#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
ARL16	339231	broad.mit.edu	37	17	79650772	79650772	+	Silent	SNP	C	C	G			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr17:79650772C>G	ENST00000397498.4	-	1	182	c.84G>C	c.(82-84)ctG>ctC	p.L28L	HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000576135.1_5'Flank|ARL16_ENST00000570561.1_5'Flank|ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000574938.1_5'Flank	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	28					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGCCCCCAGCAGGAGACACA	0.701																																						ENST00000397498.4																			0				central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7						c.(82-84)ctG>ctC		ADP-ribosylation factor-like 16							14.0	18.0	17.0					17																	79650772		1906	4104	6010	SO:0001819	synonymous_variant	339231						GTP binding	g.chr17:79650772C>G		CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.84G>C	17.37:g.79650772C>G							p.L28L	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		1	182	-	all_neural(118;0.0878)|all_lung(278;0.23)		28						Silent	SNP	ENST00000397498.4	37	c.84G>C	CCDS45813.1																																																																																				0.701	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440514.1	XM_290777		4	9	0	0	0	1	0	4	9				
ANK2	287	broad.mit.edu	37	4	114278436	114278436	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr4:114278436A>T	ENST00000357077.4	+	38	8715	c.8662A>T	c.(8662-8664)Aag>Tag	p.K2888*	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.K2855*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2888					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAACTTACCAAAGGACTGCCC	0.383																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8662-8664)Aag>Tag		ankyrin 2, neuronal							123.0	122.0	122.0					4																	114278436		2203	4300	6503	SO:0001587	stop_gained	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278436A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8662A>T	4.37:g.114278436A>T	ENSP00000349588:p.Lys2888*					ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.K2855*	p.K2888*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8715	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2855					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	c.8662A>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	48	14.545925	0.99800	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.43	-0.562	0.11781	.	0.965790	0.08500	N	0.936551	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7454	0.34583	0.6011:0.0:0.3989:0.0	.	.	.	.	X	2888;2855	.	.	K	+	1	0	ANK2	114497885	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.740000	0.04861	-0.107000	0.12088	0.533000	0.62120	AAG		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		4	113	0	0	0	1	0	4	113				
KCNG2	26251	broad.mit.edu	37	18	77659468	77659468	+	Silent	SNP	C	C	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr18:77659468C>T	ENST00000316249.3	+	2	1053	c.1053C>T	c.(1051-1053)cgC>cgT	p.R351R	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	351					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R351R(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGCGCGCCGCGACTTCTCCA	0.721																																						ENST00000316249.3																			1	Substitution - coding silent(1)	p.R351R(1)	endometrium(1)	breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1051-1053)cgC>cgT		potassium voltage-gated channel, subfamily G, member 2							17.0	18.0	18.0					18																	77659468		2200	4297	6497	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659468C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1053C>T	18.37:g.77659468C>T						KCNG2_ENST00000590307.1_3'UTR	p.R351R	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1053	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	351						Silent	SNP	ENST00000316249.3	37	c.1053C>T	CCDS12019.1																																																																																				0.721	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		8	17	0	0	0	1	0	8	17				
MAP2	4133	broad.mit.edu	37	2	210588329	210588329	+	Intron	SNP	T	T	A			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr2:210588329T>A	ENST00000360351.4	+	13	5579				MAP2_ENST00000199940.6_Nonsense_Mutation_p.L396*|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|RNA5SP118_ENST00000410385.1_RNA|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2						axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GTTAGGATTTTAAACAAGAAG	0.408																																					Pancreas(27;423 979 28787 29963)	ENST00000199940.6																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(1186-1188)tTa>tAa		microtubule-associated protein 2	Estramustine(DB01196)						86.0	85.0	85.0					2																	210588329		2203	4300	6503	SO:0001627	intron_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210588329T>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5074-2104T>A	2.37:g.210588329T>A						MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000360351.4_Intron|MAP2_ENST00000475600.1_3'UTR	p.L396*	NM_001039538.1	NP_001034627.1	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	1627	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1674					Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	ENST00000360351.4	37	c.1187T>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	T	41	8.578727	0.98870	.	.	ENSG00000078018	ENST00000199940	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	15.7243	0.77743	0.0:0.0:0.0:1.0	.	.	.	.	X	396	.	ENSP00000199940:L396X	L	+	2	0	MAP2	210296574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.010000	0.64004	2.109000	0.64355	0.533000	0.62120	TTA		0.408	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		11	28	0	0	0	1	0	11	28				
