#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
MRPL23	6150	broad.mit.edu	37	11	1977593	1977593	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:1977593G>A	ENST00000397298.3	+	5	490	c.405G>A	c.(403-405)caG>caA	p.Q135Q	MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000381519.1_Silent_p.Q135Q|MRPL23_ENST00000397297.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	135					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGGAGAGGCAGCAGAGGCAGA	0.682																																						ENST00000397298.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(403-405)caG>caA		mitochondrial ribosomal protein L23							51.0	51.0	51.0					11																	1977593		2202	4299	6501	SO:0001819	synonymous_variant	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1977593G>A	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.405G>A	11.37:g.1977593G>A						MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Silent_p.Q135Q|MRPL23_ENST00000381514.3_Intron	p.Q135Q	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	5	490	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	135					A8MT29|Q96Q71	Silent	SNP	ENST00000397298.3	37	c.405G>A	CCDS31336.1																																																																																				0.682	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		4	81	0	0	0	1	0	4	81				
MED31	51003	broad.mit.edu	37	17	6553677	6553677	+	Splice_Site	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr17:6553677A>G	ENST00000225728.3	-	2	210	c.105T>C	c.(103-105)aaT>aaC	p.N35N	MED31_ENST00000575197.1_Splice_Site_p.N35N|MED31_ENST00000574128.1_5'UTR|C17orf100_ENST00000391428.2_5'Flank	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	35					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						ACAACTTACAATTAAGGTAAT	0.353																																						ENST00000225728.3																			0				cervix(1)|endometrium(1)|large_intestine(1)	3						c.e2+1		mediator complex subunit 31							118.0	113.0	115.0					17																	6553677		2203	4300	6503	SO:0001630	splice_region_variant	51003				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:6553677A>G	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"""mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"""			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.106+1T>C	17.37:g.6553677A>G						MED31_ENST00000575197.1_Splice_Site_p.N35_splice|MED31_ENST00000574128.1_5'UTR	p.N35_splice	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN			2	210	-			35					B2R4L9	Splice_Site	SNP	ENST00000225728.3	37	c.106_splice	CCDS11078.1																																																																																				0.353	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	NM_016060	Silent	6	185	0	0	0	1	0	6	185				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		3	73	0	0	0	1	0	3	73				
NONO	4841	broad.mit.edu	37	X	70511735	70511735	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrX:70511735G>A	ENST00000276079.8	+	4	466	c.261G>A	c.(259-261)gaG>gaA	p.E87E	NONO_ENST00000535149.1_5'UTR|NONO_ENST00000373841.1_Silent_p.E87E|NONO_ENST00000373856.3_Silent_p.E87E	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	87	DBHS.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					ACATCACTGAGGAAGAAATGA	0.423			T	TFE3	papillary renal cancer																																	ENST00000276079.8				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(259-261)gaG>gaA		non-POU domain containing, octamer-binding							83.0	79.0	80.0					X																	70511735		2203	4297	6500	SO:0001819	synonymous_variant	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70511735G>A	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.261G>A	X.37:g.70511735G>A						NONO_ENST00000373841.1_Silent_p.E87E|NONO_ENST00000373856.3_Silent_p.E87E|NONO_ENST00000535149.1_5'UTR	p.E87E	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN			4	466	+	Renal(35;0.156)		87			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Silent	SNP	ENST00000276079.8	37	c.261G>A	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	g	8.746	0.920121	0.17982	.	.	ENSG00000147140	ENST00000418921	.	.	.	4.99	3.07	0.35406	.	.	.	.	.	T	0.59224	0.2178	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55528	-0.8127	4	.	.	.	-11.9147	9.5986	0.39589	0.2559:0.0:0.744:0.0	.	.	.	.	K	6	.	.	R	+	2	0	NONO	70428460	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.013000	0.29937	1.101000	0.41535	0.529000	0.55759	AGG		0.423	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		10	99	0	0	0	1	0	10	99				
GALT	2592	broad.mit.edu	37	9	34647938	34647938	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:34647938G>A	ENST00000378842.3	+	5	529	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	GALT_ENST00000450095.2_Missense_Mutation_p.A54T|GALT_ENST00000556278.1_Intron|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	163					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGAGCTGGGTGCCCAGTACCC	0.587									Galactosemia																													ENST00000378842.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(487-489)Gcc>Acc		galactose-1-phosphate uridylyltransferase							72.0	68.0	69.0					9																	34647938		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34647938G>A	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.487G>A	9.37:g.34647938G>A	ENSP00000368119:p.Ala163Thr					GALT_ENST00000450095.2_Missense_Mutation_p.A54T|GALT_ENST00000556278.1_Intron	p.A163T	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	5	529	+	all_epithelial(49;0.102)		163					B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.487G>A	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527546	0.44969	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99454	-5.92;-5.92	5.3	3.35	0.38373	Histidine triad motif (1);Histidine triad-like motif (1);Galactose-1-phosphate uridyl transferase, N-terminal (1);	0.499317	0.17550	U	0.170211	D	0.97986	0.9337	L	0.49699	1.58	0.43211	D	0.995071	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.13407	0.005;0.009;0.005	D	0.98083	1.0405	10	0.44086	T	0.13	-4.9035	9.6665	0.39988	0.0749:0.0:0.7851:0.14	.	115;54;163	B4DT62;E7ET32;P07902	.;.;GALT_HUMAN	T	54;163	ENSP00000401956:A54T;ENSP00000368119:A163T	ENSP00000368119:A163T	A	+	1	0	GALT	34637938	0.958000	0.32768	1.000000	0.80357	0.988000	0.76386	1.391000	0.34475	1.228000	0.43614	0.655000	0.94253	GCC		0.587	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		30	44	0	0	0	1	0	30	44				
MT-CO1	4512	broad.mit.edu	37	M	6480	6480	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrM:6480G>A	ENST00000361624.2	+	1	577	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TN_ENST00000387400.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	193					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|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 IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TAATCACAGCAGTCCTACTTC	0.498																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(577-579)Gtc>Atc		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6480G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.577G>A	M.37:g.6480G>A	ENSP00000354499:p.Val193Ile						p.193_193insI							1	577	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.577G>A																																																																																					0.498	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		4	22	0	0	0	1	0	4	22				
NAV1	89796	broad.mit.edu	37	1	201779154	201779154	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:201779154G>A	ENST00000367296.4	+	23	4902	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V	NAV1_ENST00000367295.1_Silent_p.V1100V|NAV1_ENST00000367297.4_Silent_p.V1486V|NAV1_ENST00000367300.3_Silent_p.V1434V|NAV1_ENST00000367302.1_Silent_p.V1447V|MIR1231_ENST00000408101.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.V1491V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1494					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCAGCCACGTGAAACGAGTGT	0.517																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4480-4482)gtG>gtA		neuron navigator 1							122.0	102.0	109.0					1																	201779154		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779154G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4482G>A	1.37:g.201779154G>A						IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.V1100V|NAV1_ENST00000367302.1_Silent_p.V1447V|NAV1_ENST00000295624.6_Silent_p.V1491V|NAV1_ENST00000367297.4_Silent_p.V1486V|NAV1_ENST00000367300.3_Silent_p.V1434V	p.V1494V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			23	4902	+			1494					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.4482G>A	CCDS1414.2																																																																																				0.517	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		15	139	0	0	0	1	0	15	139				
