#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
MED14	9282	broad.mit.edu	37	X	40539348	40539348	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:40539348delT	ENST00000324817.1	-	21	2766	c.2648delA	c.(2647-2649)aacfs	p.N883fs	MED14_ENST00000496531.2_Intron	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	883					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGAGTTTGTTGATGGCATT	0.463																																						ENST00000324817.1	0.900000	0.540000	8.100000e-01	6.200000e-01	0.710000	0.723861	0.710000	0.720000																										0				39						c.(2647-2649)aacfs		mediator complex subunit 14							150.0	127.0	135.0					X																	40539348		2203	4300	6503	SO:0001589	frameshift_variant	9282	0	0					g.chrX:40539348delT	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2648delA	chrX.hg19:g.40539348delT	ENSP00000323720:p.Asn883fs						MED14_ENST00000496531.2_Intron	p.N883fs	NM_004229.3	NP_004220.2	0	1	1		O60244	MED14_HUMAN		21	2766	-			Q4KMR7|Q9UNB3	Frame_Shift_Del	DEL	ENST00000324817.1	1	1	hg19	c.2648delA	CCDS14254.1	0																																																																																								0.290000		TCGA-F2-A44G-01A-11D-A26I-08	0.463	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	0	0	1		2	2		0	0	0	0	198	0	198	197	1	1.940000	-20.000000	1	0.290000	NM_004229		0	55	57	0	474	470	0	0	1	0	0	0	0	198	0	0	1.000000	8.573461e-01	0	0	0	32	0	55	474
GPR26	2849	broad.mit.edu	37	10	125426350	125426350	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125426350G>A	ENST00000284674.1	+	1	480	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	143					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CGCCGCGCTCGCCCTGTCCTG	0.711																																						ENST00000284674.1	1.000000	0.650000	1	8.100000e-01	0.990000	0.932100	0.990000	1.000000																										0				20						c.(427-429)Gcc>Acc		G protein-coupled receptor 26							11.0	12.0	12.0					10																	125426350		2185	4271	6456	SO:0001583	missense	2849	0	0					g.chr10:125426350G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.427G>A	chr10.hg19:g.125426350G>A	ENSP00000284674:p.Ala143Thr	0						p.A143T	NM_153442.3	NP_703143.1	1	2	3	2.025644	Q8NDV2	GPR26_HUMAN		1	480	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	1	1	hg19	c.427G>A	CCDS7636.1	1	.	.	.	.	.	.	.	.	.	.	G	8.529	0.870536	0.17322	.	.	ENSG00000154478	ENST00000284674	T	0.71579	-0.58	4.02	-0.719	0.11201	4.02	-0.719	0.11201	GPCR, rhodopsin-like superfamily (1);	0.365001	0.27764	N	0.017959	T	0.40815	0.1132	N	0.22421	0.69	0.27577	N	0.949701	P	0.42161	0.772	B	0.31495	0.131	T	0.39781	-0.9597	10	0.23302	T	0.38	-8.2856	3.0124	0.06048	0.0986:0.1142:0.2647:0.5225	.	143	Q8NDV2	GPR26_HUMAN	T	143	ENSP00000284674:A143T	ENSP00000284674:A143T	A	+	1	0	0	GPR26	125416340	125416340	1.000000	0.71417	0.565000	0.28409	0.004000	0.04260	4.445000	0.60007	0.030000	0.15379	-0.878000	0.02970	GCC	0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.711	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1	1	0	1	2	2	2	2	0	0	0	0	29	29	29	28	1	1.940000	-20.000000	1	0.290000			0	20	20	0	117	117	1		1			0	0	29	0	0	0.999997	0	0	0	0	0	0	20	117
CPXM2	119587	broad.mit.edu	37	10	125506294	125506294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125506294G>A	ENST00000241305.3	-	14	2411	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	753					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCACGCTGTCGTCTCTTCTGC	0.577																																						ENST00000241305.3	1.000000	0.760000	1	8.500000e-01	0.950000	0.939681	0.950000	1.000000																										0				47						c.(2257-2259)Cga>Tga		carboxypeptidase X (M14 family), member 2							52.0	55.0	54.0					10																	125506294		2203	4300	6503	SO:0001587	stop_gained	119587	1	121412	32				g.chr10:125506294G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2257C>T	chr10.hg19:g.125506294G>A	ENSP00000241305:p.Arg753*	0					CPXM2_ENST00000368854.3_Intron	p.R753*	NM_198148.2	NP_937791.2	1	2	3	2.025644	Q8N436	CPXM2_HUMAN		14	2411	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	B4E3Q2	Nonsense_Mutation	SNP	ENST00000241305.3	0	1	hg19	c.2257C>T	CCDS7637.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.799577	0.98495	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	.	.	.	5.62	4.71	0.59529	5.62	4.71	0.59529	.	0.133527	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0889	13.5288	0.61611	0.0:0.0:0.7185:0.2815	.	.	.	.	X	753;586;728	.	ENSP00000241305:R753X	R	-	1	2	2	CPXM2	125496284	125496284	1.000000	0.71417	0.543000	0.28128	0.885000	0.51271	3.065000	0.49994	1.347000	0.45714	0.655000	0.94253	CGA	0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.577	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	1	0	1	2	2	2	2	0	0	0	0	129	129	129	127	1	1.940000	-20.000000	1	0.290000	NM_198148		0	75	75	0	465	459	1		1	0		0	0	129	0	0	1.000000	9.995734e-01	0	0	0	72	0	75	465
OR51B5	282763	broad.mit.edu	37	11	5364521	5364521	+	Silent	SNP	C	C	T	rs369884002		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:5364521C>T	ENST00000300773.2	-	1	288	c.234G>A	c.(232-234)acG>acA	p.T78T	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	78			T -> K (in dbSNP:rs57273781).		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAGCACCGTGGGCATTG	0.537																																						ENST00000300773.2	1.000000	0.690000	1	8.100000e-01	0.930000	0.915084	0.930000	1.000000																										0				28						c.(232-234)acG>acA		olfactory receptor, family 51, subfamily B, member 5		C		0,4402		0,0,2201	43.0	45.0	44.0		234	-9.5	0.0	11		44	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	OR51B5	NM_001005567.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		78/313	5364521	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	282763	3	121412	32				g.chr11:5364521C>T	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.234G>A	chr11.hg19:g.5364521C>T		0					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.T78T	NM_001005567.2	NP_001005567.2	1	2	3	2.025741	Q9H339	O51B5_HUMAN		1	288	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	B2RN59	Silent	SNP	ENST00000300773.2	1	1	hg19	c.234G>A	CCDS31378.1	1																																																																																								0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.537	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	1	0	1	2	2	2	2	0	0	0	0	101	101	101	98	1	1.940000	-3.222404	1	0.290000	NM_001005567		0	45	45	0	288	285	0		1			0	0	101	0	0	1.000000	0	0	0	0	0	0	45	288
RTN3	10313	broad.mit.edu	37	11	63520109	63520109	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:63520109T>A	ENST00000377819.5	+	5	3023	c.2869T>A	c.(2869-2871)Tcc>Acc	p.S957T	RTN3_ENST00000339997.4_Missense_Mutation_p.S938T|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Missense_Mutation_p.S161T|RTN3_ENST00000540798.1_Missense_Mutation_p.S845T|RTN3_ENST00000537981.1_Missense_Mutation_p.S161T|RTN3_ENST00000356000.3_Missense_Mutation_p.S180T	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	957	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCTGGTTGACTCCTTGAAGGT	0.413																																						ENST00000377819.5	1.000000	0.770000	1	8.400000e-01	0.910000	0.918485	0.910000	1.000000																										0				20						c.(2869-2871)Tcc>Acc		reticulon 3							176.0	168.0	171.0					11																	63520109		2201	4298	6499	SO:0001583	missense	10313	0	0					g.chr11:63520109T>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2869T>A	chr11.hg19:g.63520109T>A	ENSP00000367050:p.Ser957Thr	0					RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S845T|RTN3_ENST00000537981.1_Missense_Mutation_p.S161T|RTN3_ENST00000356000.3_Missense_Mutation_p.S180T|RTN3_ENST00000339997.4_Missense_Mutation_p.S938T|RTN3_ENST00000341307.2_Missense_Mutation_p.S161T	p.S957T	NM_001265589.1	NP_001252518.1	1	2	3	2.031189	O95197	RTN3_HUMAN		5	3023	+			B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	1	1	hg19	c.2869T>A	CCDS58141.1	1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019868	0.93462	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.997;0.997;0.998	D;D;D;D;D;D	0.85130	0.997;0.996;0.994;0.919;0.993;0.994	T	0.73467	-0.3973	10	0.87932	D	0	-10.1047	13.8015	0.63204	0.0:0.0:0.0:1.0	.	845;957;161;161;938;180	F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;RTN3_HUMAN;.;.;.;.	T	161;180;957;938;845;161	ENSP00000340903:S161T;ENSP00000348279:S180T;ENSP00000367050:S957T;ENSP00000344106:S938T;ENSP00000442733:S845T;ENSP00000440874:S161T	ENSP00000344106:S938T	S	+	1	0	0	RTN3	63276685	63276685	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.825000	0.86693	2.149000	0.67028	0.374000	0.22700	TCC	0.294094		TCGA-F2-A44G-01A-11D-A26I-08	0.413	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	1	0	1	2	2	2	2	0	0	0	0	340	340	340	338	1	1.940000	-20.000000	1	0.290000	NM_006054		0	119	119	0	778	768	1		1	1		0	0	340	0	0	1.000000	1	0	107	0	219	0	119	778
MMP3	4314	broad.mit.edu	37	11	102708080	102708080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:102708080C>A	ENST00000299855.5	-	9	1538	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	428					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GGAAAGTCTTCAGCTATTTGC	0.393																																						ENST00000299855.5	1.000000	0.520000	8.000000e-01	6.000000e-01	0.690000	0.708416	0.690000	0.690000																										0				22						c.(1282-1284)Gaa>Taa		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)						146.0	148.0	147.0					11																	102708080		2203	4299	6502	SO:0001587	stop_gained	4314	0	0					g.chr11:102708080C>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1282G>T	chr11.hg19:g.102708080C>A	ENSP00000299855:p.Glu428*	0					WTAPP1_ENST00000525739.2_RNA	p.E428*	NM_002422.3	NP_002413.1	1	2	3	2.031189	P08254	MMP3_HUMAN		9	1538	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	B2R8B8|Q3B7S0|Q6GRF8	Nonsense_Mutation	SNP	ENST00000299855.5	0	1	hg19	c.1282G>T	CCDS8323.1	0	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028856	0.35797	.	.	ENSG00000149968	ENST00000299855	.	.	.	5.17	4.18	0.49190	5.17	4.18	0.49190	.	1.143500	0.06851	N	0.797303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	14.2805	0.66208	0.0:0.9177:0.0:0.0823	.	.	.	.	X	428	.	ENSP00000299855:E428X	E	-	1	0	0	MMP3	102213290	102213290	0.000000	0.05858	0.892000	0.35008	0.436000	0.31835	-0.170000	0.09897	2.687000	0.91594	0.655000	0.94253	GAA	0.294094		TCGA-F2-A44G-01A-11D-A26I-08	0.393	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	1	0	1	2	2	2	2	0	0	0	0	124	124	124	122	1	1.940000	-16.647820	1	0.290000	NM_002422		0	51	51	0	460	458	0		1	0		0	0	124	0	0	1.000000	7.483068e-01	0	0	0	26	0	51	460