RSF1	51773	broad.mit.edu	37	11	77412452	77412452	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:77412452C>G	ENST00000308488.6	-	6	2124	c.1822G>C	c.(1822-1824)Gaa>Caa	p.E608Q	RSF1_ENST00000480887.1_Missense_Mutation_p.E356Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E577Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	608					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GGAACTTCTTCTGGTATTGGA	0.423																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1822-1824)Gaa>Caa		remodeling and spacing factor 1							107.0	110.0	109.0					11																	77412452		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412452C>G	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1822G>C	11.37:g.77412452C>G	ENSP00000311513:p.Glu608Gln					RSF1_ENST00000480887.1_Missense_Mutation_p.E356Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E577Q	p.E608Q			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2124	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		608					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.1822G>C	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311757	0.60414	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.87966	-2.22;-2.25;-2.22;-2.32;0.76	5.23	5.23	0.72850	.	0.000000	0.56097	D	0.000026	D	0.86100	0.5852	L	0.29908	0.895	0.34679	D	0.7245	P	0.52842	0.956	P	0.50082	0.63	D	0.90044	0.4144	10	0.56958	D	0.05	-20.7044	18.6023	0.91253	0.0:1.0:0.0:0.0	.	608	Q96T23	RSF1_HUMAN	Q	608;356;577;409;607	ENSP00000311513:E608Q;ENSP00000434509:E356Q;ENSP00000353511:E577Q;ENSP00000432022:E409Q;ENSP00000436408:E607Q	ENSP00000311513:E608Q	E	-	1	0	RSF1	77090100	0.700000	0.27796	1.000000	0.80357	0.983000	0.72400	2.020000	0.41010	2.726000	0.93360	0.655000	0.94253	GAA		0.423	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		33	64	0	0	0	1	0	33	64				
KCNJ6	3763	broad.mit.edu	37	21	39086716	39086716	+	Silent	SNP	C	C	T	rs370165848		TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr21:39086716C>T	ENST00000609713.1	-	3	1333	c.744G>A	c.(742-744)tcG>tcA	p.S248S	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Silent_p.S248S	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	248					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACTCCCCCTCCGAGGTCTGTT	0.517																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(742-744)tcG>tcA		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)	C		0,3820		0,0,1910	97.0	98.0	98.0		744	-12.3	0.0	21		98	1,8279		0,1,4139	no	coding-synonymous	KCNJ6	NM_002240.2		0,1,6049	TT,TC,CC		0.0121,0.0,0.0083		248/424	39086716	1,12099	1910	4140	6050	SO:0001819	synonymous_variant	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39086716C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.744G>A	21.37:g.39086716C>T						KCNJ6_ENST00000288309.6_Silent_p.S248S	p.S248S	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	1333	-			248					Q3MJ74|Q53WW6	Silent	SNP	ENST00000609713.1	37	c.744G>A	CCDS42927.1																																																																																				0.517	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		3	61	0	0	0	1	0	3	61				
HTR3B	9177	broad.mit.edu	37	11	113813797	113813797	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:113813797C>T	ENST00000260191.2	+	7	1047	c.790C>T	c.(790-792)Cca>Tca	p.P264S	HTR3B_ENST00000537778.1_Missense_Mutation_p.P253S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	264					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CTTCTACCTGCCACCCAACTG	0.587																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(790-792)Cca>Tca		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							106.0	84.0	91.0					11																	113813797		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113813797C>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.790C>T	11.37:g.113813797C>T	ENSP00000260191:p.Pro264Ser					HTR3B_ENST00000537778.1_Missense_Mutation_p.P253S	p.P264S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	7	1047	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	264					B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.790C>T	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468770	0.84533	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.88586	-2.4;-2.4	5.41	5.41	0.78517	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95404	0.8508	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95843	0.8868	10	0.87932	D	0	-14.9768	19.1959	0.93689	0.0:1.0:0.0:0.0	.	253;264	O95264-2;O95264	.;5HT3B_HUMAN	S	264;253	ENSP00000260191:P264S;ENSP00000443118:P253S	ENSP00000260191:P264S	P	+	1	0	HTR3B	113319007	1.000000	0.71417	0.728000	0.30774	0.647000	0.38526	7.727000	0.84838	2.549000	0.85964	0.650000	0.86243	CCA		0.587	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		16	23	0	0	0	1	0	16	23				
ERGIC3	51614	broad.mit.edu	37	20	34143849	34143849	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr20:34143849T>A	ENST00000348547.2	+	9	840	c.763T>A	c.(763-765)Tat>Aat	p.Y255N	ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y270N|ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000357394.4_Missense_Mutation_p.Y260N|ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y260N	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	255					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGGGGAGGACTATCCAGGCAT	0.587																																						ENST00000348547.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16						c.(763-765)Tat>Aat		ERGIC and golgi 3							196.0	184.0	188.0					20																	34143849		2203	4300	6503	SO:0001583	missense	51614				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	g.chr20:34143849T>A	AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.763T>A	20.37:g.34143849T>A	ENSP00000341358:p.Tyr255Asn					ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y260N|ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y270N|ERGIC3_ENST00000357394.4_Missense_Mutation_p.Y260N	p.Y255N	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		9	840	+	Lung NSC(9;0.00489)|all_lung(11;0.00729)		255					Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	ENST00000348547.2	37	c.763T>A	CCDS13257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.0|26.0	4.695967|4.695967	0.88830|0.88830	.|.	.|.	ENSG00000125991|ENSG00000125991	ENST00000413587|ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052;ENST00000355563	.|T;T;T;T	.|0.48201	.|0.83;0.82;0.84;0.82	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Domain of unknown function DUF1692 (1);	.|0.113907	.|0.64402	.|D	.|0.000008	T|T	0.68091|0.68091	0.2963|0.2963	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.76494	.|0.662;0.999;0.999;0.973	.|P;D;D;P	.|0.77004	.|0.643;0.989;0.983;0.894	T|T	0.70916|0.70916	-0.4742|-0.4742	5|10	.|0.54805	.|T	.|0.06	-35.1468|-35.1468	14.6397|14.6397	0.68714|0.68714	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|255;270;255;260	.|B4DV36;E9PFA8;Q9Y282;Q9Y282-3	.|.;.;ERGI3_HUMAN;.	Q|N	256|255;260;270;260;118	.|ENSP00000341358:Y255N;ENSP00000349970:Y260N;ENSP00000392341:Y270N;ENSP00000279052:Y260N	.|ENSP00000279052:Y260N	L|Y	+|+	2|1	0|0	ERGIC3|ERGIC3	33607263|33607263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.881000|7.881000	0.87252|0.87252	2.091000|2.091000	0.63221|0.63221	0.460000|0.460000	0.39030|0.39030	CTA|TAT		0.587	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966		43	98	0	0	0	1	0	43	98				