HNF4A	3172	broad.mit.edu	37	20	43043255	43043255	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr20:43043255T>A	ENST00000316099.4	+	5	690	c.601T>A	c.(601-603)Tgg>Agg	p.W201R	HNF4A_ENST00000609795.1_Missense_Mutation_p.W179R|HNF4A_ENST00000443598.2_Missense_Mutation_p.W201R|HNF4A_ENST00000316673.4_Missense_Mutation_p.W179R|HNF4A_ENST00000415691.2_Missense_Mutation_p.W201R|HNF4A_ENST00000457232.1_Missense_Mutation_p.W179R	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	201					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCGTTGAGTGGGCCAAGTA	0.622																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(601-603)Tgg>Agg		hepatocyte nuclear factor 4, alpha							109.0	81.0	91.0					20																	43043255		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43043255T>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.601T>A	20.37:g.43043255T>A	ENSP00000312987:p.Trp201Arg					HNF4A_ENST00000457232.1_Missense_Mutation_p.W179R|HNF4A_ENST00000443598.2_Missense_Mutation_p.W201R|HNF4A_ENST00000415691.1_Missense_Mutation_p.W201R	p.W201R	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	690	+		Myeloproliferative disorder(115;0.0122)	201					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.601T>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.729630	0.89390	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	5.75	5.75	0.90469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.98199	4.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99486	1.0949	10	0.87932	D	0	.	16.0671	0.80891	0.0:0.0:0.0:1.0	.	194;201;201;201;179;179;179	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	R	179;179;201;201;231;201	ENSP00000315180:W179R;ENSP00000396216:W179R;ENSP00000312987:W201R;ENSP00000410911:W201R;ENSP00000412111:W201R	ENSP00000312987:W201R	W	+	1	0	HNF4A	42476669	1.000000	0.71417	0.990000	0.47175	0.943000	0.58893	8.040000	0.89188	2.192000	0.70111	0.460000	0.39030	TGG		0.622	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			5	32	0	0	0	1	0	5	32				
MT-CO1	4512	broad.mit.edu	37	M	6984	6984	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrM:6984T>C	ENST00000361624.2	+	1	1081	c.1081T>C	c.(1081-1083)Tca>Cca	p.S361P	MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TN_ENST00000387400.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	361					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|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 IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TATTAGCAAACTCATCACTAG	0.453																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1081-1083)Tca>Cca		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6984T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1081T>C	M.37:g.6984T>C	ENSP00000354499:p.Ser361Pro						p.361_361insP							1	1081	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.1081T>C																																																																																					0.453	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		5	21	0	0	0	1	0	5	21				
BCL9	607	broad.mit.edu	37	1	147084886	147084886	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:147084886G>T	ENST00000234739.3	+	5	998	c.258G>T	c.(256-258)aaG>aaT	p.K86N	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	86					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGGGCTGAAGAATGGGGCTG	0.592			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(256-258)aaG>aaT		B-cell CLL/lymphoma 9							38.0	41.0	40.0					1																	147084886		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147084886G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.258G>T	1.37:g.147084886G>T	ENSP00000234739:p.Lys86Asn					BCL9_ENST00000473292.1_Intron	p.K86N	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			5	998	+	all_hematologic(923;0.115)		86					Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.258G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535980	0.85812	.	.	ENSG00000116128	ENST00000234739	T	0.71817	-0.6	5.4	5.4	0.78164	.	0.049063	0.85682	D	0.000000	T	0.79393	0.4438	L	0.54323	1.7	0.58432	D	0.999999	D	0.71674	0.998	D	0.78314	0.991	T	0.79895	-0.1610	10	0.72032	D	0.01	-14.6297	19.3659	0.94461	0.0:0.0:1.0:0.0	.	86	O00512	BCL9_HUMAN	N	86	ENSP00000234739:K86N	ENSP00000234739:K86N	K	+	3	2	BCL9	145551510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.561000	0.53770	2.797000	0.96272	0.655000	0.94253	AAG		0.592	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		20	50	1	0	1.96292e-10	1	1.96292e-10	20	50				
MPDZ	8777	broad.mit.edu	37	9	13125351	13125351	+	Silent	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:13125351T>C	ENST00000319217.7	-	35	4918	c.4671A>G	c.(4669-4671)aaA>aaG	p.K1557K	MPDZ_ENST00000538841.1_Silent_p.K416K|MPDZ_ENST00000381015.4_Silent_p.K1557K|MPDZ_ENST00000541718.1_Silent_p.K1557K|MPDZ_ENST00000447879.1_Silent_p.K1524K|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000546205.1_Silent_p.K1571K|MPDZ_ENST00000381022.2_Silent_p.K1557K|MPDZ_ENST00000536827.1_Silent_p.K1524K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1557	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGATGGTAAGTTTTACTGTCA	0.443																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(4669-4671)aaA>aaG		multiple PDZ domain protein							110.0	107.0	108.0					9																	13125351		1895	4115	6010	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13125351T>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4671A>G	9.37:g.13125351T>C						MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Silent_p.K1557K|MPDZ_ENST00000381015.4_Silent_p.K1557K|MPDZ_ENST00000546205.1_Silent_p.K1571K|MPDZ_ENST00000447879.1_Silent_p.K1524K|MPDZ_ENST00000538841.1_Silent_p.K416K|MPDZ_ENST00000541718.1_Silent_p.K1557K|MPDZ_ENST00000536827.1_Silent_p.K1524K	p.K1557K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	35	4918	-			1557			PDZ 9.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.4671A>G																																																																																					0.443	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		29	32	0	0	0	1	0	29	32				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	60	0	0	0	1	0	5	60				
PDZD2	23037	broad.mit.edu	37	5	32089285	32089285	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr5:32089285A>G	ENST00000438447.1	+	20	6119	c.5731A>G	c.(5731-5733)Acg>Gcg	p.T1911A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1911					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGGGGGACGGACCACAG	0.582																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5731-5733)Acg>Gcg		PDZ domain containing 2							87.0	91.0	90.0					5																	32089285		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089285A>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5731A>G	5.37:g.32089285A>G	ENSP00000402033:p.Thr1911Ala					PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A	p.T1911A			O15018	PDZD2_HUMAN			20	6119	+			1911					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.5731A>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786466	0.31593	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06849	3.25;3.25	5.42	-10.8	0.00216	.	2.256200	0.01793	N	0.032409	T	0.04679	0.0127	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31752	-0.9932	10	0.07990	T	0.79	.	6.2753	0.20977	0.1704:0.2236:0.5047:0.1013	.	1911	O15018	PDZD2_HUMAN	A	1911;1712;1911	ENSP00000402033:T1911A;ENSP00000282493:T1911A	ENSP00000282493:T1911A	T	+	1	0	PDZD2	32125042	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.385000	0.01062	-2.381000	0.00594	-0.331000	0.08364	ACG		0.582	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			3	154	0	0	0	1	0	3	154				
CNRIP1	25927	broad.mit.edu	37	2	68544345	68544345	+	Missense_Mutation	SNP	C	C	T	rs34128476	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:68544345C>T	ENST00000263655.3	-	2	879	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CNRIP1_ENST00000409559.3_Missense_Mutation_p.E92K|CNRIP1_ENST00000409862.1_Missense_Mutation_p.E92K|CNRIP1_ENST00000481714.1_5'UTR	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	92										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						GTCACACCTTCTGTGTCATAT	0.493																																						ENST00000263655.3																			0				kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						c.(274-276)Gaa>Aaa		cannabinoid receptor interacting protein 1							180.0	151.0	161.0					2																	68544345		2203	4300	6503	SO:0001583	missense	25927						protein binding	g.chr2:68544345C>T	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.274G>A	2.37:g.68544345C>T	ENSP00000263655:p.Glu92Lys					CNRIP1_ENST00000409559.3_Missense_Mutation_p.E92K|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Missense_Mutation_p.E92K	p.E92K	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN			2	879	-			92					B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	ENST00000263655.3	37	c.274G>A	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738571	0.89573	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.998	D;P;D	0.85130	0.997;0.879;0.994	T	0.64647	-0.6358	9	0.32370	T	0.25	-0.2662	17.0178	0.86424	0.0:1.0:0.0:0.0	.	92;92;92	B8ZZB8;Q96F85;Q96F85-2	.;CNRP1_HUMAN;.	K	92	.	ENSP00000263655:E92K	E	-	1	0	CNRIP1	68397849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.049000	0.76613	2.697000	0.92050	0.555000	0.69702	GAA		0.493	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		38	72	0	0	0	1	0	38	72				
