#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
GABRB3	2562	broad.mit.edu	37	15	26806094	26806094	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:26806094C>G	ENST00000311550.5	-	8	1176	c.1065G>C	c.(1063-1065)aaG>aaC	p.K355N	GABRB3_ENST00000299267.4_Missense_Mutation_p.K355N|GABRB3_ENST00000545868.1_Missense_Mutation_p.K270N|GABRB3_ENST00000541819.2_Missense_Mutation_p.K411N|GABRB3_ENST00000400188.3_Missense_Mutation_p.K284N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	355					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTTTCGCTCTTTGAACGGT	0.473																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1231-1233)aaG>aaC		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						247.0	266.0	259.0					15																	26806094		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806094C>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1065G>C	15.37:g.26806094C>G	ENSP00000308725:p.Lys355Asn					GABRB3_ENST00000545868.1_Missense_Mutation_p.K270N|GABRB3_ENST00000299267.4_Missense_Mutation_p.K355N|GABRB3_ENST00000311550.5_Missense_Mutation_p.K355N|GABRB3_ENST00000400188.3_Missense_Mutation_p.K284N	p.K411N			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1335	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	355					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1233G>C	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491569	0.26774	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.19	1.84	0.25277	Neurotransmitter-gated ion-channel transmembrane domain (2);	38.769200	0.00166	N	0.000000	D	0.83175	0.5197	M	0.64404	1.975	0.20563	N	0.999882	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.12156	0.007;0.005;0.003	T	0.58907	-0.7553	10	0.21540	T	0.41	.	7.8462	0.29426	0.0:0.6015:0.0:0.3985	.	411;355;355	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	355;411;355;284;270	ENSP00000308725:K355N;ENSP00000442408:K411N;ENSP00000299267:K355N;ENSP00000383049:K284N;ENSP00000439169:K270N	ENSP00000299267:K355N	K	-	3	2	GABRB3	24357187	0.979000	0.34478	0.450000	0.26969	0.886000	0.51366	1.027000	0.30115	0.570000	0.29347	0.655000	0.94253	AAG		0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			3	178	0	0	0	1	0	3	178				
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060	byFrequency	TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.H100R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.H236R(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373																																						ENST00000217244.3																			2	Substitution - Missense(2)	p.H236R(2)	lung(1)|central_nervous_system(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(706-708)cAt>cGt		casein kinase 2, alpha 1 polypeptide							94.0	83.0	87.0					20																	470440		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470440T>C	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.707A>G	20.37:g.470440T>C	ENSP00000217244:p.His236Arg					CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R	p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1082	-		Breast(17;0.231)	236			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.707A>G	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018985	0.54576	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096383	0.85682	D	0.000000	T	0.35566	0.0936	N	0.01640	-0.785	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.27088	-1.0084	10	0.40728	T	0.16	-5.9305	14.2644	0.66107	0.0:0.0:0.0:1.0	.	236	P68400	CSK21_HUMAN	R	236;236;236;236;100	ENSP00000383086:H236R;ENSP00000339247:H236R;ENSP00000217244:H236R;ENSP00000383076:H100R	ENSP00000217244:H236R	H	-	2	0	CSNK2A1	418440	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.791000	0.85805	2.213000	0.71641	0.477000	0.44152	CAT		0.373	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		3	56	0	0	0	1	0	3	56				
TJP1	7082	broad.mit.edu	37	15	30001016	30001016	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:30001016T>C	ENST00000346128.6	-	25	5071	c.4597A>G	c.(4597-4599)Aca>Gca	p.T1533A	TJP1_ENST00000356107.6_Missense_Mutation_p.T1533A|TJP1_ENST00000545208.2_Missense_Mutation_p.T1453A|TJP1_ENST00000400011.2_Missense_Mutation_p.T1457A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1533					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAGAACTTGTATATGGTTTT	0.403																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4597-4599)Aca>Gca		tight junction protein 1							307.0	285.0	292.0					15																	30001016		1919	4143	6062	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30001016T>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4597A>G	15.37:g.30001016T>C	ENSP00000281537:p.Thr1533Ala					TJP1_ENST00000545208.2_Missense_Mutation_p.T1453A|TJP1_ENST00000400011.2_Missense_Mutation_p.T1457A|TJP1_ENST00000356107.6_Missense_Mutation_p.T1533A	p.T1533A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	25	5071	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1533					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4597A>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097789	0.76870	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.60548	0.18;0.18	5.65	4.5	0.54988	.	0.048578	0.85682	D	0.000000	T	0.57373	0.2049	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.49090	0.919;0.875;0.864;0.875	P;P;P;P	0.45037	0.452;0.467;0.452;0.467	T	0.61686	-0.7012	10	0.72032	D	0.01	.	12.0253	0.53367	0.1294:0.0:0.0:0.8706	.	1526;1453;1533;1457	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	1533;1457;1533;1453;1453	ENSP00000281537:T1533A;ENSP00000382890:T1457A	ENSP00000281537:T1533A	T	-	1	0	TJP1	27788308	1.000000	0.71417	0.138000	0.22173	0.979000	0.70002	7.525000	0.81892	1.113000	0.41760	0.533000	0.62120	ACA		0.403	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		5	305	0	0	0	1	0	5	305				
C1orf210	149466	broad.mit.edu	37	1	43748745	43748745	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:43748745G>A	ENST00000523677.1	-	3	286	c.53C>T	c.(52-54)tCt>tTt	p.S18F	C1orf210_ENST00000423420.1_Missense_Mutation_p.S18F	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	18						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCCACAGCAGACGCTGTGGG	0.627																																						ENST00000523677.1																			0				breast(1)	1						c.(52-54)tCt>tTt		chromosome 1 open reading frame 210							27.0	29.0	29.0					1																	43748745		2203	4300	6503	SO:0001583	missense	149466					integral to membrane		g.chr1:43748745G>A	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.53C>T	1.37:g.43748745G>A	ENSP00000430918:p.Ser18Phe					C1orf210_ENST00000423420.1_Missense_Mutation_p.S18F	p.S18F	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN			3	286	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	18					D3DPX2	Missense_Mutation	SNP	ENST00000523677.1	37	c.53C>T	CCDS481.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646650	0.67358	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	T;T	0.49139	0.79;0.79	4.96	4.96	0.65561	.	1.099970	0.06888	N	0.803735	T	0.67739	0.2925	M	0.70595	2.14	0.09310	N	1	D	0.55385	0.971	P	0.58454	0.839	T	0.59144	-0.7509	10	0.72032	D	0.01	.	15.5093	0.75766	0.0:0.0:1.0:0.0	.	18	Q8IVY1	CA210_HUMAN	F	18	ENSP00000430918:S18F;ENSP00000429399:S18F	ENSP00000429399:S18F	S	-	2	0	C1orf210	43521332	0.119000	0.22226	0.025000	0.17156	0.114000	0.19823	2.530000	0.45641	2.580000	0.87095	0.561000	0.74099	TCT		0.627	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019035.2	NM_182517		5	21	0	0	0	1	0	5	21				
