe						p.S1033F	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	3149	+	Acute lymphoblastic leukemia(172;0.155)		1033					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3098C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	8.813	0.935658	0.18206	.	.	ENSG00000221843	ENST00000408964	T	0.09630	2.96	4.02	3.14	0.36123	.	.	.	.	.	T	0.07369	0.0186	L	0.27053	0.805	0.09310	N	1	P	0.35242	0.492	B	0.29663	0.105	T	0.26780	-1.0093	9	0.87932	D	0	.	7.7515	0.28901	0.0:0.8859:0.0:0.1141	.	1033	Q68DN1	CB016_HUMAN	F	1033	ENSP00000386190:S1033F	ENSP00000386190:S1033F	S	+	2	0	C2orf16	27656041	0.127000	0.22367	0.164000	0.22755	0.056000	0.15407	1.023000	0.30065	1.282000	0.44496	0.467000	0.42956	TCC		0.453	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		18	74	0	0	0	1	0	18	74				
RAD54L2	23132	broad.mit.edu	37	3	51673507	51673507	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr3:51673507G>A	ENST00000409535.2	+	12	2058	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	RAD54L2_ENST00000296477.3_Missense_Mutation_p.V339M	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	645						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGACCTAGACGTGGAAGAACT	0.557																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(1933-1935)Gtg>Atg		RAD54-like 2 (S. cerevisiae)							99.0	84.0	89.0					3																	51673507		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51673507G>A	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1933G>A	3.37:g.51673507G>A	ENSP00000386520:p.Val645Met					RAD54L2_ENST00000296477.3_Missense_Mutation_p.V339M	p.V645M	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	12	2058	+			645					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.1933G>A	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.011857|3.011857	0.54468|0.54468	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|T;T	.|0.76060	.|-0.99;-0.99	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.062950	.|0.64402	.|D	.|0.000004	T|T	0.78413|0.78413	0.4279|0.4279	L|L	0.44542|0.44542	1.39|1.39	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D	.|0.63880	.|0.993;0.993	.|P;P	.|0.54431	.|0.752;0.669	T|T	0.78226|0.78226	-0.2286|-0.2286	5|10	.|0.48119	.|T	.|0.1	-13.0501|-13.0501	18.6879|18.6879	0.91571|0.91571	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|645;236	.|Q9Y4B4;B3KV54	.|ARIP4_HUMAN;.	H|M	473|645;339	.|ENSP00000386520:V645M;ENSP00000296477:V339M	.|ENSP00000296477:V339M	R|V	+|+	2|1	0|0	RAD54L2|RAD54L2	51648547|51648547	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.936000|0.936000	0.57629|0.57629	6.933000|6.933000	0.75874|0.75874	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.557	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		9	27	0	0	0	1	0	9	27				
ADAMTS3	9508	broad.mit.edu	37	4	73186558	73186558	+	Silent	SNP	T	T	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:73186558T>A	ENST00000286657.4	-	7	1011	c.975A>T	c.(973-975)ccA>ccT	p.P325P	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	325	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCTTCTGGATGGGTTTCCCC	0.438																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(973-975)ccA>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 3							138.0	130.0	133.0					4																	73186558		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73186558T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.975A>T	4.37:g.73186558T>A							p.P325P	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	1011	-			325			Peptidase M12B.		A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.975A>T	CCDS3553.1																																																																																				0.438	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			13	48	0	0	0	1	0	13	48				
