#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
LRP3	4037	broad.mit.edu	37	19	33687683	33687683	+	Splice_Site	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:33687683G>C	ENST00000253193.7	+	2	323	c.121G>C	c.(121-123)Gcg>Ccg	p.A41P		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	41					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TCCTGCCTTAGGTAAGTAAGC	0.552																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.e2+1		low density lipoprotein receptor-related protein 3							211.0	169.0	183.0					19																	33687683		2203	4300	6503	SO:0001630	splice_region_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33687683G>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.121+1G>C	19.37:g.33687683G>C						LRP3_ENST00000592484.1_3'UTR	p.A41_splice	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			2	323	+	Esophageal squamous(110;0.137)		41					B3KQD6|B4DKF2	Splice_Site	SNP	ENST00000253193.7	37	c.121_splice	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053444	0.75960	.	.	ENSG00000130881	ENST00000253193	D	0.87887	-2.31	4.38	4.38	0.52667	CUB (1);	0.131508	0.50627	D	0.000114	D	0.82715	0.5097	N	0.08118	0	0.80722	D	1	D	0.61697	0.99	P	0.56398	0.797	D	0.85719	0.1324	10	0.62326	D	0.03	-18.0146	12.4446	0.55643	0.0:0.0:1.0:0.0	.	41	O75074	LRP3_HUMAN	P	41	ENSP00000253193:A41P	ENSP00000253193:A41P	A	+	1	0	LRP3	38379523	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	5.533000	0.67160	1.982000	0.57802	0.561000	0.74099	GCG		0.552	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		Missense_Mutation	35	55	0	0	0	1	0	35	55				
KIAA1683	80726	broad.mit.edu	37	19	18376865	18376865	+	Silent	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:18376865G>C	ENST00000600328.3	-	3	1678	c.1485C>G	c.(1483-1485)acC>acG	p.T495T	KIAA1683_ENST00000600359.3_Silent_p.T449T|KIAA1683_ENST00000392413.4_Silent_p.T495T			Q9H0B3	K1683_HUMAN	KIAA1683	495						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGCAGGCGGGTCTGGGGTG	0.572																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1483-1485)acC>acG		KIAA1683							65.0	66.0	65.0					19																	18376865		2203	4300	6503	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18376865G>C	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1485C>G	19.37:g.18376865G>C						KIAA1683_ENST00000600328.2_Silent_p.T495T|KIAA1683_ENST00000600359.2_Silent_p.T449T	p.T495T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	1700	-			495					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.1485C>G	CCDS32958.1																																																																																				0.572	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			100	56	0	0	0	1	0	100	56				
PAK4	10298	broad.mit.edu	37	19	39660328	39660328	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:39660328G>C	ENST00000593690.1	+	4	562	c.135G>C	c.(133-135)gaG>gaC	p.E45D	PAK4_ENST00000321944.4_Missense_Mutation_p.E45D|PAK4_ENST00000599386.1_Missense_Mutation_p.E45D|PAK4_ENST00000360442.3_Missense_Mutation_p.E45D|PAK4_ENST00000599470.1_Missense_Mutation_p.E45D|PAK4_ENST00000435673.2_Missense_Mutation_p.E45D|PAK4_ENST00000358301.3_Missense_Mutation_p.E45D	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	45	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TGATCGAGGAGTCGGCTCGCC	0.706																																						ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(133-135)gaG>gaC		p21 protein (Cdc42/Rac)-activated kinase 4							33.0	37.0	36.0					19																	39660328		2201	4298	6499	SO:0001583	missense	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39660328G>C	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.135G>C	19.37:g.39660328G>C	ENSP00000469413:p.Glu45Asp					PAK4_ENST00000360442.3_Missense_Mutation_p.E45D|PAK4_ENST00000358301.3_Missense_Mutation_p.E45D|PAK4_ENST00000321944.4_Missense_Mutation_p.E45D|PAK4_ENST00000593690.1_Missense_Mutation_p.E45D|PAK4_ENST00000599470.1_Missense_Mutation_p.E45D|PAK4_ENST00000435673.2_Missense_Mutation_p.E45D	p.E45D	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		3	316	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		45			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.135G>C	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980114	0.34942	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000435673;ENST00000360442	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	3.83	2.74	0.32292	PAK-box/P21-Rho-binding (2);	0.068787	0.56097	D	0.000025	T	0.71508	0.3348	N	0.05510	-0.035	0.32838	D	0.505018	B;B;B	0.22276	0.067;0.001;0.001	B;B;B	0.32342	0.144;0.003;0.004	T	0.71547	-0.4560	10	0.40728	T	0.16	.	9.8016	0.40768	0.1069:0.0:0.8931:0.0	.	45;45;45	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	D	45	ENSP00000351049:E45D;ENSP00000326864:E45D;ENSP00000392753:E45D;ENSP00000353625:E45D	ENSP00000326864:E45D	E	+	3	2	PAK4	44352168	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.336000	0.33850	0.903000	0.36546	0.550000	0.68814	GAG		0.706	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			28	9	0	0	0	1	0	28	9				
UBA1	7317	broad.mit.edu	37	X	47060923	47060923	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:47060923T>C	ENST00000335972.6	+	8	908	c.725T>C	c.(724-726)tTt>tCt	p.F242S	UBA1_ENST00000377351.4_Missense_Mutation_p.F242S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	242	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CGACACGGGTTTGAGAGCGGG	0.547																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(724-726)tTt>tCt		ubiquitin-like modifier activating enzyme 1							37.0	32.0	33.0					X																	47060923		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47060923T>C	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.725T>C	X.37:g.47060923T>C	ENSP00000338413:p.Phe242Ser					UBA1_ENST00000377351.4_Missense_Mutation_p.F242S	p.F242S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			8	908	+			242			2 approximate repeats.		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.725T>C	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591141	0.66219	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000442035;ENST00000335972	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.74	4.74	0.60224	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.92923	3.36	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.72676	-0.4221	10	0.87932	D	0	-15.6029	12.5211	0.56060	0.0:0.0:0.0:1.0	.	242	P22314	UBA1_HUMAN	S	242;242;256;242	ENSP00000366568:F242S;ENSP00000415033:F242S;ENSP00000389583:F256S;ENSP00000338413:F242S	ENSP00000338413:F242S	F	+	2	0	UBA1	46945867	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.770000	0.85390	1.871000	0.54225	0.414000	0.27820	TTT		0.547	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		11	31	0	0	0	1	0	11	31				
CREB5	9586	broad.mit.edu	37	7	28610154	28610154	+	Splice_Site	SNP	G	G	C	rs573930655		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:28610154G>C	ENST00000357727.2	+	5	853	c.463G>C	c.(463-465)Ggg>Cgg	p.G155R	CREB5_ENST00000409603.1_Splice_Site_p.G122R|CREB5_ENST00000396299.2_Splice_Site_p.G122R|CREB5_ENST00000396300.2_Splice_Site_p.G148R	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	155					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CCGCCAGATCGGGTAAGGAGC	0.572																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.e5+1		cAMP responsive element binding protein 5							79.0	71.0	74.0					7																	28610154		2203	4300	6503	SO:0001630	splice_region_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28610154G>C	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.464+1G>C	7.37:g.28610154G>C						CREB5_ENST00000409603.1_Splice_Site_p.G122_splice|CREB5_ENST00000396299.2_Splice_Site_p.G122_splice|CREB5_ENST00000396300.2_Splice_Site_p.G148_splice	p.G155_splice	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN			5	853	+			155					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Splice_Site	SNP	ENST00000357727.2	37	c.464_splice	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320378	0.41096	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T	0.65916	-0.18;-0.17;-0.17;-0.18	5.45	5.45	0.79879	.	0.093819	0.64402	N	0.000001	T	0.78792	0.4339	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75728	-0.3216	10	0.32370	T	0.25	-14.9604	19.2936	0.94112	0.0:0.0:1.0:0.0	.	155	Q02930	CREB5_HUMAN	R	122;155;148;122	ENSP00000379593:G122R;ENSP00000350359:G155R;ENSP00000379594:G148R;ENSP00000387197:G122R	ENSP00000350359:G155R	G	+	1	0	CREB5	28576679	1.000000	0.71417	0.981000	0.43875	0.715000	0.41141	9.110000	0.94302	2.583000	0.87209	0.650000	0.86243	GGG		0.572	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904	Missense_Mutation	40	22	0	0	0	1	0	40	22				
MGAM	8972	broad.mit.edu	37	7	141756660	141756660	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:141756660C>T	ENST00000549489.2	+	30	3706	c.3611C>T	c.(3610-3612)aCa>aTa	p.T1204I	MGAM_ENST00000475668.2_Missense_Mutation_p.T1204I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1204	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGCCTTGACATACCGCACC	0.517																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3610-3612)aCa>aTa		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						83.0	81.0	81.0					7																	141756660		1954	4155	6109	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141756660C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3611C>T	7.37:g.141756660C>T	ENSP00000447378:p.Thr1204Ile					MGAM_ENST00000549489.2_Missense_Mutation_p.T1204I	p.T1204I			O43451	MGA_HUMAN			30	3665	+	Melanoma(164;0.0272)		1204			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3611C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.588013	0.66105	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.86164	-2.08	4.17	4.17	0.49024	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.37095	N	0.002247	D	0.93625	0.7964	M	0.84683	2.71	0.48288	D	0.999624	D	0.76494	0.999	D	0.77004	0.989	D	0.94820	0.7986	10	0.87932	D	0	.	15.2099	0.73214	0.0:1.0:0.0:0.0	.	1204	O43451	MGA_HUMAN	I	1204;1204;1081	ENSP00000447378:T1204I	ENSP00000316431:T1081I	T	+	2	0	MGAM	141403129	1.000000	0.71417	0.965000	0.40720	0.603000	0.37013	7.716000	0.84723	1.857000	0.53885	0.313000	0.20887	ACA		0.517	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			9	28	0	0	0	1	0	9	28				
TNRC6C	57690	broad.mit.edu	37	17	76045946	76045946	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr17:76045946G>A	ENST00000588061.1	+	5	1530	c.803G>A	c.(802-804)gGg>gAg	p.G268E	TNRC6C_ENST00000541771.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G268E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000335749.4_Missense_Mutation_p.G268E			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	268	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTCAGTCAGGGGAATGGAGAC	0.493																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(802-804)gGg>gAg		trinucleotide repeat containing 6C							65.0	65.0	65.0					17																	76045946		1968	4163	6131	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76045946G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.803G>A	17.37:g.76045946G>A	ENSP00000468647:p.Gly268Glu					TNRC6C_ENST00000301624.4_Missense_Mutation_p.G268E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G268E	p.G268E	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	1372	+			268			Gly-rich.|Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.803G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891255	0.33442	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.13778	2.57;2.56;2.56;2.57	5.36	5.36	0.76844	.	0.319423	0.33650	N	0.004693	T	0.10680	0.0261	N	0.22421	0.69	0.46901	D	0.999246	B;B;B	0.27997	0.197;0.082;0.125	B;B;B	0.30716	0.119;0.039;0.056	T	0.18618	-1.0331	10	0.30854	T	0.27	-11.5365	12.5715	0.56339	0.0752:0.0:0.9248:0.0	.	268;268;268	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	E	268	ENSP00000336783:G268E;ENSP00000301624:G268E;ENSP00000440310:G268E;ENSP00000442421:G268E	ENSP00000301624:G268E	G	+	2	0	TNRC6C	73557541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.978000	0.56881	2.782000	0.95742	0.655000	0.94253	GGG		0.493	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		30	115	0	0	0	1	0	30	115				