SIRPD	128646	broad.mit.edu	37	20	1532407	1532407	+	Nonsense_Mutation	SNP	G	G	T	rs376805676		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr20:1532407G>T	ENST00000381623.3	-	2	1540	c.351C>A	c.(349-351)tgC>tgA	p.C117*	SIRPD_ENST00000381621.1_Nonsense_Mutation_p.C117*			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	117	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGAACTTCACGCAGTAATAGG	0.493																																						ENST00000381623.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						c.(349-351)tgC>tgA		signal-regulatory protein delta							150.0	144.0	146.0					20																	1532407		2203	4300	6503	SO:0001587	stop_gained	128646					extracellular region		g.chr20:1532407G>T	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.351C>A	20.37:g.1532407G>T	ENSP00000371036:p.Cys117*					SIRPD_ENST00000381621.1_Nonsense_Mutation_p.C117*	p.C117*			Q9H106	SIRPD_HUMAN			2	1540	-			117			Ig-like V-type.		B3KS88|Q5TFQ6	Nonsense_Mutation	SNP	ENST00000381623.3	37	c.351C>A	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762526	0.31228	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	.	.	.	3.69	-4.1	0.03940	.	0.000000	0.43110	U	0.000601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7681	0.40574	0.7489:0.0:0.2511:0.0	.	.	.	.	X	117	.	ENSP00000371034:C117X	C	-	3	2	SIRPD	1480407	0.973000	0.33851	0.286000	0.24833	0.158000	0.22134	-0.148000	0.10219	-1.318000	0.02289	-0.966000	0.02617	TGC		0.493	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		3	98	1	0	1	1	1	3	98				
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	64								p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I64T(4)	urinary_tract(2)|prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(190-192)aTt>aCt																																						SO:0001583	missense	0							g.chr20:29625947T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.191T>C	20.37:g.29625947T>C	ENSP00000278882:p.Ile64Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T	p.I64T							5	571	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.191T>C		.	.	.	.	.	.	.	.	.	.	t	11.16	1.557441	0.27827	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53640	0.61	1.68	1.68	0.24146	.	0.048324	0.85682	N	0.000000	T	0.39279	0.1072	.	.	.	0.50313	D	0.999869	B	0.11235	0.004	B	0.30943	0.122	T	0.37549	-0.9701	9	0.62326	D	0.03	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	69	F5H5R5	.	T	64;69;64	ENSP00000408863:I69T	ENSP00000278882:I64T	I	+	2	0	FRG1B	28239608	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	ATT		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	64	0	0	0	1	0	5	64				
CD209	30835	broad.mit.edu	37	19	7810698	7810698	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:7810698A>G	ENST00000315599.7	-	4	476	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R	CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.W152R|CD209_ENST00000593821.1_Missense_Mutation_p.W108R|CD209_ENST00000301357.8_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.W128R|CD209_ENST00000204801.8_Missense_Mutation_p.W108R|CD209_ENST00000315591.8_Missense_Mutation_p.W128R|CD209_ENST00000601256.1_Missense_Mutation_p.W128R|CD209_ENST00000593660.1_Missense_Mutation_p.W128R|CD209_ENST00000602261.1_Missense_Mutation_p.W152R|CD209_ENST00000394173.4_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	152	7 X approximate tandem repeats.			W -> Q (in Ref. 4; AAK91848). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.W152R(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCAGGTCAGCTCC	0.557																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.W152R(4)	skin(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(454-456)Tgg>Cgg		CD209 molecule							116.0	114.0	115.0					19																	7810698		2200	4298	6498	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810698A>G	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.454T>C	19.37:g.7810698A>G	ENSP00000315477:p.Trp152Arg					CD209_ENST00000204801.8_Missense_Mutation_p.W108R|CD209_ENST00000602261.1_Missense_Mutation_p.W152R|CD209_ENST00000301357.8_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.W108R|CD209_ENST00000593660.1_Missense_Mutation_p.W128R|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.W128R|CD209_ENST00000354397.6_Missense_Mutation_p.W152R|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.W128R|CD209_ENST00000315591.8_Missense_Mutation_p.W128R	p.W152R	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	476	-			152			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.454T>C	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.702335	0.00097	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000540789	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	1.11	-1.88	0.07713	.	.	.	.	.	T	0.03434	0.0099	N	0.00128	-2.045	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.0;0.001;0.001;0.0;0.0;0.0;0.002	T	0.40979	-0.9534	9	0.18276	T	0.48	.	5.8395	0.18625	0.6612:0.0:0.3388:0.0	.	152;128;108;128;152;152;128;128;152	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;CD209_HUMAN;.;.;.	R	152;152;128;108;152;136	ENSP00000315477:W152R;ENSP00000346373:W152R;ENSP00000315407:W128R;ENSP00000204801:W108R	ENSP00000204801:W108R	W	-	1	0	CD209	7716698	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.109000	0.03309	-1.261000	0.02462	-0.386000	0.06593	TGG		0.557	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		4	176	0	0	0	1	0	4	176				
PLEKHG2	64857	broad.mit.edu	37	19	39913841	39913841	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:39913841G>A	ENST00000409794.3	+	18	2997	c.2147G>A	c.(2146-2148)aGc>aAc	p.S716N	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S657N|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.S687N|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	716					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTTCTGGGAGCAATCCTGGG	0.592																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(2059-2061)aGc>aAc		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							64.0	74.0	70.0					19																	39913841		2203	4299	6502	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913841G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2147G>A	19.37:g.39913841G>A	ENSP00000386733:p.Ser716Asn					PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S716N|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S657N	p.S687N			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		16	2385	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		716					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.2060G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.691|4.691	0.128497|0.128497	0.08981|0.08981	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;T;T	.|0.71579	.|-0.44;-0.49;-0.58	5.13|5.13	-2.55|-2.55	0.06288|0.06288	.|.	.|0.812659	.|0.11000	.|N	.|0.610544	T|T	0.52108|0.52108	0.1714|0.1714	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.09022	.|0.002;0.001;0.002	.|B;B;B	.|0.08055	.|0.003;0.002;0.002	T|T	0.45205|0.45205	-0.9277|-0.9277	5|10	.|0.72032	.|D	.|0.01	.|.	5.154|5.154	0.15025|0.15025	0.4672:0.1499:0.3828:0.0|0.4672:0.1499:0.3828:0.0	.|.	.|687;716;657	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	T|N	584|716;687;657	.|ENSP00000386733:S716N;ENSP00000392906:S687N;ENSP00000408857:S657N	.|ENSP00000386733:S716N	A|S	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44605681|44605681	0.012000|0.012000	0.17670|0.17670	0.000000|0.000000	0.03702|0.03702	0.081000|0.081000	0.17604|0.17604	0.050000|0.050000	0.14120|0.14120	-0.166000|-0.166000	0.10890|0.10890	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.592	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		3	88	0	0	0	1	0	3	88				