OR56A3	390083	broad.mit.edu	37	11	5969418	5969418	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr11:5969418A>G	ENST00000329564.6	+	1	849	c.842A>G	c.(841-843)aAt>aGt	p.N281S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTTGCTCAATGTTCTCCAC	0.478																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(841-843)aAt>aGt		olfactory receptor, family 56, subfamily A, member 3							176.0	167.0	170.0					11																	5969418		2147	4269	6416	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969418A>G		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.842A>G	11.37:g.5969418A>G	ENSP00000331572:p.Asn281Ser						p.N281S	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	849	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	281					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.842A>G	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562963	0.45694	.	.	ENSG00000184478	ENST00000329564	T	0.00016	9.12	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.00241	0.0007	L	0.37507	1.11	0.29676	N	0.842114	D	0.89917	1.0	D	0.91635	0.999	T	0.60383	-0.7274	10	0.87932	D	0	-29.8695	10.1284	0.42663	0.8321:0.1679:0.0:0.0	.	281	Q8NH54	O56A3_HUMAN	S	281	ENSP00000331572:N281S	ENSP00000331572:N281S	N	+	2	0	OR56A3	5925994	0.103000	0.21917	0.997000	0.53966	0.685000	0.39939	1.990000	0.40717	2.159000	0.67721	0.514000	0.50259	AAT		0.478	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		27	93	0	0	0	1	0	27	93				
GSTA2	2939	broad.mit.edu	37	6	52619834	52619834	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr6:52619834A>G	ENST00000493422.1	-	4	334	c.179T>C	c.(178-180)aTt>aCt	p.I60T		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	60	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	CATCCCATCAATCTCAACCAT	0.428																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(178-180)aTt>aCt		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						124.0	123.0	124.0					6																	52619834		2203	4298	6501	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52619834A>G	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.179T>C	6.37:g.52619834A>G	ENSP00000420168:p.Ile60Thr						p.I60T	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			4	334	-	Lung NSC(77;0.118)		60			GST N-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.179T>C	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	a	17.17	3.322239	0.60634	.	.	ENSG00000244067	ENST00000493422	T	0.07327	3.2	3.64	3.64	0.41730	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	M	0.85945	2.785	0.53005	D	0.999968	P	0.35774	0.519	D	0.67231	0.95	T	0.00448	-1.1733	10	0.66056	D	0.02	.	11.322	0.49428	1.0:0.0:0.0:0.0	.	60	P09210	GSTA2_HUMAN	T	60	ENSP00000420168:I60T	ENSP00000420168:I60T	I	-	2	0	GSTA2	52727793	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	8.301000	0.89951	1.310000	0.45006	0.254000	0.18369	ATT		0.428	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		10	182	0	0	0	1	0	10	182				
ZNF71	58491	broad.mit.edu	37	19	57133480	57133480	+	Silent	SNP	C	C	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:57133480C>T	ENST00000328070.6	+	3	1059	c.825C>T	c.(823-825)tgC>tgT	p.C275C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCCCCGAGTGCGGGCGAGCCT	0.662																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(823-825)tgC>tgT		zinc finger protein 71							52.0	56.0	54.0					19																	57133480		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133480C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.825C>T	19.37:g.57133480C>T							p.C275C	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1059	+			275					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.825C>T	CCDS12947.1																																																																																				0.662	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		4	77	0	0	0	1	0	4	77				
OR9A4	130075	broad.mit.edu	37	7	141619260	141619260	+	Silent	SNP	G	G	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr7:141619260G>A	ENST00000548136.1	+	1	644	c.585G>A	c.(583-585)acG>acA	p.T195T	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTCTTTTCACGGAGTTTATCC	0.388																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(583-585)acG>acA		olfactory receptor, family 9, subfamily A, member 4							145.0	149.0	148.0					7																	141619260		2097	4263	6360	SO:0001819	synonymous_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619260G>A		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.585G>A	7.37:g.141619260G>A						MGAM_ENST00000497554.1_Intron	p.T195T	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	644	+	Melanoma(164;0.0171)		195					B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.585G>A	CCDS43661.1																																																																																				0.388	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		19	137	0	0	0	1	0	19	137				