CSMD1	64478	broad.mit.edu	37	8	3611520	3611520	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr8:3611520T>A	ENST00000520002.1	-	6	1418	c.863A>T	c.(862-864)aAt>aTt	p.N288I	CSMD1_ENST00000602723.1_Missense_Mutation_p.N288I|CSMD1_ENST00000400186.3_Missense_Mutation_p.N288I|CSMD1_ENST00000542608.1_Missense_Mutation_p.N288I|CSMD1_ENST00000602557.1_Missense_Mutation_p.N288I|CSMD1_ENST00000539096.1_Missense_Mutation_p.N288I|CSMD1_ENST00000537824.1_Missense_Mutation_p.N288I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	288	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCGTAGCCAATTCTTGCTACT	0.433																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(862-864)aAt>aTt		CUB and Sushi multiple domains 1							109.0	108.0	108.0					8																	3611520		1870	4104	5974	SO:0001583	missense	64478					integral to membrane		g.chr8:3611520T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.863A>T	8.37:g.3611520T>A	ENSP00000430733:p.Asn288Ile					CSMD1_ENST00000537824.1_Missense_Mutation_p.N288I|CSMD1_ENST00000539096.1_Missense_Mutation_p.N288I|CSMD1_ENST00000602723.1_Missense_Mutation_p.N288I|CSMD1_ENST00000400186.3_Missense_Mutation_p.N288I|CSMD1_ENST00000602557.1_Missense_Mutation_p.N288I|CSMD1_ENST00000542608.1_Missense_Mutation_p.N288I	p.N288I			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	6	1418	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	288			CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.863A>T		.	.	.	.	.	.	.	.	.	.	T	28.9	4.963613	0.92791	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	6.08	6.08	0.98989	.	.	.	.	.	D	0.97794	0.9276	H	0.95504	3.68	0.45634	D	0.998567	D	0.89917	1.0	D	0.91635	0.999	D	0.98897	1.0775	9	0.87932	D	0	.	16.3246	0.82970	0.0:0.0:0.0:1.0	.	288	E5RIG2	.	I	288;288;150;288;288;288	ENSP00000383047:N288I;ENSP00000430733:N288I;ENSP00000441462:N288I;ENSP00000446243:N288I;ENSP00000441675:N288I	ENSP00000320445:N150I	N	-	2	0	CSMD1	3598928	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.738000	0.84966	2.333000	0.79357	0.482000	0.46254	AAT		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	28	0	0	0	1	0	3	28				
CTDSPL2	51496	broad.mit.edu	37	15	44783110	44783110	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr15:44783110A>G	ENST00000260327.4	+	5	1167	c.604A>G	c.(604-606)Aat>Gat	p.N202D	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.N202D|CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558373.1_Intron	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	202							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AGCTTACTCAAATCAAGCAGT	0.393																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.(604-606)Aat>Gat		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							165.0	159.0	161.0					15																	44783110		2198	4298	6496	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44783110A>G	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.604A>G	15.37:g.44783110A>G	ENSP00000260327:p.Asn202Asp					CTDSPL2_ENST00000558966.1_Missense_Mutation_p.N202D|CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558373.1_Intron	p.N202D	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	5	1167	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	202					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.604A>G	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942146	0.34283	.	.	ENSG00000137770	ENST00000260327	T	0.13538	2.58	4.9	3.77	0.43336	.	0.503154	0.24115	N	0.041409	T	0.07413	0.0187	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.26677	-1.0096	10	0.15066	T	0.55	-4.7262	9.4826	0.38911	0.8496:0.0:0.1504:0.0	.	202	Q05D32	CTSL2_HUMAN	D	202	ENSP00000260327:N202D	ENSP00000260327:N202D	N	+	1	0	CTDSPL2	42570402	0.926000	0.31397	1.000000	0.80357	0.988000	0.76386	1.824000	0.39072	0.819000	0.34492	0.459000	0.35465	AAT		0.393	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		27	57	0	0	0	1	0	27	57				
PCDHA6	56142	broad.mit.edu	37	5	140209758	140209758	+	Silent	SNP	G	G	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr5:140209758G>T	ENST00000529310.1	+	1	2196	c.2082G>T	c.(2080-2082)gtG>gtT	p.V694V	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	694					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCTGGTGGATGTCAACG	0.677																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2080-2082)gtG>gtT									50.0	53.0	52.0					5																	140209758		2202	4295	6497	SO:0001819	synonymous_variant	0							g.chr5:140209758G>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2082G>T	5.37:g.140209758G>T						PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.V694V	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2196	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.2082G>T	CCDS47281.1																																																																																				0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		5	112	1	0	0.00198382	1	0.00203341	5	112				