CNGA1	1259	broad.mit.edu	37	4	47939187	47939187	+	Missense_Mutation	SNP	A	A	G	rs200583020		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr4:47939187A>G	ENST00000514170.1	-	11	1643	c.1324T>C	c.(1324-1326)Tgg>Cgg	p.W442R	CNGA1_ENST00000544810.1_Missense_Mutation_p.W442R|CNGA1_ENST00000420489.2_Missense_Mutation_p.W442R|CNGA1_ENST00000402813.3_Missense_Mutation_p.W511R|CNGA1_ENST00000358519.4_Missense_Mutation_p.W442R			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	442					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTGTTGGTCCACAGGTAGTCA	0.328																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1531-1533)Tgg>Cgg		cyclic nucleotide gated channel alpha 1							142.0	135.0	137.0					4																	47939187		1858	4092	5950	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939187A>G	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1324T>C	4.37:g.47939187A>G	ENSP00000426862:p.Trp442Arg					CNGA1_ENST00000358519.4_Missense_Mutation_p.W442R|CNGA1_ENST00000420489.2_Missense_Mutation_p.W442R|CNGA1_ENST00000544810.1_Missense_Mutation_p.W442R|CNGA1_ENST00000514170.1_Missense_Mutation_p.W442R	p.W511R			P29973	CNGA1_HUMAN			10	1673	-			442					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1531T>C	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.626584	0.46840	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24	5.22	5.22	0.72569	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.93763	3.455	0.58432	D	0.999999	D;D	0.54964	0.969;0.969	P;P	0.51297	0.665;0.665	D	0.98911	1.0780	10	0.66056	D	0.02	.	15.1249	0.72475	1.0:0.0:0.0:0.0	.	442;442	Q4W5E3;P29973	.;CNGA1_HUMAN	R	511;442;442;442;442	ENSP00000384264:W511R;ENSP00000426862:W442R;ENSP00000443401:W442R;ENSP00000351320:W442R;ENSP00000389881:W442R	ENSP00000351320:W442R	W	-	1	0	CNGA1	47633944	1.000000	0.71417	0.994000	0.49952	0.812000	0.45895	8.962000	0.93254	1.971000	0.57363	0.402000	0.26972	TGG		0.328	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		5	122	0	0	0	1	0	5	122				
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	lincRNA	SNP	T	T	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343																																						ENST00000423385.1																			0																																																			0							g.chr1:142803480T>C																													1.37:g.142803480T>C														0	1485	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.343	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			7	39	0	0	0	1	0	7	39				
KCNK10	54207	broad.mit.edu	37	14	88658695	88658695	+	Silent	SNP	G	G	A	rs199739180		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr14:88658695G>A	ENST00000340700.5	-	5	1177	c.726C>T	c.(724-726)gcC>gcT	p.A242A	KCNK10_ENST00000312350.5_Silent_p.A247A|KCNK10_ENST00000319231.5_Silent_p.A247A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	242					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CAATGCAGCCGGCCAAGATGA	0.498																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(724-726)gcC>gcT		potassium channel, subfamily K, member 10		G	,,	0,4406		0,0,2203	197.0	178.0	185.0		726,741,741	-2.8	1.0	14		185	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	242/539,247/544,247/544	88658695	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658695G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.726C>T	14.37:g.88658695G>A						KCNK10_ENST00000319231.5_Silent_p.A247A|KCNK10_ENST00000312350.5_Silent_p.A247A	p.A242A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			5	1177	-			242					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.726C>T	CCDS9880.1																																																																																				0.498	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		10	293	0	0	0	1	0	10	293				
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T	rs199744032		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr12:49724313G>T	ENST00000257909.3	+	13	1761	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000551245.1_Missense_Mutation_p.S562I	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.S562I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592																																						ENST00000551245.1																			1	Substitution - Missense(1)	p.S562I(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(1684-1686)aGt>aTt		trophinin associated protein		G	ILE/SER	1,4405		0,1,2202	69.0	67.0	68.0		1685	-1.1	0.0	12		68	0,8600		0,0,4300	no	missense	TROAP	NM_005480.3	142	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	562/779	49724313	1,13005	2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724313G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1685G>T	12.37:g.49724313G>T	ENSP00000257909:p.Ser562Ile					TROAP_ENST00000257909.3_Missense_Mutation_p.S562I|TROAP_ENST00000547923.1_Missense_Mutation_p.S270I	p.S562I			Q12815	TROAP_HUMAN			13	1796	+			562			4 X 33 AA approximate tandem repeats.|Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1685G>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880628	0.33255	2.27E-4	0.0	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.47	-1.09	0.09904	.	.	.	.	.	T	0.15652	0.0377	N	0.22421	0.69	0.09310	N	1	B;B;P	0.35982	0.001;0.001;0.531	B;B;B	0.34779	0.002;0.002;0.189	T	0.14671	-1.0464	8	0.51188	T	0.08	.	1.3245	0.02123	0.2218:0.1838:0.4332:0.1612	.	562;270;562	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	I	562;562;270	.	ENSP00000257909:S562I	S	+	2	0	TROAP	48010580	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.031000	0.13710	-0.625000	0.05604	0.313000	0.20887	AGT		0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		7	67	1	0	2.7689e-08	1	3.23038e-08	7	67				
DNMT3A	1788	broad.mit.edu	37	2	25497865	25497865	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr2:25497865G>A	ENST00000264709.3	-	6	921	c.584C>T	c.(583-585)cCc>cTc	p.P195L	DNMT3A_ENST00000321117.5_Missense_Mutation_p.P195L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	195					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTAGTAGGGGTCCCCCGC	0.701			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(583-585)cCc>cTc		DNA (cytosine-5-)-methyltransferase 3 alpha							39.0	37.0	38.0					2																	25497865		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25497865G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.584C>T	2.37:g.25497865G>A	ENSP00000264709:p.Pro195Leu					DNMT3A_ENST00000321117.5_Missense_Mutation_p.P195L	p.P195L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			6	921	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		195					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.584C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616222	0.66672	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	D;D	0.94330	-3.4;-3.4	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000002	D	0.90758	0.7099	N	0.24115	0.695	0.80722	D	1	P	0.51791	0.948	P	0.48189	0.57	D	0.92179	0.5750	10	0.66056	D	0.02	-8.2269	16.3295	0.83004	0.0:0.0:1.0:0.0	.	195	Q9Y6K1	DNM3A_HUMAN	L	195	ENSP00000324375:P195L;ENSP00000264709:P195L	ENSP00000264709:P195L	P	-	2	0	DNMT3A	25351369	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.004000	0.93583	2.448000	0.82819	0.561000	0.74099	CCC		0.701	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		8	16	0	0	0	1	0	8	16				
CNTLN	54875	broad.mit.edu	37	9	17236415	17236415	+	Silent	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr9:17236415G>A	ENST00000380647.3	+	5	762	c.678G>A	c.(676-678)aaG>aaA	p.K226K	CNTLN_ENST00000380641.4_Silent_p.K226K|CNTLN_ENST00000262360.5_Silent_p.K226K|CNTLN_ENST00000425824.1_Silent_p.K226K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	226					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGACACTAAGGAGTGTGTAC	0.368																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(676-678)aaG>aaA		centlein, centrosomal protein							83.0	83.0	83.0					9																	17236415		1821	4081	5902	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17236415G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.678G>A	9.37:g.17236415G>A						CNTLN_ENST00000425824.1_Silent_p.K226K|CNTLN_ENST00000380641.4_Silent_p.K226K|CNTLN_ENST00000262360.5_Silent_p.K226K	p.K226K			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	5	762	+			226					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.678G>A	CCDS43789.1																																																																																				0.368	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		11	45	0	0	0	1	0	11	45				