SLC25A27	9481	broad.mit.edu	37	6	46637938	46637938	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr6:46637938G>T	ENST00000371347.5	+	7	1023	c.771G>T	c.(769-771)atG>atT	p.M257I	RP11-446F17.3_ENST00000571590.1_RNA|SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I|SLC25A27_ENST00000411689.2_Intron|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	257					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GCAGAATAATGAATCAACCAC	0.348																																						ENST00000371347.5																			0				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(769-771)atG>atT		solute carrier family 25, member 27							75.0	71.0	72.0					6																	46637938		1827	4085	5912	SO:0001583	missense	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46637938G>T	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.771G>T	6.37:g.46637938G>T	ENSP00000360398:p.Met257Ile					SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I	p.M257I	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	Lung(136;0.192)		7	1023	+			257					F5GWR4|Q5VTS9|Q8N518	Missense_Mutation	SNP	ENST00000371347.5	37	c.771G>T	CCDS43470.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.9|27.9|27.9	4.869822|4.869822|4.869822	0.91587|0.91587|0.91587	.|.|.	.|.|.	ENSG00000153291|ENSG00000153291|ENSG00000153291	ENST00000444329|ENST00000371347;ENST00000355073;ENST00000452689|ENST00000417490	.|T;T|.	.|0.78816|.	.|-1.21;-1.21|.	5.72|5.72|5.72	5.72|5.72|5.72	0.89469|0.89469|0.89469	.|Mitochondrial carrier domain (2);|.	.|0.097175|.	.|0.64402|.	.|D|.	.|0.000003|.	.|D|.	.|0.83403|.	.|0.5247|.	M|M|M	0.91510|0.91510|0.91510	3.215|3.215|3.215	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0|.	.|D;D;D|.	.|0.97110|.	.|0.999;1.0;1.0|.	.|D|.	.|0.86424|.	.|0.1756|.	.|10|.	.|0.66056|.	.|D|.	.|0.02|.	-19.7912|-19.7912|-19.7912	17.3513|17.3513|17.3513	0.87324|0.87324|0.87324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|171;257;257|.	.|B4DZG4;Q5VTS9;O95847|.	.|.;.;UCP4_HUMAN|.	X|I|L	102|257;101;171|55	.|ENSP00000360398:M257I;ENSP00000412223:M171I|.	.|ENSP00000347185:M101I|.	E|M|X	+|+|+	1|3|2	0|0|2	SLC25A27|SLC25A27|SLC25A27	46745897|46745897|46745897	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.017000|7.017000|7.017000	0.76399|0.76399|0.76399	2.698000|2.698000|2.698000	0.92095|0.92095|0.92095	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|ATG|TGA		0.348	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		4	58	1	0	0.150653	1	0.158186	4	58				
TRAT1	50852	broad.mit.edu	37	3	108572602	108572602	+	Missense_Mutation	SNP	G	G	A	rs142175794		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr3:108572602G>A	ENST00000295756.6	+	6	669	c.439G>A	c.(439-441)Gtt>Att	p.V147I	TRAT1_ENST00000426646.1_Missense_Mutation_p.V110I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	147					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGATGCCAGCGTTTCTAAGAC	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20417	0.0		0.0	False		,,,				2504	0.0					ENST00000295756.6																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(439-441)Gtt>Att		T cell receptor associated transmembrane adaptor 1		G	ILE/VAL	9,4397	15.5+/-35.6	0,9,2194	97.0	91.0	93.0		439	-10.6	0.0	3	dbSNP_134	93	0,8600		0,0,4300	yes	missense	TRAT1	NM_016388.2	29	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	147/187	108572602	9,12997	2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572602G>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.439G>A	3.37:g.108572602G>A	ENSP00000295756:p.Val147Ile					TRAT1_ENST00000426646.1_Missense_Mutation_p.V110I	p.V147I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN			6	669	+			147					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.439G>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	9.607	1.130369	0.21041	0.002043	0.0	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.36157	1.27;1.41	5.85	-10.6	0.00265	.	1.763740	0.02509	N	0.091292	T	0.22085	0.0532	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.13495	-1.0507	10	0.33940	T	0.23	-25.2205	12.3914	0.55360	0.1463:0.3351:0.5187:0.0	.	110;147	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	I	147;110	ENSP00000295756:V147I;ENSP00000410097:V110I	ENSP00000295756:V147I	V	+	1	0	TRAT1	110055292	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.815000	0.04481	-1.315000	0.02297	-0.982000	0.02568	GTT		0.458	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		8	53	0	0	0	1	0	8	53				