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.610000	1	7.900000e-01	0.990000	0.920561	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	0	0	0	2.005076	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.35G>A	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.285858		TCGA-F2-A44G-01A-11D-A26I-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	25	25	25	25	1	1.940000	-11.082890	1	0.290000	NM_033360		1323	17	17	6691	100	99	1	1	1	1	1	0	0	25	244	1	0.999976	9.093047e-01	1	14	29	13	183	17	100
KRT76	51350	broad.mit.edu	37	12	53170616	53170616	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:53170616C>A	ENST00000332411.2	-	1	513	c.460G>T	c.(460-462)Gga>Tga	p.G154*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	154	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCTGAATTCCCCCAGGAAAG	0.577																																						ENST00000332411.2	1.000000	0.650000	1	7.700000e-01	0.910000	0.896815	0.910000	1.000000																										0				27						c.(460-462)Gga>Tga		keratin 76							116.0	137.0	130.0					12																	53170616		2203	4300	6503	SO:0001587	stop_gained	51350	0	0					g.chr12:53170616C>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.460G>T	chr12.hg19:g.53170616C>A	ENSP00000330101:p.Gly154*	0						p.G154*	NM_015848.4	NP_056932.2	0	0	0	2.005076	Q01546	K22O_HUMAN		1	513	-			B4DRR3|Q7Z795	Nonsense_Mutation	SNP	ENST00000332411.2	0	1	hg19	c.460G>T	CCDS8838.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017156	0.93404	.	.	ENSG00000185069	ENST00000332411	.	.	.	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.000000	0.45606	D	0.000341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9243	0.70866	0.0:0.856:0.144:0.0	.	.	.	.	X	154	.	ENSP00000330101:G154X	G	-	1	0	0	KRT76	51456883	51456883	0.765000	0.28485	0.996000	0.52242	0.746000	0.42486	2.690000	0.47001	2.775000	0.95449	0.555000	0.69702	GGA	0.285858		TCGA-F2-A44G-01A-11D-A26I-08	0.577	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	1	0	1	2	2	2	2	0	0	0	0	38	38	38	38	1	1.940000	-16.906920	1	0.290000	NM_015848		0	36	35	0	234	229	1		1			0	0	38	0	0	1.000000	0	0	0	0	0	0	36	234
ZFYVE26	23503	broad.mit.edu	37	14	68274196	68274196	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:68274196G>A	ENST00000347230.4	-	5	943	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R269W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	269					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCAGGCCCCGGCTGGCCTTG	0.612																																						ENST00000347230.4	1.000000	0.780000	1	9.100000e-01	0.990000	0.970612	0.990000	1.000000																										0				94						c.(805-807)Cgg>Tgg		zinc finger, FYVE domain containing 26							34.0	37.0	36.0					14																	68274196		2203	4300	6503	SO:0001583	missense	23503	4	121412	33				g.chr14:68274196G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.805C>T	chr14.hg19:g.68274196G>A	ENSP00000251119:p.Arg269Trp	0					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R269W	p.R269W	NM_015346.3	NP_056161.2	1	2	3	2.035704	Q68DK2	ZFY26_HUMAN		5	943	-			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	1	1	hg19	c.805C>T	CCDS9788.1	1	.	.	.	.	.	.	.	.	.	.	G	9.505	1.104323	0.20632	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29142	1.72;1.58	5.57	1.59	0.23543	5.57	1.59	0.23543	.	0.928117	0.09227	N	0.831027	T	0.25938	0.0632	L	0.47716	1.5	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.04013	0.0;0.0;0.001	T	0.26744	-1.0094	10	0.37606	T	0.19	-3.9128	7.1516	0.25614	0.1304:0.0:0.6248:0.2448	.	269;269;269	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	W	269;248;269	ENSP00000251119:R269W;ENSP00000450603:R269W	ENSP00000251119:R269W	R	-	1	2	2	ZFYVE26	67343949	67343949	0.000000	0.05858	0.000000	0.03702	0.642000	0.38348	0.592000	0.23984	0.018000	0.15052	-0.424000	0.05967	CGG	0.295110		TCGA-F2-A44G-01A-11D-A26I-08	0.612	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	1	0	1	2	2	2	2	0	0	0	0	57	57	57	57	1	1.940000	-3.333297	1	0.290000	NM_015346		0	39	38	0	215	213	1		1	0		0	0	57	0	0	1.000000	2.473381e-02	0	0	0	2	0	39	215
AQR	9716	broad.mit.edu	37	15	35168180	35168180	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr15:35168180C>A	ENST00000156471.5	-	28	3418	c.3193G>T	c.(3193-3195)Gct>Tct	p.A1065S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1065					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGAATCTGAGCAGCCTCTTCC	0.343																																						ENST00000156471.5	1.000000	0.620000	9.600000e-01	7.200000e-01	0.820000	0.835510	0.820000	1.000000																										0				57						c.(3193-3195)Gct>Tct		aquarius intron-binding spliceosomal factor							94.0	90.0	91.0					15																	35168180		1825	4078	5903	SO:0001583	missense	9716	0	0					g.chr15:35168180C>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3193G>T	chr15.hg19:g.35168180C>A	ENSP00000156471:p.Ala1065Ser	0						p.A1065S	NM_014691.2	NP_055506.1	1	2	3	2.040059	O60306	AQR_HUMAN		28	3418	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	1	1	hg19	c.3193G>T	CCDS42013.1	0	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507263	0.85282	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	T	0.80123	-1.34	5.03	4.1	0.47936	5.03	4.1	0.47936	.	0.047169	0.85682	N	0.000000	D	0.87865	0.6285	M	0.66439	2.03	0.58432	D	0.999994	D	0.76494	0.999	D	0.77004	0.989	D	0.88104	0.2821	10	0.52906	T	0.07	-15.6622	14.693	0.69101	0.1464:0.8536:0.0:0.0	.	1065	O60306	AQR_HUMAN	S	1065	ENSP00000156471:A1065S	ENSP00000156471:A1065S	A	-	1	0	0	AQR	32955472	32955472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	1.075000	0.40932	0.650000	0.86243	GCT	0.295110		TCGA-F2-A44G-01A-11D-A26I-08	0.343	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	1	0	1	2	2	2	2	0	0	0	0	130	130	130	128	1	1.940000	-18.773530	1	0.290000	NM_014691		0	50	50	0	371	369	1		1	1		0	0	130	0	0	1.000000	5.513012e-01	0	4	0	11	0	50	371
CCNF	899	broad.mit.edu	37	16	2495532	2495532	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:2495532G>T	ENST00000397066.4	+	10	1091	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	335	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GCACCTGACCGTGGAGTGTGT	0.607																																						ENST00000397066.4	1.000000	0.690000	1	7.900000e-01	0.910000	0.904081	0.910000	1.000000																										0				20						c.(1003-1005)Gtg>Ttg		cyclin F							106.0	74.0	85.0					16																	2495532		2198	4300	6498	SO:0001583	missense	899	0	0					g.chr16:2495532G>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1003G>T	chr16.hg19:g.2495532G>T	ENSP00000380256:p.Val335Leu	0						p.V335L	NM_001761.2	NP_001752.2	1	2	3	2.041925	P41002	CCNF_HUMAN		10	1091	+		Ovarian(90;0.17)	B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	1	1	hg19	c.1003G>T	CCDS10467.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638473	0.87760	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.15718	2.4	5.5	5.5	0.81552	5.5	5.5	0.81552	Cyclin, N-terminal (2);Cyclin-like (3);	0.056215	0.64402	D	0.000001	T	0.48295	0.1492	M	0.87827	2.91	0.58432	D	0.999998	D	0.71674	0.998	D	0.67548	0.952	T	0.55490	-0.8133	10	0.87932	D	0	-26.3978	17.9615	0.89086	0.0:0.0:1.0:0.0	.	335	P41002	CCNF_HUMAN	L	335;250	ENSP00000380256:V335L	ENSP00000293968:V250L	V	+	1	0	0	CCNF	2435533	2435533	1.000000	0.71417	0.961000	0.40146	0.953000	0.61014	7.645000	0.83430	2.586000	0.87340	0.557000	0.71058	GTG	0.296124		TCGA-F2-A44G-01A-11D-A26I-08	0.607	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	1	0	1	2	2	2	2	0	0	0	0	130	130	130	127	1	1.940000	-3.142791	1	0.290000	NM_001761		0	51	51	0	339	330	1		1	1		0	0	130	0	0	1.000000	3.383518e-01	0	3	0	6	0	51	339
GRIN2A	2903	broad.mit.edu	37	16	9934952	9934952	+	Silent	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:9934952G>T	ENST00000396573.2	-	7	1647	c.1338C>A	c.(1336-1338)acC>acA	p.T446T	GRIN2A_ENST00000396575.2_Silent_p.T446T|GRIN2A_ENST00000562109.1_Silent_p.T446T|GRIN2A_ENST00000535259.1_Silent_p.T289T|GRIN2A_ENST00000330684.3_Silent_p.T446T|GRIN2A_ENST00000404927.2_Silent_p.T446T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	446					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCCCTCATTGGTTGAATTGC	0.403																																						ENST00000396573.2	1.000000	0.720000	1	8.200000e-01	0.930000	0.918260	0.930000	1.000000																										0				198						c.(1336-1338)acC>acA		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)						68.0	62.0	64.0					16																	9934952		2197	4300	6497	SO:0001819	synonymous_variant	2903	0	0					g.chr16:9934952G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1338C>A	chr16.hg19:g.9934952G>T		0					GRIN2A_ENST00000396575.2_Silent_p.T446T|GRIN2A_ENST00000330684.3_Silent_p.T446T|GRIN2A_ENST00000404927.2_Silent_p.T446T|GRIN2A_ENST00000562109.1_Silent_p.T446T|GRIN2A_ENST00000535259.1_Silent_p.T289T	p.T446T	NM_000833.3	NP_000824.1	1	2	3	2.041925	Q12879	NMDE1_HUMAN		7	1647	-			O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	1	1	hg19	c.1338C>A	CCDS10539.1	1																																																																																								0.296124		TCGA-F2-A44G-01A-11D-A26I-08	0.403	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	0	0	1	2	2	2	2	0	0	0	0	111	111	111	111	1	1.940000	-3.221939	1	0.290000			0	60	60	0	390	386	1		1			0	0	111	0	0	1.000000	0	0	0	0	0	0	60	390