LHX5	64211	broad.mit.edu	37	12	113907149	113907149	+	Splice_Site	SNP	G	G	T	rs202027707		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr12:113907149G>T	ENST00000261731.3	-	2	748	c.175C>A	c.(175-177)Cgc>Agc	p.R59S	LHX5_ENST00000557836.1_5'Flank|RP11-82C23.2_ENST00000551357.2_RNA	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	59	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GTGCCAAAGCGCCTGTGGACA	0.632																																						ENST00000261731.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.e2-1		LIM homeobox 5							49.0	46.0	47.0					12																	113907149		2203	4299	6502	SO:0001630	splice_region_variant	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113907149G>T	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.174-1C>A	12.37:g.113907149G>T							p.R59_splice	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN			2	748	-			59			LIM zinc-binding 1.		Q32MA4	Splice_Site	SNP	ENST00000261731.3	37	c.173_splice	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675602	0.67928	.	.	ENSG00000089116	ENST00000261731	D	0.87256	-2.23	5.16	5.16	0.70880	Zinc finger, LIM-type (3);	0.000000	0.49305	D	0.000144	D	0.88340	0.6410	M	0.85777	2.775	0.80722	D	1	P	0.36753	0.568	B	0.38428	0.273	D	0.89347	0.3658	10	0.66056	D	0.02	.	11.7601	0.51898	0.0:0.0:0.7036:0.2964	.	59	Q9H2C1	LHX5_HUMAN	S	59	ENSP00000261731:R59S	ENSP00000261731:R59S	R	-	1	0	LHX5	112391532	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.082000	0.50128	2.420000	0.82092	0.561000	0.74099	CGC		0.632	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363	Missense_Mutation	5	60	1	0	0.0293803	1	0.032473	5	60				
PLA2G4F	255189	broad.mit.edu	37	15	42434347	42434347	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:42434347C>A	ENST00000382396.4	-	20	2471	c.2385G>T	c.(2383-2385)agG>agT	p.R795S	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R797S			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	795	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGGTGTCTGGCCTGTTGATGA	0.567																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2389-2391)agG>agT		phospholipase A2, group IVF							89.0	78.0	82.0					15																	42434347		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42434347C>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2385G>T	15.37:g.42434347C>A	ENSP00000371833:p.Arg795Ser					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R795S	p.R797S	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	20	2482	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	795			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.2391G>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	7.499	0.652361	0.14580	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.03920	3.76;3.76	5.21	1.97	0.26223	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.517766	0.18900	N	0.128068	T	0.01592	0.0051	N	0.02247	-0.625	0.19575	N	0.999962	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.47861	-0.9084	10	0.11485	T	0.65	-19.536	4.0488	0.09785	0.0:0.3291:0.2593:0.4116	.	582;797;795	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	S	791;797;795;795	ENSP00000380442:R797S;ENSP00000371833:R795S	ENSP00000290497:R791S	R	-	3	2	PLA2G4F	40221639	0.001000	0.12720	0.934000	0.37439	0.338000	0.28826	-0.394000	0.07296	0.714000	0.32081	0.655000	0.94253	AGG		0.567	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		3	64	1	0	1	1	1	3	64				
SLC26A8	116369	broad.mit.edu	37	6	35923195	35923195	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr6:35923195C>G	ENST00000490799.1	-	17	2319	c.1966G>C	c.(1966-1968)Gca>Cca	p.A656P	SLC26A8_ENST00000394602.2_Missense_Mutation_p.A551P|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A656P	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTCGGATGCAGTTTGGCTT	0.443																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1966-1968)Gca>Cca		solute carrier family 26 (anion exchanger), member 8							256.0	240.0	245.0					6																	35923195		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923195C>G	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1966G>C	6.37:g.35923195C>G	ENSP00000417638:p.Ala656Pro					SLC26A8_ENST00000394602.2_Missense_Mutation_p.A551P|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A656P	p.A656P	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			17	2319	-			656			STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.1966G>C	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	1.806	-0.475827	0.04414	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94931	-3.24;-3.56;-3.24	5.01	-10.0	0.00425	Sulphate transporter/antisigma-factor antagonist STAS (3);	3.870550	0.00682	N	0.000687	T	0.69833	0.3155	N	0.19112	0.55	0.09310	N	1	B;B;P	0.34757	0.301;0.446;0.467	B;B;B	0.33799	0.089;0.17;0.154	T	0.67673	-0.5610	10	0.30854	T	0.27	.	4.8689	0.13622	0.3629:0.3926:0.069:0.1755	.	656;551;238	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	P	656;551;656	ENSP00000417638:A656P;ENSP00000378100:A551P;ENSP00000347778:A656P	ENSP00000347778:A656P	A	-	1	0	SLC26A8	36031173	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.799000	0.00762	-6.264000	0.00005	-2.850000	0.00103	GCA		0.443	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			49	75	0	0	0	1	0	49	75				
CCDC174	51244	broad.mit.edu	37	3	14706561	14706561	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr3:14706561G>A	ENST00000383794.3	+	6	585	c.512G>A	c.(511-513)cGt>cAt	p.R171H	CCDC174_ENST00000303688.7_Missense_Mutation_p.R171H	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	171						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCTTTGGGGCGTTCCCGGCGC	0.473																																						ENST00000383794.3																			0											c.(511-513)cGt>cAt		coiled-coil domain containing 174							169.0	163.0	165.0					3																	14706561		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14706561G>A	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.512G>A	3.37:g.14706561G>A	ENSP00000373304:p.Arg171His					CCDC174_ENST00000303688.7_Missense_Mutation_p.R171H	p.R171H	NM_016474.4	NP_057558.3					6	585	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.512G>A	CCDS2620.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.29|19.29	3.799752|3.799752	0.70567|0.70567	.|.	.|.	ENSG00000154781|ENSG00000154781	ENST00000383794;ENST00000303688|ENST00000285042	T;T|.	0.72505|.	-0.66;0.03|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.146815|.	0.45606|.	D|.	0.000344|.	D|D	0.83857|0.83857	0.5345|0.5345	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|D	0.87153|0.87153	0.2210|0.2210	10|6	0.72032|0.66056	D|D	0.01|0.02	-12.0105|-12.0105	17.2927|17.2927	0.87162|0.87162	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171|.	Q6PII3|.	CC019_HUMAN|.	H|I	171|76	ENSP00000373304:R171H;ENSP00000302344:R171H|.	ENSP00000302344:R171H|ENSP00000285042:V76I	R|V	+|+	2|1	0|0	C3orf19|C3orf19	14681565|14681565	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.833000|0.833000	0.47200|0.47200	7.196000|7.196000	0.77805|0.77805	2.374000|2.374000	0.81015|0.81015	0.591000|0.591000	0.81541|0.81541	CGT|GTT		0.473	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		4	173	0	0	0	1	0	4	173				
RPL23AP53	644128	broad.mit.edu	37	8	163279	163279	+	RNA	SNP	T	T	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:163279T>A	ENST00000606975.1	-	0	642									ribosomal protein L23a pseudogene 53																		CATCCAAAGCTTCATAATCAG	0.388																																						ENST00000606975.1																			0																																																			0							g.chr8:163279T>A			8p23.3	2014-06-17			ENSG00000223508	ENSG00000223508			35921	pseudogene	pseudogene						19123937	Standard	NR_003572		Approved		uc010lrb.4				8.37:g.163279T>A														0	642	-									RNA	SNP	ENST00000606975.1	37																																																																																						0.388	RPL23AP53-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470409.1	NR_003572		4	33	0	0	0	1	0	4	33				