TXNRD2	10587	broad.mit.edu	37	22	19903312	19903312	+	Silent	SNP	G	G	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr22:19903312G>A	ENST00000400521.1	-	6	510	c.504C>T	c.(502-504)tgC>tgT	p.C168C	TXNRD2_ENST00000400519.1_Silent_p.C167C|TXNRD2_ENST00000542719.1_Silent_p.C138C|TXNRD2_ENST00000535882.1_Silent_p.C167C|TXNRD2_ENST00000334363.9_Silent_p.C168C|TXNRD2_ENST00000400518.1_Silent_p.C138C|TXNRD2_ENST00000491939.1_5'UTR	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	168					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGCAACGCCGCAAACCGTGT	0.463																																						ENST00000400519.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(499-501)tgC>tgT		thioredoxin reductase 2							91.0	96.0	94.0					22																	19903312		1991	4157	6148	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19903312G>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.504C>T	22.37:g.19903312G>A						TXNRD2_ENST00000400518.1_Silent_p.C138C|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400521.1_Silent_p.C168C|TXNRD2_ENST00000542719.1_Silent_p.C138C|TXNRD2_ENST00000334363.9_Silent_p.C168C|TXNRD2_ENST00000535882.1_Silent_p.C167C|TXNRD2_ENST00000400525.1_Silent_p.C145C	p.C167C			Q9NNW7	TRXR2_HUMAN			6	500	-	Colorectal(54;0.0993)		168					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.501C>T	CCDS42981.1																																																																																				0.463	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		3	55	0	0	0	1	0	3	55				
KTN1	3895	broad.mit.edu	37	14	56079014	56079014	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr14:56079014A>G	ENST00000395314.3	+	2	316	c.248A>G	c.(247-249)gAc>gGc	p.D83G	KTN1_ENST00000395311.1_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000416613.1_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_Missense_Mutation_p.D83G|KTN1_ENST00000438792.2_Missense_Mutation_p.D83G|KTN1_ENST00000413890.2_Missense_Mutation_p.D83G	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	83					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTACCTCGAGACTTTAAATTA	0.358			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(247-249)gAc>gGc		kinectin 1 (kinesin receptor)							77.0	82.0	80.0					14																	56079014		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56079014A>G		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.248A>G	14.37:g.56079014A>G	ENSP00000378725:p.Asp83Gly					KTN1_ENST00000438792.2_Missense_Mutation_p.D83G|KTN1_ENST00000395311.1_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000413890.2_Missense_Mutation_p.D83G|KTN1_ENST00000395314.3_Missense_Mutation_p.D83G	p.D83G			Q86UP2	KTN1_HUMAN			1	320	+			83					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.248A>G	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469117	0.84533	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	5.63	5.63	0.86233	.	0.107276	0.41001	D	0.000968	D	0.98792	0.9593	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D	0.61697	0.981;0.99;0.981;0.981	P;P;P;P	0.61275	0.886;0.886;0.886;0.886	D	0.99698	1.1003	10	0.51188	T	0.08	-12.1296	15.8388	0.78824	1.0:0.0:0.0:0.0	.	83;83;83;83	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	G	83	ENSP00000394992:D83G;ENSP00000378720:D83G;ENSP00000391964:D83G;ENSP00000378725:D83G;ENSP00000378719:D83G;ENSP00000378722:D83G;ENSP00000388807:D83G	ENSP00000378719:D83G	D	+	2	0	KTN1	55148767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.303000	0.89955	2.137000	0.66172	0.482000	0.46254	GAC		0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			14	53	0	0	0	1	0	14	53				
SLC19A2	10560	broad.mit.edu	37	1	169438005	169438005	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:169438005G>A	ENST00000236137.5	-	4	1336	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	SLC19A2_ENST00000367804.4_Missense_Mutation_p.S166F	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	367					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	AGAAAAGAGAGATAATGTCAT	0.383																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.