OTOGL	283310	broad.mit.edu	37	12	80660253	80660253	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr12:80660253G>A	ENST00000547103.1	+	20	2226	c.2220G>A	c.(2218-2220)atG>atA	p.M740I	OTOGL_ENST00000458043.2_Missense_Mutation_p.M740I			Q3ZCN5	OTOGL_HUMAN	otogelin-like	740	TIL 2.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAAGGGCATGCTGTACCATC	0.483																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(2218-2220)atG>atA		otogelin-like							112.0	110.0	111.0					12																	80660253		2100	4230	6330	SO:0001583	missense	283310							g.chr12:80660253G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2220G>A	12.37:g.80660253G>A	ENSP00000447211:p.Met740Ile					OTOGL_ENST00000547103.1_Missense_Mutation_p.M740I	p.M740I	NM_173591.3	NP_775862.3					20	2226	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.2220G>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.274529	0.80580	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.90620	-2.7;-2.7	5.78	5.78	0.91487	.	.	.	.	.	D	0.95940	0.8678	M	0.88377	2.95	0.58432	D	0.999999	.	.	.	.	.	.	D	0.95218	0.8331	7	0.45353	T	0.12	.	19.9987	0.97401	0.0:0.0:1.0:0.0	.	.	.	.	I	740	ENSP00000447211:M740I;ENSP00000400895:M740I	ENSP00000400895:M740I	M	+	3	0	OTOGL	79184384	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.094000	0.94168	2.738000	0.93877	0.591000	0.81541	ATG		0.483	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		4	22	0	0	0	1	0	4	22				
DNMT3B	1789	broad.mit.edu	37	20	31381340	31381340	+	Splice_Site	SNP	A	A	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr20:31381340A>G	ENST00000328111.2	+	10	1387		c.e10-1		DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000353855.2_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta						C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						tcccctcaaaagtggttaata	0.388																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e10-1		DNA (cytosine-5-)-methyltransferase 3 beta							123.0	105.0	111.0					20																	31381340		2203	4300	6503	SO:0001630	splice_region_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31381340A>G		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1067-1A>G	20.37:g.31381340A>G						DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000353855.2_Intron|DNMT3B_ENST00000443239.3_Intron		NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			10	1387	+								A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Splice_Site	SNP	ENST00000328111.2	37		CCDS13205.1																																																																																				0.388	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	Intron	14	21	0	0	0	1	0	14	21				
RS1	6247	broad.mit.edu	37	X	18660259	18660259	+	Silent	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:18660259C>T	ENST00000379984.3	-	6	580	c.540G>A	c.(538-540)tcG>tcA	p.S180S	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	180	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGGTGCGGTCCGAGTTGCCAT	0.587																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(538-540)tcG>tcA		retinoschisin 1							80.0	70.0	73.0					X																	18660259		2203	4300	6503	SO:0001819	synonymous_variant	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18660259C>T	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.540G>A	X.37:g.18660259C>T						CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	p.S180S	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			6	580	-	Hepatocellular(33;0.183)		180			F5/8 type C.		Q0QD39	Silent	SNP	ENST00000379984.3	37	c.540G>A	CCDS14187.1																																																																																				0.587	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			48	40	0	0	0	1	0	48	40				
MT-ND5	4540	broad.mit.edu	37	M	12769	12769	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrM:12769G>C	ENST00000361567.2	+	1	433	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	145			E -> G (in MELAS). {ECO:0000269|PubMed:12509858}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TCATCGGCTGAGAGGGCGTAG	0.418																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(433-435)Gag>Cag		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12769G>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.433G>C	M.37:g.12769G>C	ENSP00000354813:p.Glu145Gln						p.E145Q			P03915	NU5M_HUMAN			1	433	+			145		E -> G (in MELAS).			Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.433G>C																																																																																					0.418	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		36	111	0	0	0	1	0	36	111				
BTN3A3	10384	broad.mit.edu	37	6	26448652	26448652	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr6:26448652A>G	ENST00000244519.2	+	6	1135	c.892A>G	c.(892-894)Aca>Gca	p.T298A	BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256A|BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256A	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	298					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATACGCTGCAACAGAGCAAGA	0.498																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(892-894)Aca>Gca		butyrophilin, subfamily 3, member A3							70.0	74.0	73.0					6																	26448652		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26448652A>G	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.892A>G	6.37:g.26448652A>G	ENSP00000244519:p.Thr298Ala					BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256A|BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256A	p.T298A	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			6	1135	+			298					B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.892A>G	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.622505	0.00820	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.36340	1.33;1.26;1.26	1.42	0.148	0.14843	.	.	.	.	.	T	0.03520	0.0101	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.41645	-0.9497	9	0.15066	T	0.55	.	1.5211	0.02516	0.4914:0.0:0.2005:0.3081	.	256;298	E9PCP5;O00478	.;BT3A3_HUMAN	A	298;256;256	ENSP00000244519:T298A;ENSP00000344968:T256A;ENSP00000355238:T256A	ENSP00000244519:T298A	T	+	1	0	BTN3A3	26556631	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.001000	0.12947	0.027000	0.15297	-0.757000	0.03467	ACA		0.498	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		23	39	0	0	0	1	0	23	39				
LOC100996701	100996701	broad.mit.edu	37	12	131781266	131781266	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr12:131781266A>G	ENST00000598023.1	+	1	1200	c.326A>G	c.(325-327)aAg>aGg	p.K109R	RNA5SP376_ENST00000390949.1_RNA|RP11-495K9.3_ENST00000508505.2_lincRNA																							AGCTGTGGGAAGGGGAAGCAT	0.662																																						ENST00000598023.1																			0											c.(325-327)aAg>aGg																																						SO:0001583	missense	0							g.chr12:131781266A>G																												ENST00000598023.1:c.326A>G	12.37:g.131781266A>G	ENSP00000470546:p.Lys109Arg					RP11-495K9.3_ENST00000508505.2_lincRNA	p.K109R							1	1200	+									Missense_Mutation	SNP	ENST00000598023.1	37	c.326A>G																																																																																					0.662	AC092850.1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	5	0	0	0	1	0	3	5				
LIG4	3981	broad.mit.edu	37	13	108861426	108861426	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr13:108861426T>C	ENST00000356922.4	-	2	2463	c.2191A>G	c.(2191-2193)Aag>Gag	p.K731E	LIG4_ENST00000405925.1_Missense_Mutation_p.K731E|LIG4_ENST00000442234.1_Missense_Mutation_p.K731E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	731	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTTTTGGTCTTAAAACATTCT	0.383								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2191-2193)Aag>Gag	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							75.0	71.0	72.0					13																	108861426		2203	4299	6502	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861426T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2191A>G	13.37:g.108861426T>C	ENSP00000349393:p.Lys731Glu					LIG4_ENST00000405925.1_Missense_Mutation_p.K731E|LIG4_ENST00000442234.1_Missense_Mutation_p.K731E	p.K731E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2463	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		731			BRCT 1.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2191A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	1.030	-0.682057	0.03353	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.11495	2.77;2.77;2.77	5.83	-2.51	0.06365	BRCT (3);	0.567187	0.19841	N	0.104851	T	0.03095	0.0091	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43734	-0.9373	10	0.06365	T	0.9	.	7.3281	0.26567	0.0:0.3507:0.3939:0.2555	.	731	P49917	DNLI4_HUMAN	E	731	ENSP00000385955:K731E;ENSP00000402030:K731E;ENSP00000349393:K731E	ENSP00000349393:K731E	K	-	1	0	LIG4	107659427	0.574000	0.26684	0.066000	0.19879	0.969000	0.65631	0.408000	0.21065	-0.364000	0.08088	0.440000	0.28878	AAG		0.383	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		26	45	0	0	0	1	0	26	45				
NPM1	4869	broad.mit.edu	37	5	170819814	170819814	+	Silent	SNP	T	T	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:170819814T>A	ENST00000296930.5	+	5	754	c.453T>A	c.(451-453)gtT>gtA	p.V151V	NPM1_ENST00000517671.1_Silent_p.V151V|NPM1_ENST00000393820.2_Silent_p.V151V|NPM1_ENST00000351986.6_Silent_p.V151V	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	151	Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTAGCAAGGTTCCACAGGTAG	0.408			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	ENST00000296930.5				Dom	yes		5	5q35	4869	"""T, F """	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	"""ALK, RARA, MLF1"""		"""NHL, APL, AML"""	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.(451-453)gtT>gtA		nucleophosmin (nucleolar phosphoprotein B23, numatrin)							142.0	168.0	159.0					5																	170819814		2202	4300	6502	SO:0001819	synonymous_variant	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170819814T>A	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.453T>A	5.37:g.170819814T>A						NPM1_ENST00000393820.2_Silent_p.V151V|NPM1_ENST00000351986.6_Silent_p.V151V|NPM1_ENST00000517671.1_Silent_p.V151V	p.V151V	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	754	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	151			Required for interaction with SENP3.		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Silent	SNP	ENST00000296930.5	37	c.453T>A	CCDS4376.1																																																																																				0.408	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		37	64	0	0	0	1	0	37	64				
CREBRF	153222	broad.mit.edu	37	5	172513552	172513552	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:172513552C>G	ENST00000296953.2	+	3	377	c.58C>G	c.(58-60)Cac>Gac	p.H20D	CREBRF_ENST00000520420.1_Missense_Mutation_p.H20D|CREBRF_ENST00000522692.1_Missense_Mutation_p.H20D|CREBRF_ENST00000540014.1_Missense_Mutation_p.H20D	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	20					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTTCGAAGCCACACCTTTTC	0.408																																						ENST00000540014.1																			0											c.(58-60)Cac>Gac		CREB3 regulatory factor							150.0	140.0	143.0					5																	172513552		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172513552C>G	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.58C>G	5.37:g.172513552C>G	ENSP00000296953:p.His20Asp					CREBRF_ENST00000520420.1_Missense_Mutation_p.H20D|CREBRF_ENST00000296953.2_Missense_Mutation_p.H20D|CREBRF_ENST00000522692.1_Missense_Mutation_p.H20D	p.H20D			Q8IUR6	CE041_HUMAN			3	377	+			20					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.58C>G	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377604	0.42105	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000523161;ENST00000538538;ENST00000393776	T;T	0.44083	0.93;0.93	5.77	5.77	0.91146	.	0.099522	0.64402	D	0.000001	T	0.34395	0.0896	N	0.14661	0.345	0.48288	D	0.999629	P;P	0.35982	0.531;0.531	B;B	0.38500	0.106;0.275	T	0.13926	-1.0491	10	0.45353	T	0.12	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	20;20	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	D	20	ENSP00000296953:H20D;ENSP00000440075:H20D	ENSP00000296953:H20D	H	+	1	0	C5orf41	172446158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.314000	0.65804	2.885000	0.99019	0.655000	0.94253	CAC		0.408	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		50	27	0	0	0	1	0	50	27				
