#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
ITSN1	6453	broad.mit.edu	37	21	35190641	35190641	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr21:35190641A>C	ENST00000381318.3	+	23	3086	c.2798A>C	c.(2797-2799)aAt>aCt	p.N933T	ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T|ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T|ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	933	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AACCACTTAAATTTTAACAAA	0.453																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2797-2799)aAt>aCt		intersectin 1 (SH3 domain protein)							129.0	125.0	127.0					21																	35190641		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35190641A>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2798A>C	21.37:g.35190641A>C	ENSP00000370719:p.Asn933Thr					ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T	p.N933T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			23	3086	+			933			SH3 2.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.2798A>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725682	0.89298	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442;ENST00000399326	T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.75	5.75	0.90469	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	N	0.10760	0.04	0.80722	D	1	B;D;B;D;B;D;D;B;D	0.76494	0.024;0.999;0.233;0.999;0.02;0.999;0.999;0.019;0.99	B;D;B;D;B;D;D;B;D	0.91635	0.023;0.999;0.315;0.998;0.032;0.998;0.998;0.013;0.928	T	0.42799	-0.9430	10	0.59425	D	0.04	.	16.0623	0.80847	1.0:0.0:0.0:0.0	.	896;896;891;928;933;928;933;928;891	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	T	891;933;933;933;933;928;928;928;933;928;928;928	ENSP00000382290:N891T;ENSP00000370719:N933T;ENSP00000370691:N933T;ENSP00000370685:N933T;ENSP00000382301:N928T;ENSP00000382289:N928T;ENSP00000382292:N933T;ENSP00000382286:N928T;ENSP00000387377:N928T;ENSP00000382265:N928T	ENSP00000370685:N933T	N	+	2	0	ITSN1	34112511	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.930000	0.92872	2.196000	0.70406	0.374000	0.22700	AAT		0.453	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		6	59	0	0	0	1	0	6	59				
TEX13A	56157	broad.mit.edu	37	X	104464700	104464700	+	Silent	SNP	G	G	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:104464700G>T	ENST00000413579.1	-	2	493	c.382C>A	c.(382-384)Cgg>Agg	p.R128R	TEX13A_ENST00000372578.3_Silent_p.R128R|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Silent_p.R128R			Q9BXU3	TX13A_HUMAN	testis expressed 13A	128							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATTCTTAGCCGGGAGGCCGCC	0.592																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(382-384)Cgg>Agg		testis expressed 13A							36.0	37.0	36.0					X																	104464700		2140	4213	6353	SO:0001819	synonymous_variant	56157					intracellular	zinc ion binding	g.chrX:104464700G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.382C>A	X.37:g.104464700G>T						TEX13A_ENST00000372575.1_Silent_p.R128R|TEX13A_ENST00000413579.1_Silent_p.R128R|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron	p.R128R	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			2	493	-			128					B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37	c.382C>A																																																																																					0.592	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		3	22	1	0	0.004672	1	0.004672	3	22				
PIK3CD	5293	broad.mit.edu	37	1	9784114	9784114	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:9784114G>A	ENST00000377346.4	+	21	2877	c.2682G>A	c.(2680-2682)cgG>cgA	p.R894R	PIK3CD_ENST00000536656.1_Silent_p.R918R|PIK3CD_ENST00000361110.2_Silent_p.R918R	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	894	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TTGGCGATCGGCACAGCGACA	0.632																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2752-2754)cgG>cgA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							181.0	166.0	171.0					1																	9784114		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9784114G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2682G>A	1.37:g.9784114G>A						PIK3CD_ENST00000361110.2_Silent_p.R918R|PIK3CD_ENST00000377346.4_Silent_p.R894R	p.R918R			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	21	2962	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	894			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.2754G>A	CCDS104.1																																																																																				0.632	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		4	77	0	0	0	1	0	4	77				
HSD3B7	80270	broad.mit.edu	37	16	30999231	30999231	+	Silent	SNP	C	C	T	rs376286513		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr16:30999231C>T	ENST00000297679.5	+	7	930	c.837C>T	c.(835-837)tgC>tgT	p.C279C	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	279					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGGGCCCCTGCGGACTGCGGC	0.642																																						ENST00000297679.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(835-837)tgC>tgT		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7		C	,,	1,4393	2.1+/-5.4	0,1,2196	108.0	113.0	111.0		,,837	-9.7	0.4	16		111	0,8600		0,0,4300	no	utr-3,utr-3,coding-synonymous	HSD3B7	NM_001142777.1,NM_001142778.1,NM_025193.3	,,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,,	,,279/370	30999231	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30999231C>T	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.837C>T	16.37:g.30999231C>T						HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	p.C279C	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN			7	930	+			279					Q96M28|Q9BSN9	Silent	SNP	ENST00000297679.5	37	c.837C>T	CCDS10698.1																																																																																				0.642	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			4	123	0	0	0	1	0	4	123				
MCCC1	56922	broad.mit.edu	37	3	182756832	182756832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:182756832G>T	ENST00000265594.4	-	12	1505	c.1359C>A	c.(1357-1359)taC>taA	p.Y453*	MCCC1_ENST00000489909.1_5'Flank|MCCC1_ENST00000539926.1_Nonsense_Mutation_p.Y318*|MCCC1_ENST00000492597.1_Nonsense_Mutation_p.Y344*	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	453	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GACGAAGGCTGTACCTCAGTT	0.527																																						ENST00000492597.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(1030-1032)taC>taA		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						140.0	114.0	122.0					3																	182756832		2203	4300	6503	SO:0001587	stop_gained	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182756832G>T	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1359C>A	3.37:g.182756832G>T	ENSP00000265594:p.Tyr453*					MCCC1_ENST00000539926.1_Nonsense_Mutation_p.Y318*|MCCC1_ENST00000265594.4_Nonsense_Mutation_p.Y453*	p.Y344*			Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		11	1734	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		453			ATP-grasp.|Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Nonsense_Mutation	SNP	ENST00000265594.4	37	c.1032C>A	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	39	7.495967	0.98319	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	.	.	.	5.82	5.82	0.92795	.	0.156978	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-42.7746	14.2722	0.66157	0.0707:0.0:0.9293:0.0	.	.	.	.	X	453;344;303;318;406;406	.	ENSP00000265594:Y453X	Y	-	3	2	MCCC1	184239526	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.507000	0.53371	2.752000	0.94435	0.655000	0.94253	TAC		0.527	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		18	19	1	0	2.35188e-11	1	2.54003e-11	18	19				
CDH6	1004	broad.mit.edu	37	5	31318075	31318075	+	Intron	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:31318075C>T	ENST00000265071.2	+	11	2147				CDH6_ENST00000514738.1_Silent_p.G587G	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGTGAGGGGCTCACACTGTT	0.522																																						ENST00000514738.1																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1759-1761)ggC>ggT		cadherin 6, type 2, K-cadherin (fetal kidney)							57.0	59.0	58.0					5																	31318075		2200	4292	6492	SO:0001627	intron_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31318075C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1882+44C>T	5.37:g.31318075C>T						CDH6_ENST00000265071.2_Intron	p.G587G			P55285	CADH6_HUMAN			11	2191	+			0			Cadherin 5.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.1761C>T	CCDS3894.1																																																																																				0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		20	21	0	0	0	1	0	20	21				