MYH2	4620	broad.mit.edu	37	17	10432367	10432367	+	Silent	SNP	G	G	A	rs139130605		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:10432367G>A	ENST00000245503.5	-	27	3768	c.3384C>T	c.(3382-3384)atC>atT	p.I1128I	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1128I|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1128					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCTGCCTCGATTTCCTCCT	0.582																																						ENST00000245503.5	1.000000	0.670000	9.500000e-01	7.600000e-01	0.860000	0.861971	0.860000	1.000000																										0				176						c.(3382-3384)atC>atT		myosin, heavy chain 2, skeletal muscle, adult		G	,	2,4396		0,2,2197	34.0	39.0	37.0		3384,3384	-2.5	1.0	17	dbSNP_134	37	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,3,6492	AA,AG,GG		0.0116,0.0455,0.0231	,	1128/1942,1128/1942	10432367	3,12987	2199	4296	6495	SO:0001819	synonymous_variant	4620	12	121396	40				g.chr17:10432367G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3384C>T	chr17.hg19:g.10432367G>A		1					RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1128I|CTC-297N7.11_ENST00000587182.2_RNA	p.I1128I	NM_017534.5	NP_060004.3	0	1	1	1.761433	Q9UKX2	MYH2_HUMAN		27	3768	-			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	1	1	hg19	c.3384C>T	CCDS11156.1	1																																																																																								0.172398		TCGA-F2-A44G-01A-11D-A26I-08	0.582	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	1	0	1	2	2	2	2	0	0	0	0	100	100	100	122	1	1.940000	-20.000000	1	0.290000	NM_017534		0	58	47	0	330	276	1		1			0	0	100	0	0	1.000000	0	0	0	0	0	0	58	330
DNAH9	1770	broad.mit.edu	37	17	11837209	11837209	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:11837209G>A	ENST00000262442.4	+	65	12378	c.12310G>A	c.(12310-12312)Gat>Aat	p.D4104N	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.D4028N|DNAH9_ENST00000608377.1_Missense_Mutation_p.D416N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4104					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCCTATGATGATTTGCGCTA	0.532																																						ENST00000262442.4	1.000000	0.650000	9.400000e-01	7.400000e-01	0.840000	0.846720	0.840000	1.000000																										0				290						c.(12310-12312)Gat>Aat		dynein, axonemal, heavy chain 9							81.0	78.0	79.0					17																	11837209		2203	4300	6503	SO:0001583	missense	1770	0	0					g.chr17:11837209G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12310G>A	chr17.hg19:g.11837209G>A	ENSP00000262442:p.Asp4104Asn	1					DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.D416N|DNAH9_ENST00000454412.2_Missense_Mutation_p.D4028N	p.D4104N	NM_001372.3	NP_001363.2	0	1	1	1.761433	Q9NYC9	DYH9_HUMAN		65	12378	+		Breast(5;0.0122)|all_epithelial(5;0.131)	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	1	1	hg19	c.12310G>A	CCDS11160.1	0	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813398	0.90790	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.10192	2.9;2.9;2.9	5.0	5.0	0.66597	5.0	5.0	0.66597	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	M	0.88031	2.925	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	T	0.45556	-0.9253	10	0.66056	D	0.02	.	18.8498	0.92224	0.0:0.0:1.0:0.0	.	4104	Q9NYC9	DYH9_HUMAN	N	4104;4028;2610;416	ENSP00000262442:D4104N;ENSP00000414874:D4028N;ENSP00000379323:D416N	ENSP00000262442:D4104N	D	+	1	0	0	DNAH9	11777934	11777934	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	9.601000	0.98297	2.761000	0.94854	0.650000	0.86243	GAT	0.172398		TCGA-F2-A44G-01A-11D-A26I-08	0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	2	2	2	2	0	0	0	0	113	113	113	112	1	1.940000	-19.999930	1	0.290000	NM_001372		0	51	50	0	297	294	1		1			0	0	113	0	0	1.000000	0	0	0	0	0	0	51	297
EEF2	1938	broad.mit.edu	37	19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:3980040G>T	ENST00000309311.6	-	10	1459	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6	1.000000	0.530000	9.900000e-01	6.500000e-01	0.800000	0.807482	0.800000	1.000000																										0				21						c.(1369-1371)taC>taA		eukaryotic translation elongation factor 2							43.0	39.0	40.0					19																	3980040		2203	4300	6503	SO:0001587	stop_gained	1938	0	0					g.chr19:3980040G>T	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1371C>A	chr19.hg19:g.3980040G>T	ENSP00000307940:p.Tyr457*	0					SNORD37_ENST00000384048.1_RNA	p.Y457*	NM_001961.3	NP_001952.1	1	2	3	2.052462	P13639	EF2_HUMAN		10	1459	-		Hepatocellular(1079;0.137)	B2RMP5|D6W618|Q58J86	Nonsense_Mutation	SNP	ENST00000309311.6	0	1	hg19	c.1371C>A	CCDS12117.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.671855	0.96754	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.45	-4.98	0.03019	5.45	-4.98	0.03019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.4193	14.8867	0.70575	0.5244:0.0:0.4756:0.0	.	.	.	.	X	457	.	ENSP00000307940:Y457X	Y	-	3	2	2	EEF2	3931040	3931040	0.000000	0.05858	0.873000	0.34254	0.950000	0.60333	-2.827000	0.00746	-0.965000	0.03591	-1.134000	0.01955	TAC	0.297134		TCGA-F2-A44G-01A-11D-A26I-08	0.627	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	1	0	1	2	2	2	2	0	0	0	0	50	50	50	50	1	1.940000	-20.000000	1	0.290000	NM_001961		0	24	24	0	188	187	1		1	1	1	0	0	50	470	0	1.000000	1	1	42	69	1753	370	24	188
JAK3	3718	broad.mit.edu	37	19	17943473	17943473	+	Silent	SNP	G	G	A	rs200746503		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:17943473G>A	ENST00000527670.1	-	18	2564	c.2535C>T	c.(2533-2535)ggC>ggT	p.G845G	JAK3_ENST00000534444.1_Silent_p.G845G|JAK3_ENST00000458235.1_Silent_p.G845G			P52333	JAK3_HUMAN	Janus kinase 3	845	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.			GD -> AH (in Ref. 1; AAA19626). {ECO:0000305}.	B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CTGTATTGTCGCCTAGCGGGT	0.617		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000527670.1	1.000000	0.770000	1	8.600000e-01	0.950000	0.938149	0.950000	1.000000		2		Dom	yes			Dom	yes		19	19p13.1	19p13.1	3718	Mis	Janus kinase 3				L	L			acute megakaryocytic leukemia, ETP ALL		0				147						c.(2533-2535)ggC>ggT		Janus kinase 3	Tofacitinib(DB08895)						83.0	75.0	78.0					19																	17943473		2203	4300	6503	SO:0001819	synonymous_variant	3718	3	121412	38				g.chr19:17943473G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2535C>T	chr19.hg19:g.17943473G>A		0					JAK3_ENST00000458235.1_Silent_p.G845G|JAK3_ENST00000534444.1_Silent_p.G845G	p.G845G			1	2	3	2.044205	P52333	JAK3_HUMAN		18	2564	-			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	1	1	hg19	c.2535C>T	CCDS12366.1	1																																																																																								0.296124		TCGA-F2-A44G-01A-11D-A26I-08	0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1	2	2	2	2	0	0	0	0	145	145	145	144	1	1.940000	-3.318797	1	0.290000	NM_000215		0	94	93	0	595	585	1		1	1		0	0	145	0	0	1.000000	3.565613e-01	0	2	0	7	0	94	595
DHDH	27294	broad.mit.edu	37	19	49447742	49447742	+	Silent	SNP	C	C	T	rs377571592		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:49447742C>T	ENST00000221403.2	+	6	913	c.873C>T	c.(871-873)caC>caT	p.H291H	DHDH_ENST00000523250.1_Silent_p.H152H|DHDH_ENST00000522614.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	291					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGCCAAGCACGTCTGGGAGT	0.617																																						ENST00000221403.2	1.000000	0.770000	1	8.600000e-01	0.970000	0.947341	0.970000	1.000000																										0				9						c.(871-873)caC>caT		dihydrodiol dehydrogenase (dimeric)		C		0,4406		0,0,2203	71.0	68.0	69.0		873	-5.1	0.7	19		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DHDH	NM_014475.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		291/335	49447742	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27294	2	120884	35				g.chr19:49447742C>T	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.873C>T	chr19.hg19:g.49447742C>T		0					DHDH_ENST00000523250.1_Silent_p.H152H|DHDH_ENST00000522614.1_Intron	p.H291H	NM_014475.3	NP_055290.1	1	2	3	2.050566	Q9UQ10	DHDH_HUMAN		6	913	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		Silent	SNP	ENST00000221403.2	1	1	hg19	c.873C>T	CCDS12741.1	1																																																																																								0.297134		TCGA-F2-A44G-01A-11D-A26I-08	0.617	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	1	0	1	2	2	2	2	0	0	0	0	169	169	169	168	1	1.940000	-20.000000	1	0.290000	NM_014475		0	70	69	0	432	428	0		1	0		0	0	169	0	0	1.000000	2.576603e-01	0	1	0	6	0	70	432
ZNF667	63934	broad.mit.edu	37	19	56953504	56953504	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:56953504C>T	ENST00000504904.3	-	7	1579	c.860G>A	c.(859-861)gGg>gAg	p.G287E	ZNF667_ENST00000292069.6_Missense_Mutation_p.G287E|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.G415E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	287					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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GAAGCCTCTCCCACATTTATT	0.363																																						ENST00000504904.3	1.000000	0.590000	9.000000e-01	6.700000e-01	0.770000	0.788680	0.770000	0.760000																										0				38						c.(859-861)gGg>gAg		zinc finger protein 667							70.0	75.0	73.0					19																	56953504		2202	4297	6499	SO:0001583	missense	63934	0	0					g.chr19:56953504C>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.860G>A	chr19.hg19:g.56953504C>T	ENSP00000439402:p.Gly287Glu	0					ZNF667_ENST00000292069.6_Missense_Mutation_p.G287E|ZNF667_ENST00000342634.3_Missense_Mutation_p.G415E|ZNF667_ENST00000591790.1_3'UTR	p.G287E			1	2	3	2.070933	Q5HYK9	ZN667_HUMAN		7	1579	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	1	1	hg19	c.860G>A	CCDS12944.1	0	.	.	.	.	.	.	.	.	.	.	C	6.063	0.380022	0.11466	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.35421	1.31;1.31;1.31	5.05	2.86	0.33363	5.05	2.86	0.33363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.500329	0.16953	N	0.192810	T	0.24851	0.0603	L	0.41356	1.27	0.25144	N	0.990479	P;P	0.39748	0.686;0.551	B;B	0.33960	0.173;0.085	T	0.11421	-1.0588	10	0.56958	D	0.05	-0.6017	7.2307	0.26040	0.0:0.7256:0.0:0.2744	.	415;287	E7EPS0;Q5HYK9	.;ZN667_HUMAN	E	415;287;287;69	ENSP00000344699:G415E;ENSP00000439402:G287E;ENSP00000292069:G287E	ENSP00000292069:G287E	G	-	2	0	0	ZNF667	61645316	61645316	0.021000	0.18746	0.015000	0.15790	0.010000	0.07245	2.416000	0.44644	0.676000	0.31285	0.591000	0.81541	GGG	0.301147		TCGA-F2-A44G-01A-11D-A26I-08	0.363	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	1	0	1	2	2	2	2	0	0	0	0	134	134	134	133	1	1.940000	-3.075755	1	0.290000	NM_022103		0	61	61	0	500	497	1		1	0		0	0	134	0	0	1.000000	3.400070e-02	0	0	0	3	0	61	500