(1099-1101)tCt>tTt		solute carrier family 19 (thiamine transporter), member 2							164.0	144.0	151.0					1																	169438005		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169438005G>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1100C>T	1.37:g.169438005G>A	ENSP00000236137:p.Ser367Phe					SLC19A2_ENST00000367802.3_Missense_Mutation_p.S329F|SLC19A2_ENST00000367804.3_Missense_Mutation_p.S166F	p.S367F	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			4	1336	-	all_hematologic(923;0.208)		367					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.1100C>T	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245308	0.39697	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	T;T;T	0.80994	-1.44;-1.2;-1.44	5.58	4.66	0.58398	Major facilitator superfamily domain, general substrate transporter (1);	0.232641	0.45126	N	0.000399	T	0.56804	0.2010	L	0.28115	0.83	0.32702	N	0.512799	B;B	0.09022	0.002;0.001	B;B	0.13407	0.002;0.009	T	0.55829	-0.8079	9	0.44086	T	0.13	-8.5895	13.5565	0.61761	0.0758:0.0:0.9242:0.0	.	166;367	O60779-2;O60779	.;S19A2_HUMAN	F	367;166;329	ENSP00000236137:S367F;ENSP00000356778:S166F;ENSP00000356776:S329F	ENSP00000236137:S367F	S	-	2	0	SLC19A2	167704629	0.942000	0.31987	0.292000	0.24919	0.986000	0.74619	3.060000	0.49955	1.327000	0.45338	0.650000	0.86243	TCT		0.383	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		4	82	0	0	0	1	0	4	82				
ICT1	3396	broad.mit.edu	37	17	73016712	73016712	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:73016712A>C	ENST00000301585.5	+	5	509	c.496A>C	c.(496-498)Aag>Cag	p.K166Q		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	166					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					CCAGACACCGAAGGAGCCAAC	0.468																																						ENST00000301585.5																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(496-498)Aag>Cag		immature colon carcinoma transcript 1							68.0	68.0	68.0					17																	73016712		2203	4300	6503	SO:0001583	missense	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73016712A>C	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.496A>C	17.37:g.73016712A>C	ENSP00000301585:p.Lys166Gln						p.K166Q	NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN			5	509	+	all_lung(278;0.226)		166					B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	c.496A>C	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496392	0.26861	.	.	ENSG00000167862	ENST00000301585	T	0.18502	2.21	5.77	3.53	0.40419	Peptide chain release factor class I/class II (1);	0.669069	0.16209	N	0.224568	T	0.22898	0.0553	M	0.61703	1.905	0.36004	D	0.837573	B	0.32717	0.381	B	0.40901	0.343	T	0.10567	-1.0624	10	0.46703	T	0.11	-5.1496	8.0776	0.30726	0.7761:0.0:0.2239:0.0	.	166	Q14197	ICT1_HUMAN	Q	166	ENSP00000301585:K166Q	ENSP00000301585:K166Q	K	+	1	0	ICT1	70528307	0.001000	0.12720	0.191000	0.23289	0.839000	0.47603	1.426000	0.34870	0.444000	0.26612	0.459000	0.35465	AAG		0.468	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		3	56	0	0	0	1	0	3	56				
ARNTL2	56938	broad.mit.edu	37	12	27553667	27553667	+	Missense_Mutation	SNP	C	C	G	rs543030579		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr12:27553667C>G	ENST00000266503.5	+	10	1138	c.1120C>G	c.(1120-1122)Cgg>Ggg	p.R374G	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G|ARNTL2_ENST00000544915.1_Missense_Mutation_p.R340G|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	374	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATTTATAACCCGGTTTGCAGT	0.343																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1018-1020)Cgg>Ggg		aryl hydrocarbon receptor nuclear translocator-like 2							86.0	91.0	89.0					12																	27553667		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27553667C>G	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1120C>G	12.37:g.27553667C>G	ENSP00000266503:p.Arg374Gly					RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R374G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G	p.R340G	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			9	1237	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		374		N -> S (in dbSNP:rs1037921).			B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.1018C>G	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310778	0.60414	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98	4.05	3.13	0.36017	PAS (2);	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	H	0.96604	3.85	0.53688	D	0.999979	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.97110	0.992;0.996;0.992;0.992;1.0;0.995	T	0.73531	-0.3953	10	0.87932	D	0	.	13.1394	0.59426	0.1613:0.8387:0.0:0.0	.	337;340;337;326;360;374	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.;.;.;.;.;BMAL2_HUMAN	G	340;337;337;360;326;374;289	ENSP00000442438:R340G;ENSP00000379238:R337G;ENSP00000438545:R337G;ENSP00000312247:R360G;ENSP00000261178:R326G;ENSP00000266503:R374G;ENSP00000445836:R289G	ENSP00000261178:R326G	R	+	1	2	ARNTL2	27444934	0.975000	0.34042	0.995000	0.50966	0.993000	0.82548	2.412000	0.44609	1.016000	0.39470	0.655000	0.94253	CGG		0.343	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		15	62	0	0	0	1	0	15	62				