CENPF	1063	broad.mit.edu	37	1	214820611	214820611	+	Silent	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:214820611G>A	ENST00000366955.3	+	13	7866	c.7698G>A	c.(7696-7698)gaG>gaA	p.E2566E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2662	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGGAATTGGAGCAGAAGATCC	0.433																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(7696-7698)gaG>gaA		centromere protein F, 350/400kDa							82.0	80.0	80.0					1																	214820611		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214820611G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7698G>A	1.37:g.214820611G>A							p.E2566E	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	7866	+			2662			2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.7698G>A	CCDS31023.1																																																																																				0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		3	76	0	0	0	1	0	3	76				
VWA9	81556	broad.mit.edu	37	15	65877142	65877142	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:65877142T>C	ENST00000395644.4	-	10	1540	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	VWA9_ENST00000313182.2_Missense_Mutation_p.N402S|VWA9_ENST00000569180.1_5'Flank|VWA9_ENST00000567744.1_Missense_Mutation_p.N438S|VWA9_ENST00000420799.2_Missense_Mutation_p.N345S|VWA9_ENST00000569491.1_Missense_Mutation_p.N352S|VWA9_ENST00000431261.2_Missense_Mutation_p.N323S|VWA9_ENST00000442903.3_Missense_Mutation_p.N366S			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	402																	GACAGTCACATTCTGGGCATA	0.468																																						ENST00000395644.4																			0											c.(1204-1206)aAt>aGt		von Willebrand factor A domain containing 9							149.0	130.0	137.0					15																	65877142		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65877142T>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1205A>G	15.37:g.65877142T>C	ENSP00000379006:p.Asn402Ser					VWA9_ENST00000313182.2_Missense_Mutation_p.N402S|VWA9_ENST00000569491.1_Missense_Mutation_p.N352S|VWA9_ENST00000420799.2_Missense_Mutation_p.N345S|VWA9_ENST00000442903.3_Missense_Mutation_p.N366S|VWA9_ENST00000431261.2_Missense_Mutation_p.N323S|VWA9_ENST00000567744.1_Missense_Mutation_p.N438S	p.N402S							10	1540	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.1205A>G		.	.	.	.	.	.	.	.	.	.	T	13.85	2.361630	0.41801	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.65	5.65	0.86999	.	0.170574	0.64402	D	0.000006	T	0.49253	0.1546	L	0.33485	1.01	0.58432	D	0.999993	B;B;B;B	0.32101	0.356;0.02;0.134;0.134	B;B;B;B	0.33454	0.164;0.02;0.018;0.018	T	0.47114	-0.9142	9	0.37606	T	0.19	-33.4736	16.0399	0.80667	0.0:0.0:0.0:1.0	.	352;366;438;402	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	S	402;402;323;345;366	.	ENSP00000326379:N402S	N	-	2	0	C15orf44	63664195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.024000	0.70857	2.371000	0.80710	0.533000	0.62120	AAT		0.468	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		14	26	0	0	0	1	0	14	26				
PKHD1L1	93035	broad.mit.edu	37	8	110457580	110457580	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:110457580G>A	ENST00000378402.5	+	38	5586	c.5482G>A	c.(5482-5484)Gtc>Atc	p.V1828I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1828	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAACCTGACTGTCAGCAGCCC	0.493										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5482-5484)Gtc>Atc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							83.0	84.0	84.0					8																	110457580		1952	4142	6094	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457580G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5482G>A	8.37:g.110457580G>A	ENSP00000367655:p.Val1828Ile	HNSCC(38;0.096)					p.V1828I	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5586	+			1828			IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5482G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	2.362	-0.346275	0.05208	.	.	ENSG00000205038	ENST00000378402	D	0.86230	-2.09	6.03	-2.74	0.05932	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.461140	0.21276	N	0.077233	T	0.75831	0.3903	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.60281	-0.7294	10	0.35671	T	0.21	.	6.686	0.23146	0.3221:0.3311:0.3467:0.0	.	1828	Q86WI1	PKHL1_HUMAN	I	1828	ENSP00000367655:V1828I	ENSP00000367655:V1828I	V	+	1	0	PKHD1L1	110526756	0.594000	0.26849	0.004000	0.12327	0.148000	0.21650	0.782000	0.26788	-0.627000	0.05589	-0.878000	0.02970	GTC		0.493	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	76	0	0	0	1	0	4	76				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	83	0	0	0	1	0	4	83				
NPFFR2	10886	broad.mit.edu	37	4	73013276	73013276	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr4:73013276A>G	ENST00000308744.6	+	4	1414	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N337S|NPFFR2_ENST00000395999.1_Missense_Mutation_p.N340S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	439					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGTTTCTTCAACGAGAATTTC	0.453																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1315-1317)aAc>aGc		neuropeptide FF receptor 2							85.0	87.0	86.0					4																	73013276		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013276A>G	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1316A>G	4.37:g.73013276A>G	ENSP00000307822:p.Asn439Ser					NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N337S|NPFFR2_ENST00000395999.1_Missense_Mutation_p.N340S	p.N439S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1414	+			439					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1316A>G	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.946377	0.53079	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.39997	1.05;1.05;1.05	5.83	5.83	0.93111	.	0.331540	0.25948	N	0.027278	T	0.64789	0.2630	M	0.74467	2.265	0.80722	D	1	D;D	0.64830	0.994;0.974	D;P	0.69824	0.966;0.878	T	0.66830	-0.5824	10	0.54805	T	0.06	.	15.8582	0.79000	1.0:0.0:0.0:0.0	.	340;439	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	S	439;340;337	ENSP00000307822:N439S;ENSP00000379321:N340S;ENSP00000351599:N337S	ENSP00000307822:N439S	N	+	2	0	NPFFR2	73232140	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	9.195000	0.94971	2.225000	0.72522	0.533000	0.62120	AAC		0.453	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		24	65	0	0	0	1	0	24	65				
HEY2	23493	broad.mit.edu	37	6	126080274	126080274	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr6:126080274G>A	ENST00000368364.3	+	5	537	c.340G>A	c.(340-342)Gca>Aca	p.A114T	HEY2_ENST00000368365.1_Missense_Mutation_p.A68T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	114	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A114P(1)|p.A114T(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CTACTTTGACGCACACGCTCT	0.527																																						ENST00000368364.3																			2	Substitution - Missense(2)	p.A114P(1)|p.A114T(1)	large_intestine(1)|lung(1)	breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(340-342)Gca>Aca		hes-related family bHLH transcription factor with YRPW motif 2							127.0	119.0	122.0					6																	126080274		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080274G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.340G>A	6.37:g.126080274G>A	ENSP00000357348:p.Ala114Thr					HEY2_ENST00000368365.1_Missense_Mutation_p.A68T	p.A114T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	537	+			114			Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).			Missense_Mutation	SNP	ENST00000368364.3	37	c.340G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789287	0.96945	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.41400	1.0;1.0	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.23727	0.0574	L	0.42581	1.335	0.80722	D	1	B	0.28584	0.216	B	0.26517	0.07	T	0.06427	-1.0827	10	0.18276	T	0.48	-8.2687	19.5573	0.95357	0.0:0.0:1.0:0.0	.	114	Q9UBP5	HEY2_HUMAN	T	68;114	ENSP00000357349:A68T;ENSP00000357348:A114T	ENSP00000357348:A114T	A	+	1	0	HEY2	126121967	1.000000	0.71417	0.872000	0.34217	0.948000	0.59901	7.917000	0.87498	2.629000	0.89072	0.561000	0.74099	GCA		0.527	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			3	74	0	0	0	1	0	3	74				