FANK1	92565	broad.mit.edu	37	10	127677139	127677139	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr10:127677139G>C	ENST00000368693.1	+	3	315	c.211G>C	c.(211-213)Gtt>Ctt	p.V71L	FANK1_ENST00000449042.2_Missense_Mutation_p.V65L|FANK1_ENST00000368695.1_Missense_Mutation_p.V65L|FANK1_ENST00000368689.1_Missense_Mutation_p.V65L			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	71	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AACGAAGCATGTTGTTGAAGG	0.512																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(193-195)Gtt>Ctt		fibronectin type III and ankyrin repeat domains 1							260.0	236.0	244.0					10																	127677139		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127677139G>C	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.211G>C	10.37:g.127677139G>C	ENSP00000357682:p.Val71Leu					FANK1_ENST00000368689.1_Missense_Mutation_p.V65L|FANK1_ENST00000449042.2_Missense_Mutation_p.V65L|FANK1_ENST00000368693.1_Missense_Mutation_p.V71L	p.V65L	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			3	315	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	71			Fibronectin type-III.		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.193G>C	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421722	0.25639	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000449042;ENST00000417114;ENST00000445510;ENST00000368691;ENST00000368689;ENST00000368692	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.07	3.18	0.36537	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.171981	0.33959	N	0.004392	T	0.18045	0.0433	N	0.21448	0.665	0.09310	N	1	B;B;B;B	0.14805	0.011;0.005;0.002;0.001	B;B;B;B	0.17979	0.006;0.02;0.01;0.003	T	0.15780	-1.0425	10	0.23302	T	0.38	-21.6663	8.3196	0.32121	0.2509:0.0:0.7491:0.0	.	65;71;71;71	B7Z939;Q8TC84-3;Q8TC84-2;Q8TC84	.;.;.;FANK1_HUMAN	L	65;71;65;65;65;65;65;71	ENSP00000357684:V65L;ENSP00000357682:V71L;ENSP00000411388:V65L;ENSP00000396356:V65L;ENSP00000415719:V65L;ENSP00000357680:V65L;ENSP00000357678:V65L	ENSP00000357678:V65L	V	+	1	0	FANK1	127667129	0.345000	0.24835	0.045000	0.18777	0.323000	0.28346	2.001000	0.40825	1.360000	0.45960	0.650000	0.86243	GTT		0.512	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		6	113	0	0	0	1	0	6	113				
TFG	10342	broad.mit.edu	37	3	100447586	100447586	+	Missense_Mutation	SNP	G	G	C	rs77118429	byFrequency	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:100447586G>C	ENST00000240851.4	+	4	639	c.299G>C	c.(298-300)aGt>aCt	p.S100T	TFG_ENST00000476228.1_Missense_Mutation_p.S100T|TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000490574.1_Missense_Mutation_p.S100T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	100					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CTTGAATCAAGTCAGGTGAAA	0.368			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(298-300)aGt>aCt		TRK-fused gene							69.0	70.0	70.0					3																	100447586		2203	4300	6503	SO:0001583	missense	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100447586G>C	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.299G>C	3.37:g.100447586G>C	ENSP00000240851:p.Ser100Thr					TFG_ENST00000490574.1_Missense_Mutation_p.S100T|TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000476228.1_Missense_Mutation_p.S100T	p.S100T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			4	639	+			100					D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	c.299G>C	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443292	0.43429	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.05	5.05	0.67936	.	0.202993	0.64402	D	0.000012	T	0.29061	0.0722	L	0.55481	1.735	0.42527	D	0.993022	P;P	0.37330	0.59;0.455	B;B	0.29176	0.099;0.068	T	0.10823	-1.0613	10	0.06494	T	0.89	-12.0634	10.1066	0.42537	0.1258:0.0:0.8742:0.0	.	100;100	G5E9V1;Q92734	.;TFG_HUMAN	T	100	ENSP00000397182:S100T;ENSP00000419960:S100T;ENSP00000240851:S100T;ENSP00000419559:S100T;ENSP00000417952:S100T;ENSP00000419504:S100T;ENSP00000420797:S100T	ENSP00000240851:S100T	S	+	2	0	TFG	101930276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.664000	0.54525	2.470000	0.83445	0.655000	0.94253	AGT		0.368	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		45	40	0	0	0	1	0	45	40				
SEH1L	81929	broad.mit.edu	37	18	12955541	12955541	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr18:12955541G>A	ENST00000262124.11	+	3	369	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	SEH1L_ENST00000399892.2_Missense_Mutation_p.R81Q	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	81					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						TCTTTTGACCGAACAGCTGCT	0.453																																						ENST00000262124.11																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(241-243)cGa>cAa		SEH1-like (S. cerevisiae)							144.0	128.0	133.0					18																	12955541		2203	4300	6503	SO:0001583	missense	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12955541G>A	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.242G>A	18.37:g.12955541G>A	ENSP00000262124:p.Arg81Gln					SEH1L_ENST00000399892.2_Missense_Mutation_p.R81Q	p.R81Q	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN			3	369	+			81					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	c.242G>A	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	35	5.509864	0.96386	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.61510	0.1;0.1	5.89	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	L	0.49699	1.58	0.80722	D	1	D;D	0.69078	0.989;0.997	P;P	0.61592	0.846;0.891	T	0.71080	-0.4696	10	0.62326	D	0.03	-0.8208	14.9639	0.71176	0.0683:0.0:0.9317:0.0	.	81;81	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	Q	81	ENSP00000382779:R81Q;ENSP00000262124:R81Q	ENSP00000262124:R81Q	R	+	2	0	SEH1L	12945541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.376000	0.97181	1.485000	0.48380	0.655000	0.94253	CGA		0.453	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		3	50	0	0	0	1	0	3	50				
EMILIN3	90187	broad.mit.edu	37	20	39990606	39990606	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr20:39990606C>T	ENST00000332312.3	-	4	1795	c.1603G>A	c.(1603-1605)Gca>Aca	p.A535T		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	535						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TTCACCTCTGCCACGAGGCTG	0.642																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1603-1605)Gca>Aca		elastin microfibril interfacer 3							53.0	55.0	55.0					20																	39990606		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990606C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1603G>A	20.37:g.39990606C>T	ENSP00000332806:p.Ala535Thr						p.A535T	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1795	-		Myeloproliferative disorder(115;0.00425)	535					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1603G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.468815	0.01053	.	.	ENSG00000183798	ENST00000332312	T	0.13196	2.61	4.86	-2.13	0.07144	.	0.529823	0.19065	N	0.123659	T	0.06781	0.0173	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.35624	-0.9781	9	.	.	.	-0.4294	6.4816	0.22065	0.1181:0.3842:0.0:0.4977	.	535	Q9NT22	EMIL3_HUMAN	T	535	ENSP00000332806:A535T	.	A	-	1	0	EMILIN3	39424020	0.018000	0.18449	0.004000	0.12327	0.542000	0.35054	0.210000	0.17455	-0.410000	0.07542	0.561000	0.74099	GCA		0.642	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		7	61	0	0	0	1	0	7	61				
UNC13C	440279	broad.mit.edu	37	15	54307601	54307601	+	Missense_Mutation	SNP	G	G	A	rs201822096	byFrequency	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:54307601G>A	ENST00000260323.11	+	1	2501	c.2501G>A	c.(2500-2502)cGg>cAg	p.R834Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.R834Q|UNC13C_ENST00000545554.1_Missense_Mutation_p.R834Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	834					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R834Q(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGATTTCGGACATTATCT	0.438													G|||	3	0.000599042	0.0	0.0	5008	,	,		17972	0.003		0.0	False		,,,				2504	0.0					ENST00000545554.1																			2	Substitution - Missense(2)	p.R834Q(2)	large_intestine(2)	breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(2500-2502)cGg>cAg		unc-13 homolog C (C. elegans)		G	GLN/ARG	0,3938		0,0,1969	83.0	82.0	83.0		2501	5.7	1.0	15		83	1,8309		0,1,4154	yes	missense	UNC13C	NM_001080534.1	43	0,1,6123	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	834/2215	54307601	1,12247	1969	4155	6124	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307601G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2501G>A	15.37:g.54307601G>A	ENSP00000260323:p.Arg834Gln					UNC13C_ENST00000260323.11_Missense_Mutation_p.R834Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R834Q	p.R834Q			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2501	+			834					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2501G>A	CCDS45264.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	22.9	4.345264	0.82022	0.0	1.2E-4	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85629	-2.01;-2.0;-2.01	5.69	5.69	0.88448	.	.	.	.	.	T	0.81148	0.4762	L	0.29908	0.895	0.46011	D	0.998816	D	0.71674	0.998	P	0.52627	0.704	D	0.84538	0.0637	9	0.56958	D	0.05	.	18.7937	0.91985	0.0:0.0:1.0:0.0	.	834	Q8NB66	UN13C_HUMAN	Q	834	ENSP00000260323:R834Q;ENSP00000438156:R834Q;ENSP00000442569:R834Q	ENSP00000260323:R834Q	R	+	2	0	UNC13C	52094893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.681000	0.91329	0.650000	0.86243	CGG		0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		13	13	0	0	0	1	0	13	13				