ALDH5A1	7915	broad.mit.edu	37	6	24505158	24505158	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr6:24505158C>T	ENST00000357578.3	+	4	816	c.671C>T	c.(670-672)aCt>aTt	p.T224I	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.T136I|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.T224I|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.T196I	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	224					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GCCGGCTGTACTGTCGTGGTG	0.592																																						ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(670-672)aCt>aTt		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						74.0	77.0	76.0					6																	24505158		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24505158C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.671C>T	6.37:g.24505158C>T	ENSP00000350191:p.Thr224Ile					ALDH5A1_ENST00000546278.1_Missense_Mutation_p.T136I|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.T196I|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.T224I	p.T224I	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			4	816	+			224					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.671C>T	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222635	0.39300	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	4.84	3.96	0.45880	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.052048	0.85682	D	0.000000	D	0.86176	0.5870	H	0.97023	3.925	0.80722	D	1	P;P	0.36959	0.575;0.52	B;B	0.42625	0.393;0.273	D	0.89884	0.4032	10	0.87932	D	0	-13.9473	15.5697	0.76323	0.0:0.8616:0.1384:0.0	.	224;224	P51649;G5E949	SSDH_HUMAN;.	I	224;136;196;224	ENSP00000350191:T224I;ENSP00000438193:T136I;ENSP00000417687:T196I;ENSP00000314649:T224I	ENSP00000314649:T224I	T	+	2	0	ALDH5A1	24613137	1.000000	0.71417	0.881000	0.34555	0.081000	0.17604	5.590000	0.67530	1.389000	0.46526	0.655000	0.94253	ACT		0.592	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			79	102	0	0	0	1	0	79	102				
ZBTB49	166793	broad.mit.edu	37	4	4322849	4322849	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr4:4322849G>A	ENST00000337872.4	+	8	2225	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000538529.1_Missense_Mutation_p.E185K|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E580K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	702					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGCCGGTGGCGAACCACTGCA	0.602																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(2104-2106)Gaa>Aaa		zinc finger and BTB domain containing 49							55.0	52.0	53.0					4																	4322849		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322849G>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.2104G>A	4.37:g.4322849G>A	ENSP00000338807:p.Glu702Lys					ZBTB49_ENST00000538529.1_Missense_Mutation_p.E185K|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E580K	p.E702K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			8	2225	+			702					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.2104G>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180719	0.21787	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.14766	2.48;2.86;3.17	4.6	1.74	0.24563	.	0.429787	0.19133	N	0.121881	T	0.09818	0.0241	L	0.58101	1.795	0.09310	N	1	P;P	0.46859	0.885;0.739	B;B	0.31101	0.124;0.091	T	0.36335	-0.9752	10	0.02654	T	1	.	15.5341	0.75990	0.0:0.4146:0.5854:0.0	.	580;702	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	K	580;702;185	ENSP00000348091:E580K;ENSP00000338807:E702K;ENSP00000445653:E185K	ENSP00000338807:E702K	E	+	1	0	ZBTB49	4373750	0.596000	0.26866	0.013000	0.15412	0.038000	0.13279	2.125000	0.42016	0.088000	0.17205	0.557000	0.71058	GAA		0.602	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		3	68	0	0	0	1	0	3	68				
RELT	84957	broad.mit.edu	37	11	73105583	73105583	+	Missense_Mutation	SNP	G	G	A	rs146155880		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:73105583G>A	ENST00000064780.2	+	9	1111	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	RELT_ENST00000393580.2_Missense_Mutation_p.V284M|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	284						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TCTCCACACCGTGCAGGGCCT	0.697																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(850-852)Gtg>Atg		RELT tumor necrosis factor receptor		G	MET/VAL,MET/VAL	1,4397	2.1+/-5.4	0,1,2198	52.0	56.0	55.0		850,850	5.0	1.0	11	dbSNP_134	55	0,8584		0,0,4292	no	missense,missense	RELT	NM_032871.3,NM_152222.1	21,21	0,1,6490	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	284/431,284/431	73105583	1,12981	2199	4292	6491	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73105583G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.850G>A	11.37:g.73105583G>A	ENSP00000064780:p.Val284Met					RELT_ENST00000393580.2_Missense_Mutation_p.V284M	p.V284M	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			9	1111	+			284					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.850G>A	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679349	0.88542	2.27E-4	0.0	ENSG00000054967	ENST00000064780;ENST00000393580;ENST00000438119	D;D	0.82803	-1.65;-1.65	5.04	5.04	0.67666	.	0.168780	0.41605	D	0.000856	D	0.90150	0.6922	M	0.77313	2.365	0.40414	D	0.979775	D	0.76494	0.999	P	0.61722	0.893	D	0.91745	0.5407	10	0.87932	D	0	-13.6782	17.5517	0.87878	0.0:0.0:1.0:0.0	.	284	Q969Z4	TR19L_HUMAN	M	284;284;152	ENSP00000064780:V284M;ENSP00000377207:V284M	ENSP00000064780:V284M	V	+	1	0	RELT	72783231	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	5.156000	0.64905	2.618000	0.88619	0.655000	0.94253	GTG		0.697	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		4	146	0	0	0	1	0	4	146				
ACTA1	58	broad.mit.edu	37	1	229568532	229568532	+	Silent	SNP	G	G	A	rs577764297		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:229568532G>A	ENST00000366684.3	-	3	327	c.225C>T	c.(223-225)caC>caT	p.H75H	ACTA1_ENST00000366683.2_Silent_p.H75H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	75			H -> L (in NEM3). {ECO:0000269|PubMed:15236405}.|H -> R (in NEM3). {ECO:0000269|PubMed:15236405}.		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGATGATGCCGTGCTCGATAG	0.582																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(223-225)caC>caT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						88.0	86.0	86.0					1																	229568532		2203	4300	6503	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568532G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.225C>T	1.37:g.229568532G>A						ACTA1_ENST00000366683.2_Silent_p.H75H	p.H75H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			3	327	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	75		H -> L (in NEM3).|H -> R (in NEM3).			P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.225C>T	CCDS1578.1																																																																																				0.582	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		4	200	0	0	0	1	0	4	200				
SETD5	55209	broad.mit.edu	37	3	9517666	9517666	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:9517666C>T	ENST00000406341.1	+	22	4410	c.4220C>T	c.(4219-4221)gCg>gTg	p.A1407V	SETD5_ENST00000302463.6_Missense_Mutation_p.A1309V|SETD5_ENST00000402198.1_Missense_Mutation_p.A1407V|SETD5_ENST00000407969.1_Missense_Mutation_p.A1426V|SETD5_ENST00000402466.1_Missense_Mutation_p.A1309V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1407	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGGTATCTGCGGTTTCCAAT	0.567																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3925-3927)gCg>gTg		SET domain containing 5							60.0	58.0	59.0					3																	9517666		1990	4175	6165	SO:0001583	missense	55209							g.chr3:9517666C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.4220C>T	3.37:g.9517666C>T	ENSP00000383939:p.Ala1407Val					SETD5_ENST00000406341.1_Missense_Mutation_p.A1407V|SETD5_ENST00000302463.6_Missense_Mutation_p.A1309V|SETD5_ENST00000407969.1_Missense_Mutation_p.A1426V|SETD5_ENST00000402198.1_Missense_Mutation_p.A1407V	p.A1309V			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	24	4694	+	Medulloblastoma(99;0.227)		1407			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.3926C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253260	0.39797	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93488	-2.89;-3.23;-2.89;-2.87;-3.23	5.17	5.17	0.71159	.	0.165152	0.41605	D	0.000853	D	0.84862	0.5566	N	0.14661	0.345	0.34471	D	0.702794	B;B;B	0.31817	0.341;0.03;0.014	B;B;B	0.19148	0.024;0.012;0.005	D	0.87431	0.2388	10	0.39692	T	0.17	-7.2705	12.8703	0.57960	0.0:0.9147:0.0:0.0853	.	1076;1309;1407	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	V	1407;1309;1407;1426;1309	ENSP00000385852:A1407V;ENSP00000384429:A1309V;ENSP00000383939:A1407V;ENSP00000384114:A1426V;ENSP00000302028:A1309V	ENSP00000302028:A1309V	A	+	2	0	SETD5	9492666	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.293000	0.51779	2.558000	0.86282	0.467000	0.42956	GCG		0.567	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		15	40	0	0	0	1	0	15	40				