ZNF835	90485	broad.mit.edu	37	19	57175237	57175237	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:57175237G>A	ENST00000537055.2	-	2	1561	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GTGTAGGGCCGCTCGCCCGTG	0.672																																						ENST00000537055.2	1.000000	0.820000	1	9.200000e-01	0.990000	0.974628	0.990000	1.000000																										0				47						c.(1330-1332)Cgg>Tgg		zinc finger protein 835							45.0	51.0	49.0					19																	57175237		2201	4297	6498	SO:0001583	missense	90485	0	0					g.chr19:57175237G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1330C>T	chr19.hg19:g.57175237G>A	ENSP00000444747:p.Arg444Trp	0						p.R444W	NM_001005850.2	NP_001005850.2	1	2	3	2.070933	Q9Y2P0	ZN835_HUMAN		2	1561	-			B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	1	1	hg19	c.1330C>T	CCDS56105.1	1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845368	0.51164	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.20332	2.08	2.15	-1.97	0.07503	2.15	-1.97	0.07503	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44222	0.1283	M	0.83483	2.645	0.25382	N	0.988608	D	0.89917	1.0	D	0.73708	0.981	T	0.34576	-0.9823	9	0.87932	D	0	.	9.9557	0.41666	0.0:0.0:0.2207:0.7793	.	466	Q9Y2P0	ZN835_HUMAN	W	466;444	ENSP00000444747:R444W	ENSP00000341756:R466W	R	-	1	2	2	ZNF835	61867049	61867049	0.000000	0.05858	0.574000	0.28523	0.685000	0.39939	-0.428000	0.06991	-0.414000	0.07495	0.561000	0.74099	CGG	0.301147		TCGA-F2-A44G-01A-11D-A26I-08	0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	1	2	2	2	2	0	0	0	0	120	120	120	119	1	1.940000	-3.222339	1	0.290000	NM_001005850		0	76	75	0	441	435	1		1			0	0	120	0	0	1.000000	0	0	0	0	0	0	76	441
IGSF3	3321	broad.mit.edu	37	1	117122285	117122285	+	Missense_Mutation	SNP	G	G	C	rs576658823|rs114915440	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:117122285G>C	ENST00000369486.3	-	10	3828	c.3063C>G	c.(3061-3063)gaC>gaG	p.D1021E	IGSF3_ENST00000318837.6_Missense_Mutation_p.D1041E|IGSF3_ENST00000369483.1_Missense_Mutation_p.D1041E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1021	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D1041D(1)|p.D1021D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcgtcgtcctcct	0.632																																						ENST00000369486.3	0.690000	0.140000	4.900000e-01	2.200000e-01	0.330000	0.363629	0.330000	0.310000																										2	Substitution - coding silent(2)	p.D1041D(1)|p.D1021D(1)	prostate(2)	62						c.(3061-3063)gaC>gaG		immunoglobulin superfamily, member 3							28.0	28.0	28.0					1																	117122285		2203	4300	6503	SO:0001583	missense	3321	0	0					g.chr1:117122285G>C	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3063C>G	chr1.hg19:g.117122285G>C	ENSP00000358498:p.Asp1021Glu	0					IGSF3_ENST00000318837.6_Missense_Mutation_p.D1041E|IGSF3_ENST00000369483.1_Missense_Mutation_p.D1041E	p.D1021E	NM_001007237.1	NP_001007238.1	1	2	3	2.021822	O75054	IGSF3_HUMAN		10	3828	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	1	0	hg19	c.3063C>G	CCDS30813.1	0	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.470330	0.00011	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02890	4.12;4.12;4.12	0.329	0.329	0.15924	0.329	0.329	0.15924	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.329841	0.23883	N	0.043632	T	0.00468	0.0015	N	0.22421	0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46925	-0.9156	8	0.02654	T	1	-2.9576	.	.	.	.	1021;1041	O75054;A6NJZ6	IGSF3_HUMAN;.	E	1021;1041;1041	ENSP00000358498:D1021E;ENSP00000358495:D1041E;ENSP00000321184:D1041E	ENSP00000321184:D1041E	D	-	3	2	2	IGSF3	116923808	116923808	0.026000	0.19158	0.036000	0.18154	0.121000	0.20230	-1.340000	0.02650	-0.471000	0.06891	-0.473000	0.04963	GAC	0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.632	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	1	0	0	2	32	2	2	0	0	0	5	33	33	33	38	1	1.940000	-1.271879	0	0.290000	NM_001542		0	6	20	0	125	150	0		0	1		0	0	33	0	0	0.000110	2.462300e-01	0	2	0	16	0	6	125
SETDB1	9869	broad.mit.edu	37	1	150921869	150921869	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:150921869C>G	ENST00000271640.5	+	12	1638	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.S483*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	483					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGCCCAGTCACGGAAGCAG	0.453																																						ENST00000271640.5	1.000000	0.730000	1	8.200000e-01	0.920000	0.914964	0.920000	1.000000																										0				12						c.(1447-1449)tCa>tGa		SET domain, bifurcated 1							107.0	113.0	111.0					1																	150921869		2203	4300	6503	SO:0001587	stop_gained	9869	0	0					g.chr1:150921869C>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1448C>G	chr1.hg19:g.150921869C>G	ENSP00000271640:p.Ser483*	0					SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.S483*	p.S483*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	0	1	1	2.017220	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)	12	1638	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Nonsense_Mutation	SNP	ENST00000271640.5	0	1	hg19	c.1448C>G	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.224540	0.95139	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	.	.	.	4.86	3.9	0.45041	4.86	3.9	0.45041	.	0.403570	0.27604	N	0.018633	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.7618	0.51908	0.136:0.7327:0.1313:0.0	.	.	.	.	X	483;484;483;483	.	ENSP00000271640:S483X	S	+	2	0	0	SETDB1	149188493	149188493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.799000	0.38824	2.528000	0.85240	0.561000	0.74099	TCA	0.288969		TCGA-F2-A44G-01A-11D-A26I-08	0.453	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2	0	0	1	2	2	2	2	0	0	0	0	157	157	157	156	1	1.940000	-20.000000	1	0.290000			0	74	73	0	477	474	0		1	1		0	0	157	0	0	1.000000	2.433135e-01	0	3	0	4	0	74	477
CSMD2	114784	broad.mit.edu	37	1	34158555	34158555	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:34158555C>T	ENST00000373380.1	-	4	866	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	CSMD2_ENST00000373381.4_Missense_Mutation_p.E1343K|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1303	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTCTGCTTCGATGGTCCAG	0.562																																						ENST00000373380.1	1.000000	0.900000	1	9.800000e-01	0.990000	0.991676	0.990000	1.000000																										0				246						c.(646-648)Gaa>Aaa		CUB and Sushi multiple domains 2							162.0	152.0	155.0					1																	34158555		2203	4300	6503	SO:0001583	missense	114784	1	121412	33				g.chr1:34158555C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.646G>A	chr1.hg19:g.34158555C>T	ENSP00000362478:p.Glu216Lys	0					CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.E1343K	p.E216K			1	2	3	2.029795	Q7Z408	CSMD2_HUMAN		4	866	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	1	1	hg19	c.646G>A		1	.	.	.	.	.	.	.	.	.	.	C	36	5.880781	0.97062	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.17854	2.25;2.25	5.52	5.52	0.82312	5.52	5.52	0.82312	CUB (5);	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.45744	1.44	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.993	P;D;D	0.67900	0.87;0.954;0.921	T	0.02075	-1.1218	10	0.56958	D	0.05	.	18.4386	0.90656	0.0:1.0:0.0:0.0	.	216;1303;1343	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	K	1343;216	ENSP00000362479:E1343K;ENSP00000362478:E216K	ENSP00000241312:E1303K	E	-	1	0	0	CSMD2	33931142	33931142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.747000	0.85070	2.597000	0.87782	0.655000	0.94253	GAA	0.294094		TCGA-F2-A44G-01A-11D-A26I-08	0.562	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	1	0	1	2	2	2	2	0	0	0	0	257	257	257	254	1	1.940000	-3.318872	1	0.290000	NM_052896		0	142	142	0	780	774	1		1			0	0	257	0	0	1.000000	0	0	0	0	0	0	142	780
DPYD	1806	broad.mit.edu	37	1	98157326	98157326	+	Missense_Mutation	SNP	G	G	A	rs267598789		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:98157326G>A	ENST00000370192.3	-	7	809	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	237					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACATCATACGGCAGCCGGAAC	0.363																																						ENST00000370192.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998848	0.990000	1.000000																										0				83						c.(709-711)Ccg>Tcg		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)						87.0	88.0	88.0					1																	98157326		2203	4300	6503	SO:0001583	missense	1806	0	0					g.chr1:98157326G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.709C>T	chr1.hg19:g.98157326G>A	ENSP00000359211:p.Pro237Ser	0					DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	p.P237S	NM_000110.3	NP_000101	1	2	3	2.029795	Q12882	DPYD_HUMAN		7	809	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	1	1	hg19	c.709C>T	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834760	0.91036	.	.	ENSG00000188641	ENST00000370192	D	0.94966	-3.57	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.95872	0.8656	L	0.48986	1.54	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.96387	0.9286	10	0.87932	D	0	-9.0732	18.7184	0.91685	0.0:0.0:1.0:0.0	.	237	Q12882	DPYD_HUMAN	S	237	ENSP00000359211:P237S	ENSP00000359211:P237S	P	-	1	0	0	DPYD	97929914	97929914	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.564000	0.82326	2.497000	0.84241	0.460000	0.39030	CCG	0.294094		TCGA-F2-A44G-01A-11D-A26I-08	0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	1	0	1	2	2	2	2	0	0	0	0	118	118	118	118	1	1.940000	-20.000000	1	0.290000	NM_000110		0	63	62	0	283	278	1		1	1		0	0	118	0	0	1.000000	8.990439e-01	0	7	0	13	0	63	283
LMX1A	4009	broad.mit.edu	37	1	165177322	165177322	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:165177322C>T	ENST00000342310.3	-	7	1177	c.795G>A	c.(793-795)caG>caA	p.Q265Q	RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Silent_p.Q265Q|LMX1A_ENST00000294816.2_Silent_p.Q265Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	265	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCTGGGTGTTCTGCTGATCTT	0.572																																						ENST00000342310.3	1.000000	0.650000	1	7.900000e-01	0.950000	0.914132	0.950000	1.000000																										0				35						c.(793-795)caG>caA		LIM homeobox transcription factor 1, alpha							85.0	60.0	68.0					1																	165177322		2203	4300	6503	SO:0001819	synonymous_variant	4009	0	0					g.chr1:165177322C>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.795G>A	chr1.hg19:g.165177322C>T		0					LMX1A_ENST00000367893.4_Silent_p.Q265Q|LMX1A_ENST00000294816.2_Silent_p.Q265Q|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'UTR	p.Q265Q	NM_177398.3	NP_796372.1	0	1	1	2.017220	Q8TE12	LMX1A_HUMAN		7	1177	-	all_hematologic(923;0.248)		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	1	1	hg19	c.795G>A	CCDS1247.1	1																																																																																								0.288969		TCGA-F2-A44G-01A-11D-A26I-08	0.572	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	1	0	0	2	2	2	2	0	0	0	0	53	53	53	52	1	1.940000	-20.000000	1	0.290000	NM_177398		0	27	28	0	168	168	0		1			0	0	53	0	0	1.000000	0	0	0	0	0	0	27	168