IQSEC3	440073	broad.mit.edu	37	12	274616	274616	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr12:274616C>T	ENST00000538872.1	+	10	2844	c.2726C>T	c.(2725-2727)cCg>cTg	p.P909L	IQSEC3_ENST00000382841.2_Missense_Mutation_p.P606L|RP11-598F7.6_ENST00000537295.1_lincRNA|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.P909L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	909	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAACTTTGCCCGAAGAAGAAG	0.522																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2725-2727)cCg>cTg		IQ motif and Sec7 domain 3							179.0	169.0	172.0					12																	274616		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:274616C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2726C>T	12.37:g.274616C>T	ENSP00000437554:p.Pro909Leu					RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.P909L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.P606L	p.P909L			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	10	2844	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		909			PH.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2726C>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498460	0.64298	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.29142	1.58;1.58;1.58	4.87	4.87	0.63330	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.47673	0.1458	M	0.72894	2.215	0.80722	D	1	D;P	0.63880	0.993;0.582	P;B	0.52424	0.698;0.074	T	0.49952	-0.8884	10	0.52906	T	0.07	.	18.5623	0.91105	0.0:1.0:0.0:0.0	.	909;606	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	L	909;909;606	ENSP00000437554:P909L;ENSP00000315662:P909L;ENSP00000372292:P606L	ENSP00000315662:P909L	P	+	2	0	IQSEC3	144877	0.998000	0.40836	0.951000	0.38953	0.876000	0.50452	3.697000	0.54764	2.684000	0.91462	0.650000	0.86243	CCG		0.522	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		24	48	0	0	0	1	0	24	48				
TRANK1	9881	broad.mit.edu	37	3	36875231	36875231	+	Missense_Mutation	SNP	C	C	T	rs191082794		TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr3:36875231C>T	ENST00000429976.2	-	21	5958	c.5711G>A	c.(5710-5712)cGc>cAc	p.R1904H	TRANK1_ENST00000301807.6_Missense_Mutation_p.R1354H|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1354H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1904							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTGCTAAGCGTTTCCGAGA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19779	0.001		0.0	False		,,,				2504	0.0					ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4060-4062)cGc>cAc		tetratricopeptide repeat and ankyrin repeat containing 1							120.0	118.0	118.0					3																	36875231		1967	4157	6124	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36875231C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5711G>A	3.37:g.36875231C>T	ENSP00000416168:p.Arg1904His					TRANK1_ENST00000428977.2_Missense_Mutation_p.R1354H|TRANK1_ENST00000429976.2_Missense_Mutation_p.R1904H	p.R1354H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	5958	-			1904					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4061G>A	CCDS46789.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.33	1.319515	0.23994	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34072	1.38;1.8;1.38	5.29	5.29	0.74685	.	0.735583	0.12521	N	0.461646	T	0.37919	0.1021	L	0.32530	0.975	0.09310	N	1	D	0.59767	0.986	P	0.47528	0.549	T	0.32824	-0.9892	10	0.21540	T	0.41	.	19.3274	0.94267	0.0:1.0:0.0:0.0	.	1904	O15050	TRNK1_HUMAN	H	1354;1904;1354	ENSP00000416826:R1354H;ENSP00000416168:R1904H;ENSP00000301807:R1354H	ENSP00000301807:R1354H	R	-	2	0	TRANK1	36850235	0.668000	0.27493	0.024000	0.17045	0.349000	0.29174	3.071000	0.50041	2.648000	0.89879	0.561000	0.74099	CGC		0.517	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		13	67	0	0	0	1	0	13	67				
ACSBG1	23205	broad.mit.edu	37	15	78474320	78474320	+	Silent	SNP	G	G	A			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr15:78474320G>A	ENST00000258873.4	-	8	1267	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	ACSBG1_ENST00000541759.1_Silent_p.D112D|ACSBG1_ENST00000560817.1_Silent_p.D112D	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	354					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTTCAGGGCGTCGGGTTCGG	0.607																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1060-1062)gaC>gaT		acyl-CoA synthetase bubblegum family member 1							94.0	74.0	80.0					15																	78474320		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474320G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1062C>T	15.37:g.78474320G>A						ACSBG1_ENST00000560817.1_Silent_p.D112D|ACSBG1_ENST00000541759.1_Silent_p.D112D	p.D354D	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			8	1267	-			354					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.1062C>T	CCDS10298.1																																																																																				0.607	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		12	35	0	0	0	1	0	12	35				
IL1RAPL1	11141	broad.mit.edu	37	X	29301248	29301248	+	Silent	SNP	C	C	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chrX:29301248C>T	ENST00000378993.1	+	3	949	c.276C>T	c.(274-276)gaC>gaT	p.D92D	IL1RAPL1_ENST00000302196.4_Silent_p.D92D	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	92	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TAGCCTTTGACGGAAGTAGAA	0.448													T|||	1	0.000264901	0.0	0.0	3775	,	,		13499	0.0		0.0	False		,,,				2504	0.001					ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(274-276)gaC>gaT		interleukin 1 receptor accessory protein-like 1							121.0	103.0	109.0					X																	29301248		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29301248C>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.276C>T	X.37:g.29301248C>T						IL1RAPL1_ENST00000302196.4_Silent_p.D92D	p.D92D	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			3	949	+			92			Ig-like C2-type 1.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.276C>T	CCDS14218.1																																																																																				0.448	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		34	13	0	0	0	1	0	34	13				