GOLGA4	2803	broad.mit.edu	37	3	37367122	37367122	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:37367122A>G	ENST00000361924.2	+	14	4119	c.3745A>G	c.(3745-3747)Agg>Ggg	p.R1249G	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1249	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATTCTTTCTAGGATTTCTCA	0.348																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3745-3747)Agg>Ggg		golgin A4							90.0	93.0	92.0					3																	37367122		2203	4299	6502	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367122A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3745A>G	3.37:g.37367122A>G	ENSP00000354486:p.Arg1249Gly					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G	p.R1249G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	4119	+			1249			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3745A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300451	0.60195	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.27890	1.65;1.64;1.65	5.53	4.34	0.51931	.	0.000000	0.40222	N	0.001147	T	0.41719	0.1171	L	0.32530	0.975	0.30405	N	0.779633	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;P	0.83275	0.996;0.996;0.996;0.738	T	0.36383	-0.9750	10	0.27785	T	0.31	.	12.5727	0.56347	0.861:0.139:0.0:0.0	.	1249;1249;1271;1249	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	G	1249;1271;1120	ENSP00000354486:R1249G;ENSP00000349305:R1271G;ENSP00000405842:R1120G	ENSP00000349305:R1271G	R	+	1	2	GOLGA4	37342126	1.000000	0.71417	0.906000	0.35671	0.988000	0.76386	4.841000	0.62824	0.898000	0.36418	0.460000	0.39030	AGG		0.348	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		30	46	0	0	0	1	0	30	46				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	28	0	0	0	1	0	6	28				
TTC39B	158219	broad.mit.edu	37	9	15185290	15185290	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr9:15185290G>C	ENST00000512701.2	-	16	1638	c.1602C>G	c.(1600-1602)atC>atG	p.I534M	TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000355694.2_Missense_Mutation_p.I468M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M|TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	534										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GGGCAGGTAAGATGAGCTTCA	0.438																																						ENST00000355694.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(1402-1404)atC>atG		tetratricopeptide repeat domain 39B							100.0	101.0	101.0					9																	15185290		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15185290G>C	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1602C>G	9.37:g.15185290G>C	ENSP00000422496:p.Ile534Met					TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M|TTC39B_ENST00000512701.1_Missense_Mutation_p.I534M|TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M	p.I468M	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN			16	1638	-			468					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.1404C>G	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457555	0.26161	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.85	3.01	0.34805	.	0.619056	0.16610	N	0.206935	T	0.40670	0.1126	L	0.59436	1.845	0.09310	N	0.999996	P;P;B;B;P	0.45715	0.837;0.865;0.135;0.135;0.655	B;P;B;B;B	0.47891	0.424;0.56;0.436;0.436;0.419	T	0.23226	-1.0194	10	0.37606	T	0.19	-3.5878	3.384	0.07265	0.1387:0.1036:0.5127:0.245	.	465;521;466;468;51	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	M	521;465;468;534;369;369	ENSP00000370231:I521M;ENSP00000297615:I465M;ENSP00000347920:I468M;ENSP00000422496:I534M;ENSP00000426539:I369M;ENSP00000423392:I369M	ENSP00000297615:I465M	I	-	3	3	TTC39B	15175290	0.156000	0.22821	0.156000	0.22583	0.693000	0.40251	0.689000	0.25437	0.804000	0.34136	0.563000	0.77884	ATC		0.438	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		5	82	0	0	0	1	0	5	82				
YARS2	51067	broad.mit.edu	37	12	32903729	32903729	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr12:32903729G>A	ENST00000324868.8	-	3	1054	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	YARS2_ENST00000551673.1_5'Flank	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	343					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TGAGGACCCCGCCTTTCTGGC	0.433																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1027-1029)Cgg>Tgg		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						96.0	88.0	91.0					12																	32903729		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32903729G>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1027C>T	12.37:g.32903729G>A	ENSP00000320658:p.Arg343Trp						p.R343W	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			3	1054	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		343					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.1027C>T	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015342	0.35511	.	.	ENSG00000139131	ENST00000324868	T	0.56941	0.43	4.78	2.81	0.32909	.	0.140848	0.47852	N	0.000216	T	0.43366	0.1244	M	0.75777	2.31	0.52501	D	0.999954	B	0.30870	0.298	B	0.17098	0.017	T	0.48681	-0.9014	10	0.56958	D	0.05	-18.5624	3.0591	0.06194	0.2524:0.0:0.5379:0.2097	.	343	Q9Y2Z4	SYYM_HUMAN	W	343	ENSP00000320658:R343W	ENSP00000320658:R343W	R	-	1	2	YARS2	32794996	1.000000	0.71417	0.980000	0.43619	0.819000	0.46315	1.133000	0.31430	1.158000	0.42547	0.650000	0.86243	CGG		0.433	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		20	21	0	0	0	1	0	20	21				
ZNF711	7552	broad.mit.edu	37	X	84526039	84526039	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:84526039C>T	ENST00000373165.3	+	9	1797	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	ZNF711_ENST00000395402.1_Silent_p.A505A|ZNF711_ENST00000360700.4_Silent_p.A543A|ZNF711_ENST00000542798.1_Silent_p.A339A|ZNF711_ENST00000276123.3_Silent_p.A497A	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	497					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ATTTGTTGGCCGTTCACAGCA	0.408																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(1627-1629)gcC>gcT		zinc finger protein 711							92.0	75.0	81.0					X																	84526039		2203	4300	6503	SO:0001819	synonymous_variant	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526039C>T	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1491C>T	X.37:g.84526039C>T						ZNF711_ENST00000542798.1_Silent_p.A339A|ZNF711_ENST00000373165.3_Silent_p.A497A|ZNF711_ENST00000395402.1_Silent_p.A505A|ZNF711_ENST00000276123.3_Silent_p.A497A	p.A543A			Q9Y462	ZN711_HUMAN			10	2515	+			497					B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	c.1629C>T	CCDS35344.1																																																																																				0.408	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		3	36	0	0	0	1	0	3	36				
GLUD2	2747	broad.mit.edu	37	X	120182329	120182329	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:120182329G>A	ENST00000328078.1	+	1	868	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	264					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGCCAAGGGGGAATCCATGGA	0.478																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(790-792)gGa>gAa		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						128.0	97.0	108.0					X																	120182329		2203	4297	6500	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182329G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.791G>A	X.37:g.120182329G>A	ENSP00000327589:p.Gly264Glu						p.G264E	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	868	+			264					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.791G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042554	0.55003	.	.	ENSG00000182890	ENST00000328078	D	0.99014	-5.33	2.33	1.41	0.22369	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.096882	0.64402	D	0.000001	D	0.99554	0.9840	H	0.99877	4.88	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	D	0.97709	1.0189	10	0.87932	D	0	-3.8822	7.6844	0.28532	0.0:0.0:0.7467:0.2533	.	264	P49448	DHE4_HUMAN	E	264	ENSP00000327589:G264E	ENSP00000327589:G264E	G	+	2	0	GLUD2	120010010	1.000000	0.71417	0.002000	0.10522	0.930000	0.56654	6.599000	0.74127	0.263000	0.21812	0.466000	0.42574	GGA		0.478	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		32	4	0	0	0	1	0	32	4				