DNM1P47	100216544	broad.mit.edu	37	15	102304884	102304884	+	RNA	SNP	G	G	C	rs192934815		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:102304884G>C	ENST00000561463.1	+	0	12930									DNM1 pseudogene 47																		GCGTGGGAACGAGAAGACACT	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304884G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304884G>C														0	12930	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	13	0	0	0	1	0	3	13				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs564183572		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612																																						ENST00000600376.1																			0																																																			0							g.chr10:81443821C>G																													10.37:g.81443821C>G						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.612	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			3	33	0	0	0	1	0	3	33				
CASC3	22794	broad.mit.edu	37	17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	rs139973585		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr17:38319961G>A	ENST00000264645.7	+	7	1239	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	338					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGGTGGCCGGTCTGGTGAG	0.552																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1012-1014)cGg>cAg		cancer susceptibility candidate 3		G	GLN/ARG	0,4406		0,0,2203	205.0	196.0	199.0		1013	4.8	1.0	17	dbSNP_134	199	2,8598	2.2+/-6.3	0,2,4298	no	missense	CASC3	NM_007359.4	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	338/704	38319961	2,13004	2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38319961G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1013G>A	17.37:g.38319961G>A	ENSP00000264645:p.Arg338Gln						p.R338Q	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			7	1239	+			338					A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1013G>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460726	0.84317	0.0	2.33E-4	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.74	4.76	0.60689	.	0.368102	0.27159	N	0.020656	T	0.21145	0.0509	N	0.19112	0.55	0.30776	N	0.742493	P;P	0.52692	0.955;0.817	B;B	0.38194	0.267;0.143	T	0.11616	-1.0580	9	0.40728	T	0.16	-15.3922	10.9762	0.47467	0.1447:0.0:0.8553:0.0	.	338;338	B4DKR6;O15234	.;CASC3_HUMAN	Q	338	.	ENSP00000264645:R338Q	R	+	2	0	CASC3	35573487	0.917000	0.31117	1.000000	0.80357	0.982000	0.71751	4.458000	0.60095	2.717000	0.92951	0.655000	0.94253	CGG		0.552	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		4	228	0	0	0	1	0	4	228				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	84	0	0	0	1	0	4	84				
ZNF678	339500	broad.mit.edu	37	1	227843206	227843206	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:227843206C>T	ENST00000343776.5	+	4	1600	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H474Y	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACAGTGCTCTCACCTAACTAG	0.368																																						ENST00000343776.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(1255-1257)Cac>Tac		zinc finger protein 678							28.0	32.0	31.0					1																	227843206		2200	4290	6490	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227843206C>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1255C>T	1.37:g.227843206C>T	ENSP00000344828:p.His419Tyr					ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H474Y	p.H419Y			F5GXA7	F5GXA7_HUMAN			4	1600	+		Prostate(94;0.0885)	474					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.1255C>T		.	.	.	.	.	.	.	.	.	.	C	0.037	-1.303848	0.01353	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.13089	2.62;2.62	1.5	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05410	0.0143	N	0.16201	0.385	0.09310	N	1	B	0.30870	0.298	B	0.32090	0.14	T	0.38178	-0.9673	9	0.14252	T	0.57	.	1.3632	0.02196	0.203:0.4273:0.2021:0.1677	.	419	Q5SXM1	ZN678_HUMAN	Y	419;474	ENSP00000344828:H419Y;ENSP00000440403:H474Y	ENSP00000344828:H419Y	H	+	1	0	ZNF678	225909829	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-6.766000	0.00054	-1.378000	0.02120	-1.284000	0.01376	CAC		0.368	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		3	57	0	0	0	1	0	3	57				
DPP8	54878	broad.mit.edu	37	15	65739246	65739246	+	Silent	SNP	A	A	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:65739246A>C	ENST00000341861.5	-	20	4253	c.2673T>G	c.(2671-2673)cgT>cgG	p.R891R	DPP8_ENST00000321118.7_Silent_p.R842R|DPP8_ENST00000321147.6_Silent_p.R840R|DPP8_ENST00000559233.1_Silent_p.R891R|DPP8_ENST00000358939.4_Silent_p.R775R|DPP8_ENST00000300141.6_Silent_p.R875R|DPP8_ENST00000339244.5_Silent_p.R718R	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	891					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGCAGCAATACGTGATCCAA	0.388																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2671-2673)cgT>cgG		dipeptidyl-peptidase 8							166.0	159.0	161.0					15																	65739246		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65739246A>C	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2673T>G	15.37:g.65739246A>C						DPP8_ENST00000358939.4_Silent_p.R775R|DPP8_ENST00000339244.5_Silent_p.R718R|DPP8_ENST00000321147.6_Silent_p.R840R|DPP8_ENST00000300141.6_Silent_p.R875R|DPP8_ENST00000321118.7_Silent_p.R842R|DPP8_ENST00000559233.1_Silent_p.R891R	p.R891R	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			20	4253	-			891					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.2673T>G	CCDS10207.1																																																																																				0.388	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		53	61	0	0	0	1	0	53	61				
LILRB4	11006	broad.mit.edu	37	19	55179377	55179377	+	Missense_Mutation	SNP	T	T	G	rs149600113		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:55179377T>G	ENST00000391736.1	+	14	1569	c.1254T>G	c.(1252-1254)ttT>ttG	p.F418L	LILRB4_ENST00000391734.3_Missense_Mutation_p.F365L|LILRB4_ENST00000430952.2_Missense_Mutation_p.F417L|LILRB4_ENST00000391733.3_Missense_Mutation_p.F419L|LILRB4_ENST00000270452.2_Missense_Mutation_p.F418L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	418					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCACAGCTTTACCCTCAGAC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16015	0.0		0.0	False		,,,				2504	0.0					ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(1252-1254)ttT>ttG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							93.0	97.0	95.0					19																	55179377		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179377T>G	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1254T>G	19.37:g.55179377T>G	ENSP00000375616:p.Phe418Leu					LILRB4_ENST00000391733.3_Missense_Mutation_p.F419L|LILRB4_ENST00000391734.3_Missense_Mutation_p.F365L|LILRB4_ENST00000270452.2_Missense_Mutation_p.F418L|LILRB4_ENST00000430952.2_Missense_Mutation_p.F417L	p.F418L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	14	1569	+			418					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1254T>G	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.292496	0.01375	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00460	7.32;7.32;7.31;7.27;7.33	2.07	-0.638	0.11500	.	.	.	.	.	T	0.00073	0.0002	N	0.00251	-1.775	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	0.6834	0.00878	0.1703:0.2396:0.3472:0.2428	.	365;419;417;418	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	L	418;418;417;365;419	ENSP00000375616:F418L;ENSP00000270452:F418L;ENSP00000408995:F417L;ENSP00000375614:F365L;ENSP00000375613:F419L	ENSP00000270452:F418L	F	+	3	2	LILRB4	59871189	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.085000	0.14912	-0.134000	0.11516	-0.484000	0.04775	TTT		0.627	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			3	135	0	0	0	1	0	3	135				