GNAS	2778	broad.mit.edu	37	20	57429663	57429663	+	Missense_Mutation	SNP	A	A	C			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr20:57429663A>C	ENST00000371100.4	+	1	1895	c.1343A>C	c.(1342-1344)gAc>gCc	p.D448A	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.D448A|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.D448A|GNAS_ENST00000306120.3_Missense_Mutation_p.T385P|GNAS_ENST00000371098.2_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGGCCCCTGACGCCCCAGCC	0.771			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4	1.000000	0.660000	1	9.900000e-01	0.990000	0.971064	0.990000	1.000000				Dom	yes			Dom	yes		20	20q13.2	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	yes	McCune-Albright syndrome; pseudohypoparathyroidism, type IA	E	E			pituitary adenoma		0				441						c.(1342-1344)gAc>gCc		GNAS complex locus							2.0	2.0	2.0					20																	57429663		804	2066	2870	SO:0001583	missense	2778	1	93804	26				g.chr20:57429663A>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1343A>C	chr20.hg19:g.57429663A>C	ENSP00000360141:p.Asp448Ala	0	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D448A|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.T385P|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.D448A|GNAS_ENST00000464624.2_3'UTR	p.D448A	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	1	2	3	2.028414	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)	1	1895	+	all_lung(29;0.0104)		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	0	1	hg19	c.1343A>C	CCDS46622.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.48|10.48	1.360743|1.360743	0.24598|0.24598	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.88277|.	-2.28;-2.36|.	4.94|4.94	-7.29|-7.29	0.01451|0.01451	4.94|4.94	-7.29|-7.29	0.01451|0.01451	.|.	2585.400000|.	0.00738|.	N|.	0.000990|.	T|T	0.16428|0.16428	0.0395|0.0395	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.39820|0.39820	-0.9595|-0.9595	10|6	0.08381|0.45353	T|T	0.77|0.12	.|.	10.372|10.372	0.44060|0.44060	0.5274:0.2745:0.1982:0.0|0.5274:0.2745:0.1982:0.0	.|.	448|.	Q5JWF2|.	GNAS1_HUMAN|.	A|P	448|385	ENSP00000360141:D448A;ENSP00000360143:D448A|.	ENSP00000360140:D448A|ENSP00000302237:T385P	D|T	+|+	2|1	0|0	0|0	GNAS|GNAS	56863058|56863058	56863058|56863058	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.053000|0.053000	0.15095|0.15095	-0.231000|-0.231000	0.09069|0.09069	-1.486000|-1.486000	0.01851|0.01851	-0.464000|-0.464000	0.05259|0.05259	GAC|ACG	0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.771	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	0	0	0	2	2	2	6	0	0	0	0	10	10	10	4	1	1.940000	-14.381970	1	0.290000	NM_000516		0	6	0	0	21	11	0		0		0	0	1	10	6	0	0.737783	0	1.390002e-01	0	2	0	12	6	21
APOBEC3B	9582	broad.mit.edu	37	22	39382043	39382043	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr22:39382043C>T	ENST00000333467.3	+	3	446	c.401C>T	c.(400-402)gCg>gTg	p.A134V	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.A134V|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.A134V	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	134					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TACCGAAGGGCGCTCTGCAGG	0.607																																						ENST00000333467.3	0.990000	0.610000	9.000000e-01	6.900000e-01	0.790000	0.802504	0.790000	0.800000																										0				13						c.(400-402)gCg>gTg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							49.0	53.0	52.0					22																	39382043		2200	4289	6489	SO:0001583	missense	9582	3	120572	36				g.chr22:39382043C>T	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.401C>T	chr22.hg19:g.39382043C>T	ENSP00000327459:p.Ala134Val	0					APOBEC3B_ENST00000402182.3_Missense_Mutation_p.A134V|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.A134V	p.A134V	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	0	0	0	1.958883	Q9UH17	ABC3B_HUMAN		3	446	+	Melanoma(58;0.04)		B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	1	1	hg19	c.401C>T	CCDS13982.1	0	.	.	.	.	.	.	.	.	.	.	.	13.82	2.350943	0.41599	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.67698	-0.28;-0.28;-0.28	2.12	-1.53	0.08611	2.12	-1.53	0.08611	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.66528	0.2798	M	0.64997	1.995	0.09310	N	1	P;D	0.61697	0.92;0.99	B;P	0.53649	0.375;0.731	T	0.57171	-0.7857	9	0.56958	D	0.05	.	3.7999	0.08754	0.3031:0.2104:0.4865:0.0	.	134;134	B0QYD2;Q9UH17	.;ABC3B_HUMAN	V	134	ENSP00000385068:A134V;ENSP00000385060:A134V;ENSP00000327459:A134V	ENSP00000327459:A134V	A	+	2	0	0	APOBEC3B	37711989	37711989	1.000000	0.71417	0.002000	0.10522	0.013000	0.08279	2.701000	0.47094	-0.292000	0.08999	0.194000	0.17425	GCG	0.266605		TCGA-F2-A44G-01A-11D-A26I-08	0.607	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	1	0	1	2	2	2	2	0	0	0	0	140	140	140	125	1	1.940000	-3.318794	1	0.290000	NM_004900		0	57	51	0	420	355	0		1	1		0	0	140	0	0	1.000000	6.540285e-01	0	13	0	5	0	57	420
MALL	7851	broad.mit.edu	37	2	110849265	110849265	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:110849265G>A	ENST00000272462.2	-	2	961	c.188C>T	c.(187-189)tCg>tTg	p.S63L	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	63	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CGAGGTGAGCGAGACATACAT	0.448																																						ENST00000272462.2	0.660000	0.320000	5.600000e-01	3.900000e-01	0.460000	0.481252	0.460000	0.460000																										0				9						c.(187-189)tCg>tTg		mal, T-cell differentiation protein-like							172.0	152.0	159.0					2																	110849265		2202	4298	6500	SO:0001583	missense	7851	4	121412	32				g.chr2:110849265G>A	U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.188C>T	chr2.hg19:g.110849265G>A	ENSP00000272462:p.Ser63Leu	0					MALL_ENST00000427178.1_Intron	p.S63L	NM_005434.4	NP_005425.1	1	2	3	2.027502	Q13021	MALL_HUMAN		2	961	-			B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	1	1	hg19	c.188C>T	CCDS2085.1	0	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645261	0.47258	.	.	ENSG00000144063	ENST00000272462	T	0.27557	1.66	3.47	3.47	0.39725	3.47	3.47	0.39725	Marvel (1);MARVEL-like domain (1);	0.000000	0.49916	D	0.000125	T	0.60586	0.2280	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69892	-0.5022	10	0.66056	D	0.02	-15.224	12.7991	0.57576	0.0:0.0:1.0:0.0	.	63	Q13021	MALL_HUMAN	L	63	ENSP00000272462:S63L	ENSP00000272462:S63L	S	-	2	0	0	MALL	110206554	110206554	1.000000	0.71417	0.887000	0.34795	0.156000	0.22039	5.864000	0.69575	1.664000	0.50801	0.313000	0.20887	TCG	0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.448	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	0	0	1	2	2	2	2	0	0	0	0	180	180	180	181	1	1.940000	-2.879455	1	0.290000	NM_005434		0	34	34	0	470	461	0		1	0		0	0	180	0	0	1.000000	9.996175e-01	0	0	0	165	0	34	470
CYP27A1	1593	broad.mit.edu	37	2	219678840	219678840	+	Missense_Mutation	SNP	G	G	C	rs369969903		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:219678840G>C	ENST00000258415.4	+	6	1541	c.1114G>C	c.(1114-1116)Ggg>Cgg	p.G372R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	372					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GGTGCCAGCCGGGCAAGTGCC	0.587																																						ENST00000258415.4	1.000000	0.650000	9.900000e-01	7.500000e-01	0.860000	0.867665	0.860000	1.000000																										0				26						c.(1114-1116)Ggg>Cgg		cytochrome P450, family 27, subfamily A, polypeptide 1	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)						81.0	69.0	73.0					2																	219678840		2203	4300	6503	SO:0001583	missense	1593	0	0					g.chr2:219678840G>C	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1114G>C	chr2.hg19:g.219678840G>C	ENSP00000258415:p.Gly372Arg	0						p.G372R	NM_000784.3	NP_000775.1	0	1	1	2.013637	Q02318	CP27A_HUMAN		6	1541	+		Renal(207;0.0474)	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	1	1	hg19	c.1114G>C	CCDS2423.1	1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905864	0.52333	.	.	ENSG00000135929	ENST00000258415	T	0.70282	-0.47	5.76	5.76	0.90799	5.76	5.76	0.90799	.	0.048229	0.85682	D	0.000000	T	0.65831	0.2729	L	0.57130	1.785	0.43982	D	0.996674	P	0.38167	0.621	B	0.38755	0.281	T	0.65117	-0.6246	10	0.36615	T	0.2	-35.6709	9.8121	0.40828	0.0748:0.1409:0.7843:0.0	.	372	Q02318	CP27A_HUMAN	R	372	ENSP00000258415:G372R	ENSP00000258415:G372R	G	+	1	0	0	CYP27A1	219387084	219387084	1.000000	0.71417	0.963000	0.40424	0.965000	0.64279	4.040000	0.57333	2.706000	0.92434	0.655000	0.94253	GGG	0.288969		TCGA-F2-A44G-01A-11D-A26I-08	0.587	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4	1	0	1	2	2	2	2	0	0	0	0	82	82	82	82	1	1.940000	-2.841741	1	0.290000			0	45	44	0	311	307	1		1	1		0	0	82	0	0	1.000000	9.999518e-01	0	7	0	97	0	45	311
MYLK	4638	broad.mit.edu	37	3	123411658	123411658	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:123411658C>T	ENST00000475616.1	-	16	3488	c.3489G>A	c.(3487-3489)gaG>gaA	p.E1163E	MYLK_ENST00000360772.3_Silent_p.E1163E|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Silent_p.E1163E|MYLK-AS2_ENST00000510827.1_RNA|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000359169.1_Silent_p.E1163E|MYLK_ENST00000346322.5_Silent_p.E1094E|MYLK_ENST00000354792.5_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	1163	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCCTCTGTCCTCAGGCAGTG	0.592																																						ENST00000475616.1	0.450000	0.140000	3.500000e-01	2.000000e-01	0.260000	0.283397	0.260000	0.260000																										0				113						c.(3487-3489)gaG>gaA		myosin light chain kinase							95.0	75.0	82.0					3																	123411658		2203	4300	6503	SO:0001819	synonymous_variant	4638	0	0					g.chr3:123411658C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3489G>A	chr3.hg19:g.123411658C>T		0					MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_5'Flank|MYLK_ENST00000360772.3_Silent_p.E1163E|MYLK_ENST00000359169.1_Silent_p.E1163E|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000346322.5_Silent_p.E1094E|MYLK-AS2_ENST00000510827.1_RNA|MYLK_ENST00000360304.3_Silent_p.E1163E	p.E1163E			1	2	3	2.024136	Q15746	MYLK_HUMAN		16	3488	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	1	1	hg19	c.3489G>A	CCDS46896.1	0																																																																																								0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.592	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1	2	2	2	2	0	0	0	0	103	103	103	101	1	1.940000	-3.153545	1	0.290000	NM_053025		0	13	13	0	333	333	0		1	0		0	0	103	0	0	0.999557	4.467138e-01	0	0	0	38	0	13	333