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378																																						ENST00000356526.2																			1	Substitution - coding silent(1)	p.C112C(1)	lung(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(334-336)tgT>tgC		olfactory receptor, family 5, subfamily H, member 15							119.0	117.0	117.0					3																	97887879		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887879T>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.336T>C	3.37:g.97887879T>C							p.C112C	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	336	+			112						Silent	SNP	ENST00000356526.2	37	c.336T>C	CCDS33799.1																																																																																				0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			4	277	0	0	0	1	0	4	277				
RBM12	10137	broad.mit.edu	37	20	34240746	34240746	+	Silent	SNP	G	G	A	rs191138663		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr20:34240746G>A	ENST00000374114.3	-	3	2762	c.2499C>T	c.(2497-2499)ccC>ccT	p.P833P	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Silent_p.P833P|RBM12_ENST00000374104.3_Silent_p.P833P|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	833	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ggccagggccggggccggggc	0.612																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2497-2499)ccC>ccT		RNA binding motif protein 12		G	,,,,,,,,,	3,4215		0,3,2106	16.0	18.0	17.0		2499,2499,,,2499,2499,,,,	0.1	0.9	20		17	3,8443		0,3,4220	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,coding-synonymous,intron,intron,intron,intron	CPNE1,RBM12	NM_001198838.1,NM_001198840.1,NM_001198863.1,NM_003915.5,NM_006047.5,NM_152838.3,NM_152925.2,NM_152926.2,NM_152927.2,NM_152928.2	,,,,,,,,,	0,6,6326	AA,AG,GG		0.0355,0.0711,0.0474	,,,,,,,,,	833/933,833/933,,,833/933,833/933,,,,	34240746	6,12658	2109	4223	6332	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240746G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2499C>T	20.37:g.34240746G>A						CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Silent_p.P833P|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.P833P	p.P833P	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2762	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		833			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.2499C>T	CCDS13261.1																																																																																				0.612	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		3	46	0	0	0	1	0	3	46				
UBXN11	91544	broad.mit.edu	37	1	26608795	26608796	+	In_Frame_Ins	INS	-	-	GGGGCT	rs146441030	byFrequency	TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:26608795_26608796insGGGGCT	ENST00000374222.1	-	16	2021_2022	c.1557_1558insAGCCCC	c.(1555-1560)ccccaa>cccAGCCCCcaa	p.518_519insPS	UBXN11_ENST00000374223.1_In_Frame_Ins_p.275_276insPS|UBXN11_ENST00000374221.3_In_Frame_Ins_p.518_519insPS|UBXN11_ENST00000357089.4_In_Frame_Ins_p.485_486insPS|UBXN11_ENST00000314675.7_In_Frame_Ins_p.398_399insPS|UBXN11_ENST00000374217.2_In_Frame_Ins_p.485_486insPS			Q5T124	UBX11_HUMAN	UBX domain protein 11	518	Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						GTGCTTTATTGggggctgggac	0.738														80	0.0159744	0.0575	0.0043	5008	,	,		11716	0.0		0.001	False		,,,				2504	0.0					ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1195-1200)ccaata>ccAGCCCCaata		UBX domain protein 11																																				SO:0001652	inframe_insertion	91544					cytoplasm|cytoskeleton		g.chr1:26608795_26608796insGGGGCT	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1552_1557dupAGCCCC	1.37:g.26608796_26608801dupGGGGCT	ENSP00000363339:p.Pro517_Ser518dup					UBXN11_ENST00000374217.2_In_Frame_Ins_p.485_486insPA|UBXN11_ENST00000357089.4_In_Frame_Ins_p.485_486insPA|UBXN11_ENST00000374222.1_In_Frame_Ins_p.518_519insPA|UBXN11_ENST00000374221.3_In_Frame_Ins_p.518_519insPA|UBXN11_ENST00000374223.1_In_Frame_Ins_p.275_276insPA	p.398_399insPA	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1276_1277	-			518			UBX.		