TBXAS1	6916	broad.mit.edu	37	7	139715631	139715631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:139715631G>A	ENST00000336425.5	+	15	1724	c.1335G>A	c.(1333-1335)tgG>tgA	p.W445*	TBXAS1_ENST00000436047.2_Nonsense_Mutation_p.W446*|TBXAS1_ENST00000448866.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000414508.2_Nonsense_Mutation_p.W446*|TBXAS1_ENST00000458722.1_Nonsense_Mutation_p.W491*|TBXAS1_ENST00000263552.6_Nonsense_Mutation_p.W446*|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Nonsense_Mutation_p.W378*|TBXAS1_ENST00000411653.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000416849.2_Nonsense_Mutation_p.W492*			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	445					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CTGAGCACTGGCCAAGCCCGG	0.597																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1336-1338)tgG>tgA		thromboxane A synthase 1 (platelet)							55.0	54.0	54.0					7																	139715631		2203	4300	6503	SO:0001587	stop_gained	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139715631G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1335G>A	7.37:g.139715631G>A	ENSP00000338087:p.Trp445*					TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Nonsense_Mutation_p.W492*|TBXAS1_ENST00000425687.1_Nonsense_Mutation_p.W378*|TBXAS1_ENST00000458722.1_Nonsense_Mutation_p.W491*|TBXAS1_ENST00000448866.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000336425.5_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000414508.2_Nonsense_Mutation_p.W446*|TBXAS1_ENST00000411653.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000436047.2_Nonsense_Mutation_p.W446*	p.W446*	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			15	1876	+	Melanoma(164;0.0142)		445					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Nonsense_Mutation	SNP	ENST00000336425.5	37	c.1338G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.358160	0.97502	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0207	0.71630	0.0:0.0:1.0:0.0	.	.	.	.	X	378;446;445;492;446;446;445;491;445	.	ENSP00000263552:W446X	W	+	3	0	TBXAS1	139362100	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	8.057000	0.89457	2.061000	0.61500	0.462000	0.41574	TGG		0.597	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			19	43	0	0	0	1	0	19	43				
ROCK2	9475	broad.mit.edu	37	2	11426743	11426743	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:11426743G>C	ENST00000315872.6	-	3	694	c.246C>G	c.(244-246)atC>atG	p.I82M	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	82					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTAGACCTCTGATTTTTTTCA	0.279																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(244-246)atC>atG		Rho-associated, coiled-coil containing protein kinase 2							181.0	167.0	171.0					2																	11426743		1818	4084	5902	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11426743G>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.246C>G	2.37:g.11426743G>C	ENSP00000317985:p.Ile82Met					ROCK2_ENST00000462366.1_5'UTR	p.I82M	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	3	694	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		82					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.246C>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714074	0.30413	.	.	ENSG00000134318	ENST00000315872	T	0.64085	-0.08	4.61	1.75	0.24633	Protein kinase-like domain (1);	0.119410	0.53938	D	0.000041	T	0.57784	0.2077	M	0.67700	2.07	0.39739	D	0.971729	B	0.16802	0.019	B	0.21917	0.037	T	0.58747	-0.7582	10	0.62326	D	0.03	.	9.8226	0.40891	0.2538:0.0:0.7462:0.0	.	82	O75116	ROCK2_HUMAN	M	82	ENSP00000317985:I82M	ENSP00000261535:I82M	I	-	3	3	ROCK2	11344194	0.915000	0.31059	1.000000	0.80357	0.995000	0.86356	-0.018000	0.12568	0.494000	0.27859	-0.136000	0.14681	ATC		0.279	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			42	196	0	0	0	1	0	42	196				
DZIP3	9666	broad.mit.edu	37	3	108373036	108373036	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr3:108373036C>A	ENST00000361582.3	+	19	2308	c.2078C>A	c.(2077-2079)gCa>gAa	p.A693E	DZIP3_ENST00000463306.1_Missense_Mutation_p.A693E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	693					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAAGAACAAGCAAATCCACAC	0.373																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2077-2079)gCa>gAa		DAZ interacting zinc finger protein 3							148.0	130.0	136.0					3																	108373036		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108373036C>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2078C>A	3.37:g.108373036C>A	ENSP00000355028:p.Ala693Glu					DZIP3_ENST00000463306.1_Missense_Mutation_p.A693E	p.A693E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			19	2308	+			693					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2078C>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	8.126	0.781979	0.16189	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.30182	1.54;1.54	4.81	-4.14	0.03892	.	1.626760	0.03459	N	0.211999	T	0.15869	0.0382	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19128	-1.0315	10	0.02654	T	1	0.4939	0.4428	0.00489	0.2614:0.1864:0.1562:0.396	.	311;693	D3DN61;Q86Y13	.;DZIP3_HUMAN	E	693	ENSP00000355028:A693E;ENSP00000419981:A693E	ENSP00000355028:A693E	A	+	2	0	DZIP3	109855726	0.011000	0.17503	0.009000	0.14445	0.775000	0.43874	-1.083000	0.03397	-0.691000	0.05135	0.585000	0.79938	GCA		0.373	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		36	59	1	0	6.05902e-23	1	7.2283e-23	36	59				
LILRB5	10990	broad.mit.edu	37	19	54760423	54760423	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:54760423C>T	ENST00000316219.5	-	3	391	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB5_ENST00000450632.1_Missense_Mutation_p.R95Q|LILRB5_ENST00000449561.2_Missense_Mutation_p.R95Q|LILRB5_ENST00000345866.6_Missense_Mutation_p.R95Q	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	95	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCAGCGGTATCGCCCTGCACT	0.627																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(283-285)cGa>cAa		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							204.0	194.0	198.0					19																	54760423		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760423C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.284G>A	19.37:g.54760423C>T	ENSP00000320390:p.Arg95Gln					LILRB5_ENST00000449561.2_Missense_Mutation_p.R95Q|LILRB5_ENST00000316219.5_Missense_Mutation_p.R95Q|LILRB5_ENST00000345866.6_Missense_Mutation_p.R95Q	p.R95Q			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	361	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		95			Ig-like C2-type 1.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.284G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577711	0.45902	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	3.29	-6.58	0.01836	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.602610	0.04238	N	0.336390	T	0.12518	0.0304	N	0.26162	0.8	0.09310	N	1	D;D;P;D;D	0.67145	0.996;0.993;0.945;0.991;0.992	P;P;B;B;P	0.55713	0.626;0.558;0.074;0.421;0.782	T	0.19128	-1.0315	10	0.25106	T	0.35	.	2.3099	0.04184	0.1413:0.4069:0.284:0.1679	.	95;86;95;95;95	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	Q	95	ENSP00000320390:R95Q;ENSP00000414225:R95Q;ENSP00000406478:R95Q;ENSP00000263430:R95Q	ENSP00000320390:R95Q	R	-	2	0	LILRB5	59452235	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.803000	0.00362	-1.693000	0.01427	-1.588000	0.00846	CGA		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			111	135	0	0	0	1	0	111	135				
GPR45	11250	broad.mit.edu	37	2	105859066	105859066	+	Missense_Mutation	SNP	C	C	T	rs112504064		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:105859066C>T	ENST00000258456.1	+	1	867	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCGCCTGCAGCGGCAGCAACA	0.652																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(751-753)Cgg>Tgg		G protein-coupled receptor 45		C	TRP/ARG	0,4406		0,0,2203	92.0	99.0	97.0		751	3.2	0.5	2	dbSNP_132	97	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR45	NM_007227.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	251/373	105859066	1,13005	2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859066C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.751C>T	2.37:g.105859066C>T	ENSP00000258456:p.Arg251Trp						p.R251W	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	867	+			251					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.751C>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213620	0.58452	0.0	1.16E-4	ENSG00000135973	ENST00000258456	T	0.75589	-0.95	5.1	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.070228	0.53938	D	0.000041	D	0.86997	0.6068	M	0.88640	2.97	0.41755	D	0.989689	D	0.89917	1.0	D	0.77557	0.99	D	0.89462	0.3737	10	0.87932	D	0	-18.0026	13.1584	0.59531	0.5291:0.4709:0.0:0.0	.	251	Q9Y5Y3	GPR45_HUMAN	W	251	ENSP00000258456:R251W	ENSP00000258456:R251W	R	+	1	2	GPR45	105225498	1.000000	0.71417	0.538000	0.28064	0.795000	0.44927	1.583000	0.36579	1.136000	0.42199	0.462000	0.41574	CGG		0.652	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		82	77	0	0	0	1	0	82	77				
KCNH2	3757	broad.mit.edu	37	7	150648140	150648140	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:150648140G>A	ENST00000262186.5	-	8	2415	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C	KCNH2_ENST00000392968.2_Missense_Mutation_p.R576C|KCNH2_ENST00000430723.3_Missense_Mutation_p.R672C|KCNH2_ENST00000330883.4_Missense_Mutation_p.R332C	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	672			Missing (in LQT2). {ECO:0000269|PubMed:15840476}.		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GTGTGGTAGCGGGCTGTGCCC	0.652																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1726-1728)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						72.0	61.0	65.0					7																	150648140		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648140G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2014C>T	7.37:g.150648140G>A	ENSP00000262186:p.Arg672Cys					KCNH2_ENST00000262186.5_Missense_Mutation_p.R672C|KCNH2_ENST00000330883.4_Missense_Mutation_p.R332C|KCNH2_ENST00000430723.3_Missense_Mutation_p.R672C	p.R576C			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	2846	-	all_neural(206;0.219)		672					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1726C>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882095	0.72294	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	4.36	4.36	0.52297	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	M	0.91510	3.215	0.54753	D	0.999981	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.988;1.0;0.993;0.999;0.988	D	0.98528	1.0626	10	0.87932	D	0	.	10.087	0.42423	0.0:0.0:0.7993:0.2007	.	576;672;332;672;332	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	C	332;576;672;332;672	ENSP00000328531:R332C;ENSP00000376695:R576C;ENSP00000262186:R672C;ENSP00000387657:R672C	ENSP00000262186:R672C	R	-	1	0	KCNH2	150279073	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	6.503000	0.73699	2.126000	0.65437	0.313000	0.20887	CGC		0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		18	35	0	0	0	1	0	18	35				
ZNF799	90576	broad.mit.edu	37	19	12501523	12501523	+	Silent	SNP	T	T	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:12501523T>C	ENST00000430385.3	-	4	1889	c.1689A>G	c.(1687-1689)caA>caG	p.Q563Q	ZNF799_ENST00000419318.1_Silent_p.Q531Q|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TACCACATTGTTGACACTCAT	0.413																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1591-1593)caA>caG		zinc finger protein 799							126.0	125.0	125.0					19																	12501523		2203	4299	6502	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501523T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1689A>G	19.37:g.12501523T>C						CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.Q563Q	p.Q531Q			Q96GE5	ZN799_HUMAN			4	2342	-			563						Silent	SNP	ENST00000430385.3	37	c.1593A>G	CCDS45989.1																																																																																				0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		17	116	0	0	0	1	0	17	116				
ADCK3	56997	broad.mit.edu	37	1	227174205	227174205	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:227174205G>A	ENST00000366779.1	+	20	4482	c.1711G>A	c.(1711-1713)Gcc>Acc	p.A571T	ADCK3_ENST00000433743.2_Missense_Mutation_p.A245T|ADCK3_ENST00000366778.1_Missense_Mutation_p.A519T|ADCK3_ENST00000458507.2_Missense_Mutation_p.A292T|ADCK3_ENST00000366777.3_Missense_Mutation_p.A571T|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	571					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGAGGCCTTCGCCTCTGATGA	0.592																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(1711-1713)Gcc>Acc		aarF domain containing kinase 3							96.0	94.0	95.0					1																	227174205		2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227174205G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1711G>A	1.37:g.227174205G>A	ENSP00000355741:p.Ala571Thr					ADCK3_ENST00000366775.1_Missense_Mutation_p.A416T|ADCK3_ENST00000458507.2_Missense_Mutation_p.A292T|ADCK3_ENST00000433743.2_Missense_Mutation_p.A245T|ADCK3_ENST00000366777.3_Missense_Mutation_p.A571T|ADCK3_ENST00000366776.1_Missense_Mutation_p.A496T|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.A519T	p.A571T			Q8NI60	ADCK3_HUMAN			20	4482	+			571					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.1711G>A	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748000	0.49257	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.75154	-0.8;-0.77;-0.8;-0.91;-0.5;-0.89;-0.79	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.76574	2.34	0.58432	D	0.999997	P;P	0.48640	0.786;0.913	B;B	0.42995	0.155;0.404	T	0.73372	-0.4003	10	0.14656	T	0.56	-25.023	20.2079	0.98282	0.0:0.0:1.0:0.0	.	245;571	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	T	571;519;571;496;292;416;522;245	ENSP00000355741:A571T;ENSP00000355740:A519T;ENSP00000355739:A571T;ENSP00000355738:A496T;ENSP00000403704:A292T;ENSP00000355737:A416T;ENSP00000404550:A245T	ENSP00000355737:A416T	A	+	1	0	ADCK3	225240828	0.998000	0.40836	1.000000	0.80357	0.772000	0.43724	2.632000	0.46511	2.781000	0.95711	0.655000	0.94253	GCC		0.592	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		32	41	0	0	0	1	0	32	41				