METTL14	57721	broad.mit.edu	37	4	119609076	119609076	+	Splice_Site	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119609076A>G	ENST00000388822.5	+	2	233		c.e2-1		METTL14_ENST00000506780.1_Splice_Site			Q9HCE5	MET14_HUMAN	methyltransferase like 14						mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GTCTTTTCTCAGTTGGGAGCT	0.383																																						ENST00000388822.5	1.000000	0.940000	1	9.900000e-01	0.990000	0.996592	0.990000	1.000000																										0				16						c.e2-1		methyltransferase like 14							94.0	92.0	93.0					4																	119609076		2203	4300	6503	SO:0001630	splice_region_variant	57721	0	0					g.chr4:119609076A>G	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.67-1A>G	chr4.hg19:g.119609076A>G		0					METTL14_ENST00000506780.1_Splice_Site				1	2	3	2.024334	Q9HCE5	MET14_HUMAN		2	233	+			A6NIG1|Q969V2	Splice_Site	SNP	ENST00000388822.5	1	1	hg19		CCDS34053.1	1	.	.	.	.	.	.	.	.	.	.	.	15.99	2.994997	0.54041	.	.	ENSG00000145388	ENST00000388822;ENST00000508801	.	.	.	5.5	5.5	0.81552	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9182	0.79539	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	METTL14	119828524	119828524	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	8.543000	0.90651	2.229000	0.72834	0.523000	0.50628	.	0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.383	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	1	0	1	2	2	2	2	0	0	0	0	79	79	79	79	1	1.940000	-20.000000	1	0.290000	NM_020961	Intron	0	48	47	0	220	216	1		1	1		0	0	79	0	0	1.000000	9.074625e-01	0	21	0	0	0	48	220
METTL14	57721	broad.mit.edu	37	4	119626803	119626803	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119626803G>A	ENST00000388822.5	+	10	1060	c.893G>A	c.(892-894)cGt>cAt	p.R298H	METTL14_ENST00000506780.1_Missense_Mutation_p.R260H			Q9HCE5	MET14_HUMAN	methyltransferase like 14	298					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.R298P(3)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ACTGTGAAGCGTAGCACAGAC	0.373																																						ENST00000388822.5	1.000000	0.670000	9.300000e-01	7.400000e-01	0.830000	0.838961	0.830000	0.830000																										3	Substitution - Missense(3)	p.R298P(3)	endometrium(3)	16						c.(892-894)cGt>cAt		methyltransferase like 14							166.0	162.0	163.0					4																	119626803		2203	4300	6503	SO:0001583	missense	57721	0	0					g.chr4:119626803G>A	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.893G>A	chr4.hg19:g.119626803G>A	ENSP00000373474:p.Arg298His	0					METTL14_ENST00000506780.1_Missense_Mutation_p.R260H	p.R298H			1	2	3	2.024334	Q9HCE5	MET14_HUMAN		10	1060	+			A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	1	1	hg19	c.893G>A	CCDS34053.1	0	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942676	0.92526	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.50001	0.76;0.76	5.82	4.98	0.66077	5.82	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83365	0.0004	10	0.72032	D	0.01	-3.4786	15.0159	0.71584	0.0684:0.0:0.9316:0.0	.	260;298	D6RBL4;Q9HCE5	.;MTL14_HUMAN	H	298;260	ENSP00000373474:R298H;ENSP00000424111:R260H	ENSP00000373474:R298H	R	+	2	0	0	METTL14	119846251	119846251	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.229000	0.95273	1.472000	0.48140	0.585000	0.79938	CGT	0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.373	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	1	0	1	2	2	2	2	0	0	0	0	173	173	173	173	1	1.940000	-20.000000	1	0.290000	NM_020961		0	82	81	0	598	594	1		1	1		0	0	173	0	0	1.000000	9.637034e-01	0	9	0	32	0	82	598
EPHA5	2044	broad.mit.edu	37	4	66535410	66535410	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:66535410G>A	ENST00000273854.3	-	1	651	c.51C>T	c.(49-51)ggC>ggT	p.G17G	RP11-807H7.1_ENST00000509473.1_lincRNA|EPHA5_ENST00000511294.1_Silent_p.G17G|EPHA5_ENST00000432638.2_Silent_p.G17G|EPHA5_ENST00000354839.4_Silent_p.G17G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	17					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGTCGCCGCCGCCGCTTgggg	0.756										TSP Lung(17;0.13)																												ENST00000273854.3	1.000000	0.200000	8.900000e-01	3.600000e-01	0.580000	0.611355	0.580000	1.000000																										0				142						c.(49-51)ggC>ggT		EPH receptor A5							4.0	6.0	5.0					4																	66535410		1796	3676	5472	SO:0001819	synonymous_variant	2044	0	0					g.chr4:66535410G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.51C>T	chr4.hg19:g.66535410G>A		0	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.G17G|EPHA5_ENST00000354839.4_Silent_p.G17G|EPHA5_ENST00000432638.2_Silent_p.G17G|RP11-807H7.1_ENST00000509473.1_lincRNA	p.G17G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	1	2	3	2.022744	P54756	EPHA5_HUMAN		1	651	-			Q7Z3F2	Silent	SNP	ENST00000273854.3	0	1	hg19	c.51C>T	CCDS3513.1	0																																																																																								0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.756	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	0	0	1	2	2	2	2	0	0	0	0	15	15	15	14	1	1.940000	-10.653830	1	0.290000	NM_004439		0	4	4	0	47	46	0		1			0	0	15	0	0	0.888377	0	0	0	0	0	0	4	47
HELQ	113510	broad.mit.edu	37	4	84342813	84342813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:84342813C>T	ENST00000295488.3	-	15	3014	c.2852G>A	c.(2851-2853)tGg>tAg	p.W951*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.W884*	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	951					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGATACAGTCCAAATGTTGGT	0.358								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3	1.000000	0.720000	1	8.500000e-01	0.990000	0.943313	0.990000	1.000000																										0				38						c.(2851-2853)tGg>tAg	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							94.0	93.0	93.0					4																	84342813		2203	4300	6503	SO:0001587	stop_gained	113510	0	0					g.chr4:84342813C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2852G>A	chr4.hg19:g.84342813C>T	ENSP00000295488:p.Trp951*	0					HELQ_ENST00000510985.1_Nonsense_Mutation_p.W884*	p.W951*	NM_133636.2	NP_598375	1	2	3	2.024334	Q8TDG4	HELQ_HUMAN		15	3014	-			Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Nonsense_Mutation	SNP	ENST00000295488.3	0	1	hg19	c.2852G>A	CCDS3603.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.277624	0.99122	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	.	.	.	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.118507	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-3.6571	17.0371	0.86479	0.0:1.0:0.0:0.0	.	.	.	.	X	951;884	.	ENSP00000295488:W951X	W	-	2	0	0	HELQ	84561837	84561837	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.116000	0.77119	2.458000	0.83093	0.591000	0.81541	TGG	0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.358	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	1	0	1	2	2	2	2	0	0	0	0	62	62	62	62	1	1.940000	-2.884609	1	0.290000	NM_133636		0	37	35	0	220	219	1		1	1		0	0	62	0	0	1.000000	4.413151e-01	0	4	0	6	0	37	220
DDX60L	91351	broad.mit.edu	37	4	169374381	169374381	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:169374381C>T	ENST00000511577.1	-	8	1137	c.890G>A	c.(889-891)cGt>cAt	p.R297H	DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H|DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	297							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.R297L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACAGAGGCAACGCAGTCTGCA	0.458																																						ENST00000511577.1	1.000000	0.570000	9.600000e-01	6.800000e-01	0.810000	0.816194	0.810000	1.000000																										1	Substitution - Missense(1)	p.R297L(1)	lung(1)	43						c.(889-891)cGt>cAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							88.0	92.0	90.0					4																	169374381		2003	4176	6179	SO:0001583	missense	91351	8	120932	41				g.chr4:169374381C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.890G>A	chr4.hg19:g.169374381C>T	ENSP00000422423:p.Arg297His	0					DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H|DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H	p.R297H			1	2	3	2.024334	Q5H9U9	DDX6L_HUMAN		8	1137	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	1	1	hg19	c.890G>A		0	.	.	.	.	.	.	.	.	.	.	C	2.777	-0.254392	0.05829	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.15718	2.4;2.4;2.4;3.06	3.3	-1.09	0.09904	3.3	-1.09	0.09904	.	0.782659	0.10119	N	0.713632	T	0.04452	0.0122	N	0.01009	-1.055	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.44360	-0.9333	10	0.14656	T	0.56	.	6.5863	0.22622	0.0:0.3112:0.0:0.6888	.	297;297;297	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	297;297;297;25	ENSP00000260184:R297H;ENSP00000422423:R297H;ENSP00000422202:R297H;ENSP00000421026:R25H	ENSP00000260184:R297H	R	-	2	0	0	DDX60L	169610956	169610956	0.015000	0.18098	0.001000	0.08648	0.759000	0.43091	0.485000	0.22324	-0.458000	0.07023	-0.444000	0.05651	CGT	0.292053		TCGA-F2-A44G-01A-11D-A26I-08	0.458	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1	2	2	2	2	0	0	0	0	120	120	120	120	1	1.940000	-20.000000	1	0.290000	NM_001012967		0	33	33	0	249	247	1		1	1		0	0	120	0	0	1.000000	2.017550e-01	0	3	0	4	0	33	249