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	In_Frame_Ins	INS	ENST00000374222.1	37	c.1197_1198insAGCCCC	CCDS41288.1																																																																																				0.738	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		6	10						6	10	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47339172	47339172	+	RNA	DEL	T	T	-			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:47339172delT	ENST00000505841.1	-	0	775					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										ACCAGCTGTCTTTTTTTTTTA	0.463																																						ENST00000505841.1																			0																																																			0							g.chr1:47339172delT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47339172delT								NR_002788.2						0	775	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.463	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		2	4						2	4	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	lincRNA	DEL	G	G	-	rs370329361		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393																																						ENST00000441803.1																			0																																																			0							g.chr2:217475010delG																													2.37:g.217475010delG														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.393	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			3	5						3	5	---	---	---	---
CCNI	10983	broad.mit.edu	37	4	77969728	77969728	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:77969728delA	ENST00000237654.4	-	7	1354	c.778delT	c.(778-780)tatfs	p.Y260fs	CCNI_ENST00000537948.1_Frame_Shift_Del_p.Y246fs	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	260					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CGGTAGACATAAACGGAATTC	0.527																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(778-780)atfs		cyclin I							91.0	84.0	86.0					4																	77969728		2203	4300	6503	SO:0001589	frameshift_variant	10983				spermatogenesis			g.chr4:77969728delA	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.778delT	4.37:g.77969728delA	ENSP00000237654:p.Tyr260fs					CCNI_ENST00000537948.1_Frame_Shift_Del_p.Y246fs	p.Y260fs	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			7	1354	-			260					B2R6M0|B7Z6X4	Frame_Shift_Del	DEL	ENST00000237654.4	37	c.778delT	CCDS3580.1																																																																																				0.527	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		9	54						9	54	---	---	---	---
C4orf51	646603	broad.mit.edu	37	4	146601486	146601486	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:146601486delC	ENST00000438731.1	+	1	131	c.131delC	c.(130-132)tccfs	p.S44fs		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	44										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TCAGATTCTTCCGTGACAACA	0.458																																						ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(130-132)tcfs		chromosome 4 open reading frame 51							141.0	134.0	136.0					4																	146601486		1952	4153	6105	SO:0001589	frameshift_variant	646603							g.chr4:146601486delC		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.131delC	4.37:g.146601486delC	ENSP00000391404:p.Ser44fs						p.S44fs	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN			1	131	+			44						Frame_Shift_Del	DEL	ENST00000438731.1	37	c.131delC	CCDS47140.1																																																																																				0.458	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		19	94						19	94	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		7	3						7	3	---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38482128	38482129	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr5:38482128_38482129insA	ENST00000263409.4	-	20	3024_3025	c.2862_2863insT	c.(2860-2865)attgagfs	p.E955fs	LIFR_ENST00000453190.2_Frame_Shift_Ins_p.E955fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	955					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATTTCTTCCTCAATGATGGGTG	0.46			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2860-2865)ataggafs		leukemia inhibitory factor receptor alpha																																				SO:0001589	frameshift_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38482128_38482129insA	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2863dupT	5.37:g.38482130_38482130dupA	ENSP00000263409:p.Glu955fs					LIFR_ENST00000453190.2_Frame_Shift_Ins_p.G955fs	p.G955fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			20	3024_3025	-	all_lung(31;0.00021)		955					Q6LCD9	Frame_Shift_Ins	INS	ENST00000263409.4	37	c.2862_2863insT	CCDS3927.1																																																																																				0.460	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		7	162						7	162	---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96439004	96439005	+	In_Frame_Ins	INS	-	-	CCTGCCTCCACCACA	rs75653373|rs149736720|rs368818072	byFrequency	TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr9:96439004_96439005insCCTGCCTCCACCACA	ENST00000359246.4	+	21	3328_3329	c.2961_2962insCCTGCCTCCACCACA	c.