RNF113B	140432	broad.mit.edu	37	13	98829047	98829047	+	Silent	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr13:98829047C>T	ENST00000267291.6	-	1	472	c.444G>A	c.(442-444)cgG>cgA	p.R148R	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	148							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGTGGATTCCCCGGTAGATGT	0.647																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(442-444)cgG>cgA		ring finger protein 113B							98.0	83.0	88.0					13																	98829047		2203	4300	6503	SO:0001819	synonymous_variant	140432						nucleic acid binding|zinc ion binding	g.chr13:98829047C>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.444G>A	13.37:g.98829047C>T						FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron	p.R148R	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	472	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		148					Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.444G>A	CCDS9486.1																																																																																				0.647	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		11	51	0	0	0	1	0	11	51				
PNMA5	114824	broad.mit.edu	37	X	152159976	152159976	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:152159976A>T	ENST00000439251.1	-	2	605	c.167T>A	c.(166-168)tTc>tAc	p.F56Y	PNMA5_ENST00000361887.5_Missense_Mutation_p.F56Y|PNMA5_ENST00000535214.1_Missense_Mutation_p.F56Y|PNMA5_ENST00000452693.1_Missense_Mutation_p.F56Y	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	56					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ttccctcctgaacattctccc	0.522																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(166-168)tTc>tAc		paraneoplastic Ma antigen family member 5							152.0	130.0	137.0					X																	152159976		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159976A>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.167T>A	X.37:g.152159976A>T	ENSP00000388850:p.Phe56Tyr					PNMA5_ENST00000361887.5_Missense_Mutation_p.F56Y|PNMA5_ENST00000452693.1_Missense_Mutation_p.F56Y|PNMA5_ENST00000535214.1_Missense_Mutation_p.F56Y	p.F56Y	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	605	-	Acute lymphoblastic leukemia(192;6.56e-05)		56					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.167T>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451844	0.63290	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693;ENST00000437210	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	3.04	3.04	0.35103	.	.	.	.	.	T	0.49338	0.1551	M	0.83118	2.625	0.28095	N	0.931667	P	0.44776	0.843	P	0.55577	0.779	T	0.43228	-0.9404	9	0.87932	D	0	-7.5807	6.9873	0.24735	1.0:0.0:0.0:0.0	.	56	Q96PV4	PNMA5_HUMAN	Y	56	ENSP00000354834:F56Y;ENSP00000445775:F56Y;ENSP00000388850:F56Y;ENSP00000392342:F56Y;ENSP00000391130:F56Y	ENSP00000354834:F56Y	F	-	2	0	PNMA5	151910632	0.999000	0.42202	0.183000	0.23137	0.791000	0.44710	3.639000	0.54339	1.456000	0.47831	0.430000	0.28490	TTC		0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		56	99	0	0	0	1	0	56	99				
UNC13B	10497	broad.mit.edu	37	9	35381192	35381192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr9:35381192C>T	ENST00000378495.3	+	18	2446	c.2224C>T	c.(2224-2226)Cag>Tag	p.Q742*	UNC13B_ENST00000378496.4_Nonsense_Mutation_p.Q742*|UNC13B_ENST00000396787.1_Nonsense_Mutation_p.Q754*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	742					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATACCACGTGCAGTATACATG	0.537																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2224-2226)Cag>Tag		unc-13 homolog B (C. elegans)							93.0	78.0	84.0					9																	35381192		2203	4300	6503	SO:0001587	stop_gained	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35381192C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2224C>T	9.37:g.35381192C>T	ENSP00000367756:p.Gln742*					UNC13B_ENST00000396787.1_Nonsense_Mutation_p.Q754*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.Q742*	p.Q742*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		18	2446	+	all_epithelial(49;0.212)		742					Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	c.2224C>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	38	6.719155	0.97788	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.63	3.63	0.41609	.	0.048893	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.039	12.1334	0.53957	0.1355:0.7341:0.1304:0.0	.	.	.	.	X	754;742;742;329	.	ENSP00000367756:Q742X	Q	+	1	0	UNC13B	35371192	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	6.039000	0.70972	1.335000	0.45486	0.585000	0.79938	CAG		0.537	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		18	31	0	0	0	1	0	18	31				
UBB	7314	broad.mit.edu	37	17	16285416	16285416	+	Silent	SNP	G	G	T	rs146449749		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr17:16285416G>T	ENST00000395837.1	+	2	376	c.195G>T	c.(193-195)tcG>tcT	p.S65S	UBB_ENST00000302182.3_Silent_p.S65S|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.S65S|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.S65S	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	65	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGAAGGAGTCGACCCTGCACC	0.562																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(193-195)tcG>tcT		ubiquitin B							72.0	71.0	72.0					17																	16285416		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285416G>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.195G>T	17.37:g.16285416G>T						UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.S65S|UBB_ENST00000535788.1_Silent_p.S65S|UBB_ENST00000395839.1_Silent_p.S65S	p.S65S	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	587	+			65			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.195G>T	CCDS11177.1																																																																																				0.562	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	125	1	0	0.014758	1	0.0149783	4	125				
TTC27	55622	broad.mit.edu	37	2	33036105	33036105	+	Silent	SNP	A	A	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:33036105A>T	ENST00000317907.4	+	17	2244	c.2013A>T	c.(2011-2013)ctA>ctT	p.L671L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	671										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTAAAATTCTAGTCAGGGCAG	0.403																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2011-2013)ctA>ctT		tetratricopeptide repeat domain 27							92.0	89.0	90.0					2																	33036105		2203	4300	6503	SO:0001819	synonymous_variant	55622						protein binding	g.chr2:33036105A>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2013A>T	2.37:g.33036105A>T							p.L671L	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			17	2244	+			671					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	c.2013A>T	CCDS33176.1																																																																																				0.403	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		34	80	0	0	0	1	0	34	80				
ZKSCAN3	80317	broad.mit.edu	37	6	28333707	28333707	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr6:28333707C>A	ENST00000377255.3	+	7	1559	c.1262C>A	c.(1261-1263)aCt>aAt	p.T421N	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.T273N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.T421N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	421					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGAATCCACACTGGGGAGAAG	0.502																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(1261-1263)aCt>aAt		zinc finger with KRAB and SCAN domains 3							59.0	62.0	61.0					6																	28333707		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333707C>A	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1262C>A	6.37:g.28333707C>A	ENSP00000366465:p.Thr421Asn					ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.T273N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.T421N	p.T421N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			7	1559	+			421					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.1262C>A	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.416706	0.83449	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.26067	1.76;1.76;1.76	3.97	3.97	0.46021	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34454	0.0898	M	0.75615	2.305	0.41910	D	0.990467	D	0.58268	0.982	P	0.55161	0.77	T	0.34900	-0.9810	9	0.72032	D	0.01	.	14.9853	0.71342	0.0:1.0:0.0:0.0	.	421	Q9BRR0	ZKSC3_HUMAN	N	421;273;421	ENSP00000252211:T421N;ENSP00000341883:T273N;ENSP00000366465:T421N	ENSP00000252211:T421N	T	+	2	0	ZKSCAN3	28441686	0.966000	0.33281	0.982000	0.44146	0.983000	0.72400	2.311000	0.43717	2.047000	0.60756	0.655000	0.94253	ACT		0.502	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		34	21	1	0	8.16721e-17	1	9.41305e-17	34	21				
HTRA4	203100	broad.mit.edu	37	8	38834215	38834215	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr8:38834215T>C	ENST00000302495.4	+	3	828	c.728T>C	c.(727-729)aTt>aCt	p.I243T		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	243	Serine protease.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GTCAAGGATATTGACCTTAAA	0.433																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(727-729)aTt>aCt		HtrA serine peptidase 4							110.0	102.0	105.0					8																	38834215		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38834215T>C	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.728T>C	8.37:g.38834215T>C	ENSP00000305919:p.Ile243Thr						p.I243T	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		3	828	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	243			Serine protease.		Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.728T>C	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669975	0.67814	.	.	ENSG00000169495	ENST00000302495	D	0.88354	-2.37	5.38	5.38	0.77491	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.267415	0.31697	N	0.007215	D	0.85309	0.5667	N	0.05177	-0.1	0.45822	D	0.998699	P	0.51933	0.949	P	0.57009	0.811	D	0.87157	0.2212	10	0.41790	T	0.15	-10.0831	14.3719	0.66846	0.0:0.0:0.0:1.0	.	243	P83105	HTRA4_HUMAN	T	243	ENSP00000305919:I243T	ENSP00000305919:I243T	I	+	2	0	HTRA4	38953372	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	4.967000	0.63722	2.057000	0.61298	0.454000	0.30748	ATT		0.433	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		21	25	0	0	0	1	0	21	25				
ZNF284	342909	broad.mit.edu	37	19	44591382	44591382	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:44591382T>G	ENST00000421176.3	+	5	1967	c.1751T>G	c.(1750-1752)aTg>aGg	p.M584R	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AATCTAGATATGATTTTATCA	0.338																																						ENST00000421176.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(1750-1752)aTg>aGg		zinc finger protein 284							19.0	21.0	21.0					19																	44591382		2173	4285	6458	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44591382T>G	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1751T>G	19.37:g.44591382T>G	ENSP00000411032:p.Met584Arg					ZNF223_ENST00000591793.1_3'UTR	p.M584R	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN			5	1967	+		Prostate(69;0.0435)	584					Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.1751T>G	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597273	0.28445	.	.	ENSG00000186026	ENST00000421176	T	0.04758	3.56	0.421	0.421	0.16451	.	.	.	.	.	T	0.01124	0.0037	N	0.00960	-1.095	0.09310	N	1	P	0.44195	0.828	B	0.30251	0.113	T	0.41680	-0.9495	8	0.14252	T	0.57	.	.	.	.	.	584	Q2VY69	ZN284_HUMAN	R	584	ENSP00000411032:M584R	ENSP00000411032:M584R	M	+	2	0	ZNF284	49283222	0.019000	0.18553	0.531000	0.27976	0.570000	0.35934	1.673000	0.37534	0.383000	0.24910	0.374000	0.22700	ATG		0.338	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		17	18	0	0	0	1	0	17	18				