SLC26A10	65012	broad.mit.edu	37	12	58016597	58016597	+	Silent	SNP	G	G	T			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr12:58016597G>T	ENST00000320442.4	+	6	1130	c.819G>T	c.(817-819)ctG>ctT	p.L273L	SLC26A10_ENST00000379218.2_Silent_p.L273L	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	273						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCCCAACCTGGCTGAGCTGC	0.567																																						ENST00000379218.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(817-819)ctG>ctT		solute carrier family 26, member 10							92.0	78.0	83.0					12																	58016597		2203	4300	6503	SO:0001819	synonymous_variant	65012					integral to membrane	antiporter activity	g.chr12:58016597G>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.819G>T	12.37:g.58016597G>T						SLC26A10_ENST00000320442.4_Silent_p.L273L	p.L273L			Q8NG04	S2610_HUMAN			6	1130	+	Melanoma(17;0.122)		273					A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	c.819G>T	CCDS8949.2																																																																																				0.567	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			6	155	1	0	3.09899e-07	1	3.51777e-07	6	155				
ZNF493	284443	broad.mit.edu	37	19	21606544	21606544	+	Silent	SNP	C	C	T	rs563481308	byFrequency	TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:21606544C>T	ENST00000355504.4	+	2	965	c.699C>T	c.(697-699)tcC>tcT	p.S233S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S361S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCCTCACACCTTA	0.358													.|||	2	0.000399361	0.0	0.0014	5008	,	,		18685	0.001		0.0	False		,,,				2504	0.0					ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1081-1083)tcC>tcT		zinc finger protein 493							48.0	53.0	51.0					19																	21606544		2202	4296	6498	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606544C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.699C>T	19.37:g.21606544C>T						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S233S	p.S361S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1192	+			233					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1083C>T	CCDS12412.1																																																																																				0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		4	55	0	0	0	1	0	4	55				
MAGI1	9223	broad.mit.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs374381483|rs139785185		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr3:65425588C>T	ENST00000497477.2	-	9	1235	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000330909.8_Silent_p.Q412Q|MAGI1_ENST00000483466.1_Silent_p.Q412Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1234-1236)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1		C	,,	0,4386		0,0,2193	59.0	59.0	59.0		1236,1236,1236	-0.3	0.1	3	dbSNP_134	59	6,8526		0,6,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGI1	NM_001033057.1,NM_004742.2,NM_015520.1	,,	0,6,6453	TT,TC,CC		0.0703,0.0,0.0464	,,	412/1463,412/1257,412/1288	65425588	6,12912	2193	4266	6459	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425588C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1236G>A	3.37:g.65425588C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000497477.2_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q	p.Q412Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1235	-		Lung NSC(201;0.0016)	412			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1236G>A		.	.	.	.	.	.	.	.	.	.	C	1.644	-0.515844	0.04200	0.0	7.03E-4	ENSG00000151276	ENST00000460329	.	.	.	2.7	-0.305	0.12784	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.47511	D	0.999444	.	.	.	.	.	.	T	0.34675	-0.9819	4	.	.	.	.	4.9509	0.14013	0.0:0.4601:0.2291:0.3109	.	.	.	.	N	293	.	.	S	-	2	0	MAGI1	65400628	0.923000	0.31300	0.067000	0.19924	0.012000	0.07955	0.342000	0.19926	-0.240000	0.09696	-0.808000	0.03180	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		3	39	0	0	0	1	0	3	39				
TMEM88B	643965	broad.mit.edu	37	1	1361531	1361533	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:1361531_1361533delGGA	ENST00000378821.3	+	1	24_26	c.24_26delGGA	c.(22-27)acggag>acg	p.E12del		NM_001146685.1	NP_001140157.1	A6NKF7	TM88B_HUMAN	transmembrane protein 88B	12	Poly-Glu.					integral component of membrane (GO:0016021)											GGAGGGAGACGGAGGAGGAGGAG	0.7																																						ENST00000378821.3																			0											c.(22-27)acg>ac		transmembrane protein 88B				16,8,2634		2,0,12,2,4,1309						-1.9	0.0			23	1,9,5546		0,0,1,1,7,2769	no	codingComplex	TMEM88B	NM_001146685.1		2,0,13,3,11,4078	A1A1,A1A2,A1R,A2A2,A2R,RR		0.18,0.9029,0.4139				17,17,8180				SO:0001651	inframe_deletion	643965					integral to membrane		g.chr1:1361531_1361533delGGA		CCDS57964.1	1p36.33	2013-01-16			ENSG00000205116	ENSG00000205116			37099	protein-coding gene	gene with protein product							Standard	NM_001146685		Approved		uc010nyp.2	A6NKF7	OTTHUMG00000153395	ENST00000378821.3:c.24_26delGGA	1.37:g.1361540_1361542delGGA	ENSP00000455099:p.Glu12del						p.TE8del	NM_001146685.1	NP_001140157.1	A6NKF7	TM88B_HUMAN			1	24_26	+			8			Poly-Glu.			In_Frame_Del	DEL	ENST00000378821.3	37	c.24_26delGGA	CCDS57964.1																																																																																				0.700	TMEM88B-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331012.2	NM_001146685		2	4						2	4	---	---	---	---
EVX2	344191	broad.mit.edu	37	2	176944986	176944988	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr2:176944986_176944988delCCG	ENST00000308618.4	-	3	1414_1416	c.1278_1280delCGG	c.(1276-1281)ggcggg>ggg	p.426_427GG>G		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	426	Poly-Gly.				limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		Cccggcgcccccgccgccgccgc	0.783																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(1276-1281)ggg>gg		even-skipped homeobox 2																																				SO:0001651	inframe_deletion	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176944986_176944988delCCG		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.1278_1280delCGG	2.37:g.176944995_176944997delCCG	ENSP00000312385:p.Gly428del						p.GG426del	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	3	1414_1416	-			426			Poly-Gly.			In_Frame_Del	DEL	ENST00000308618.4	37	c.1278_1280delCGG	CCDS33333.1																																																																																				0.783	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			2	4						2	4	---	---	---	---