TNN	63923	broad.mit.edu	37	1	175049544	175049544	+	Missense_Mutation	SNP	C	C	T	rs140077325		TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr1:175049544C>T	ENST00000239462.4	+	4	1143	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCCCACAGCATCTACTTGC	0.507																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(1030-1032)Cat>Tat		tenascin N		C	TYR/HIS	0,4406		0,0,2203	112.0	111.0	111.0		1030	5.7	1.0	1	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	missense	TNN	NM_022093.1	83	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	344/1300	175049544	2,13004	2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049544C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1030C>T	1.37:g.175049544C>T	ENSP00000239462:p.His344Tyr						p.H344Y	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	1143	+		Breast(1374;0.000962)	344			Fibronectin type-III 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1030C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	7.827	0.719042	0.15372	0.0	2.33E-4	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.52754	0.65	5.7	5.7	0.88788	Fibronectin, type III (2);	0.268520	0.43416	D	0.000570	T	0.45316	0.1336	L	0.56769	1.78	0.28293	N	0.923475	P;B	0.44195	0.828;0.124	B;B	0.39299	0.296;0.067	T	0.50742	-0.8792	10	0.35671	T	0.21	.	14.9822	0.71319	0.0:0.8577:0.1423:0.0	.	344;344	B3KXB6;Q9UQP3	.;TENN_HUMAN	Y	344	ENSP00000239462:H344Y	ENSP00000239462:H344Y	H	+	1	0	TNN	173316167	0.989000	0.36119	0.996000	0.52242	0.609000	0.37215	1.301000	0.33447	2.683000	0.91414	0.655000	0.94253	CAT		0.507	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		4	53	0	0	0	1	0	4	53				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	47	0	0	0	1	0	4	47				
FAM111B	374393	broad.mit.edu	37	11	58893556	58893556	+	Silent	SNP	T	T	C			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:58893556T>C	ENST00000343597.3	+	4	2177	c.1986T>C	c.(1984-1986)gtT>gtC	p.V662V	FAM111B_ENST00000411426.1_Silent_p.V632V|FAM111B_ENST00000529618.1_Silent_p.V632V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	662							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GCAAATTGGTTGCTTTGCATA	0.383																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1984-1986)gtT>gtC		family with sequence similarity 111, member B							135.0	121.0	126.0					11																	58893556		2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58893556T>C	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1986T>C	11.37:g.58893556T>C						FAM111B_ENST00000411426.1_Silent_p.V632V|FAM111B_ENST00000529618.1_Silent_p.V632V	p.V662V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	2177	+			662					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1986T>C	CCDS7972.1																																																																																				0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		10	96	0	0	0	1	0	10	96				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	80	0	0	0	1	0	3	80				
FUNDC2P2	388965	broad.mit.edu	37	2	84517924	84517924	+	RNA	SNP	G	G	A			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr2:84517924G>A	ENST00000331369.5	+	0	118									FUN14 domain containing 2 pseudogene 2																		GTGTGTCCTCGCAAGACTAGC	0.587																																						ENST00000331369.5																			0																																																			0							g.chr2:84517924G>A			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84517924G>A														0	118	+									RNA	SNP	ENST00000331369.5	37																																																																																						0.587	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663		5	13	0	0	0	1	0	5	13				
SOAT2	8435	broad.mit.edu	37	12	53509273	53509273	+	Silent	SNP	G	G	A	rs151267658	byFrequency	TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr12:53509273G>A	ENST00000301466.3	+	6	603	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	181					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.P181P(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TGTTGGCGCCGTACCAGGCCC	0.677													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17361	0.0		0.0	False		,,,				2504	0.0					ENST00000301466.3																			1	Substitution - coding silent(1)	p.P181P(1)	large_intestine(1)	endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(541-543)ccG>ccA		sterol O-acyltransferase 2		G		3,4403	6.2+/-15.9	0,3,2200	41.0	41.0	41.0		543	2.7	1.0	12	dbSNP_134	41	0,8600		0,0,4300	no	coding-synonymous	SOAT2	NM_003578.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		181/523	53509273	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53509273G>A	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.543G>A	12.37:g.53509273G>A							p.P181P	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			6	603	+			181					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.543G>A	CCDS8847.1																																																																																				0.677	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			21	34	0	0	0	1	0	21	34				
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	byFrequency	TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1				BMS1 pseudogene 20																		CCAGCCTTCTGTAACCCAGTA	0.428													.|||	2693	0.53774	0.6089	0.5115	5008	,	,		17865	0.4008		0.5577	False		,,,				2504	0.5808					ENST00000426066.1																			0																																																			0							g.chr22:22664639G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664639G>A								NR_027293.1						0	820	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.428	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	29	0	0	0	1	0	3	29				
CHL1	10752	broad.mit.edu	37	3	419627	419627	+	Splice_Site	SNP	T	T	C			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr3:419627T>C	ENST00000256509.2	+	16	2518		c.e16+2		CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGTTCTTGGTAAGTGCACTA	0.393																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.e16+2		cell adhesion molecule L1-like							106.0	101.0	103.0					3																	419627		2203	4300	6503	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:419627T>C	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1876+2T>C	3.37:g.419627T>C						CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Splice_Site		NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	16	2518	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)						Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000256509.2	37		CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369687	0.42003	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.951	0.79840	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	394627	1.000000	0.71417	0.989000	0.46669	0.269000	0.26545	5.558000	0.67319	2.176000	0.68965	0.533000	0.62120	.		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	Intron	3	63	0	0	0	1	0	3	63				