PHRF1	57661	broad.mit.edu	37	11	587405	587405	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr11:587405G>C	ENST00000264555.5	+	4	489	c.361G>C	c.(361-363)Ggg>Cgg	p.G121R	PHRF1_ENST00000413872.2_Missense_Mutation_p.G120R|PHRF1_ENST00000416188.2_Missense_Mutation_p.G121R|PHRF1_ENST00000533464.1_Missense_Mutation_p.G117R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	121					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCAGGCCGTGGGGACGCCGGA	0.552																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(361-363)Ggg>Cgg		PHD and ring finger domains 1							122.0	131.0	128.0					11																	587405		2107	4205	6312	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:587405G>C	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.361G>C	11.37:g.587405G>C	ENSP00000264555:p.Gly121Arg					PHRF1_ENST00000416188.2_Missense_Mutation_p.G121R|PHRF1_ENST00000533464.1_Missense_Mutation_p.G117R|PHRF1_ENST00000413872.2_Missense_Mutation_p.G120R	p.G121R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			4	489	+			121					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.361G>C		.	.	.	.	.	.	.	.	.	.	G	17.99	3.522268	0.64747	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	4.81	4.81	0.61882	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.39083	N	0.001464	T	0.67420	0.2891	N	0.10707	0.03	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	T	0.76321	-0.3002	10	0.87932	D	0	-37.5602	16.643	0.85134	0.0:0.0:1.0:0.0	.	117;120;121;121	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	R	121;120;121;117	ENSP00000264555:G121R;ENSP00000388589:G120R;ENSP00000410626:G121R;ENSP00000431870:G117R	ENSP00000264555:G121R	G	+	1	0	PHRF1	577405	1.000000	0.71417	0.994000	0.49952	0.049000	0.14656	9.381000	0.97205	2.208000	0.71279	0.561000	0.74099	GGG		0.552	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		16	54	0	0	0	1	0	16	54				
OR13C8	138802	broad.mit.edu	37	9	107331463	107331463	+	Silent	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr9:107331463C>T	ENST00000335040.1	+	1	15	c.15C>T	c.(13-15)aaC>aaT	p.N5N		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAGGACCAACGATTCCACGT	0.408																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(13-15)aaC>aaT		olfactory receptor, family 13, subfamily C, member 8							95.0	97.0	96.0					9																	107331463		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331463C>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.15C>T	9.37:g.107331463C>T							p.N5N	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	15	+			5					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.15C>T	CCDS35090.1																																																																																				0.408	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			50	5	0	0	0	1	0	50	5				
MYH7	4625	broad.mit.edu	37	14	23886383	23886383	+	Missense_Mutation	SNP	G	G	A	rs45544633		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr14:23886383G>A	ENST00000355349.3	-	32	4660	c.4498C>T	c.(4498-4500)Cgg>Tgg	p.R1500W	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1500			R -> P (in MPD1). {ECO:0000269|PubMed:15322983}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R1500W(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGTTCTCCCGCTTGAAGGTC	0.597																																						ENST00000355349.3																			1	Substitution - Missense(1)	p.R1500W(1)	kidney(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM045547	MYH7	M	rs45544633	c.(4498-4500)Cgg>Tgg		myosin, heavy chain 7, cardiac muscle, beta							123.0	131.0	128.0					14																	23886383		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886383G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4498C>T	14.37:g.23886383G>A	ENSP00000347507:p.Arg1500Trp						p.R1500W	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	32	4660	-	all_cancers(95;2.54e-05)		1500		R -> P (in MPD1).			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4498C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859274	0.71834	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.84146	-1.81	5.27	0.846	0.18955	Myosin tail (1);	.	.	.	.	D	0.94922	0.8358	H	0.98027	4.13	0.52501	D	0.999954	D	0.89917	1.0	D	0.97110	1.0	D	0.96193	0.9139	9	0.87932	D	0	.	15.4495	0.75262	0.0:0.0:0.3848:0.6152	rs45544633	1500	P12883	MYH7_HUMAN	W	1500;1505	ENSP00000347507:R1500W	ENSP00000347507:R1500W	R	-	1	2	MYH7	22956223	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.354000	0.20146	0.316000	0.23135	0.591000	0.81541	CGG		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		90	8	0	0	0	1	0	90	8				
PGAM4	441531	broad.mit.edu	37	X	77224931	77224931	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:77224931T>A	ENST00000458128.1	-	1	204	c.205A>T	c.(205-207)Aca>Tca	p.T69S	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	69					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						TCTAGCACTGTCCAGAGGGTC	0.577																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(205-207)Aca>Tca		phosphoglycerate mutase family member 4							71.0	68.0	69.0					X																	77224931		2203	4295	6498	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224931T>A	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.205A>T	X.37:g.77224931T>A	ENSP00000412189:p.Thr69Ser					ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	p.T69S	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	204	-			69					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.205A>T	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.457582	0.26161	.	.	ENSG00000226784	ENST00000458128	T	0.80123	-1.34	0.119	0.119	0.14685	Histidine phosphatase superfamily, clade-1 (2);	0.313869	0.30575	N	0.009331	T	0.69637	0.3133	L	0.39020	1.185	0.25740	N	0.985171	B	0.21225	0.053	B	0.36335	0.222	T	0.55742	-0.8093	9	.	.	.	-17.421	4.7185	0.12906	0.0:3.0E-4:0.0:0.9997	.	69	Q8N0Y7	PGAM4_HUMAN	S	69	ENSP00000412189:T69S	.	T	-	1	0	PGAM4	77111587	0.389000	0.25205	0.960000	0.40013	0.961000	0.63080	0.364000	0.20325	0.221000	0.20879	0.218000	0.17770	ACA		0.577	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		90	112	0	0	0	1	0	90	112				
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874|rs137852790|rs137852791		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000420246.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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"""		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(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	GRCh37	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)Ccc>Tcc	Other conserved DNA damage response genes	tumor protein p53							55.0	55.0	55.0					17																	7578479		2203	4300	6503	SO:0001583	missense	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.chr17:7578479G>A	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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser	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_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S	p.P151S	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	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.451C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	4	0	0	0	1	0	25	4				
ASPM	259266	broad.mit.edu	37	1	197071386	197071386	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:197071386C>A	ENST00000367409.4	-	18	7251	c.6995G>T	c.(6994-6996)cGa>cTa	p.R2332L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2332	IQ 22. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTGCATCTCTCGCATCCTTTT	0.403																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6994-6996)cGa>cTa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							144.0	135.0	138.0					1																	197071386		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071386C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6995G>T	1.37:g.197071386C>A	ENSP00000356379:p.Arg2332Leu					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.R2332L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	7251	-			2332			IQ 22.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6995G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.937789	0.34189	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72725	-0.68	4.33	-0.951	0.10369	.	0.624337	0.14751	N	0.300618	T	0.73961	0.3654	L	0.55481	1.735	0.09310	N	1	D;P	0.61697	0.99;0.944	D;P	0.70716	0.97;0.84	T	0.64377	-0.6422	10	0.17369	T	0.5	.	8.6355	0.33945	0.0:0.3592:0.0:0.6408	.	318;2332	E7EQ84;Q8IZT6	.;ASPM_HUMAN	L	2332;318	ENSP00000356379:R2332L	ENSP00000356376:R318L	R	-	2	0	ASPM	195338009	0.000000	0.05858	0.000000	0.03702	0.934000	0.57294	-0.231000	0.09069	-0.256000	0.09473	-0.496000	0.04628	CGA		0.403	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		40	44	1	0	5.43694e-19	1	6.37434e-19	40	44				
SLC15A3	51296	broad.mit.edu	37	11	60707095	60707095	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr11:60707095T>A	ENST00000227880.3	-	6	1525	c.1292A>T	c.(1291-1293)gAg>gTg	p.E431V		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	431					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GTGTAAGCGCTCCATCTCCAG	0.592																																						ENST00000227880.3																			0				central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						c.(1291-1293)gAg>gTg		solute carrier family 15 (oligopeptide transporter), member 3							113.0	73.0	87.0					11																	60707095		2203	4299	6502	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60707095T>A	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1292A>T	11.37:g.60707095T>A	ENSP00000227880:p.Glu431Val						p.E431V	NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN			6	1525	-			431					Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.1292A>T	CCDS7998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.28|14.28	2.487998|2.487998	0.44249|0.44249	.|.	.|.	ENSG00000110446|ENSG00000110446	ENST00000227880|ENST00000537307	T|.	0.04317|.	3.65|.	4.62|4.62	4.62|4.62	0.57501|0.57501	Major facilitator superfamily domain, general substrate transporter (1);|.	0.599027|.	0.15907|.	N|.	0.238767|.	T|T	0.40297|0.40297	0.1111|0.1111	L|L	0.29908|0.29908	0.895|0.895	0.32980|0.32980	D|D	0.523528|0.523528	P|P	0.51147|0.47484	0.942|0.896	P|P	0.52386|0.45610	0.697|0.487	T|T	0.50668|0.50668	-0.8801|-0.8801	10|7	0.72032|.	D|.	0.01|.	-10.9456|-10.9456	11.9318|11.9318	0.52851|0.52851	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	431|375	Q8IY34|F5H1C8	S15A3_HUMAN|.	V|C	431|97	ENSP00000227880:E431V|.	ENSP00000227880:E431V|.	E|S	-|-	2|1	0|0	SLC15A3|SLC15A3	60463671|60463671	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.942000|0.942000	0.58702|0.58702	4.958000|4.958000	0.63660|0.63660	2.072000|2.072000	0.62099|0.62099	0.459000|0.459000	0.35465|0.35465	GAG|AGC		0.592	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		14	30	0	0	0	1	0	14	30				
SNRPC	6631	broad.mit.edu	37	6	34725706	34725706	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr6:34725706G>A	ENST00000244520.5	+	2	164	c.26G>A	c.(25-27)tGc>tAc	p.C9Y	SNRPC_ENST00000374017.3_Missense_Mutation_p.C30Y|SNRPC_ENST00000374018.1_Intron|SNRPC_ENST00000474635.1_3'UTR	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						TGTGACTACTGCGATACATAC	0.368																																					NSCLC(131;576 1831 5287 11175 13324)	ENST00000374017.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						c.(88-90)tGc>tAc		small nuclear ribonucleoprotein polypeptide C							231.0	212.0	218.0					6																	34725706		2203	4300	6503	SO:0001583	missense	6631				spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding	g.chr6:34725706G>A		CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.26G>A	6.37:g.34725706G>A	ENSP00000244520:p.Cys9Tyr					SNRPC_ENST00000244520.5_Missense_Mutation_p.C9Y|SNRPC_ENST00000374018.1_Intron|SNRPC_ENST00000474635.1_3'UTR	p.C30Y			P09234	RU1C_HUMAN			1	376	+			9						Missense_Mutation	SNP	ENST00000244520.5	37	c.89G>A	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597232	0.87055	.	.	ENSG00000124562	ENST00000244520;ENST00000374017	.	.	.	5.54	4.68	0.58851	Zinc finger, U1-C type (1);Zinc finger, U1-type (1);Zinc finger, C2H2-type matrin (1);	0.000000	0.85682	D	0.000000	T	0.82111	0.4966	H	0.96048	3.76	0.80722	D	1	D	0.63880	0.993	P	0.59761	0.863	D	0.87994	0.2751	9	0.72032	D	0.01	.	14.0305	0.64613	0.0724:0.0:0.9276:0.0	.	9	P09234	RU1C_HUMAN	Y	9;30	.	ENSP00000244520:C9Y	C	+	2	0	SNRPC	34833684	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.284000	0.89912	1.584000	0.49913	0.655000	0.94253	TGC		0.368	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1	NM_003093		20	40	0	0	0	1	0	20	40				
FER1L6	654463	broad.mit.edu	37	8	125082754	125082754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr8:125082754G>A	ENST00000522917.1	+	30	4087	c.3881G>A	c.(3880-3882)tGg>tAg	p.W1294*	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.W1294*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1294						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTGAAGACTGGGTGAAAACT	0.418																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3880-3882)tGg>tAg		fer-1-like 6 (C. elegans)							179.0	168.0	172.0					8																	125082754		1844	4082	5926	SO:0001587	stop_gained	654463					integral to membrane		g.chr8:125082754G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3881G>A	8.37:g.125082754G>A	ENSP00000428280:p.Trp1294*					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.W1294*	p.W1294*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		30	4087	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1294						Nonsense_Mutation	SNP	ENST00000522917.1	37	c.3881G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	45	11.765625	0.99600	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5392	20.017	0.97481	0.0:0.0:1.0:0.0	.	.	.	.	X	1294	.	ENSP00000381982:W1294X	W	+	2	0	FER1L6	125151935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.773000	0.98989	2.832000	0.97577	0.655000	0.94253	TGG		0.418	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		16	88	0	0	0	1	0	16	88				