MSI1	4440	broad.mit.edu	37	12	120794808	120794808	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr12:120794808T>G	ENST00000257552.2	-	9	637	c.549A>C	c.(547-549)aaA>aaC	p.K183N	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	183	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGCTGAGCTTTCTTACATT	0.542											OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(547-549)aaA>aaC		musashi RNA-binding protein 1							110.0	91.0	98.0					12																	120794808		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120794808T>G	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.549A>C	12.37:g.120794808T>G	ENSP00000257552:p.Lys183Asn		OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1506	MSI1_ENST00000546622.1_5'UTR	p.K183N	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			9	637	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		183			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.549A>C	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.52|18.52	3.641406|3.641406	0.67244|0.67244	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000257552|ENST00000546985	D|D	0.90069|0.90563	-2.61|-2.69	4.1|4.1	4.1|4.1	0.47936|0.47936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.164836|0.164836	0.40222|0.40222	N|N	0.001150|0.001150	D|D	0.92463|0.92463	0.7607|0.7607	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	P|.	0.52061|.	0.95|.	P|.	0.55667|.	0.781|.	D|D	0.92468|0.92468	0.5983|0.5983	10|8	0.87932|0.87932	D|D	0|0	.|.	7.045|7.045	0.25040|0.25040	0.0:0.173:0.0:0.827|0.0:0.173:0.0:0.827	.|.	183|.	O43347|.	MSI1H_HUMAN|.	N|T	183|115	ENSP00000257552:K183N|ENSP00000446710:K115T	ENSP00000257552:K183N|ENSP00000446710:K115T	K|K	-|-	3|2	2|0	MSI1|MSI1	119279191|119279191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	1.226000|1.226000	0.32563|0.32563	2.075000|2.075000	0.62263|0.62263	0.459000|0.459000	0.35465|0.35465	AAA|AAG		0.542	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		9	55	0	0	0	1	0	9	55				
TTC38	55020	broad.mit.edu	37	22	46669963	46669963	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr22:46669963A>G	ENST00000381031.3	+	4	438	c.362A>G	c.(361-363)aAt>aGt	p.N121S	TTC38_ENST00000445282.2_Missense_Mutation_p.N121S	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	121						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACATTTGCCAATGGGTGAGGG	0.632																																						ENST00000381031.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.(361-363)aAt>aGt		tetratricopeptide repeat domain 38							34.0	37.0	36.0					22																	46669963		2042	4207	6249	SO:0001583	missense	55020						binding	g.chr22:46669963A>G		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.362A>G	22.37:g.46669963A>G	ENSP00000370419:p.Asn121Ser					TTC38_ENST00000445282.2_Missense_Mutation_p.N121S	p.N121S	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN			4	438	+			121					Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	c.362A>G	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	A	5.630	0.300929	0.10678	.	.	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	T;T;T	0.77098	0.87;-1.07;0.03	5.66	4.61	0.57282	Tetratricopeptide-like helical (1);	0.429217	0.28290	N	0.015887	T	0.60971	0.2310	L	0.29908	0.895	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.15052	0.012;0.004	T	0.49194	-0.8965	10	0.09590	T	0.72	-0.0094	6.7502	0.23483	0.7615:0.1554:0.0831:0.0	.	121;121	E7ES35;Q5R3I4	.;TTC38_HUMAN	S	121	ENSP00000370419:N121S;ENSP00000393960:N121S;ENSP00000410095:N121S	ENSP00000370419:N121S	N	+	2	0	TTC38	45048627	0.972000	0.33761	0.997000	0.53966	0.562000	0.35680	1.898000	0.39809	0.944000	0.37579	0.528000	0.53228	AAT		0.632	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		4	38	0	0	0	1	0	4	38				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	338	0	0	0	1	0	4	338				
COL5A1	1289	broad.mit.edu	37	9	137721851	137721851	+	Silent	SNP	C	C	T	rs138396959		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:137721851C>T	ENST00000371817.3	+	64	5511	c.5097C>T	c.(5095-5097)aaC>aaT	p.N1699N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1699	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGAAAACCCGGGCTCCT	0.537																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5095-5097)aaC>aaT		collagen, type V, alpha 1							74.0	70.0	71.0					9																	137721851		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137721851C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5097C>T	9.37:g.137721851C>T							p.N1699N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	64	5511	+		Myeloproliferative disorder(178;0.0341)	1699			Fibrillar collagen NC1.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.5097C>T	CCDS6982.1																																																																																				0.537	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		5	21	0	0	0	1	0	5	21				
NIN	51199	broad.mit.edu	37	14	51192784	51192784	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr14:51192784C>T	ENST00000382041.3	-	30	6269	c.6079G>A	c.(6079-6081)Gga>Aga	p.G2027R	NIN_ENST00000389868.3_3'UTR|NIN_ENST00000245441.5_Splice_Site_p.G2027R|NIN_ENST00000382043.4_Splice_Site_p.G1314R|NIN_ENST00000530997.2_Splice_Site_p.G2027R|RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000324330.9_3'UTR	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2027					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCTGGTTTCCCTGAAGGGAA	0.378			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.e30-1		ninein (GSK3B interacting protein)							124.0	109.0	114.0					14																	51192784		2203	4300	6503	SO:0001630	splice_region_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51192784C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6079-1G>A	14.37:g.51192784C>T						NIN_ENST00000530997.2_Splice_Site_p.G2027_splice|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000382043.4_Splice_Site_p.G1314_splice|NIN_ENST00000382041.3_Splice_Site_p.G2027_splice|NIN_ENST00000324330.9_3'UTR	p.G2027_splice	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			30	6269	-	all_epithelial(31;0.00244)|Breast(41;0.127)		2027					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Splice_Site	SNP	ENST00000382041.3	37	c.6078_splice	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.852617|2.852617	0.51270|0.51270	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869|ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041	.|T;T;T	.|0.28895	.|1.59;2.77;3.27	5.93|5.93	4.1|4.1	0.47936|0.47936	.|.	0.613165|0.613165	0.17764|0.17764	N|N	0.162794|0.162794	T|T	0.33059|0.33059	0.0850|0.0850	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B;B;P;B	.|0.49559	.|0.081;0.029;0.925;0.029	.|B;B;P;B	.|0.46885	.|0.034;0.011;0.53;0.011	T|T	0.04796|0.04796	-1.0926|-1.0926	6|10	.|0.23891	.|T	.|0.37	-1.2052|-1.2052	9.5223|9.5223	0.39143|0.39143	0.0:0.7845:0.0:0.2155|0.0:0.7845:0.0:0.2155	.|.	.|2033;2027;1314;2027	.|Q8N4C6-5;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;NIN_HUMAN;.;.	E|R	1517|2027;2010;1314;2033;2027	.|ENSP00000245441:G2027R;ENSP00000371474:G1314R;ENSP00000371472:G2027R	.|ENSP00000245441:G2027R	G|G	-|-	2|1	0|0	NIN|NIN	50262534|50262534	0.981000|0.981000	0.34729|0.34729	0.981000|0.981000	0.43875|0.43875	0.717000|0.717000	0.41224|0.41224	2.503000|2.503000	0.45407|0.45407	1.515000|1.515000	0.48885|0.48885	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.378	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	Missense_Mutation	19	36	0	0	0	1	0	19	36				
ATP6V0B	533	broad.mit.edu	37	1	44442971	44442971	+	Intron	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:44442971C>T	ENST00000472174.2	+	7	984				B4GALT2_ENST00000372324.1_5'Flank|B4GALT2_ENST00000356836.6_5'Flank|ATP6V0B_ENST00000532642.1_Missense_Mutation_p.P225L|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000471859.2_Intron|B4GALT2_ENST00000309519.7_5'Flank|ATP6V0B_ENST00000498664.1_Intron|B4GALT2_ENST00000434555.2_5'Flank	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AAGTGCTCTCCTTCTCTACCT	0.478																																						ENST00000532642.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(673-675)cCt>cTt		ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b																																				SO:0001627	intron_variant	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44442971C>T	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.591+83C>T	1.37:g.44442971C>T						ATP6V0B_ENST00000498664.1_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000472174.2_Intron|ATP6V0B_ENST00000471859.2_Intron	p.P225L			Q99437	VATO_HUMAN			7	771	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	116					D3DPY5|Q6IB32	Missense_Mutation	SNP	ENST00000472174.2	37	c.674C>T	CCDS505.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416486	0.25552	.	.	ENSG00000117410	ENST00000532642	.	.	.	3.66	0.809	0.18725	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22347	-1.0219	6	.	.	.	.	5.7798	0.18299	0.0:0.6541:0.0:0.3459	.	225	E9PNL3	.	L	225	.	.	P	+	2	0	ATP6V0B	44215558	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.219000	0.09228	0.193000	0.20303	-0.119000	0.15052	CCT		0.478	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047		5	9	0	0	0	1	0	5	9				