(2962-2964)ccg>CCTGCCTCCACCACAccg	p.988_988P>PASTTP	PHF2_ENST00000375376.4_In_Frame_Ins_p.219_219P>PASTTP	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	988	Ser/Thr-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.T987_P988insPASTT(1)|p.T987T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		cctctaccaccccggcctccac	0.688														2369	0.473043	0.6853	0.4265	5008	,	,		14854	0.4246		0.5089	False		,,,				2504	0.2321					ENST00000359246.4																			2	Insertion - In frame(1)|Substitution - coding silent(1)	p.T987_P988insPASTT(1)|p.T987T(1)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc		PHD finger protein 2				3102,73,967		1205,35,657,8,22,144						0.7	1.0		dbSNP_130	68	5084,99,2939		1725,33,1601,12,42,648	no	codingComplex	PHF2	NM_005392.3		2930,68,2258,20,64,792	A1A1,A1A2,A1R,A2A2,A2R,RR		37.4046,25.1086,33.2518				8186,172,3906				SO:0001652	inframe_insertion	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96439004_96439005insCCTGCCTCCACCACA	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	Exception_encountered	9.37:g.96439004_96439005insCCTGCCTCCACCACA	ENSP00000352185:p.AlaSerThrThrPro993dup					PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG	p.987_988TG>TLPPPHG	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	21	3328_3329	+		Myeloproliferative disorder(762;0.0255)	987			Ser/Thr-rich.		Q4VXG0|Q8N3K2|Q9Y6N4	In_Frame_Ins	INS	ENST00000359246.4	37	c.2961_2962insCCTGCCTCCACCACA	CCDS35069.1																																																																																				0.688	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		5	1						5	1	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709885	22709885	+	RNA	DEL	G	G	-	rs372484877		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr15:22709885delG	ENST00000314246.8	-	0	1069				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											TATCTAATGTGGGGGGGGCTG	0.537																																						ENST00000314246.8																			0																																																			0							g.chr15:22709885delG			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709885delG														0	1069	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.537	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		7	22						7	22	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000509083.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|POLDIP2_ENST00000540200.1_Splice_Site	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		5	11						5	11	---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10781285	10781286	+	Splice_Site	INS	-	-	T	rs111709385		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:10781285_10781286insT	ENST00000590261.1	+	1	3		c.e1+1		ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000449870.1_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000250241.8_Splice_Site			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGTAAAAATGGTAAGTTTGTTT	0.332																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.e2+1		interleukin enhancer binding factor 3, 90kDa																																				SO:0001630	splice_region_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10781285_10781286insT	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.3+1->T	19.37:g.10781286_10781286dupT						ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000590261.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000407004.3_Splice_Site		NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		2	320	+								A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Splice_Site	INS	ENST00000590261.1	37		CCDS12246.1																																																																																				0.332	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		Intron	9	52						9	52	---	---	---	---