TEX26	122046	broad.mit.edu	37	13	31531142	31531142	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr13:31531142A>T	ENST00000380473.3	+	4	458	c.445A>T	c.(445-447)Aga>Tga	p.R149*	TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	149																	CCTTACTAAGAGAGACTTTGT	0.438																																						ENST00000380473.3																			0											c.(445-447)Aga>Tga		testis expressed 26							121.0	111.0	114.0					13																	31531142		2203	4300	6503	SO:0001587	stop_gained	122046							g.chr13:31531142A>T	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.445A>T	13.37:g.31531142A>T	ENSP00000369840:p.Arg149*					TEX26_ENST00000530916.1_3'UTR	p.R149*	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN			4	458	+			149						Nonsense_Mutation	SNP	ENST00000380473.3	37	c.445A>T	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	A	36	5.946326	0.97134	.	.	ENSG00000175664	ENST00000380473	.	.	.	4.86	2.39	0.29439	.	0.593231	0.15420	N	0.263293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-10.8111	4.813	0.13353	0.6846:0.0:0.3154:0.0	.	.	.	.	X	149	.	ENSP00000369840:R149X	R	+	1	2	C13orf26	30429142	0.013000	0.17824	0.500000	0.27589	0.890000	0.51754	0.634000	0.24614	0.642000	0.30620	0.533000	0.62120	AGA		0.438	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		24	72	0	0	0	1	0	24	72				
OR4C3	256144	broad.mit.edu	37	11	48347461	48347461	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:48347461G>A	ENST00000319856.4	+	1	990	c.969G>A	c.(967-969)atG>atA	p.M323I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AAAATGCCATGAGAAAGCTCT	0.328																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(967-969)atG>atA		olfactory receptor, family 4, subfamily C, member 3							47.0	48.0	48.0					11																	48347461		2198	4295	6493	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347461G>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.969G>A	11.37:g.48347461G>A	ENSP00000321419:p.Met323Ile						p.M323I	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	990	+			296					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.969G>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	5.815	0.334733	0.11013	.	.	ENSG00000176547	ENST00000319856	T	0.35048	1.33	5.97	3.04	0.35103	.	0.188527	0.38217	N	0.001780	T	0.16385	0.0394	N	0.11106	0.095	0.19775	N	0.999952	B	0.02656	0.0	B	0.04013	0.001	T	0.13710	-1.0499	10	0.27785	T	0.31	.	5.3189	0.15870	0.2237:0.0:0.6333:0.143	.	296	Q8NH37	OR4C3_HUMAN	I	323	ENSP00000321419:M323I	ENSP00000321419:M323I	M	+	3	0	OR4C3	48304037	0.128000	0.22383	0.835000	0.33067	0.656000	0.38851	0.042000	0.13949	0.838000	0.34948	0.561000	0.74099	ATG		0.328	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		14	24	0	0	0	1	0	14	24				
CYP4B1	1580	broad.mit.edu	37	1	47279929	47279929	+	Missense_Mutation	SNP	G	G	A	rs45578838		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:47279929G>A	ENST00000271153.4	+	7	857	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R275Q|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R260Q|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R112Q			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	274			R -> Q (in dbSNP:rs45578838). {ECO:0000269|Ref.5}.		biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GAGAAGGTGCGGAAGAAGATC	0.572													g|||	1	0.000199681	0.0	0.0	5008	,	,		19552	0.001		0.0	False		,,,				2504	0.0					ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(820-822)cGg>cAg		cytochrome P450, family 4, subfamily B, polypeptide 1							80.0	81.0	81.0					1																	47279929		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279929G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.821G>A	1.37:g.47279929G>A	ENSP00000271153:p.Arg274Gln					CYP4B1_ENST00000371923.4_Missense_Mutation_p.R275Q|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R260Q|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R112Q	p.R274Q			P13584	CP4B1_HUMAN			7	857	+	Acute lymphoblastic leukemia(166;0.155)		274		R -> Q (in dbSNP:rs45578838).			Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.821G>A	CCDS542.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.188	-0.386007	0.04966	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.72615	-0.6;-0.53;-0.56;-0.67;0.66	5.58	-11.2	0.00127	.	1.575410	0.02920	N	0.137830	T	0.38585	0.1046	N	0.03324	-0.35	0.09310	N	1	B;B;B;B	0.12013	0.002;0.005;0.001;0.001	B;B;B;B	0.10450	0.003;0.005;0.002;0.003	T	0.18777	-1.0326	10	0.12766	T	0.61	.	8.4461	0.32843	0.5889:0.0:0.1709:0.2403	rs45578838	112;260;275;274	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	Q	275;274;260;112;111	ENSP00000360991:R275Q;ENSP00000271153:R274Q;ENSP00000360987:R260Q;ENSP00000400413:R112Q;ENSP00000437670:R111Q	ENSP00000271153:R274Q	R	+	2	0	CYP4B1	47052516	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-1.683000	0.01934	-2.032000	0.00926	-1.214000	0.01621	CGG		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		9	14	0	0	0	1	0	9	14				
TMEM178A	130733	broad.mit.edu	37	2	39893142	39893142	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:39893142C>T	ENST00000281961.2	+	1	84	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	AC007246.3_ENST00000415640.1_RNA|TMEM178A_ENST00000482239.1_Intron	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	10						integral component of membrane (GO:0016021)											CGTCACGGCGCTCAGCCTCGG	0.731																																						ENST00000281961.2																			0											c.(28-30)Ctc>Ttc		transmembrane protein 178A							6.0	7.0	7.0					2																	39893142		1955	4078	6033	SO:0001583	missense	130733							g.chr2:39893142C>T	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.28C>T	2.37:g.39893142C>T	ENSP00000281961:p.Leu10Phe					TMEM178A_ENST00000482239.1_Intron	p.L10F	NM_152390.2	NP_689603.2					1	84	+								Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.28C>T	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426733	0.43020	.	.	ENSG00000152154	ENST00000281961;ENST00000378734	T	0.45668	0.89	3.44	2.48	0.30137	.	0.511438	0.18334	N	0.144386	T	0.19208	0.0461	N	0.08118	0	0.27037	N	0.964109	P;P	0.37548	0.599;0.464	B;B	0.36885	0.235;0.083	T	0.09378	-1.0677	9	.	.	.	-2.2249	6.0262	0.19656	0.2039:0.4872:0.3089:0.0	.	10;10	Q8NBL3-2;Q8NBL3	.;TM178_HUMAN	F	10	ENSP00000281961:L10F	.	L	+	1	0	TMEM178	39746646	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.181000	0.32017	0.489000	0.27749	0.305000	0.20034	CTC		0.731	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		7	7	0	0	0	1	0	7	7				
ATP1B2	482	broad.mit.edu	37	17	7559196	7559196	+	Missense_Mutation	SNP	C	C	T	rs200828135		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr17:7559196C>T	ENST00000250111.4	+	7	1263	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	286	immunoglobulin-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.R286C(1)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTTCAAACTCCGCATCAACAA	0.602																																						ENST00000250111.4																			4	Whole gene deletion(2)|Substitution - Missense(1)|Unknown(1)	p.0?(2)|p.R286C(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10						c.(856-858)Cgc>Tgc		ATPase, Na+/K+ transporting, beta 2 polypeptide		C	CYS/ARG	0,4406		0,0,2203	62.0	56.0	58.0		856	3.7	1.0	17		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP1B2	NM_001678.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	286/291	7559196	1,13005	2203	4300	6503	SO:0001583	missense	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7559196C>T	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.856C>T	17.37:g.7559196C>T	ENSP00000250111:p.Arg286Cys						p.R286C	NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	7	1263	+		all_cancers(10;0.000178)|Prostate(122;0.081)	286					A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	c.856C>T	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123745	0.56613	0.0	1.16E-4	ENSG00000129244	ENST00000250111	T	0.32272	1.46	4.67	3.7	0.42460	.	0.057484	0.64402	D	0.000004	T	0.44286	0.1286	M	0.62723	1.935	0.53688	D	0.999974	D	0.76494	0.999	P	0.57846	0.828	T	0.39542	-0.9609	10	0.56958	D	0.05	2.3788	10.4258	0.44378	0.0:0.9043:0.0:0.0957	.	286	P14415	AT1B2_HUMAN	C	286	ENSP00000250111:R286C	ENSP00000250111:R286C	R	+	1	0	ATP1B2	7499921	1.000000	0.71417	0.999000	0.59377	0.402000	0.30811	2.839000	0.48207	1.182000	0.42928	0.313000	0.20887	CGC		0.602	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		6	2	0	0	0	1	0	6	2				