MAGED2	10916	broad.mit.edu	37	X	54841926	54841926	+	Silent	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrX:54841926T>C	ENST00000375068.1	+	12	1865	c.1632T>C	c.(1630-1632)agT>agC	p.S544S	MAGED2_ENST00000396224.1_Silent_p.S544S|MAGED2_ENST00000375053.2_Silent_p.S544S|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000347546.4_Silent_p.S526S|MAGED2_ENST00000375060.1_Silent_p.S459S|MAGED2_ENST00000375058.1_Silent_p.S544S|MAGED2_ENST00000375062.4_Silent_p.S459S|MAGED2_ENST00000218439.4_Silent_p.S544S			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	544						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CCCAAGAGAGTGGcagtgcca	0.617																																						ENST00000375068.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1630-1632)agT>agC		melanoma antigen family D, 2							30.0	25.0	27.0					X																	54841926		2196	4296	6492	SO:0001819	synonymous_variant	10916							g.chrX:54841926T>C	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1632T>C	X.37:g.54841926T>C						MAGED2_ENST00000396224.1_Silent_p.S544S|MAGED2_ENST00000347546.3_Silent_p.S488S|MAGED2_ENST00000218439.4_Silent_p.S544S|MAGED2_ENST00000375053.2_Silent_p.S544S|MAGED2_ENST00000375058.1_Silent_p.S544S|MAGED2_ENST00000375060.1_Silent_p.S459S|MAGED2_ENST00000375062.4_Silent_p.S459S|MAGED2_ENST00000343474.6_Silent_p.S526S	p.S544S			Q9UNF1	MAGD2_HUMAN			12	1865	+			544					A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	37	c.1632T>C	CCDS14362.1																																																																																				0.617	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		4	11	0	0	0	1	0	4	11				
MT-ND6	4541	broad.mit.edu	37	M	14414	14414	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrM:14414T>C	ENST00000361681.2	-	1	259	c.260A>G	c.(259-261)gAg>gGg	p.E87G	MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	87					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						TCACCAAGACCTCAACCCCTG	0.448																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(259-261)gAg>gGg		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14414T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.260A>G	M.37:g.14414T>C	ENSP00000354665:p.Glu87Gly						p.E87G							1	259	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.260A>G																																																																																					0.448	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		5	30	0	0	0	1	0	5	30				
PRMT3	10196	broad.mit.edu	37	11	20409654	20409654	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:20409654G>A	ENST00000331079.6	+	2	335	c.118G>A	c.(118-120)Gat>Aat	p.D40N	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	40					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGACGATGCAGATCTCCCCCA	0.677																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(118-120)Gat>Aat		protein arginine methyltransferase 3							81.0	74.0	77.0					11																	20409654		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20409654G>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.118G>A	11.37:g.20409654G>A	ENSP00000331879:p.Asp40Asn					PRMT3_ENST00000437750.2_Intron	p.D40N	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			2	335	+			40					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.118G>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780623	0.31502	.	.	ENSG00000185238	ENST00000331079;ENST00000541255	T	0.52295	0.67	5.84	5.84	0.93424	.	.	.	.	.	T	0.31136	0.0787	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08472	-1.0720	9	0.40728	T	0.16	.	11.4653	0.50235	0.1133:0.0:0.8867:0.0	.	40	O60678	ANM3_HUMAN	N	40	ENSP00000331879:D40N	ENSP00000331879:D40N	D	+	1	0	PRMT3	20366230	0.994000	0.37717	0.021000	0.16686	0.463000	0.32649	4.425000	0.59875	2.754000	0.94517	0.655000	0.94253	GAT		0.677	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		3	94	0	0	0	1	0	3	94				
TTL	150465	broad.mit.edu	37	2	113251935	113251935	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:113251935C>T	ENST00000233336.6	+	3	643	c.452C>T	c.(451-453)tCa>tTa	p.S151L		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	151	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATTGCAAAGTCATCAGCCGGT	0.428			T	ETV6	ALL																																	ENST00000233336.5				Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0				breast(1)|large_intestine(2)|ovary(1)	4						c.(451-453)tCa>tTa		tubulin tyrosine ligase							58.0	56.0	57.0					2																	113251935		2203	4300	6503	SO:0001583	missense	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113251935C>T		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.452C>T	2.37:g.113251935C>T	ENSP00000233336:p.Ser151Leu						p.S151L	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	3	643	+		Ovarian(717;0.024)	151			TTL.		Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	ENST00000233336.6	37	c.452C>T	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053638	0.93793	.	.	ENSG00000114999	ENST00000233336	T	0.06371	3.31	5.56	5.56	0.83823	.	0.054774	0.85682	D	0.000000	T	0.17577	0.0422	L	0.37630	1.12	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	T	0.00134	-1.2008	10	0.87932	D	0	.	18.6492	0.91423	0.0:1.0:0.0:0.0	.	151	Q8NG68	TTL_HUMAN	L	151	ENSP00000233336:S151L	ENSP00000233336:S151L	S	+	2	0	TTL	112968406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.553000	0.82203	2.779000	0.95612	0.561000	0.74099	TCA		0.428	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		16	35	0	0	0	1	0	16	35				
GRIK3	2899	broad.mit.edu	37	1	37356590	37356590	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:37356590G>A	ENST00000373091.3	-	2	239	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	GRIK3_ENST00000373093.4_Missense_Mutation_p.P75S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	75					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTTGTGTTGGGCAGCAGAGTC	0.527																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(223-225)Ccc>Tcc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						292.0	233.0	253.0					1																	37356590		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356590G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.223C>T	1.37:g.37356590G>A	ENSP00000362183:p.Pro75Ser					GRIK3_ENST00000373093.4_Missense_Mutation_p.P75S	p.P75S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			2	239	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	75					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.223C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158943	0.78226	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.85088	-1.94;-1.94	5.63	5.63	0.86233	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89406	0.6706	M	0.63428	1.95	0.80722	D	1	P;P	0.46656	0.808;0.882	P;P	0.54346	0.532;0.749	D	0.86755	0.1963	10	0.29301	T	0.29	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	75;75	A9Z1Z8;Q13003	.;GRIK3_HUMAN	S	75	ENSP00000362183:P75S;ENSP00000362185:P75S	ENSP00000362183:P75S	P	-	1	0	GRIK3	37129177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.860000	0.99555	2.644000	0.89710	0.650000	0.86243	CCC		0.527	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		5	215	0	0	0	1	0	5	215				
LMLN	89782	broad.mit.edu	37	3	197746190	197746190	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:197746190G>A	ENST00000330198.4	+	12	1321	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	LMLN_ENST00000482695.1_Silent_p.Q418Q|LMLN_ENST00000420910.2_Silent_p.Q470Q|LMLN_ENST00000332636.5_Silent_p.Q381Q	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	433					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTTGCAGACAGGACCAGAGAG	0.488																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1297-1299)caG>caA		leishmanolysin-like (metallopeptidase M8 family)							150.0	134.0	140.0					3																	197746190		2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197746190G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1299G>A	3.37:g.197746190G>A						LMLN_ENST00000482695.1_Silent_p.Q418Q|LMLN_ENST00000420910.2_Silent_p.Q470Q|LMLN_ENST00000332636.5_Silent_p.Q381Q	p.Q433Q	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	12	1321	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	433					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.1299G>A	CCDS3332.1																																																																																				0.488	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		3	105	0	0	0	1	0	3	105				