TRPC7	57113	broad.mit.edu	37	5	135587384	135587384	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:135587384G>A	ENST00000513104.1	-	6	1814	c.1532C>T	c.(1531-1533)aCg>aTg	p.T511M	TRPC7_ENST00000355180.3_Missense_Mutation_p.T450M|TRPC7_ENST00000426057.2_Missense_Mutation_p.T395M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	511					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTGTGCAGCGTGTCGTCCTG	0.602																																						ENST00000513104.1	1.000000	0.670000	1	8.100000e-01	0.980000	0.929090	0.980000	1.000000																										0				46						c.(1531-1533)aCg>aTg		transient receptor potential cation channel, subfamily C, member 7							55.0	58.0	57.0					5																	135587384		2159	4258	6417	SO:0001583	missense	57113	1	121194	24				g.chr5:135587384G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1532C>T	chr5.hg19:g.135587384G>A	ENSP00000426070:p.Thr511Met	0					TRPC7_ENST00000355180.3_Missense_Mutation_p.T450M|TRPC7_ENST00000426057.2_Missense_Mutation_p.T395M	p.T511M	NM_020389.2	NP_065122.1	0	1	1	2.016298	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	6	1814	-			A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	1	1	hg19	c.1532C>T	CCDS47267.2	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730593	0.30684	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79554	-1.08;-1.28;-1.15	5.21	4.28	0.50868	5.21	4.28	0.50868	Ion transport (1);	0.529059	0.20685	N	0.087579	T	0.81317	0.4797	L	0.39898	1.24	0.33214	D	0.553753	D;P;P;P	0.61697	0.99;0.814;0.846;0.792	P;B;P;P	0.59595	0.86;0.311;0.46;0.505	T	0.81856	-0.0740	10	0.32370	T	0.25	-11.4232	11.0783	0.48045	0.0:0.0:0.6422:0.3578	.	395;450;456;511	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	M	450;395;511;511	ENSP00000347312:T450M;ENSP00000441628:T395M;ENSP00000426070:T511M	ENSP00000265193:T511M	T	-	2	0	0	TRPC7	135615283	135615283	1.000000	0.71417	0.980000	0.43619	0.056000	0.15407	4.339000	0.59322	2.720000	0.93068	0.650000	0.86243	ACG	0.288969		TCGA-F2-A44G-01A-11D-A26I-08	0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	1	0	1	2	2	2	2	0	0	0	0	44	44	44	44	1	1.940000	-20.000000	1	0.290000	NM_020389		0	27	26	0	162	158	1		1			0	0	44	0	0	1.000000	0	0	0	0	0	0	27	162
PCDHB11	56125	broad.mit.edu	37	5	140581425	140581425	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140581425C>T	ENST00000354757.3	+	1	2078	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A328V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	693					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A693V(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGTGGTGGCGTTGGCCTCG	0.692																																						ENST00000354757.3	1.000000	0.850000	1	9.200000e-01	0.990000	0.972208	0.990000	1.000000																										1	Substitution - Missense(1)	p.A693V(1)	large_intestine(1)	63						c.(2077-2079)gCg>gTg		protocadherin beta 11							85.0	86.0	85.0					5																	140581425		2203	4295	6498	SO:0001583	missense	56125	0	0					g.chr5:140581425C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2078C>T	chr5.hg19:g.140581425C>T	ENSP00000346802:p.Ala693Val	0					PCDHB11_ENST00000536699.1_Missense_Mutation_p.A328V	p.A693V	NM_018931.2	NP_061754.1	0	1	1	2.016298	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2078	+			B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	1	1	hg19	c.2078C>T	CCDS4253.1	1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.514543	0.85389	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.25250	1.81;1.81	2.64	2.64	0.31445	2.64	2.64	0.31445	.	.	.	.	.	T	0.63498	0.2516	H	0.98559	4.265	0.09310	N	1	D	0.76494	0.999	D	0.66196	0.942	T	0.59005	-0.7535	9	0.87932	D	0	.	10.5162	0.44892	0.0:0.8009:0.1991:0.0	.	693	Q9Y5F2	PCDBB_HUMAN	V	328;693	ENSP00000440344:A328V;ENSP00000346802:A693V	ENSP00000346802:A693V	A	+	2	0	0	PCDHB11	140561609	140561609	0.083000	0.21467	0.009000	0.14445	0.760000	0.43138	3.624000	0.54231	1.481000	0.48307	0.449000	0.29647	GCG	0.288969		TCGA-F2-A44G-01A-11D-A26I-08	0.692	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	1	0	1	2	2	2	2	0	0	0	0	284	284	284	275	1	1.940000	-20.000000	1	0.290000	NM_018931		0	160	150	0	941	908	1		1			0	0	284	0	0	1.000000	0	0	0	0	0	0	160	941
ANKH	56172	broad.mit.edu	37	5	14756009	14756009	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:14756009G>A	ENST00000284268.6	-	4	807	c.477C>T	c.(475-477)ttC>ttT	p.F159F	ANKH_ENST00000503939.1_5'Flank	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	159					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCCCACCAGGAAACTGTATT	0.453																																						ENST00000284268.6			0	0																														0				29						c.(475-477)ttC>ttT		ANKH inorganic pyrophosphate transport regulator							153.0	134.0	141.0					5																	14756009		2203	4300	6503	SO:0001819	synonymous_variant	56172	0	0					g.chr5:14756009G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.477C>T	chr5.hg19:g.14756009G>A							ANKH_ENST00000503939.1_5'Flank	p.F159F	NM_054027.4	NP_473368.1					Q9HCJ1	ANKH_HUMAN		4	807	-			B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	1	1	hg19	c.477C>T	CCDS3885.1																																																																																											TCGA-F2-A44G-01A-11D-A26I-08	0.453	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	1	0	1	2	2	2	2	0	0	0	0	115	115	115	113	1	1.940000	-20.000000	1	0.290000	NM_054027		0	51	51	0	258	255	1		1	1		0	0	115	0	0	1.000000	9.999853e-01	0	2	0	84	0	51	258
HEXB	3074	broad.mit.edu	37	5	73981215	73981215	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:73981215C>T	ENST00000261416.7	+	1	247	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	44					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GGAGGCGGCTCGGGCCCCGAG	0.711																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000261416.7	1.000000	0.600000	1	7.800000e-01	0.990000	0.921389	0.990000	1.000000																										0				14						c.(130-132)Cgg>Tgg		hexosaminidase B (beta polypeptide)							6.0	8.0	7.0					5																	73981215		2059	4036	6095	SO:0001583	missense	3074	2	116604	24				g.chr5:73981215C>T	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.130C>T	chr5.hg19:g.73981215C>T	ENSP00000261416:p.Arg44Trp	0					HEXB_ENST00000511181.1_Intron	p.R44W	NM_000521.3	NP_000512	0	1	1	2.016298	P07686	HEXB_HUMAN		1	247	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		Missense_Mutation	SNP	ENST00000261416.7	1	1	hg19	c.130C>T	CCDS4022.1	1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665782	0.29604	.	.	ENSG00000049860	ENST00000261416	D	0.96940	-4.18	1.75	1.75	0.24633	1.75	1.75	0.24633	.	0.771240	0.10531	U	0.663835	D	0.85553	0.5723	N	0.08118	0	0.09310	N	0.999993	P	0.45428	0.858	B	0.18561	0.022	T	0.81017	-0.1123	10	0.66056	D	0.02	6.7032	6.0566	0.19815	0.0:0.6722:0.3277:0.0	.	44	P07686	HEXB_HUMAN	W	44	ENSP00000261416:R44W	ENSP00000261416:R44W	R	+	1	2	2	HEXB	74016971	74016971	0.000000	0.05858	0.007000	0.13788	0.039000	0.13416	0.036000	0.13819	0.982000	0.38575	0.313000	0.20887	CGG	0.288969		TCGA-F2-A44G-01A-11D-A26I-08	0.711	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	1	0	1	2	2	2	2	0	0	0	0	22	22	22	21	1	1.940000	-20.000000	1	0.290000	NM_000521		0	14	14	0	81	79	0		1	1		0	0	22	0	0	0.999806	9.750120e-01	0	14	0	25	0	14	81
VCAN	1462	broad.mit.edu	37	5	82818108	82818108	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:82818108A>G	ENST00000265077.3	+	7	4548	c.3983A>G	c.(3982-3984)gAg>gGg	p.E1328G	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E1328G|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1280G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1328	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TATATTATTGAGGTCAGAGAA	0.403																																						ENST00000265077.3	1.000000	0.750000	1	8.500000e-01	0.950000	0.936869	0.950000	1.000000																										0				190						c.(3982-3984)gAg>gGg		versican	Hyaluronan(DB08818)						44.0	45.0	45.0					5																	82818108		2154	4128	6282	SO:0001583	missense	1462	0	0					g.chr5:82818108A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3983A>G	chr5.hg19:g.82818108A>G	ENSP00000265077:p.Glu1328Gly	0					VCAN_ENST00000342785.4_Missense_Mutation_p.E1328G|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1280G|VCAN_ENST00000502527.2_Intron	p.E1328G	NM_004385.4	NP_004376.2	0	1	1	2.016298	P13611	CSPG2_HUMAN		7	4548	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	1	1	hg19	c.3983A>G	CCDS4060.1	1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524357	0.44969	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86865	-2.1;-2.15;-2.18	5.61	3.08	0.35506	5.61	3.08	0.35506	.	0.311300	0.27735	N	0.018078	D	0.90937	0.7151	M	0.71581	2.175	0.27726	N	0.944977	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.922	D	0.84462	0.0594	10	0.87932	D	0	.	9.5811	0.39488	0.7423:0.1873:0.0705:0.0	.	1328;1328	P13611-3;P13611	.;CSPG2_HUMAN	G	1328;1328;1280	ENSP00000265077:E1328G;ENSP00000342768:E1328G;ENSP00000425959:E1280G	ENSP00000265077:E1328G	E	+	2	0	0	VCAN	82853864	82853864	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.791000	0.38744	0.967000	0.38186	-0.256000	0.11100	GAG	0.288969		TCGA-F2-A44G-01A-11D-A26I-08	0.403	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	1	0	1	2	2	2	2	0	0	0	0	130	130	130	128	1	1.940000	-20.000000	1	0.290000	NM_004385		0	63	63	0	388	385	1		1	0		0	0	130	0	0	1.000000	5.481393e-02	0	1	0	2	0	63	388
PCDHGA8	9708	broad.mit.edu	37	5	140772668	140772668	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140772668C>T	ENST00000398604.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTCTGCGCTCAGAGCC	0.498																																						ENST00000398604.2	0.380000	0.130000	3.100000e-01	1.700000e-01	0.230000	0.247538	0.230000	0.230000																										0				51						c.(286-288)tgC>tgT		protocadherin gamma subfamily A, 8							30.0	37.0	35.0					5																	140772668		2159	4287	6446	SO:0001819	synonymous_variant	9708	0	0					g.chr5:140772668C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.288C>T	chr5.hg19:g.140772668C>T		0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	p.C96C	NM_032088.1	NP_114477.1	0	1	1	2.016298	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	288	+			A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	1	1	hg19	c.288C>T	CCDS47291.1	0																																																																																								0.288969		TCGA-F2-A44G-01A-11D-A26I-08	0.498	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	0	0	1	2	2	2	2	0	0	0	0	119	119	119	119	1	1.940000	-13.047720	1	0.290000	NM_032088		0	13	12	0	372	368	0		1			0	0	119	0	0	0.999512	0	0	0	0	0	0	13	372