PACS2	23241	broad.mit.edu	37	14	105818794	105818794	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr14:105818794T>C	ENST00000325438.8	+	3	791	c.287T>C	c.(286-288)tTc>tCc	p.F96S	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000447393.1_Missense_Mutation_p.F96S|PACS2_ENST00000430725.2_Missense_Mutation_p.F29S|PACS2_ENST00000458164.2_Missense_Mutation_p.F96S			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCCCTGACCTTCTCCTTGCAG	0.607											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(286-288)tTc>tCc		phosphofurin acidic cluster sorting protein 2							203.0	165.0	178.0					14																	105818794		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818794T>C	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.287T>C	14.37:g.105818794T>C	ENSP00000321834:p.Phe96Ser		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000325438.8_Missense_Mutation_p.F96S|PACS2_ENST00000458164.2_Missense_Mutation_p.F96S|PACS2_ENST00000430725.2_Missense_Mutation_p.F29S	p.F96S	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	462	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	96					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.287T>C	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492162	0.84962	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000546915	T;T;T;T	0.43294	1.18;0.96;0.95;0.97	4.71	4.71	0.59529	.	0.000000	0.85682	U	0.000000	T	0.68393	0.2996	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	1.0;0.969;0.995;0.999	D;P;P;D	0.80764	0.99;0.891;0.856;0.994	T	0.75569	-0.3272	10	0.87932	D	0	-29.2045	13.1233	0.59340	0.0:0.0:0.0:1.0	.	96;96;96;105	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	S	29;96;96;96;29	ENSP00000393524:F29S;ENSP00000321834:F96S;ENSP00000399732:F96S;ENSP00000393559:F96S	ENSP00000321834:F96S	F	+	2	0	PACS2	104889839	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.526000	0.81920	1.970000	0.57323	0.459000	0.35465	TTC		0.607	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		17	47	0	0	0	1	0	17	47				
UTRN	7402	broad.mit.edu	37	6	144768388	144768388	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr6:144768388A>C	ENST00000367545.3	+	14	1656	c.1656A>C	c.(1654-1656)ttA>ttC	p.L552F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	552	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGAGGCTTTAAATAAAGTCC	0.363																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1654-1656)ttA>ttC		utrophin							107.0	98.0	101.0					6																	144768388		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144768388A>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1656A>C	6.37:g.144768388A>C	ENSP00000356515:p.Leu552Phe						p.L552F	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	14	1656	+		Ovarian(120;0.218)	552			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1656A>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.794200	0.70452	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.49139	0.79	5.71	3.33	0.38152	.	0.000000	0.41500	D	0.000873	T	0.44477	0.1295	M	0.71581	2.175	0.80722	D	1	D	0.56968	0.978	P	0.53861	0.736	T	0.48222	-0.9054	10	0.72032	D	0.01	.	9.0806	0.36550	0.5241:0.0:0.4759:0.0	.	552	P46939	UTRO_HUMAN	F	552	ENSP00000356515:L552F	ENSP00000356499:L552F	L	+	3	2	UTRN	144810081	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.660000	0.25009	0.425000	0.26087	0.459000	0.35465	TTA		0.363	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			14	20	0	0	0	1	0	14	20				
FCGBP	8857	broad.mit.edu	37	19	40368321	40368321	+	Missense_Mutation	SNP	G	G	A	rs146255832	byFrequency	TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr19:40368321G>A	ENST00000221347.6	-	28	13034	c.13027C>T	c.(13027-13029)Cgg>Tgg	p.R4343W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4343						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCTGTGCCCGCCAGTCTTCG	0.647																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(13027-13029)Cgg>Tgg		Fc fragment of IgG binding protein		G	TRP/ARG	0,4406		0,0,2203	115.0	123.0	120.0		13027	1.9	0.9	19	dbSNP_134	120	14,8586	7.1+/-27.0	0,14,4286	no	missense	FCGBP	NM_003890.2	101	0,14,6489	AA,AG,GG		0.1628,0.0,0.1076	probably-damaging	4343/5406	40368321	14,12992	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368321G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13027C>T	19.37:g.40368321G>A	ENSP00000221347:p.Arg4343Trp						p.R4343W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	13034	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4343					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.13027C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903927	0.33628	0.0	0.001628	ENSG00000090920	ENST00000221347	D	0.87103	-2.21	4.08	1.86	0.25419	Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	U	0.000000	D	0.95417	0.8512	H	0.98594	4.275	0.33963	D	0.645839	D	0.89917	1.0	D	0.97110	1.0	D	0.95743	0.8785	10	0.87932	D	0	.	10.2288	0.43243	0.0:0.0:0.3595:0.6405	.	4343	Q9Y6R7	FCGBP_HUMAN	W	4343	ENSP00000221347:R4343W	ENSP00000221347:R4343W	R	-	1	2	FCGBP	45060161	1.000000	0.71417	0.916000	0.36221	0.323000	0.28346	2.106000	0.41835	0.240000	0.21263	0.305000	0.20034	CGG		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	113	0	0	0	1	0	4	113				