SYNE2	23224	broad.mit.edu	37	14	64690055	64690055	+	Missense_Mutation	SNP	G	G	A	rs202240664	byFrequency	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr14:64690055G>A	ENST00000344113.4	+	112	20482	c.20270G>A	c.(20269-20271)cGg>cAg	p.R6757Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.R6673Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3414Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R540Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R635Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6780Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R302Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.R3142Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3142Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R428Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6757					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R6780L(1)|p.R6780Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACAGTTACGGGAGCAAGTG	0.428													G|||	7	0.00139776	0.0	0.0	5008	,	,		21058	0.0		0.0	False		,,,				2504	0.0072					ENST00000357395.3																			2	Substitution - Missense(2)	p.R6780L(1)|p.R6780Q(1)	lung(1)|breast(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9424-9426)cGg>cAg		spectrin repeat containing, nuclear envelope 2							101.0	97.0	98.0					14																	64690055		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64690055G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20270G>A	14.37:g.64690055G>A	ENSP00000341781:p.Arg6757Gln					SYNE2_ENST00000554805.1_Missense_Mutation_p.R540Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6673Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R635Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3142Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6780Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6757Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R302Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3414Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R428Q	p.R3142Q			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	113	20569	+			6757					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9425G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	6.975	0.549952	0.13374	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	6.03	-0.508	0.11980	.	0.542979	0.15274	N	0.271063	T	0.18383	0.0441	N	0.16478	0.41	0.29458	N	0.857993	B;B;B;B;B;B;B;B	0.18968	0.005;0.0;0.0;0.001;0.004;0.032;0.006;0.022	B;B;B;B;B;B;B;B	0.15052	0.002;0.0;0.001;0.004;0.001;0.002;0.002;0.012	T	0.20075	-1.0286	10	0.24483	T	0.36	.	7.5204	0.27624	0.2722:0.0:0.3173:0.4105	.	414;3142;302;428;1159;6673;6757;6780	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	Q	6780;3142;6757;6673;6679;3414;3142;635;540;428;302	ENSP00000350719:R6780Q;ENSP00000349969:R3142Q;ENSP00000341781:R6757Q;ENSP00000452570:R6673Q;ENSP00000450831:R3414Q;ENSP00000378249:R3142Q;ENSP00000451009:R635Q;ENSP00000450605:R540Q;ENSP00000391937:R428Q;ENSP00000396794:R302Q	ENSP00000261678:R6679Q	R	+	2	0	SYNE2	63759808	0.061000	0.20836	0.026000	0.17262	0.110000	0.19582	0.696000	0.25541	-0.306000	0.08818	-2.671000	0.00144	CGG		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		26	34	0	0	0	1	0	26	34				
KMT2C	58508	broad.mit.edu	37	7	151877201	151877201	+	Nonsense_Mutation	SNP	A	A	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:151877201A>C	ENST00000262189.6	-	37	7378	c.7160T>G	c.(7159-7161)tTa>tGa	p.L2387*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.L2387*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2387					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GATTTCACGTAACTTCTGCCG	0.443																																						ENST00000355193.2																			0											c.(7159-7161)tTa>tGa		lysine (K)-specific methyltransferase 2C							169.0	157.0	161.0					7																	151877201		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151877201A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7160T>G	7.37:g.151877201A>C	ENSP00000262189:p.Leu2387*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.L2387*	p.L2387*							37	7378	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.7160T>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	49	16.001177	0.99851	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.5	5.5	0.81552	.	0.000000	0.32785	N	0.005646	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6026	0.76636	1.0:0.0:0.0:0.0	.	.	.	.	X	2387	.	ENSP00000262189:L2387X	L	-	2	0	MLL3	151508134	0.987000	0.35691	0.853000	0.33588	0.977000	0.68977	8.478000	0.90428	2.085000	0.62840	0.528000	0.53228	TTA		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			55	69	0	0	0	1	0	55	69				
CACNG2	10369	broad.mit.edu	37	22	36960758	36960758	+	Silent	SNP	C	C	T	rs190739501		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr22:36960758C>T	ENST00000300105.6	-	4	1593	c.612G>A	c.(610-612)cgG>cgA	p.R204R	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	204					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCTGTTTGTGCCGGTCGATAA	0.637																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(610-612)cgG>cgA		calcium channel, voltage-dependent, gamma subunit 2							97.0	113.0	107.0					22																	36960758		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960758C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.612G>A	22.37:g.36960758C>T							p.R204R	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1593	-			204					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.612G>A	CCDS13931.1																																																																																				0.637	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			4	165	0	0	0	1	0	4	165				
ASTN2	23245	broad.mit.edu	37	9	119903633	119903633	+	Silent	SNP	C	C	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr9:119903633C>G	ENST00000313400.4	-	4	1240	c.1140G>C	c.(1138-1140)ggG>ggC	p.G380G	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Silent_p.G380G			O75129	ASTN2_HUMAN	astrotactin 2	380					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCTTCCTCTTCCCTGCCGATG	0.577																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1138-1140)ggG>ggC		astrotactin 2							98.0	77.0	84.0					9																	119903633		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119903633C>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1140G>C	9.37:g.119903633C>G						ASTN2_ENST00000373996.3_Silent_p.G380G|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron	p.G380G			O75129	ASTN2_HUMAN			4	1240	-			380					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1140G>C																																																																																					0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		19	17	0	0	0	1	0	19	17				
ARHGAP31	57514	broad.mit.edu	37	3	119134361	119134361	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:119134361C>T	ENST00000264245.4	+	12	4117	c.3585C>T	c.(3583-3585)tgC>tgT	p.C1195C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1195					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCAAAATGTGCCAGGCCAGGG	0.587																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3583-3585)tgC>tgT		Rho GTPase activating protein 31							52.0	57.0	56.0					3																	119134361		2036	4190	6226	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134361C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3585C>T	3.37:g.119134361C>T							p.C1195C	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	4117	+			1195					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.3585C>T	CCDS43135.1																																																																																				0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			3	35	0	0	0	1	0	3	35				
ONECUT1	3175	broad.mit.edu	37	15	53081526	53081526	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:53081526C>T	ENST00000305901.5	-	1	683	c.556G>A	c.(556-558)Ggt>Agt	p.G186S	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	186					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTGCCCAGACCGGAGCTGGAG	0.667																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(556-558)Ggt>Agt		one cut homeobox 1							40.0	54.0	49.0					15																	53081526		2191	4290	6481	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081526C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.556G>A	15.37:g.53081526C>T	ENSP00000302630:p.Gly186Ser					ONECUT1_ENST00000561401.2_Intron	p.G186S	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	683	-			186					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.556G>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914273	0.52546	.	.	ENSG00000169856	ENST00000305901	T	0.52057	0.68	4.43	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.60929	-0.7165	10	0.34782	T	0.22	-5.8955	11.4805	0.50322	0.0:0.911:0.0:0.089	.	186	Q9UBC0	HNF6_HUMAN	S	186	ENSP00000302630:G186S	ENSP00000302630:G186S	G	-	1	0	ONECUT1	50868818	1.000000	0.71417	0.998000	0.56505	0.467000	0.32768	5.820000	0.69250	1.091000	0.41335	-0.172000	0.13284	GGT		0.667	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			27	32	0	0	0	1	0	27	32				