SLC1A6	6511	broad.mit.edu	37	19	15063783	15063783	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:15063783G>A	ENST00000221742.3	-	8	1463	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	SLC1A6_ENST00000600144.1_Missense_Mutation_p.P408S|SLC1A6_ENST00000430939.2_Missense_Mutation_p.P422S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	486					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TCTTCCGTGGGCAAGCCGACC	0.612																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1264-1266)Ccc>Tcc		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						195.0	150.0	166.0					19																	15063783		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15063783G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1456C>T	19.37:g.15063783G>A	ENSP00000221742:p.Pro486Ser					SLC1A6_ENST00000600144.1_Missense_Mutation_p.P408S|SLC1A6_ENST00000221742.3_Missense_Mutation_p.P486S	p.P422S			P48664	EAA4_HUMAN			8	1393	-			486					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1264C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	-	24.8	4.573036	0.86542	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.68903	-0.36;-0.36	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87145	0.2205	10	0.87932	D	0	-28.1013	14.8789	0.70516	0.0:0.0:1.0:0.0	.	422;486	E7EV13;P48664	.;EAA4_HUMAN	S	422;486	ENSP00000409386:P422S;ENSP00000221742:P486S	ENSP00000221742:P486S	P	-	1	0	SLC1A6	14924783	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.401000	0.97294	2.451000	0.82905	0.446000	0.29264	CCC		0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		4	213	0	0	0	1	0	4	213				
BSPRY	54836	broad.mit.edu	37	9	116116526	116116526	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:116116526A>G	ENST00000374183.4	+	2	247	c.208A>G	c.(208-210)Att>Gtt	p.I70V	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	70					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCAGAACAAGATTGTGGACCA	0.507																																						ENST00000374183.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(208-210)Att>Gtt		B-box and SPRY domain containing							120.0	128.0	125.0					9																	116116526		2120	4240	6360	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116116526A>G	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.208A>G	9.37:g.116116526A>G	ENSP00000363298:p.Ile70Val					BSPRY_ENST00000462085.1_3'UTR	p.I70V	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN			2	247	+			70					B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.208A>G	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271403	0.40194	.	.	ENSG00000119411	ENST00000374183	T	0.57107	0.42	5.01	3.85	0.44370	.	0.068566	0.56097	D	0.000025	T	0.36082	0.0954	L	0.27053	0.805	0.26583	N	0.973333	P;B	0.41041	0.736;0.302	B;B	0.35688	0.208;0.073	T	0.23940	-1.0174	10	0.66056	D	0.02	-9.451	9.7878	0.40686	0.6359:0.3641:0.0:0.0	.	70;70	Q5W0U4-2;Q5W0U4	.;BSPRY_HUMAN	V	70	ENSP00000363298:I70V	ENSP00000363298:I70V	I	+	1	0	BSPRY	115156347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.985000	0.40668	0.743000	0.32719	0.482000	0.46254	ATT		0.507	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		30	35	0	0	0	1	0	30	35				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	59	0	0	0	1	0	25	59				
TNKS	8658	broad.mit.edu	37	8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A	rs370349163		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr8:9609296G>A	ENST00000310430.6	+	19	3036	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1004					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		15309	0.001		0.0	False		,,,				2504	0.0					ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3010-3012)Gta>Ata		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		G	ILE/VAL	0,4406		0,0,2203	78.0	82.0	81.0		3010	5.7	0.9	8		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNKS	NM_003747.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1004/1328	9609296	1,13005	2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9609296G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3010G>A	8.37:g.9609296G>A	ENSP00000311579:p.Val1004Ile					TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	p.V1004I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	19	3036	+			1004					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3010G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004279	0.19199	0.0	1.16E-4	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.61859	0.07;0.14	5.73	5.73	0.89815	.	0.331114	0.32055	N	0.006645	T	0.45034	0.1322	N	0.19112	0.55	0.54753	D	0.999982	B	0.16396	0.017	B	0.09377	0.004	T	0.29941	-0.9995	10	0.18276	T	0.48	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	1004	O95271	TNKS1_HUMAN	I	1004;767	ENSP00000311579:V1004I;ENSP00000429890:V767I	ENSP00000311579:V1004I	V	+	1	0	TNKS	9646706	1.000000	0.71417	0.901000	0.35422	0.191000	0.23601	6.449000	0.73473	2.698000	0.92095	0.655000	0.94253	GTA		0.542	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		4	172	0	0	0	1	0	4	172				
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Missense_Mutation	SNP	A	A	C	rs370664533	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr20:62839353A>C	ENST00000328439.1	+	7	1168	c.804A>C	c.(802-804)gaA>gaC	p.E268D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.E268D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaC		myelin transcription factor 1							19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>C	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>C	20.37:g.62839353A>C	ENSP00000327465:p.Glu268Asp					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E268D	p.E268D			Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.804A>C	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	a	2.396	-0.338698	0.05243	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.26067	1.76;1.76	4.04	-2.32	0.06745	.	0.599767	0.13616	N	0.374760	T	0.09423	0.0232	N	0.08118	0	0.53688	D	0.999975	B	0.06786	0.001	B	0.06405	0.002	T	0.33954	-0.9848	10	0.12766	T	0.61	-2.5741	6.6854	0.23142	0.5634:0.1305:0.3061:0.0	.	268	Q01538	MYT1_HUMAN	D	268	ENSP00000327465:E268D;ENSP00000442412:E268D	ENSP00000327465:E268D	E	+	3	2	MYT1	62309797	0.136000	0.22515	0.035000	0.18076	0.041000	0.13682	-1.717000	0.01876	-0.461000	0.06993	-0.488000	0.04728	GAA		0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	9	0	0	0	1	0	3	9				
SLIT1	6585	broad.mit.edu	37	10	98816982	98816982	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:98816982T>C	ENST00000266058.4	-	12	1387	c.1142A>G	c.(1141-1143)tAc>tGc	p.Y381C	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Y381C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	381					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGTAGGGTGTATAGGCCTCC	0.572																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1141-1143)tAc>tGc		slit homolog 1 (Drosophila)							89.0	80.0	83.0					10																	98816982		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98816982T>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1142A>G	10.37:g.98816982T>C	ENSP00000266058:p.Tyr381Cys					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Y381C	p.Y381C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	12	1387	-		Colorectal(252;0.162)	381					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1142A>G	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272659	0.40194	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008	T;T;T	0.57752	0.38;0.38;0.38	5.62	3.12	0.35913	.	0.254676	0.40469	N	0.001097	T	0.52837	0.1759	N	0.25332	0.735	0.80722	D	1	P;D	0.54047	0.922;0.964	P;P	0.61070	0.883;0.806	T	0.49495	-0.8934	10	0.40728	T	0.16	.	10.3065	0.43683	0.3669:0.0:0.0:0.6331	.	391;381	E7EWQ8;O75093	.;SLIT1_HUMAN	C	381;391;357;381;374;357	ENSP00000266058:Y381C;ENSP00000360109:Y381C;ENSP00000315005:Y374C	ENSP00000266058:Y381C	Y	-	2	0	SLIT1	98806972	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.859000	0.39418	0.937000	0.37394	0.533000	0.62120	TAC		0.572	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		3	62	0	0	0	1	0	3	62				
CALCR	799	broad.mit.edu	37	7	93055811	93055811	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:93055811C>T	ENST00000394441.1	-	13	1597	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	CALCR_ENST00000426151.1_Missense_Mutation_p.A428T|CALCR_ENST00000421592.1_Missense_Mutation_p.A444T|CALCR_ENST00000360249.4_Missense_Mutation_p.A444T|CALCR_ENST00000359558.2_Missense_Mutation_p.A462T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	462					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCGGCTGCAGCGCGAGCAGAG	0.592																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1384-1386)Gct>Act		calcitonin receptor	Salmon Calcitonin(DB00017)						76.0	80.0	79.0					7																	93055811		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93055811C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1282G>A	7.37:g.93055811C>T	ENSP00000377959:p.Ala428Thr					CALCR_ENST00000360249.4_Missense_Mutation_p.A444T|CALCR_ENST00000426151.1_Missense_Mutation_p.A428T|CALCR_ENST00000421592.1_Missense_Mutation_p.A444T|CALCR_ENST00000394441.1_Missense_Mutation_p.A428T	p.A462T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		16	1683	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		444					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1384G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395071	0.25205	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.47869	0.83;0.84;0.84;0.95;0.95	5.11	-4.51	0.03483	.	.	.	.	.	T	0.25195	0.0612	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15484	0.013;0.001	T	0.19844	-1.0293	9	0.24483	T	0.36	.	2.2517	0.04045	0.1137:0.171:0.2612:0.4541	.	462;428	F5H605;A4D1G6	.;.	T	462;444;444;428;428	ENSP00000352561:A462T;ENSP00000353385:A444T;ENSP00000399552:A444T;ENSP00000377959:A428T;ENSP00000389295:A428T	ENSP00000352561:A462T	A	-	1	0	CALCR	92893747	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.303000	0.19210	-0.671000	0.05274	-0.909000	0.02823	GCT		0.592	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		46	88	0	0	0	1	0	46	88				