FLRT2	23768	broad.mit.edu	37	14	86089586	86089586	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr14:86089586G>T	ENST00000330753.4	+	2	2495	c.1728G>T	c.(1726-1728)aaG>aaT	p.K576N	FLRT2_ENST00000554746.1_Missense_Mutation_p.K576N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	576					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCTCCCAGAAGTGGAAATACA	0.542																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1726-1728)aaG>aaT		fibronectin leucine rich transmembrane protein 2							75.0	82.0	80.0					14																	86089586		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089586G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1728G>T	14.37:g.86089586G>T	ENSP00000332879:p.Lys576Asn					FLRT2_ENST00000554746.1_Missense_Mutation_p.K576N	p.K576N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2495	+			576					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1728G>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289780	0.10567	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.55930	0.49;0.49	6.17	5.28	0.74379	.	0.054577	0.64402	D	0.000001	T	0.44159	0.1280	N	0.16368	0.405	0.58432	D	0.999992	D	0.58620	0.983	P	0.50314	0.637	T	0.28267	-1.0049	10	0.11182	T	0.66	-24.028	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	576	O43155	FLRT2_HUMAN	N	576;576;229	ENSP00000332879:K576N;ENSP00000451050:K576N	ENSP00000332879:K576N	K	+	3	2	FLRT2	85159339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.690000	0.54713	1.621000	0.50320	0.655000	0.94253	AAG		0.542	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	100	1	0	0.150653	1	0.150653	4	100				
RGPD4	285190	broad.mit.edu	37	2	108487522	108487522	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr2:108487522T>C	ENST00000408999.3	+	20	3139	c.3062T>C	c.(3061-3063)tTt>tCt	p.F1021S	RGPD4_ENST00000354986.4_Missense_Mutation_p.F1021S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1021					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCCGGTGACTTTGAGAAAGAT	0.383																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3061-3063)tTt>tCt		RANBP2-like and GRIP domain containing 4							1.0	2.0	2.0					2																	108487522		274	800	1074	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487522T>C	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3062T>C	2.37:g.108487522T>C	ENSP00000386810:p.Phe1021Ser					RGPD4_ENST00000354986.4_Missense_Mutation_p.F1021S	p.F1021S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3139	+			1021					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3062T>C	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.654173	0.00109	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.36699	1.24;1.24	2.33	2.33	0.28932	.	.	.	.	.	T	0.13970	0.0338	N	0.04508	-0.205	0.19775	N	0.999958	B	0.09022	0.002	B	0.11329	0.006	T	0.32025	-0.9922	9	0.09338	T	0.73	-5.5626	5.5644	0.17163	0.2456:0.0:0.0:0.7544	.	1021	Q7Z3J3	RGPD4_HUMAN	S	1021;1021;779	ENSP00000347081:F1021S;ENSP00000386810:F1021S	ENSP00000347081:F1021S	F	+	2	0	RGPD4	107853954	0.117000	0.22190	0.611000	0.29010	0.346000	0.29079	1.937000	0.40193	1.072000	0.40860	0.136000	0.15936	TTT		0.383	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		4	264	0	0	0	1	0	4	264				
OR51E2	81285	broad.mit.edu	37	11	4703754	4703754	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:4703754C>T	ENST00000396950.3	-	2	427	c.188G>A	c.(187-189)tGc>tAc	p.C63Y		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	63					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGCAAGCATGCAGAGAAAGAG	0.502																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(187-189)tGc>tAc		olfactory receptor, family 51, subfamily E, member 2							112.0	93.0	100.0					11																	4703754		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703754C>T	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.188G>A	11.37:g.4703754C>T	ENSP00000380153:p.Cys63Tyr						p.C63Y	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	427	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	63					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.188G>A	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385159	0.61956	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.00551	7.59;6.65	5.0	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.01353	0.0044	M	0.75777	2.31	0.40746	D	0.982874	D	0.61697	0.99	P	0.57679	0.825	T	0.61850	-0.6978	10	0.87932	D	0	.	7.226	0.26016	0.0:0.5788:0.3334:0.0878	.	63	Q9H255	O51E2_HUMAN	Y	63	ENSP00000380153:C63Y;ENSP00000432644:C63Y	ENSP00000380153:C63Y	C	-	2	0	OR51E2	4660330	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.049000	0.30392	1.298000	0.44778	0.655000	0.94253	TGC		0.502	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		3	45	0	0	0	1	0	3	45				
PSORS1C1	170679	broad.mit.edu	37	6	31084574	31084574	+	Intron	SNP	C	C	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr6:31084574C>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Missense_Mutation_p.C273Y	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						ACCATTGCTACAGGGGGGACC	0.602																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(817-819)tGt>tAt		corneodesmosin							33.0	32.0	32.0					6																	31084574		2098	4153	6251	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084574C>T	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1906C>T	6.37:g.31084574C>T						PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	p.C273Y	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	844	-			273			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	c.818G>A	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157978	0.38119	.	.	ENSG00000204539	ENST00000376288	T	0.15017	2.46	4.23	4.23	0.50019	.	0.000000	0.56097	D	0.000034	T	0.20129	0.0484	L	0.36672	1.1	0.33835	D	0.630677	D	0.76494	0.999	D	0.83275	0.996	T	0.01706	-1.1291	10	0.87932	D	0	-19.5842	11.9574	0.52988	0.0:1.0:0.0:0.0	.	273	Q15517	CDSN_HUMAN	Y	273	ENSP00000365465:C273Y	ENSP00000365465:C273Y	C	-	2	0	CDSN	31192553	0.982000	0.34865	0.981000	0.43875	0.261000	0.26267	3.333000	0.52090	2.192000	0.70111	0.549000	0.68633	TGT		0.602	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		11	31	0	0	0	1	0	11	31				