CD34	947	broad.mit.edu	37	1	208062058	208062058	+	Missense_Mutation	SNP	C	C	T	rs146542924		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:208062058C>T	ENST00000310833.7	-	7	1262	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000537704.1_Missense_Mutation_p.R179H|CD34_ENST00000356522.4_Missense_Mutation_p.R314H|CD34_ENST00000485761.1_5'UTR	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	314					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCAGCTGCGGCGATTCATCAG	0.562																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(940-942)cGc>cAc		CD34 molecule		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	201.0	218.0	212.0		941,941	4.5	1.0	1	dbSNP_134	212	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CD34	NM_001025109.1,NM_001773.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	314/386,314/329	208062058	1,13005	2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062058C>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.941G>A	1.37:g.208062058C>T	ENSP00000310036:p.Arg314His					CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.R179H	p.R314H	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			7	1262	-			314					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.941G>A	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605709	0.87157	0.0	1.16E-4	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.54	4.54	0.55810	.	0.125644	0.56097	D	0.000035	T	0.68247	0.2980	L	0.61036	1.89	0.49483	D	0.999791	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.71101	-0.4690	10	0.87932	D	0	-10.7555	13.0066	0.58707	0.0:1.0:0.0:0.0	.	179;314;314;156	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	H	314;314;156;179;284	ENSP00000310036:R314H;ENSP00000348916:R314H;ENSP00000356003:R156H;ENSP00000442874:R179H	ENSP00000310036:R314H	R	-	2	0	CD34	206128681	0.998000	0.40836	0.991000	0.47740	0.987000	0.75469	3.963000	0.56773	2.524000	0.85096	0.650000	0.86243	CGC		0.562	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		85	104	0	0	0	1	0	85	104				
RAB4A	5867	broad.mit.edu	37	1	229431652	229431652	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:229431652C>T	ENST00000366690.4	+	4	493	c.285C>T	c.(283-285)atC>atT	p.I95I	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	95					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TCTATGATATCACCAGGTAAT	0.562																																					Esophageal Squamous(11;250 603 9619 16563)	ENST00000366690.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(283-285)atC>atT		RAB4A, member RAS oncogene family							63.0	59.0	60.0					1																	229431652		2203	4300	6503	SO:0001819	synonymous_variant	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229431652C>T	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.285C>T	1.37:g.229431652C>T						RAB4A_ENST00000473894.1_3'UTR	p.I95I	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN			4	493	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	90					Q5T7P7|Q9BQ44	Silent	SNP	ENST00000366690.4	37	c.285C>T	CCDS31050.1																																																																																				0.562	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		16	25	0	0	0	1	0	16	25				
ISM2	145501	broad.mit.edu	37	14	77948909	77948909	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr14:77948909G>A	ENST00000342219.4	-	4	785	c.729C>T	c.(727-729)ccC>ccT	p.P243P	ISM2_ENST00000412904.1_Silent_p.P162P|ISM2_ENST00000429906.1_Silent_p.P162P|ISM2_ENST00000393684.3_Silent_p.P155P|ISM2_ENST00000493585.1_Intron	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	243						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACCAGAGGGCGGGCAGCCAGC	0.607																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(463-465)ccC>ccT		isthmin 2							81.0	89.0	87.0					14																	77948909		2203	4300	6503	SO:0001819	synonymous_variant	145501					extracellular region		g.chr14:77948909G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.729C>T	14.37:g.77948909G>A						ISM2_ENST00000493585.1_Intron|ISM2_ENST00000342219.4_Silent_p.P243P|ISM2_ENST00000412904.1_Silent_p.P162P|ISM2_ENST00000429906.1_Silent_p.P162P	p.P155P			Q6H9L7	ISM2_HUMAN			5	856	-			243					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	c.465C>T	CCDS9864.1																																																																																				0.607	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		27	37	0	0	0	1	0	27	37				
EYS	346007	broad.mit.edu	37	6	66115238	66115238	+	Silent	SNP	T	T	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr6:66115238T>G	ENST00000370621.3	-	6	1411	c.885A>C	c.(883-885)gcA>gcC	p.A295A	EYS_ENST00000370618.3_Silent_p.A295A|EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000503581.1_Silent_p.A295A|EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000393380.2_Silent_p.A295A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	295					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CACAAGGTTTTGCTGACACCT	0.363																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(883-885)gcA>gcC		eyes shut homolog (Drosophila)							120.0	124.0	123.0					6																	66115238		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115238T>G		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.885A>C	6.37:g.66115238T>G						EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000370621.3_Silent_p.A295A|EYS_ENST00000370618.3_Silent_p.A295A|EYS_ENST00000393380.2_Silent_p.A295A	p.A295A	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			6	1422	-			295					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.885A>C																																																																																					0.363	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		56	65	0	0	0	1	0	56	65				
DDX56	54606	broad.mit.edu	37	7	44611159	44611159	+	Silent	SNP	T	T	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:44611159T>C	ENST00000258772.5	-	6	928	c.822A>G	c.(820-822)ctA>ctG	p.L274L	DDX56_ENST00000431640.1_Silent_p.L274L|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	274	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AGAACAGGCGTAGCCGGTAAC	0.512																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(820-822)ctA>ctG		DEAD (Asp-Glu-Ala-Asp) box helicase 56							84.0	76.0	79.0					7																	44611159		2203	4300	6503	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44611159T>C	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.822A>G	7.37:g.44611159T>C						DDX56_ENST00000431640.1_Silent_p.L274L|DDX56_ENST00000485367.1_5'UTR	p.L274L	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			6	928	-			274			Helicase C-terminal.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.822A>G	CCDS5492.1																																																																																				0.512	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		17	35	0	0	0	1	0	17	35				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			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.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	71	0	0	0	1	0	6	71				
HECW1	23072	broad.mit.edu	37	7	43484655	43484655	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:43484655G>A	ENST00000395891.2	+	11	2489	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	HECW1_ENST00000453890.1_Silent_p.A628A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	628					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGGCACGGCGCACCCTGGCC	0.711																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1882-1884)gcG>gcA		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							8.0	13.0	11.0					7																	43484655		1969	4106	6075	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484655G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1884G>A	7.37:g.43484655G>A						HECW1_ENST00000453890.1_Silent_p.A628A	p.A628A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2489	+			628					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1884G>A	CCDS5469.2																																																																																				0.711	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		8	6	0	0	0	1	0	8	6				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			3	49	0	0	0	1	0	3	49				