MKLN1	4289	broad.mit.edu	37	7	131073683	131073683	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:131073683A>T	ENST00000352689.6	+	4	392	c.352A>T	c.(352-354)Aag>Tag	p.K118*	MKLN1_ENST00000429546.1_Nonsense_Mutation_p.K26*|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.K26*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	118					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATTCACCTTGAAGCATAAAAT	0.299																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(352-354)Aag>Tag		muskelin 1, intracellular mediator containing kelch motifs							65.0	65.0	65.0					7																	131073683		2203	4296	6499	SO:0001587	stop_gained	4289				signal transduction	cytoplasm	protein binding	g.chr7:131073683A>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.352A>T	7.37:g.131073683A>T	ENSP00000323527:p.Lys118*					MKLN1_ENST00000421797.2_Nonsense_Mutation_p.K26*|MKLN1_ENST00000429546.1_Nonsense_Mutation_p.K26*	p.K118*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			4	392	+	Melanoma(18;0.162)		118					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	ENST00000352689.6	37	c.352A>T	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	A	33	5.234366	0.95207	.	.	ENSG00000128585	ENST00000421797;ENST00000416992;ENST00000429546;ENST00000446815;ENST00000352689	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6403	15.1993	0.73122	1.0:0.0:0.0:0.0	.	.	.	.	X	26;26;26;26;118	.	ENSP00000323527:K118X	K	+	1	0	MKLN1	130724223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.187000	0.69744	0.528000	0.53228	AAG		0.299	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		9	20	0	0	0	1	0	9	20				
SDCCAG8	10806	broad.mit.edu	37	1	243471455	243471476	+	Frame_Shift_Del	DEL	TGCAGACCATCGAAAGACTGGT	TGCAGACCATCGAAAGACTGGT	-	rs534097517|rs555358582|rs371251483|rs200447734|rs149359674|rs976529	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:243471455_243471476delTGCAGACCATCGAAAGACTGGT	ENST00000366541.3	+	8	1023_1044	c.905_926delTGCAGACCATCGAAAGACTGGT	c.(904-927)atgcagaccatcgaaagactggttfs	p.MQTIERLV302fs	SDCCAG8_ENST00000391846.1_Frame_Shift_Del_p.MQTIERLV302fs|SDCCAG8_ENST00000343783.6_Frame_Shift_Del_p.MQTIERLV157fs|SDCCAG8_ENST00000355875.4_Frame_Shift_Del_p.MQTIERLV259fs	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	302	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.R307R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AATGTTCATATGCAGACCATCGAAAGACTGGTTAAGTAAGTA	0.423																																						ENST00000366541.3																			1	Substitution - coding silent(1)	p.R307R(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(904-927)atfs		serologically defined colon cancer antigen 8																																				SO:0001589	frameshift_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243471455_243471476delTGCAGACCATCGAAAGACTGGT	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.905_926delTGCAGACCATCGAAAGACTGGT	1.37:g.243471455_243471476delTGCAGACCATCGAAAGACTGGT	ENSP00000355499:p.Met302fs					SDCCAG8_ENST00000355875.4_Frame_Shift_Del_p.MQTIERLV259fs|SDCCAG8_ENST00000343783.6_Frame_Shift_Del_p.MQTIERLV157fs|SDCCAG8_ENST00000391846.1_Frame_Shift_Del_p.MQTIERLV302fs	p.MQTIERLV302fs	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	8	1023_1044	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	302			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Frame_Shift_Del	DEL	ENST00000366541.3	37	c.905_926delTGCAGACCATCGAAAGACTGGT	CCDS31075.1																																																																																				0.423	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		22	197						22	197	---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73331984	73331986	+	In_Frame_Del	DEL	GCG	GCG	-	rs568022266	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr6:73331984_73331986delGCG	ENST00000370398.1	+	1	176_178	c.67_69delGCG	c.(67-69)gcgdel	p.A27del	KCNQ5_ENST00000342056.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000355635.3_In_Frame_Del_p.A27del|KCNQ5_ENST00000414165.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000370392.1_In_Frame_Del_p.A27del|KCNQ5_ENST00000403813.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000355194.4_In_Frame_Del_p.A27del|KCNQ5_ENST00000402622.2_In_Frame_Del_p.A27del	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	27					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAgcggcgcagcggcggcggcgg	0.783														6	0.00119808	0.0023	0.0	5008	,	,		8498	0.0		0.0	False		,,,				2504	0.0031				GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(67-69)del		potassium voltage-gated channel, KQT-like subfamily, member 5			,,,,	12,562		4,4,279					,,,,	0.5	1.0			2	19,1923		3,13,955	no	coding,coding,coding,coding,coding	KCNQ5	NM_019842.3,NM_001160134.1,NM_001160133.1,NM_001160132.1,NM_001160130.1	,,,,	7,17,1234	A1A1,A1R,RR		0.9784,2.0906,1.2321	,,,,	,,,,		31,2485				SO:0001651	inframe_deletion	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73331984_73331986delGCG	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.67_69delGCG	6.37:g.73331993_73331995delGCG	ENSP00000359425:p.Ala27del					KCNQ5_ENST00000414165.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000403813.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000402622.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000370392.1_In_Frame_Del_p.A27del|KCNQ5_ENST00000370398.1_In_Frame_Del_p.A27del|KCNQ5_ENST00000355635.3_In_Frame_Del_p.A27del|KCNQ5_ENST00000355194.4_In_Frame_Del_p.A27del	p.A27del	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	1	465_467	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	27					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	In_Frame_Del	DEL	ENST00000370398.1	37	c.67_69delGCG	CCDS4976.1																																																																																				0.783	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		2	4						2	4	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-	rs548021046	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del						p.RL10del	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		2	4						2	4	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)gagdel	p.E87del	PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	87					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606																																						ENST00000292478.4																			1	Substitution - Missense(1)	p.E87K(1)	lung(1)	endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(259-261)del		pentatricopeptide repeat domain 1																																				SO:0001651	inframe_deletion	26024							g.chr7:99032605_99032607delCTC	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.259_261delGAG	7.37:g.99032614_99032616delCTC	ENSP00000292478:p.Glu87del					PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del	p.E87del	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	509_511	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	In_Frame_Del	DEL	ENST00000292478.4	37	c.259_261delGAG	CCDS34691.1																																																																																				0.606	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		7	185						7	185	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64967938	64967938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:64967938delG	ENST00000399262.2	-	10	3709	c.3491delC	c.(3490-3492)ccafs	p.P1164fs	JMJD1C_ENST00000399251.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000542921.1_Frame_Shift_Del_p.P982fs|JMJD1C_ENST00000402544.1_Frame_Shift_Del_p.P945fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1164					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGATGTTCTGGTATCTTGCC	0.388																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3490-3492)cafs		jumonji domain containing 1C							198.0	188.0	191.0					10																	64967938		1938	4151	6089	SO:0001589	frameshift_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967938delG	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3491delC	10.37:g.64967938delG	ENSP00000382204:p.Pro1164fs					JMJD1C_ENST00000399251.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000402544.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000542921.1_Frame_Shift_Del_p.P982fs	p.P1164fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3709	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1164					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Frame_Shift_Del	DEL	ENST00000399262.2	37	c.3491delC	CCDS41532.1																																																																																				0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		92	183						92	183	---	---	---	---