THAP8	199745	broad.mit.edu	37	19	36526381	36526381	+	Silent	SNP	G	G	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:36526381G>T	ENST00000292894.1	-	4	1330	c.786C>A	c.(784-786)gcC>gcA	p.A262A	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_5'Flank|THAP8_ENST00000538849.1_Silent_p.A117A|CLIP3_ENST00000360535.4_5'Flank	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	262							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTCCGGCTTGGCATCCACTG	0.537																																						ENST00000292894.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(784-786)gcC>gcA		THAP domain containing 8							89.0	83.0	85.0					19																	36526381		2203	4300	6503	SO:0001819	synonymous_variant	199745						DNA binding|metal ion binding	g.chr19:36526381G>T	AK057453	CCDS33000.1	19q13.13	2013-01-25			ENSG00000161277	ENSG00000161277		"""THAP (C2CH-type zinc finger) domain containing"""	23191	protein-coding gene	gene with protein product		612536				12575992	Standard	NM_152658		Approved	FLJ32891	uc002oda.1	Q8NA92	OTTHUMG00000048138	ENST00000292894.1:c.786C>A	19.37:g.36526381G>T						AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000538849.1_Silent_p.A117A	p.A262A	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	1330	-	Esophageal squamous(110;0.162)		262					Q0P5Z7|Q96M21	Silent	SNP	ENST00000292894.1	37	c.786C>A	CCDS33000.1																																																																																				0.537	THAP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379036.1	NM_152658		16	69	1	0	3.45872e-05	1	3.79343e-05	16	69				
MT-ND5	4540	broad.mit.edu	37	M	12698	12698	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrM:12698T>C	ENST00000361567.2	+	1	362	c.362T>C	c.(361-363)cTa>cCa	p.L121P	MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	121					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTTCAAATATCTACTCATTTT	0.363																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(361-363)cTa>cCa		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12698T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.362T>C	M.37:g.12698T>C	ENSP00000354813:p.Leu121Pro						p.L121P			P03915	NU5M_HUMAN			1	362	+			121					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.362T>C																																																																																					0.363	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		72	28	0	0	0	1	0	72	28				
LINC01410	103352539	broad.mit.edu	37	9	66458013	66458013	+	lincRNA	SNP	G	G	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr9:66458013G>T	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							CGGTGCTGCAGTGGCGGATCT	0.716																																						ENST00000424345.1																			0																																																			0							g.chr9:66458013G>T																													9.37:g.66458013G>T														0	67	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.716	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			3	15	1	0	0.115264	1	0.115264	3	15				
SORCS3	22986	broad.mit.edu	37	10	107015549	107015549	+	Silent	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr10:107015549G>A	ENST00000369701.3	+	24	3554	c.3327G>A	c.(3325-3327)caG>caA	p.Q1109Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1109					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATGTCACACAGCTGACGTTAG	0.443																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3325-3327)caG>caA		sortilin-related VPS10 domain containing receptor 3							101.0	88.0	92.0					10																	107015549		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107015549G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3327G>A	10.37:g.107015549G>A							p.Q1109Q	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	24	3554	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1109					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.3327G>A	CCDS7558.1																																																																																				0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		27	34	0	0	0	1	0	27	34				
FHOD3	80206	broad.mit.edu	37	18	34297864	34297864	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr18:34297864G>A	ENST00000359247.4	+	15	2027	c.2027G>A	c.(2026-2028)cGg>cAg	p.R676Q	FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000257209.4_Missense_Mutation_p.R693Q|FHOD3_ENST00000445677.1_Missense_Mutation_p.R655Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R868Q|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	676					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCAACAAACGGTTCATGCTT	0.542																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(2077-2079)cGg>cAg		formin homology 2 domain containing 3							124.0	105.0	112.0					18																	34297864		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34297864G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2027G>A	18.37:g.34297864G>A	ENSP00000352186:p.Arg676Gln					FHOD3_ENST00000445677.1_Missense_Mutation_p.R655Q|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.R676Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R868Q	p.R693Q	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			16	2200	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	676					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.2078G>A		.	.	.	.	.	.	.	.	.	.	G	19.85	3.903283	0.72754	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.34072	1.38;1.38;1.38	5.24	5.24	0.73138	.	0.249780	0.40469	N	0.001093	T	0.56455	0.1986	M	0.67953	2.075	0.45704	D	0.998611	D;D;D	0.71674	0.974;0.998;0.991	P;D;P	0.68765	0.455;0.96;0.594	T	0.52939	-0.8508	10	0.34782	T	0.22	.	15.5657	0.76290	0.0:0.0:1.0:0.0	.	655;676;693	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	Q	693;676;655	ENSP00000257209:R693Q;ENSP00000352186:R676Q;ENSP00000411430:R655Q	ENSP00000257209:R693Q	R	+	2	0	FHOD3	32551862	1.000000	0.71417	0.988000	0.46212	0.964000	0.63967	6.394000	0.73223	2.458000	0.83093	0.455000	0.32223	CGG		0.542	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		49	59	0	0	0	1	0	49	59				
GPRASP1	9737	broad.mit.edu	37	X	101912152	101912152	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:101912152C>T	ENST00000361600.5	+	5	4112	c.3311C>T	c.(3310-3312)cCt>cTt	p.P1104L	GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1104L|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1104L|GPRASP1_ENST00000537097.1_Missense_Mutation_p.P1104L|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1104	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGCTTCAGCCTGATCAGCCT	0.488																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3310-3312)cCt>cTt		G protein-coupled receptor associated sorting protein 1							136.0	127.0	130.0					X																	101912152		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912152C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3311C>T	X.37:g.101912152C>T	ENSP00000355146:p.Pro1104Leu					RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1104L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1104L|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P1104L	p.P1104L	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4124	+			1104			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3311C>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637147	0.14386	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	2.03	2.03	0.26663	.	.	.	.	.	T	0.09992	0.0245	L	0.34521	1.04	0.09310	N	1	D	0.59357	0.985	P	0.50537	0.643	T	0.21245	-1.0251	9	0.59425	D	0.04	.	6.9269	0.24419	0.0:1.0:0.0:0.0	.	1104	Q5JY77	GASP1_HUMAN	L	1104	ENSP00000393691:P1104L;ENSP00000409420:P1104L;ENSP00000355146:P1104L;ENSP00000445683:P1104L	ENSP00000355146:P1104L	P	+	2	0	GPRASP1	101798808	0.001000	0.12720	0.180000	0.23079	0.615000	0.37417	0.980000	0.29513	1.315000	0.45114	0.284000	0.19432	CCT		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		101	93	0	0	0	1	0	101	93				
DROSHA	29102	broad.mit.edu	37	5	31464365	31464365	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:31464365C>A	ENST00000511367.2	-	19	2796	c.2552G>T	c.(2551-2553)gGc>gTc	p.G851V	DROSHA_ENST00000513349.1_Missense_Mutation_p.G814V|DROSHA_ENST00000442743.1_Missense_Mutation_p.G814V|DROSHA_ENST00000344624.3_Missense_Mutation_p.G851V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	851	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGAACGGATGCCAGTTTTCCA	0.428																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2551-2553)gGc>gTc		drosha, ribonuclease type III							102.0	100.0	100.0					5																	31464365		1889	4121	6010	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31464365C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2552G>T	5.37:g.31464365C>A	ENSP00000425979:p.Gly851Val					DROSHA_ENST00000442743.1_Missense_Mutation_p.G814V|DROSHA_ENST00000344624.3_Missense_Mutation_p.G851V|DROSHA_ENST00000513349.1_Missense_Mutation_p.G814V	p.G851V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			19	2796	-			851			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.2552G>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045946	0.93685	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;D;D	0.82255	-0.94;-0.94;-1.59;-1.59	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91470	0.5196	10	0.87932	D	0	-15.8368	20.3248	0.98698	0.0:1.0:0.0:0.0	.	814;851	E7EMP9;Q9NRR4	.;RNC_HUMAN	V	851;851;814;814;776;807	ENSP00000425979:G851V;ENSP00000339845:G851V;ENSP00000409335:G814V;ENSP00000424161:G814V	ENSP00000265075:G776V	G	-	2	0	DROSHA	31500122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.360000	0.79487	2.818000	0.97014	0.655000	0.94253	GGC		0.428	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		13	27	1	0	3.45872e-05	1	3.79343e-05	13	27				
USP1	7398	broad.mit.edu	37	1	62908931	62908931	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:62908931T>A	ENST00000339950.4	+	5	1313	c.498T>A	c.(496-498)aaT>aaA	p.N166K	USP1_ENST00000371146.1_Missense_Mutation_p.N166K	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	166	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TTCTCTTAAATCCAGAGAAAT	0.368																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(496-498)aaT>aaA		ubiquitin specific peptidase 1							87.0	87.0	87.0					1																	62908931		2203	4300	6503	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62908931T>A		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.498T>A	1.37:g.62908931T>A	ENSP00000343526:p.Asn166Lys					USP1_ENST00000371146.1_Missense_Mutation_p.N166K	p.N166K	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	5	1313	+		all_neural(321;0.0281)	166					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.498T>A	CCDS621.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146038	0.77888	.	.	ENSG00000162607	ENST00000452143;ENST00000371146;ENST00000339950	T;T;T	0.49139	0.79;0.79;0.79	5.55	3.13	0.36017	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	L	0.52573	1.65	0.51767	D	0.999936	D	0.65815	0.995	D	0.65443	0.935	T	0.52601	-0.8554	10	0.41790	T	0.15	-22.8829	8.2542	0.31746	0.0:0.2842:0.0:0.7158	.	166	O94782	UBP1_HUMAN	K	166	ENSP00000403662:N166K;ENSP00000360188:N166K;ENSP00000343526:N166K	ENSP00000343526:N166K	N	+	3	2	USP1	62681519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.025000	0.30090	1.082000	0.41137	0.533000	0.62120	AAT		0.368	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		30	37	0	0	0	1	0	30	37				
ZNF358	140467	broad.mit.edu	37	19	7585559	7585559	+	Silent	SNP	A	A	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:7585559A>G	ENST00000597229.1	+	2	1601	c.1431A>G	c.(1429-1431)aaA>aaG	p.K477K	ZNF358_ENST00000394341.2_Silent_p.K477K|CTD-2207O23.11_ENST00000602083.1_RNA|MCOLN1_ENST00000264079.6_5'Flank	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	477					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						ccagctccaaacccctccccg	0.682																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(1429-1431)aaA>aaG		zinc finger protein 358							36.0	36.0	36.0					19																	7585559		2200	4298	6498	SO:0001819	synonymous_variant	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585559A>G	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1431A>G	19.37:g.7585559A>G						ZNF358_ENST00000394341.2_Silent_p.K477K	p.K477K	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN			2	1601	+			477					Q9BTM7	Silent	SNP	ENST00000597229.1	37	c.1431A>G	CCDS32890.2																																																																																				0.682	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			12	27	0	0	0	1	0	12	27				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	76	0	0	0	1	0	4	76				