KLHL20	27252	broad.mit.edu	37	1	173721044	173721044	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:173721044C>A	ENST00000209884.4	+	4	875	c.739C>A	c.(739-741)Cgt>Agt	p.R247S	KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	247	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCAGGAAAGACGTCCTCAATT	0.443																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(739-741)Cgt>Agt		kelch-like family member 20							86.0	78.0	81.0					1																	173721044		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173721044C>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.739C>A	1.37:g.173721044C>A	ENSP00000209884:p.Arg247Ser					KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S	p.R247S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			4	875	+			247			BACK.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.739C>A	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464570	0.63513	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.68479	-0.33;-0.33	5.38	4.46	0.54185	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.52011	1.625	0.80722	D	1	P;D	0.60575	0.902;0.988	P;P	0.58013	0.557;0.831	T	0.63585	-0.6604	10	0.38643	T	0.18	.	11.8165	0.52214	0.4363:0.5637:0.0:0.0	.	58;247	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	S	58;247	ENSP00000443121:R58S;ENSP00000209884:R247S	ENSP00000209884:R247S	R	+	1	0	KLHL20	171987667	0.999000	0.42202	0.998000	0.56505	0.996000	0.88848	0.938000	0.28965	1.231000	0.43661	0.591000	0.81541	CGT		0.443	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		13	26	1	0	0.00316338	1	0.00322307	13	26				
RPL3L	6123	broad.mit.edu	37	16	1997042	1997042	+	Missense_Mutation	SNP	C	C	T	rs149043671	byFrequency	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr16:1997042C>T	ENST00000268661.7	-	6	840	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	249					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCTTGCGCAGGCCCTT	0.672													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18625	0.0		0.0	False		,,,				2504	0.001					ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(745-747)cGc>cAc		ribosomal protein L3-like		C	HIS/ARG	3,4395	6.2+/-15.9	0,3,2196	55.0	58.0	57.0		746	4.0	1.0	16	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RPL3L	NM_005061.2	29	0,5,6494	TT,TC,CC		0.0233,0.0682,0.0385	possibly-damaging	249/408	1997042	5,12993	2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1997042C>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.746G>A	16.37:g.1997042C>T	ENSP00000268661:p.Arg249His						p.R249H	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN			6	840	-			249						Missense_Mutation	SNP	ENST00000268661.7	37	c.746G>A	CCDS10450.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.65	3.182570	0.57800	6.82E-4	2.33E-4	ENSG00000140986	ENST00000268661	T	0.56611	0.45	4.92	3.97	0.46021	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.85301	0.1073	10	0.87932	D	0	-17.0973	12.5964	0.56472	0.0:0.9191:0.0:0.0809	.	249	Q92901	RL3L_HUMAN	H	249	ENSP00000268661:R249H	ENSP00000268661:R249H	R	-	2	0	RPL3L	1937043	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.729000	0.84864	1.195000	0.43115	-0.136000	0.14681	CGC		0.672	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		24	33	0	0	0	1	0	24	33				
PCDHA2	56146	broad.mit.edu	37	5	140175878	140175878	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:140175878C>T	ENST00000526136.1	+	1	1329	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.I443I|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGTCCATCGAGGTGGCCG	0.652																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1327-1329)atC>atT									78.0	77.0	78.0					5																	140175878		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140175878C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1329C>T	5.37:g.140175878C>T						PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.I443I	p.I443I	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1329	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1329C>T	CCDS54914.1																																																																																				0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		35	35	0	0	0	1	0	35	35				
ZNF143	7702	broad.mit.edu	37	11	9500066	9500066	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:9500066G>A	ENST00000396602.2	+	6	622	c.503G>A	c.(502-504)gGt>gAt	p.G168D	ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	168					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACAGTGGCAGGTCTGCACACT	0.493																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(502-504)gGt>gAt		zinc finger protein 143							158.0	133.0	142.0					11																	9500066		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9500066G>A	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.503G>A	11.37:g.9500066G>A	ENSP00000379847:p.Gly168Asp					ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D	p.G168D	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	6	622	+			168					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.503G>A	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980608	0.18812	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000396597;ENST00000438144;ENST00000299606;ENST00000534265	T;T;T;T;T;T;T;T	0.40225	3.04;3.03;3.04;1.11;3.05;1.09;3.05;1.04	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	T	0.40886	0.1135	N	0.02802	-0.49	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.52881	-0.8516	9	.	.	.	.	18.3682	0.90398	0.0:0.0:1.0:0.0	.	137;167;168	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	D	167;168;167;136;137;168;140;168	ENSP00000379849:G167D;ENSP00000379847:G168D;ENSP00000432154:G167D;ENSP00000434922:G136D;ENSP00000379843:G137D;ENSP00000409432:G168D;ENSP00000299606:G140D;ENSP00000433743:G168D	.	G	+	2	0	ZNF143	9456642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.353000	0.79414	2.344000	0.79699	0.591000	0.81541	GGT		0.493	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		35	41	0	0	0	1	0	35	41				
EMILIN1	11117	broad.mit.edu	37	2	27305294	27305294	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:27305294C>T	ENST00000380320.4	+	4	1354	c.855C>T	c.(853-855)ggC>ggT	p.G285G		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	285					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ccccTCCGGGCCCCAGTGAGG	0.706																																						ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(853-855)ggC>ggT		elastin microfibril interfacer 1							6.0	7.0	7.0					2																	27305294		2081	4097	6178	SO:0001819	synonymous_variant	11117				cell adhesion	collagen		g.chr2:27305294C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.855C>T	2.37:g.27305294C>T							p.G285G	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			4	1354	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		285					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Silent	SNP	ENST00000380320.4	37	c.855C>T	CCDS1733.1																																																																																				0.706	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		3	3	0	0	0	1	0	3	3				
ACSBG1	23205	broad.mit.edu	37	15	78526789	78526789	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:78526789G>A	ENST00000258873.4	-	1	260	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	19					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCTGTCCAGCATGCTGGGG	0.562																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(55-57)Ctg>Ttg		acyl-CoA synthetase bubblegum family member 1							141.0	152.0	148.0					15																	78526789		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78526789G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.55C>T	15.37:g.78526789G>A						ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron	p.L19L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			1	260	-			19					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.55C>T	CCDS10298.1																																																																																				0.562	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		76	105	0	0	0	1	0	76	105				
CDH9	1007	broad.mit.edu	37	5	26902661	26902661	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:26902661C>A	ENST00000231021.4	-	7	1349	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACATCTTCATCTACTTCTATC	0.378																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1177-1179)Gat>Tat		cadherin 9, type 2 (T1-cadherin)							128.0	121.0	123.0					5																	26902661		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902661C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1177G>T	5.37:g.26902661C>A	ENSP00000231021:p.Asp393Tyr						p.D393Y	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			7	1349	-			393			Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1177G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	3.449	-0.112372	0.06881	.	.	ENSG00000113100	ENST00000231021	T	0.52295	0.67	5.62	4.7	0.59300	Cadherin (3);Cadherin-like (1);	0.268636	0.40064	N	0.001181	T	0.33556	0.0867	N	0.24115	0.695	0.50171	D	0.999852	B	0.02656	0.0	B	0.11329	0.006	T	0.08638	-1.0712	9	.	.	.	.	14.7549	0.69557	0.0:0.8547:0.1453:0.0	.	393	Q9ULB4	CADH9_HUMAN	Y	393	ENSP00000231021:D393Y	.	D	-	1	0	CDH9	26938418	0.311000	0.24536	0.976000	0.42696	0.931000	0.56810	0.746000	0.26275	2.648000	0.89879	0.650000	0.86243	GAT		0.378	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		5	70	1	0	0.00116845	1	0.00121339	5	70				