UBE2W	55284	broad.mit.edu	37	8	74717937	74717937	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:74717937delA	ENST00000602593.1	-	5	443	c.391delT	c.(391-393)tatfs	p.Y131fs	UBE2W_ENST00000419880.3_Frame_Shift_Del_p.Y171fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000517608.1_Frame_Shift_Del_p.Y160fs|UBE2W_ENST00000602969.1_Frame_Shift_Del_p.Y142fs|UBE2W_ENST00000453587.2_Frame_Shift_Del_p.Y131fs			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	131					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			GTTCGCACATAAAAAGAATTA	0.299																																					Pancreas(14;490 592 20090 21022 23311)	ENST00000517608.1																			0				kidney(1)|lung(1)	2						c.(478-480)atfs		ubiquitin-conjugating enzyme E2W (putative)							78.0	69.0	72.0					8																	74717937		1793	4058	5851	SO:0001589	frameshift_variant	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74717937delA	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"""Ubiquitin-conjugating enzymes E2"""	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.391delT	8.37:g.74717937delA	ENSP00000473561:p.Tyr131fs					UBE2W_ENST00000453587.2_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000602969.1_Frame_Shift_Del_p.Y142fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000602593.1_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.Y171fs	p.Y160fs			Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		5	478	-	Breast(64;0.0311)		131					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Frame_Shift_Del	DEL	ENST00000602593.1	37	c.478delT																																																																																					0.299	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		2	4						2	4	---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145515453	145515454	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:145515453_145515454insGG	ENST00000528838.1	+	1	174_175	c.14_15insGG	c.(13-18)gtgggcfs	p.VG5fs	BOP1_ENST00000529231.1_5'Flank|BOP1_ENST00000307404.5_5'Flank	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	5					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GATCTGCCCGTgggccccggcg	0.728																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(13-15)gggfs		heat shock transcription factor 1																																				SO:0001589	frameshift_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145515453_145515454insGG	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.15_16dupGG	8.37:g.145515454_145515455dupGG	ENSP00000431512:p.Val5fs						p.G5fs	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		1	174_175	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5					A8K4L0|A8MW26|Q53XT4	Frame_Shift_Ins	INS	ENST00000528838.1	37	c.14_15insGG	CCDS6419.1																																																																																				0.728	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		2	4						2	4	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr12:57605740_57605742delTGC	ENST00000243077.3	+	87	13755_13757	c.13289_13291delTGC	c.(13288-13293)ttgctg>ttg	p.4430_4431LL>L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4430					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTGCTGTTGCTGCTGCTGCT	0.557																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13288-13293)ttg>t		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001651	inframe_deletion	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605740_57605742delTGC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13289_13291delTGC	12.37:g.57605749_57605751delTGC	ENSP00000243077:p.Leu4434del						p.LL4432del	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	87	13755_13757	+			4432					Q2PP12|Q86SW0|Q8IVG8	In_Frame_Del	DEL	ENST00000243077.3	37	c.13289_13291delTGC	CCDS8932.1																																																																																				0.557	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		10	406						10	406	---	---	---	---
APEX1	328	broad.mit.edu	37	14	20923820	20923820	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr14:20923820delA	ENST00000216714.3	+	2	284	c.16delA	c.(16-18)aaafs	p.K7fs	APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|OSGEP_ENST00000206542.4_5'Flank|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557365.1_Intron	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	7	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAAGCGTGGGAAAAAGGGAGC	0.557								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(16-18)aafs	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						111.0	101.0	104.0					14																	20923820		2203	4300	6503	SO:0001589	frameshift_variant	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20923820delA	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.16delA	14.37:g.20923820delA	ENSP00000216714:p.Lys7fs					APEX1_ENST00000557365.1_Intron|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs	p.K7fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	2	284	+	all_cancers(95;0.00123)	all_lung(585;0.235)	7			Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.		Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	c.16delA	CCDS9550.1																																																																																				0.557	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		8	284						8	284	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25328849	25328850	+	RNA	DEL	AG	AG	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:25328849_25328850delAG	ENST00000546682.1	+	0	320				SNHG14_ENST00000549804.2_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-18_ENST00000383961.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATCAGGGGCTAGAGAGAGAGAC	0.46																																						ENST00000546682.1																			0																																																			0							g.chr15:25328849_25328850delAG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25328857_25328858delAG						SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	320	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.460	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			8	135						8	135	---	---	---	---
RP11-519G16.3	0	broad.mit.edu	37	15	45755307	45755309	+	RNA	DEL	CAC	CAC	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:45755307_45755309delCAC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000559869.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000559960.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA																							acatcaccatcaccaccaccacc	0.596																																						ENST00000560077.1																			0																																																			0							g.chr15:45755307_45755309delCAC																													15.37:g.45755316_45755318delCAC						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA								0	41	+									RNA	DEL	ENST00000560077.1	37																																																																																						0.596	RP11-519G16.3-005	KNOWN	basic	antisense	antisense	OTTHUMT00000416549.1			3	5						3	5	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824|rs111811281|rs11080396		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr18:112402_112405delAACC	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCCTGCCCCGAACCACCCGACCCC	0.711																																						ENST00000576266.1																			0																																																			0							g.chr18:112402_112405delAACC			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112402_112405delAACC														0	36_39	+									RNA	DEL	ENST00000608049.1	37																																																																																						0.711	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			7	2						7	2	---	---	---	---
NUMBL	9253	broad.mit.edu	37	19	41179384	41179384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:41179384delC	ENST00000252891.4	-	8	1068	c.901delG	c.(901-903)gttfs	p.V301fs	NUMBL_ENST00000598779.1_Frame_Shift_Del_p.V260fs|NUMBL_ENST00000540131.1_Frame_Shift_Del_p.V260fs	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	301					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CCCTGGCGAACCAGCTGCTCC	0.657																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(901-903)ttfs		numb homolog (Drosophila)-like							26.0	22.0	24.0					19																	41179384		2202	4297	6499	SO:0001589	frameshift_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41179384delC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.901delG	19.37:g.41179384delC	ENSP00000252891:p.Val301fs					NUMBL_ENST00000540131.1_Frame_Shift_Del_p.V260fs|NUMBL_ENST00000598779.1_Frame_Shift_Del_p.V260fs	p.V301fs	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		8	1068	-			301					Q7Z4J9	Frame_Shift_Del	DEL	ENST00000252891.4	37	c.901delG	CCDS12561.1																																																																																				0.657	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		2	4						2	4	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		7	292						7	292	---	---	---	---