SASH1	23328	broad.mit.edu	37	6	148865535	148865535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr6:148865535C>T	ENST00000367467.3	+	18	3404	c.2929C>T	c.(2929-2931)Cag>Tag	p.Q977*		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	977					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCAGAGAATGCAGCCCAAAAT	0.567																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2929-2931)Cag>Tag		SAM and SH3 domain containing 1							74.0	78.0	77.0					6																	148865535		2203	4300	6503	SO:0001587	stop_gained	23328						protein binding	g.chr6:148865535C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2929C>T	6.37:g.148865535C>T	ENSP00000356437:p.Gln977*						p.Q977*	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3404	+		Ovarian(120;0.0169)	977					Q5TGN5|Q8TAI0|Q9H7R7	Nonsense_Mutation	SNP	ENST00000367467.3	37	c.2929C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	45	11.528449	0.99572	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	.	.	.	5.06	5.06	0.68205	.	0.105923	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.4415	18.4263	0.90610	0.0:1.0:0.0:0.0	.	.	.	.	X	977;387	.	ENSP00000356437:Q977X	Q	+	1	0	SASH1	148907228	1.000000	0.71417	0.004000	0.12327	0.964000	0.63967	5.247000	0.65416	2.362000	0.80069	0.650000	0.86243	CAG		0.567	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		4	63	0	0	0	1	0	4	63				
USE1	55850	broad.mit.edu	37	19	17330466	17330466	+	Silent	SNP	G	G	A	rs146606083	byFrequency	TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr19:17330466G>A	ENST00000263897.5	+	8	671	c.624G>A	c.(622-624)gcG>gcA	p.A208A	USE1_ENST00000379776.4_3'UTR|USE1_ENST00000596136.1_3'UTR|USE1_ENST00000445667.2_Silent_p.A208A	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	208					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						TGAAAATGGCGGACCAGAACC	0.562													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17646	0.0		0.0	False		,,,				2504	0.0					ENST00000445667.2																			0				breast(2)|endometrium(1)|lung(3)	6						c.(622-624)gcG>gcA		unconventional SNARE in the ER 1 homolog (S. cerevisiae)							71.0	77.0	75.0					19																	17330466		2202	4300	6502	SO:0001819	synonymous_variant	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17330466G>A	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.624G>A	19.37:g.17330466G>A						USE1_ENST00000596136.1_3'UTR|USE1_ENST00000263897.5_Silent_p.A208A|USE1_ENST00000379776.4_3'UTR	p.A208A			Q9NZ43	USE1_HUMAN			8	684	+			208					Q8NCK1|Q9BRT4	Silent	SNP	ENST00000263897.5	37	c.624G>A	CCDS46011.1																																																																																				0.562	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467		10	27	0	0	0	1	0	10	27				
EBNA1BP2	10969	broad.mit.edu	37	1	43630134	43630136	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr1:43630134_43630136delTCT	ENST00000236051.2	-	9	1040_1042	c.899_901delAGA	c.(898-903)aagatg>atg	p.K300del	EBNA1BP2_ENST00000431635.2_In_Frame_Del_p.K355del	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	300					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTTCTTCATCTTCTCTCTTGT	0.424																																						ENST00000431635.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(1063-1068)atg>a		EBNA1 binding protein 2																																				SO:0001651	inframe_deletion	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43630134_43630136delTCT	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.899_901delAGA	1.37:g.43630137_43630139delTCT	ENSP00000236051:p.Lys300del					EBNA1BP2_ENST00000236051.2_In_Frame_Del_p.KM300del	p.KM355del	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN			10	1212_1214	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	300					Q96A66	In_Frame_Del	DEL	ENST00000236051.2	37	c.1064_1066delAGA	CCDS478.1																																																																																				0.424	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			32	50						32	50	---	---	---	---
SLC26A1	10861	broad.mit.edu	37	4	983352	983352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr4:983352delC	ENST00000361661.2	-	4	1752	c.1375delG	c.(1375-1377)gacfs	p.D459fs	SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000398516.2_Frame_Shift_Del_p.D459fs|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	459				DL -> GF (in Ref. 1; AAG22075). {ECO:0000305}.	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCGGGAGGTCCCACACCTTG	0.716																																						ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(1375-1377)acfs		solute carrier family 26 (anion exchanger), member 1							7.0	8.0	8.0					4																	983352		2118	4170	6288	SO:0001589	frameshift_variant	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:983352delC	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1375delG	4.37:g.983352delC	ENSP00000354721:p.Asp459fs					SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398516.2_Frame_Shift_Del_p.D459fs	p.D459fs	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	1752	-			459	DL -> GF (in Ref. 1; AAG22075).				A8K9N2|Q7Z5R3|Q96BK0	Frame_Shift_Del	DEL	ENST00000361661.2	37	c.1375delG	CCDS33934.1																																																																																				0.716	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		2	4						2	4	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308		TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr16:32077916_32077917insTTT	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		ATGGAAAACGGTTATTTTTTTG	0.421																																						ENST00000566806.1																			0																																																			0							g.chr16:32077916_32077917insTTT	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077916_32077917insTTT														0	499	-									RNA	INS	ENST00000354689.6	37																																																																																						0.421	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			2	4						2	4	---	---	---	---
FIRRE	286467	broad.mit.edu	37	X	130929881	130929881	+	lincRNA	DEL	C	C	-			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chrX:130929881delC	ENST00000427391.1	-	0	1040					NR_026975.1																						TCCTTGTGGGCCAGTGTGTAG	0.647																																						ENST00000427391.1																			0																																																			0							g.chrX:130929881delC																													X.37:g.130929881delC								NR_026975.1						0	1040	-									RNA	DEL	ENST00000427391.1	37																																																																																						0.647	RP11-453F18__B.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058303.1			2	4						2	4	---	---	---	---