MXI1	4601	broad.mit.edu	37	10	111986020	111986020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:111986020delT	ENST00000239007.7	+	1	270	c.52delT	c.(52-54)tttfs	p.F18fs	MXI1_ENST00000393134.1_Frame_Shift_Del_p.F18fs|MXI1_ENST00000361248.4_Intron|MXI1_ENST00000332674.5_Intron|MXI1_ENST00000369612.1_5'Flank	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	18					cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGCTGCCGAGTTTTTGGAGCG	0.677																																						ENST00000239007.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10						c.(52-54)ttfs		MAX interactor 1, dimerization protein			,,	0,3766		0,0,1883	26.0	20.0	22.0		,,	3.0	1.0	10		22	6,7294		1,4,3645	no	intron,frameshift,intron	MXI1	NM_130439.3,NM_005962.4,NM_001008541.1	,,	1,4,5528	A1A1,A1R,RR		0.0822,0.0,0.0542	,,	,,	111986020	6,11060	1991	3877	5868	SO:0001589	frameshift_variant	4601				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr10:111986020delT	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.52delT	10.37:g.111986020delT	ENSP00000239007:p.Phe18fs					MXI1_ENST00000332674.5_Intron|MXI1_ENST00000361248.4_Intron|MXI1_ENST00000393134.1_Frame_Shift_Del_p.F18fs	p.F18fs	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)	1	270	+		Breast(234;0.052)|Lung NSC(174;0.223)	18					B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Frame_Shift_Del	DEL	ENST00000239007.7	37	c.52delT	CCDS7564.2																																																																																				0.677	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439		2	4						2	4	---	---	---	---
LOC102723330	102723330	broad.mit.edu	37	11	17717451	17717452	+	RNA	INS	-	-	GGGCCG	rs201546786|rs77540938		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:17717451_17717452insGGGCCG	ENST00000529781.1	-	0	122				RP11-358H18.3_ENST00000524479.1_lincRNA																							gagaggggccagggccggggcc	0.797																																						ENST00000524479.1																			0																																																			0							g.chr11:17717451_17717452insGGGCCG																													11.37:g.17717452_17717457dupGGGCCG						RP11-358H18.2_ENST00000529781.1_RNA								0	314	+									RNA	INS	ENST00000529781.1	37																																																																																						0.797	RP11-358H18.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000389386.1			3	3						3	3	---	---	---	---
LOC101928940	101928940	broad.mit.edu	37	11	114239196	114239197	+	RNA	INS	-	-	C	rs71301679|rs145555504	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:114239196_114239197insC	ENST00000534904.2	-	0	304																											acatggtgagaccccccccgcc	0.579													CCCCCCCC|CCCCCCCC|CCCCCCCCC|insertion	1011	0.201877	0.0802	0.2867	5008	,	,		5103	0.2321		0.2237	False		,,,				2504	0.2526					ENST00000534904.2																			0																																																			0							g.chr11:114239196_114239197insC																													11.37:g.114239204_114239204dupC														0	304	-									RNA	INS	ENST00000534904.2	37																																																																																						0.579	RP11-64D24.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000398958.2			2	4						2	4	---	---	---	---
TRADD	8717	broad.mit.edu	37	16	67189037	67189039	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr16:67189037_67189039delGGC	ENST00000345057.4	-	4	1056_1058	c.588_590delGCC	c.(586-591)ccgcca>cca	p.196_197PP>P	TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000486556.1_In_Frame_Del_p.136_137PP>P	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	196	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.|Poly-Pro.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTGGGCAGGTGGCGGCGGCGGCG	0.724																																						ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(586-591)cca>cc		TNFRSF1A-associated via death domain				17,1653		5,7,823						-10.0	0.0			2	44,4012		13,18,1997	no	coding	TRADD	NM_003789.3		18,25,2820	A1A1,A1R,RR		1.0848,1.018,1.0653				61,5665				SO:0001651	inframe_deletion	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67189037_67189039delGGC	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.588_590delGCC	16.37:g.67189046_67189048delGGC	ENSP00000341268:p.Pro198del					TRADD_ENST00000486556.1_In_Frame_Del_p.PP136del	p.PP196del	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	4	1056_1058	-		Ovarian(137;0.0563)	196			Death.|Poly-Pro.		B2RDS3|B3KQZ9|Q52NZ1	In_Frame_Del	DEL	ENST00000345057.4	37	c.588_590delGCC	CCDS10829.1																																																																																				0.724	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			3	5						3	5	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7788146	7788148	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr17:7788146_7788148delGAG	ENST00000380358.4	+	1	23_25	c.22_24delGAG	c.(22-24)gagdel	p.E14del	LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	0					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTGAGggacgaggaggaggagg	0.7																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(22-24)del		chromodomain helicase DNA binding protein 3				165,3171		21,123,1524						0.8	1.0			6	282,6252		34,214,3019	no	coding	CHD3	NM_001005271.2		55,337,4543	A1A1,A1R,RR		4.3159,4.946,4.5289				447,9423				SO:0001651	inframe_deletion	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7788146_7788148delGAG	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.22_24delGAG	17.37:g.7788155_7788157delGAG	ENSP00000369716:p.Glu14del					LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron	p.E14del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			1	23_25	+		Prostate(122;0.202)	429					D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	ENST00000380358.4	37	c.22_24delGAG	CCDS32553.2																																																																																				0.700	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318052.1	NM_001005273		3	3						3	3	---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1827021	1827023	+	In_Frame_Del	DEL	GGA	GGA	-	rs367705891		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:1827021_1827023delGGA	ENST00000170168.4	-	2	1859_1861	c.1765_1767delTCC	c.(1765-1767)tccdel	p.S589del	CTB-31O20.4_ENST00000587741.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	589	Ser-rich.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTggaggtggaggaggaggag	0.7																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1765-1767)del		REX1, RNA exonuclease 1 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827021_1827023delGGA	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1765_1767delTCC	19.37:g.1827030_1827032delGGA	ENSP00000170168:p.Ser589del						p.S589del	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1859_1861	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	589			Ser-rich.		Q9ULT2	In_Frame_Del	DEL	ENST00000170168.4	37	c.1765_1767delTCC	CCDS32866.1																																																																																				0.700	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		3	5						3	5	---	---	---	---
SBSN	374897	broad.mit.edu	37	19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gagfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E46fs*27(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGCCCACCTCTCTCTCTGC	0.579																																						ENST00000452271.2																			1	Deletion - Frameshift(1)	p.E46fs*27(1)	large_intestine(1)	large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(136-138)gfs		suprabasin																																				SO:0001589	frameshift_variant	374897					extracellular region		g.chr19:36019046_36019047delCT	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.137_138delAG	19.37:g.36019054_36019055delCT	ENSP00000430242:p.Glu46fs					SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	165_166	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		46					A8K5J0|E9PBV3	Frame_Shift_Del	DEL	ENST00000452271.2	37	c.137_138delAG	CCDS54253.1																																																																																				0.579	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		7	294						7	294	---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(361-363)del		pituitary tumor-transforming 1 interacting protein																																				SO:0001651	inframe_deletion	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276194_46276196delGCA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del					PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	p.C121del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	581_583	-			121			Poly-Cys.		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	ENST00000330938.3	37	c.361_363delTGC	CCDS13715.1																																																																																				0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			9	125						9	125	---	---	---	---