PIK3CA	5290	broad.mit.edu	37	3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr3:178916930G>T	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106			G -> V (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAACCAGTAGGCAACCGTGAA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		12	Substitution - Missense(7)|Deletion - In frame(4)|Complex - deletion inframe(1)	p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)	lung(4)|large_intestine(3)|breast(3)|endometrium(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(316-318)gGc>gTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							90.0	86.0	87.0					3																	178916930		1825	4072	5897	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916930G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.317G>T	3.37:g.178916930G>T	ENSP00000263967:p.Gly106Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G106V	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	474	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		106		G -> V (in cancer; shows an increase in lipid kinase activity).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.317G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216426	0.79352	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74421	0.67;-0.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86624	0.1881	9	.	.	.	-7.432	19.4271	0.94746	0.0:0.0:1.0:0.0	.	106	P42336	PK3CA_HUMAN	V	106	ENSP00000263967:G106V;ENSP00000417479:G106V	.	G	+	2	0	PIK3CA	180399624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.563000	0.82314	2.584000	0.87258	0.555000	0.69702	GGC		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			102	38	1	0	3.37413e-40	1	4.09715e-40	102	38				
USP1	7398	broad.mit.edu	37	1	62910418	62910418	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:62910418delC	ENST00000339950.4	+	6	1382	c.567delC	c.(565-567)aacfs	p.N189fs	USP1_ENST00000371146.1_Frame_Shift_Del_p.N189fs	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	189	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GGGAACTCAACCCTATGTATG	0.303																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(565-567)aafs		ubiquitin specific peptidase 1							51.0	57.0	55.0					1																	62910418		2203	4300	6503	SO:0001589	frameshift_variant	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62910418delC		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.567delC	1.37:g.62910418delC	ENSP00000343526:p.Asn189fs					USP1_ENST00000371146.1_Frame_Shift_Del_p.N189fs	p.N189fs	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	6	1382	+		all_neural(321;0.0281)	189					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Frame_Shift_Del	DEL	ENST00000339950.4	37	c.567delC	CCDS621.1																																																																																				0.303	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		27	39						27	39	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142637066	142637068	+	lincRNA	DEL	AAG	AAG	-	rs71220658|rs71582727		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:142637066_142637068delAAG	ENST00000610091.1	-	0	3560				RP11-417J8.3_ENST00000426408.1_lincRNA																							GACAAAAAACAAGAAGAACATTG	0.335																																						ENST00000369381.2																			0																																																			0							g.chr1:142637066_142637068delAAG																													1.37:g.142637069_142637071delAAG						RP11-417J8.3_ENST00000426408.1_lincRNA								0	2507	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.335	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	4						3	4	---	---	---	---
C1orf106	55765	broad.mit.edu	37	1	200881172	200881172	+	Frame_Shift_Del	DEL	C	C	-	rs296521	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:200881172delC	ENST00000367342.4	+	9	2006	c.1806delC	c.(1804-1806)cgcfs	p.R602fs	C1orf106_ENST00000465162.1_3'UTR|C1orf106_ENST00000413687.2_Frame_Shift_Del_p.R517fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	602										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGAGCACCCGCCCCCACTCAC	0.716																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1804-1806)cgfs		chromosome 1 open reading frame 106							2.0	4.0	3.0					1																	200881172		1537	3096	4633	SO:0001589	frameshift_variant	55765							g.chr1:200881172delC	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1806delC	1.37:g.200881172delC	ENSP00000356311:p.Arg602fs					C1orf106_ENST00000413687.2_Frame_Shift_Del_p.R517fs|C1orf106_ENST00000465162.1_3'UTR	p.R602fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	2006	+			602					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Frame_Shift_Del	DEL	ENST00000367342.4	37	c.1806delC																																																																																					0.716	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		2	4						2	4	---	---	---	---
OR2T7	81458	broad.mit.edu	37	1	248604559	248604560	+	Frame_Shift_Ins	INS	-	-	TC	rs58223479|rs150497047|rs397951667	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:248604559_248604560insTC	ENST00000460972.3	+	1	52_53	c.52_53insTC	c.(52-54)ttcfs	p.F18fs				P0C7T2	OR2T7_HUMAN	olfactory receptor, family 2, subfamily T, member 7	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TTCCCCTGGCTTCTTTGCCCTC	0.515														2957	0.590455	0.5499	0.6398	5008	,	,		5805	0.626		0.5865	False		,,,				2504	0.5777					ENST00000460972.3																			0											c.(52-54)cttfs		olfactory receptor, family 2, subfamily T, member 7																																				SO:0001589	frameshift_variant	81458							g.chr1:248604559_248604560insTC			1q44	2013-09-05		2004-03-10	ENSG00000227152	ENSG00000227152		"""GPCR / Class A : Olfactory receptors"""	15019	protein-coding gene	gene with protein product				OR2T7P			Standard	NG_004272		Approved	OST723		P0C7T2	OTTHUMG00000040449	ENST00000460972.3:c.53_54dupTC	1.37:g.248604560_248604561dupTC	ENSP00000475521:p.Phe18fs						p.L18fs							1	52_53	+									Frame_Shift_Ins	INS	ENST00000460972.3	37	c.52_53insTC																																																																																					0.515	OR2T7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000097345.3			2	4						2	4	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1946857	1946859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:1946857_1946859delCTC	ENST00000399161.2	-	9	1147_1149	c.400_402delGAG	c.(400-402)gagdel	p.E134del	MYT1L_ENST00000428368.2_In_Frame_Del_p.E134del	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	134	Asp/Glu-rich.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		cctcctcgatctcctcctcctcc	0.576																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(400-402)del		myelin transcription factor 1-like				33,3907		4,25,1941						-0.0	0.0			94	58,7582		7,44,3769	no	coding	MYT1L	NM_015025.2		11,69,5710	A1A1,A1R,RR		0.7592,0.8376,0.7858				91,11489				SO:0001651	inframe_deletion	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1946857_1946859delCTC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.400_402delGAG	2.37:g.1946866_1946868delCTC	ENSP00000382114:p.Glu134del					MYT1L_ENST00000428368.2_In_Frame_Del_p.E134del	p.E134del	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	9	1147_1149	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	134			Asp/Glu-rich.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	In_Frame_Del	DEL	ENST00000399161.2	37	c.400_402delGAG																																																																																					0.576	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		4	4						4	4	---	---	---	---
LINC01159	102682016	broad.mit.edu	37	2	105488532	105488533	+	RNA	DEL	AC	AC	-	rs147284758		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:105488532_105488533delAC	ENST00000433433.1	-	0	207				RP11-13J10.1_ENST00000598623.1_RNA|AC018730.3_ENST00000434764.1_RNA																							acacacacagacacacacacac	0.614																																						ENST00000433433.1																			0																																																			0							g.chr2:105488532_105488533delAC																													2.37:g.105488542_105488543delAC						RP11-13J10.1_ENST00000598623.1_RNA|AC018730.3_ENST00000434764.1_RNA								0	207	-									RNA	DEL	ENST00000433433.1	37																																																																																						0.614	AC018730.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000329325.1			3	5						3	5	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1372-1374)del		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF2B5_ENST00000444495.1_Intron	p.E465del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1786_1788	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	226						7	226	---	---	---	---
LOC728339	728339	broad.mit.edu	37	4	190821799	190821800	+	lincRNA	INS	-	-	T	rs140638219		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr4:190821799_190821800insT	ENST00000511785.1	-	0	231																											TTTTTTGTTTGTTTTTTACTTA	0.317																																						ENST00000511785.1																			0																																																			0							g.chr4:190821799_190821800insT																													4.37:g.190821805_190821805dupT														0	231	-									RNA	INS	ENST00000511785.1	37																																																																																						0.317	AF146191.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000361301.1			2	4						2	4	---	---	---	---
LOC285692	285692	broad.mit.edu	37	5	9827711	9827712	+	lincRNA	DEL	CA	CA	-	rs567938323|rs200935886|rs577817198|rs66892520	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:9827711_9827712delCA	ENST00000511616.1	-	0	521					NR_027112.2																						tggtggcatgcacacacacaca	0.51														2891	0.577276	0.3381	0.6527	5008	,	,		18972	0.6379		0.6938	False		,,,				2504	0.6646					ENST00000511616.1																			0																																																			0							g.chr5:9827711_9827712delCA																													5.37:g.9827721_9827722delCA								NR_027112.2						0	521	-									RNA	DEL	ENST00000511616.1	37																																																																																						0.510	CTD-2143L24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000365724.1			2	4						2	4	---	---	---	---
LOC100653061	100653061	broad.mit.edu	37	5	34188323	34188324	+	RNA	INS	-	-	AA	rs111618707|rs144892817|rs78852576	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:34188323_34188324insAA	ENST00000514048.1	-	0	43																											gaaatccaggcaagtttgctgt	0.525														3765	0.751797	0.8631	0.732	5008	,	,		70750	0.6458		0.7614	False		,,,				2504	0.7147					ENST00000514048.1																			0																																																			0							g.chr5:34188323_34188324insAA																													5.37:g.34188324_34188325dupAA														0	43	-									RNA	INS	ENST00000514048.1	37																																																																																						0.525	RP11-1023L17.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000367775.1			2	4						2	4	---	---	---	---
C7orf43	55262	broad.mit.edu	37	7	99755809	99755809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:99755809delG	ENST00000316937.3	-	1	499	c.314delC	c.(313-315)ccafs	p.P105fs	C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000457641.1_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	105	Gly-rich.									breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTCCCCCTGGGGGCTCCGA	0.756																																						ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(313-315)cafs		chromosome 7 open reading frame 43							3.0	5.0	4.0					7																	99755809		1487	3219	4706	SO:0001589	frameshift_variant	55262							g.chr7:99755809delG		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.314delC	7.37:g.99755809delG	ENSP00000324741:p.Pro105fs						p.P105fs	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			1	499	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		105			Gly-rich.		A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Frame_Shift_Del	DEL	ENST00000316937.3	37	c.314delC	CCDS5687.1																																																																																				0.756	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		2	4						2	4	---	---	---	---
LOC401478	401478	broad.mit.edu	37	8	138879742	138879742	+	lincRNA	DEL	T	T	-	rs60802438	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr8:138879742delT	ENST00000518973.1	-	0	514				RP11-238K6.2_ENST00000519652.1_lincRNA																							ggaaaatgtcttaagggcatg	0.453													T|TT|T|insertion	3836	0.765974	0.6626	0.7378	5008	,	,		20029	0.9077		0.7296	False		,,,				2504	0.817					ENST00000518973.1																			0																																																			0							g.chr8:138879742delT																													8.37:g.138879742delT						RP11-238K6.2_ENST00000519652.1_lincRNA								0	514	-									RNA	DEL	ENST00000518973.1	37																																																																																						0.453	RP11-238K6.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000377596.2			5	1						5	1	---	---	---	---