TRAF3IP2	10758	broad.mit.edu	37	6	111888871	111888871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr6:111888871G>A	ENST00000340026.6	-	7	1936	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	TRAF3IP2_ENST00000368761.5_Nonsense_Mutation_p.R439*|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000368735.1_5'Flank|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Nonsense_Mutation_p.R27*|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000359831.4_Nonsense_Mutation_p.R439*			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	448	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TCAATGCCTCGGATTCTATCC	0.388																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1315-1317)Cga>Tga		TRAF3 interacting protein 2							106.0	101.0	103.0					6																	111888871		2203	4300	6503	SO:0001587	stop_gained	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111888871G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1342C>T	6.37:g.111888871G>A	ENSP00000345984:p.Arg448*					TRAF3IP2_ENST00000340026.6_Nonsense_Mutation_p.R448*|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000359831.4_Nonsense_Mutation_p.R439*|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Nonsense_Mutation_p.R27*	p.R439*	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	6	1793	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	448			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Nonsense_Mutation	SNP	ENST00000340026.6	37	c.1315C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.301836	0.97458	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000392556;ENST00000340026;ENST00000359831	.	.	.	5.76	4.89	0.63831	.	0.068380	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7497	13.8112	0.63264	0.0:0.0:0.7209:0.2791	.	.	.	.	X	448;439;27;448;439	.	ENSP00000345984:R448X	R	-	1	2	TRAF3IP2	111995564	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.935000	0.48963	1.422000	0.47177	0.555000	0.69702	CGA		0.388	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			26	25	0	0	0	1	0	26	25				
TMPRSS11D	9407	broad.mit.edu	37	4	68692994	68692994	+	Missense_Mutation	SNP	C	C	T	rs370881465		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr4:68692994C>T	ENST00000283916.6	-	8	1035	c.937G>A	c.(937-939)Gct>Act	p.A313T	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A196T	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	313	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A313T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TATTCTTGAGCGCCCCATCCT	0.378																																						ENST00000283916.6																			1	Substitution - Missense(1)	p.A313T(1)	kidney(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(937-939)Gct>Act		transmembrane protease, serine 11D		C	THR/ALA	1,4405		0,1,2202	107.0	106.0	106.0		937	3.0	0.0	4		106	2,8596	2.2+/-6.3	0,2,4297	no	missense	TMPRSS11D	NM_004262.2	58	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	benign	313/419	68692994	3,13001	2203	4299	6502	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68692994C>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.937G>A	4.37:g.68692994C>T	ENSP00000283916:p.Ala313Thr					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A196T	p.A313T	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			8	1035	-			313			Peptidase S1.		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.937G>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065640	0.20067	2.27E-4	2.33E-4	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88124	-2.34;-2.34	5.38	2.99	0.34606	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.119039	0.38326	N	0.001729	T	0.66607	0.2806	N	0.12422	0.21	0.09310	N	1	P	0.48162	0.906	B	0.30716	0.119	T	0.60627	-0.7226	10	0.27785	T	0.31	.	7.1451	0.25579	0.6816:0.1897:0.0:0.1288	.	313	O60235	TM11D_HUMAN	T	313;196	ENSP00000283916:A313T;ENSP00000442045:A196T	ENSP00000283916:A313T	A	-	1	0	TMPRSS11D	68375589	0.952000	0.32445	0.012000	0.15200	0.002000	0.02628	1.927000	0.40094	0.446000	0.26666	-0.181000	0.13052	GCT		0.378	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		36	64	0	0	0	1	0	36	64				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	43	0	0	0	1	0	3	43				
EPAS1	2034	broad.mit.edu	37	2	46607543	46607543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:46607543delG	ENST00000263734.3	+	12	2242	c.1732delG	c.(1732-1734)gccfs	p.A578fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	578					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCCCTGTAGCCCCGCACAG	0.607																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1732-1734)ccfs		endothelial PAS domain protein 1							66.0	76.0	73.0					2																	46607543		2203	4300	6503	SO:0001589	frameshift_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607543delG	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1732delG	2.37:g.46607543delG	ENSP00000263734:p.Ala578fs						p.A578fs	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2242	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	578					Q86VA2|Q99630	Frame_Shift_Del	DEL	ENST00000263734.3	37	c.1732delG	CCDS1825.1																																																																																				0.607	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		18	23						18	23	---	---	---	---
BZW1	9689	broad.mit.edu	37	2	201684815	201684815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:201684815delC	ENST00000409600.1	+	10	1532	c.1077delC	c.(1075-1077)ttcfs	p.F359fs	BZW1_ENST00000452790.2_Frame_Shift_Del_p.F391fs|BZW1_ENST00000409226.1_Frame_Shift_Del_p.F363fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	359	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGAAAGCCTTCCAGAAAATAG	0.318																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(1075-1077)ttfs		basic leucine zipper and W2 domains 1							32.0	27.0	29.0					2																	201684815		1795	4059	5854	SO:0001589	frameshift_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201684815delC	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.1077delC	2.37:g.201684815delC	ENSP00000386474:p.Phe359fs					BZW1_ENST00000409226.1_Frame_Shift_Del_p.F363fs|BZW1_ENST00000452790.2_Frame_Shift_Del_p.F391fs	p.F359fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			10	1532	+			359			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Frame_Shift_Del	DEL	ENST00000409600.1	37	c.1077delC	CCDS56156.1																																																																																				0.318	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		2	4						2	4	---	---	---	---
FAM111A	63901	broad.mit.edu	37	11	58920573	58920574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:58920573_58920574insA	ENST00000528737.1	+	5	4250_4251	c.1432_1433insA	c.(1432-1434)gaafs	p.E478fs	FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.E478fs			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	478	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCCATATGGAGAAAAAAAGCAG	0.406																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1432-1434)aaafs		family with sequence similarity 111, member A																																				SO:0001589	frameshift_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920573_58920574insA	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1439dupA	11.37:g.58920580_58920580dupA	ENSP00000434435:p.Glu478fs					FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.K478fs	p.K478fs			Q96PZ2	F111A_HUMAN			5	4250_4251	+		all_epithelial(135;0.139)	478					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Frame_Shift_Ins	INS	ENST00000528737.1	37	c.1432_1433insA	CCDS7973.1																																																																																				0.406	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		24	50						24	50	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578555	7578556	+	Splice_Site	DEL	CT	CT	-			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr17:7578555_7578556delCT	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(72)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGAG	0.554		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		84	Unknown(72)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(72)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|ovary(13)|breast(11)|pancreas(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|oesophagus(5)|bone(5)|liver(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5-1	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555_7578556delCT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1AG>-	17.37:g.7578555_7578556delCT		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DEL	ENST00000269305.4	37		CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	6	5						6	5	---	---	---	---