CA9	768	broad.mit.edu	37	9	35682764	35682765	+	IGR	INS	-	-	G	rs138163723	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr9:35682764_35682765insG	ENST00000378357.4	+	0	1618				TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378300.5_Frame_Shift_Ins_p.W304fs|TPM2_ENST00000378292.3_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX						bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	AGCGACAGCCAGGGAGTGCCTG	0.609													GGG|GGG|GGGG|insertion	691	0.137979	0.2829	0.0951	5008	,	,		18295	0.0268		0.1412	False		,,,				2504	0.0838					ENST00000378300.5																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(907-912)ccggctfs		tropomyosin 2 (beta)																																				SO:0001628	intergenic_variant	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35682764_35682765insG	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029		9.37:g.35682767_35682767dupG						TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378292.3_Intron	p.A304fs			P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	994_995	-	all_epithelial(49;0.121)		0					Q5T4R1	Frame_Shift_Ins	INS	ENST00000378357.4	37	c.909_910insC	CCDS6585.1																																																																																				0.609	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		6	2						6	2	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68406889	68406889	+	lincRNA	DEL	G	G	-	rs113316891		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr9:68406889delG	ENST00000417843.2	-	0	224				RNA5SP284_ENST00000384547.1_RNA																							atccagggcagtcatagtggt	0.498																																						ENST00000417843.2																			0																																																			0							g.chr9:68406889delG																													9.37:g.68406889delG														0	224	-									RNA	DEL	ENST00000417843.2	37																																																																																						0.498	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			3	6						3	6	---	---	---	---
RP11-464F9.1	0	broad.mit.edu	37	10	75486922	75486923	+	RNA	INS	-	-	A	rs11387949|rs397749653	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr10:75486922_75486923insA	ENST00000399449.3	-	0	427				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							GCTAACTTAGTAAAGTATAAGA	0.386													|||unknown(NO_COVERAGE)	2495	0.498203	0.4939	0.4769	5008	,	,		22389	0.2778		0.7594	False		,,,				2504	0.4775					ENST00000399449.3																			0																																																			0							g.chr10:75486922_75486923insA																													10.37:g.75486925_75486925dupA						BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA								0	427	-									RNA	INS	ENST00000399449.3	37																																																																																						0.386	RP11-464F9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000048674.2			6	11						6	11	---	---	---	---
EDRF1	26098	broad.mit.edu	37	10	127414264	127414266	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr10:127414264_127414266delGGA	ENST00000356792.4	+	6	881_883	c.649_651delGGA	c.(649-651)ggadel	p.G217del	C10orf137_ENST00000337623.3_In_Frame_Del_p.G217del	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAATGGTGATGGAGCCGCTCAGC	0.448																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(649-651)del		chromosome 10 open reading frame 137																																				SO:0001651	inframe_deletion	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127414264_127414266delGGA																												ENST00000356792.4:c.649_651delGGA	10.37:g.127414264_127414266delGGA	ENSP00000349244:p.Gly217del					C10orf137_ENST00000356792.4_In_Frame_Del_p.G217del	p.G217del	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			6	754_756	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	217					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	In_Frame_Del	DEL	ENST00000356792.4	37	c.649_651delGGA	CCDS55733.1																																																																																				0.448	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			21	31						21	31	---	---	---	---
RP11-313F23.4	0	broad.mit.edu	37	12	34358038	34358038	+	lincRNA	DEL	T	T	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr12:34358038delT	ENST00000545923.2	-	0	221				5S_rRNA_ENST00000607318.1_RNA																							CAAGCTACCCTTTAGGGACAT	0.677																																						ENST00000545923.2																			0																																																			0							g.chr12:34358038delT																													12.37:g.34358038delT														0	221	-									RNA	DEL	ENST00000545923.2	37																																																																																						0.677	RP11-313F23.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000403317.2			2	4						2	4	---	---	---	---
TRDC	28526	broad.mit.edu	37	14	22933391	22933391	+	RNA	DEL	C	C	-	rs36090939	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr14:22933391delC	ENST00000390477.2	+	0	465				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											TTAGAAATGGCTAAGAAACCA	0.408													-|C|-|insertion	491	0.0980431	0.1067	0.1167	5008	,	,		20151	0.005		0.1541	False		,,,				2504	0.1115					ENST00000514473.2																			0																																																			0							g.chr14:22933391delC	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22933391delC						TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA								0	225	-									RNA	DEL	ENST00000390477.2	37																																																																																						0.408	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		6	0						6	0	---	---	---	---
LINC00644	101954204	broad.mit.edu	37	14	62604476	62604477	+	lincRNA	DEL	TC	TC	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr14:62604476_62604477delTC	ENST00000555156.1	-	0	65					NR_104063.1				long intergenic non-protein coding RNA 644																		caagaccctgtctcaaaaaaaa	0.465																																						ENST00000555156.1																			0																																																			0							g.chr14:62604476_62604477delTC	AW292481		14q23.2	2014-01-30			ENSG00000259142	ENSG00000259142		"""Long non-coding RNAs"""	44297	non-coding RNA	RNA, long non-coding							Standard	NR_104063		Approved				OTTHUMG00000171117		14.37:g.62604478_62604479delTC														0	65	-									RNA	DEL	ENST00000555156.1	37																																																																																						0.465	LINC00644-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411767.1	NR_104063		2	4						2	4	---	---	---	---
USP10	9100	broad.mit.edu	37	16	84778803	84778803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr16:84778803delC	ENST00000219473.7	+	4	829	c.716delC	c.(715-717)gcafs	p.A239fs	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Frame_Shift_Del_p.A243fs	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	239					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ACCAGGACTGCAGGGCAGCCA	0.627																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(715-717)gafs		ubiquitin specific peptidase 10							14.0	15.0	15.0					16																	84778803		1863	4077	5940	SO:0001589	frameshift_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84778803delC	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.716delC	16.37:g.84778803delC	ENSP00000219473:p.Ala239fs					USP10_ENST00000570191.1_Frame_Shift_Del_p.A243fs|USP10_ENST00000562743.1_3'UTR	p.A239fs	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			4	829	+			239					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Frame_Shift_Del	DEL	ENST00000219473.7	37	c.716delC	CCDS45537.1																																																																																				0.627	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			19	3						19	3	---	---	---	---
AFG3L1P	172	broad.mit.edu	37	16	90056104	90056104	+	RNA	DEL	T	T	-	rs561549639|rs36089706	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr16:90056104delT	ENST00000437774.1	+	0	831					NR_003226.1				AFG3-like AAA ATPase 1, pseudogene																		CCTTTCAGAAttttttttttt	0.547													|||unknown(HR)	725	0.144768	0.1097	0.1081	5008	,	,		15444	0.2827		0.0785	False		,,,				2504	0.1442					ENST00000437774.1																			0																																																			0							g.chr16:90056104delT	AJ001495		16q24.3	2013-10-17	2013-10-17	2010-10-28	ENSG00000223959	ENSG00000223959		"""ATPases / AAA-type"""	314	pseudogene	pseudogene		603020	"""AFG3 ATPase family gene 3-like 1 (S. cerevisiae), pseudogene"", ""AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene"""	AFG3, AFG3L1		9545647, 11549317	Standard	NR_003228		Approved		uc002fpz.1		OTTHUMG00000138987		16.37:g.90056104delT								NR_003226.1						0	831	+									RNA	DEL	ENST00000437774.1	37																																																																																						0.547	AFG3L1P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316791.1	NR_003226		3	3						3	3	---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5594052	5594066	+	In_Frame_Del	DEL	CGCTCCCGCTCCATG	CGCTCCCGCTCCATG	-	rs568647516|rs548751633	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:5594052_5594066delCGCTCCCGCTCCATG	ENST00000252542.4	-	15	2307_2321	c.2043_2057delCATGGAGCGGGAGCG	c.(2041-2058)cgcatggagcgggagcgg>cgg	p.681_686RMERER>R		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	681	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCGCTCCAGCCGCTCCCGCTCCATGCGCTCCCGCT	0.716																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2041-2058)cgg>cg		scaffold attachment factor B2																																				SO:0001651	inframe_deletion	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5594052_5594066delCGCTCCCGCTCCATG	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2043_2057delCATGGAGCGGGAGCG	19.37:g.5594052_5594066delCGCTCCCGCTCCATG	ENSP00000252542:p.Arg681_Glu685del						p.RMERER681del	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	15	2307_2321	-			681			Arg-rich.|Glu-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	In_Frame_Del	DEL	ENST00000252542.4	37	c.2043_2057delCATGGAGCGGGAGCG	CCDS32879.1																																																																																				0.716	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		14	11						14	11	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11051960	11051960	+	RNA	DEL	T	T	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr21:11051960delT	ENST00000470054.1	-	0	487							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gtaactgcagtttttgacatt	0.338																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11051960delT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11051960delT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	487	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.338	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11063160	11063161	+	RNA	INS	-	-	A	rs372466033|rs147852817		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr21:11063160_11063161insA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aaacgctatccaaaaaatgcag	0.282																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11063160_11063161insA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11063166_11063166dupA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.282	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11068910	11068911	+	RNA	DEL	AT	AT	-	rs200427960|rs4009918		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr21:11068910_11068911delAT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ttctcttatcatatgtgtaatt	0.282																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11068910_11068911delAT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11068912_11068913delAT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.282	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	5						4	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11075075	11075077	+	RNA	DEL	ACC	ACC	-	rs4009967		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr21:11075075_11075077delACC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ttgagaaactaccacttctcaag	0.325																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11075075_11075077delACC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11075075_11075077delACC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.325	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