ATP6V0A4	50617	broad.mit.edu	37	7	138447711	138447711	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:138447711C>G	ENST00000310018.2	-	6	633	c.351G>C	c.(349-351)ttG>ttC	p.L117F	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	117					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.L117F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCTTTGTTTCAAGGCCTGCT	0.463																																						ENST00000310018.2	1.000000	0.840000	1	9.300000e-01	0.990000	0.977036	0.990000	1.000000																										1	Substitution - Missense(1)	p.L117F(1)	lung(1)	36						c.(349-351)ttG>ttC		ATPase, H+ transporting, lysosomal V0 subunit a4							192.0	174.0	180.0					7																	138447711		2203	4300	6503	SO:0001583	missense	50617	0	0					g.chr7:138447711C>G	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.351G>C	chr7.hg19:g.138447711C>G	ENSP00000308122:p.Leu117Phe	0					ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000483139.1_5'UTR	p.L117F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	0	0	0	1.997391	Q9HBG4	VPP4_HUMAN		6	633	-			A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	1	1	hg19	c.351G>C	CCDS5849.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124827	0.77436	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.91996	-2.95;-2.95;-2.95	5.21	3.41	0.39046	5.21	3.41	0.39046	.	0.154984	0.36444	N	0.002582	D	0.96241	0.8774	M	0.92555	3.32	0.58432	D	0.99999	D	0.63880	0.993	D	0.65773	0.938	D	0.96063	0.9040	10	0.72032	D	0.01	-26.1136	11.3732	0.49713	0.0:0.8512:0.0:0.1488	.	117	Q9HBG4	VPP4_HUMAN	F	117	ENSP00000308122:L117F;ENSP00000376774:L117F;ENSP00000253856:L117F	ENSP00000308122:L117F	L	-	3	2	2	ATP6V0A4	138098251	138098251	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.985000	0.40668	0.865000	0.35603	0.655000	0.94253	TTG	0.281667		TCGA-F2-A44G-01A-11D-A26I-08	0.463	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	1	0	1	2	2	2	2	0	0	0	0	178	178	178	176	1	1.940000	-20.000000	1	0.290000	NM_020632		0	92	91	0	514	510	1		1			0	0	178	0	0	1.000000	0	0	0	0	0	0	92	514
ATG9B	285973	broad.mit.edu	37	7	150716447	150716447	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:150716447C>T	ENST00000377974.2	-	6	1053	c.978G>A	c.(976-978)tcG>tcA	p.S326S	ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Silent_p.S326S			Q674R7	ATG9B_HUMAN	autophagy related 9B	326					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGGAACCGAGCTCAGCT	0.667																																						ENST00000377974.2	1.000000	0.380000	8.400000e-01	5.000000e-01	0.650000	0.675509	0.650000	1.000000																										0				14						c.(976-978)tcG>tcA		autophagy related 9B							16.0	18.0	18.0					7																	150716447		2035	4176	6211	SO:0001819	synonymous_variant	285973	0	0					g.chr7:150716447C>T	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.978G>A	chr7.hg19:g.150716447C>T		0					ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Silent_p.S326S|ATG9B_ENST00000444312.1_Intron	p.S326S			0	0	0	2.006556	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	6	1053	-	all_neural(206;0.219)		A1A5D3|Q6JRW5|Q8N8I8	Silent	SNP	ENST00000377974.2	0	1	hg19	c.978G>A		0																																																																																								0.285858		TCGA-F2-A44G-01A-11D-A26I-08	0.667	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	41	41	41	41	1	1.940000	-19.833590	1	0.290000	NM_173681		0	14	14	0	133	132	0		1	0		0	0	41	0	0	0.999794	0	0	0	0	1	0	14	133
DLGAP2	9228	broad.mit.edu	37	8	1626541	1626541	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:1626541C>T	ENST00000421627.2	+	9	2344	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	816					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAGTACAGCGCGGTGAGAACT	0.632																																						ENST00000421627.2	1.000000	0.690000	1	8.200000e-01	0.970000	0.928550	0.970000	1.000000																										0				41						c.(2209-2211)gCg>gTg		discs, large (Drosophila) homolog-associated protein 2							46.0	54.0	51.0					8																	1626541		2014	4169	6183	SO:0001583	missense	9228	2	120946	27				g.chr8:1626541C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2210C>T	chr8.hg19:g.1626541C>T	ENSP00000400258:p.Ala737Val	0					DLGAP2_ENST00000524065.1_3'UTR	p.A737V	NM_004745.3	NP_004736.2	1	2	3	2.075118	Q9P1A6	DLGP2_HUMAN		9	2344	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	1	1	hg19	c.2210C>T	CCDS47760.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.172334|2.172334	0.38315|0.38315	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19938|.	2.11|.	5.32|5.32	4.44|4.44	0.53790|0.53790	5.32|5.32	4.44|4.44	0.53790|0.53790	.|.	0.094982|.	0.64402|.	N|.	0.000001|.	T|T	0.60157|0.60157	0.2247|0.2247	L|L	0.46614|0.46614	1.455|1.455	0.48696|0.48696	D|D	0.999694|0.999694	P;P|.	0.50943|.	0.94;0.894|.	B;P|.	0.46237|.	0.374;0.508|.	T|T	0.57063|0.57063	-0.7875|-0.7875	10|5	0.02654|.	T|.	1|.	-8.3498|-8.3498	13.6933|13.6933	0.62562|0.62562	0.0:0.9256:0.0:0.0744|0.0:0.9256:0.0:0.0744	.|.	802;816|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|W	768;737|740	ENSP00000400258:A737V|.	ENSP00000348366:A768V|.	A|R	+|+	2|1	0|2	0|2	DLGAP2|DLGAP2	1613948|1613948	1613948|1613948	1.000000|1.000000	0.71417|0.71417	0.422000|0.422000	0.26621|0.26621	0.513000|0.513000	0.34164|0.34164	4.501000|4.501000	0.60393|0.60393	1.233000|1.233000	0.43693|0.43693	0.650000|0.650000	0.86243|0.86243	GCG|CGG	0.301147		TCGA-F2-A44G-01A-11D-A26I-08	0.632	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1	2	2	2	2	0	0	0	0	77	77	77	74	1	1.940000	-20.000000	1	0.290000	NM_004745		0	37	37	0	235	235	1		1			0	0	77	0	0	1.000000	0	0	0	0	0	0	37	235
ZFPM2	23414	broad.mit.edu	37	8	106815377	106815377	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:106815377G>A	ENST00000407775.2	+	8	3317	c.3067G>A	c.(3067-3069)Ggg>Agg	p.G1023R	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G754R|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G891R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G891R|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1023					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCCTCAAATGGGTGTGCTGC	0.433																																						ENST00000407775.2	1.000000	0.390000	7.900000e-01	5.000000e-01	0.630000	0.651935	0.630000	0.610000																										0				99						c.(3067-3069)Ggg>Agg		zinc finger protein, FOG family member 2							65.0	63.0	64.0					8																	106815377		1939	4133	6072	SO:0001583	missense	23414	0	0					g.chr8:106815377G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3067G>A	chr8.hg19:g.106815377G>A	ENSP00000384179:p.Gly1023Arg	0					ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G754R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G891R|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G891R|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	p.G1023R	NM_012082.3	NP_036214.2	1	2	3	2.041160	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)	8	3317	+			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	1	1	hg19	c.3067G>A	CCDS47908.1	0	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774158	0.31411	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.24350	1.86;2.36;2.36;3.56	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.045750	0.85682	D	0.000000	T	0.14442	0.0349	N	0.19112	0.55	0.80722	D	1	P	0.43938	0.822	B	0.32211	0.142	T	0.04811	-1.0925	10	0.33141	T	0.24	.	13.5936	0.61975	0.0705:0.0:0.9295:0.0	.	1023	Q8WW38	FOG2_HUMAN	R	1023;891;891;754	ENSP00000384179:G1023R;ENSP00000430757:G891R;ENSP00000428720:G891R;ENSP00000367733:G754R	ENSP00000367733:G754R	G	+	1	0	0	ZFPM2	106884553	106884553	1.000000	0.71417	0.952000	0.39060	0.888000	0.51559	6.872000	0.75536	2.831000	0.97527	0.650000	0.86243	GGG	0.295110		TCGA-F2-A44G-01A-11D-A26I-08	0.433	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1	1	0	1	2	2	2	2	0	0	0	0	81	81	81	81	1	1.940000	-2.559130	1	0.290000			0	20	20	0	204	203	0		1	0		0	0	81	0	0	0.999996	2.028125e-01	0	0	0	9	0	20	204
CDK20	23552	broad.mit.edu	37	9	90584165	90584165	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr9:90584165C>A	ENST00000325303.8	-	7	1092	c.787G>T	c.(787-789)Gat>Tat	p.D263Y	CDK20_ENST00000375883.3_Missense_Mutation_p.D242Y|CDK20_ENST00000375871.4_Missense_Mutation_p.W200C|CDK20_ENST00000336654.5_Missense_Mutation_p.D255Y|CDK20_ENST00000605159.1_Missense_Mutation_p.D242Y	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						CCCAGCAGATCCAATGCCTGG	0.597																																						ENST00000325303.8	0.940000	0.680000	8.800000e-01	7.400000e-01	0.800000	0.814928	0.800000	0.810000																										0				1						c.(787-789)Gat>Tat		cyclin-dependent kinase 20							206.0	185.0	192.0					9																	90584165		2203	4300	6503	SO:0001583	missense	23552	0	0					g.chr9:90584165C>A	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.787G>T	chr9.hg19:g.90584165C>A	ENSP00000322343:p.Asp263Tyr	1					CDK20_ENST00000605159.1_Missense_Mutation_p.D242Y|CDK20_ENST00000336654.5_Missense_Mutation_p.D255Y|CDK20_ENST00000375883.3_Missense_Mutation_p.D242Y|CDK20_ENST00000375871.4_Missense_Mutation_p.W200C	p.D263Y	NM_001039803.2	NP_001034892.1	0	1	1	1.733556	Q8IZL9	CDK20_HUMAN		7	1092	-			A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Missense_Mutation	SNP	ENST00000325303.8	1	1	hg19	c.787G>T	CCDS35060.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.29|12.29	1.893182|1.893182	0.33442|0.33442	.|.	.|.	ENSG00000156345|ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000325303;ENST00000286878|ENST00000375871	T;T;T|T	0.55413|0.63744	0.52;0.52;0.52|-0.06	4.64|4.64	3.67|3.67	0.42095|0.42095	4.64|4.64	3.67|3.67	0.42095|0.42095	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.370436|.	0.29522|.	N|.	0.011907|.	T|T	0.51601|0.51601	0.1684|0.1684	.|.	.|.	.|.	0.37885|0.37885	D|D	0.930512|0.930512	P;D;P|B	0.59357|0.09022	0.856;0.985;0.774|0.002	P;D;P|B	0.66979|0.10450	0.646;0.948;0.832|0.005	T|T	0.58183|0.58183	-0.7681|-0.7681	9|8	0.87932|0.72032	D|D	0|0.01	-26.4582|-26.4582	9.746|9.746	0.40446|0.40446	0.0:0.7261:0.2739:0.0|0.0:0.7261:0.2739:0.0	.|.	255;242;263|200	A2A390;E7EQ88;Q8IZL9|Q8IZL9-2	.;.;CDK20_HUMAN|.	Y|C	242;255;263;242|200	ENSP00000365043:D242Y;ENSP00000338975:D255Y;ENSP00000322343:D263Y|ENSP00000365031:W200C	ENSP00000286878:D242Y|ENSP00000365031:W200C	D|W	-|-	1|3	0|0	0|0	CDK20|CDK20	89773985|89773985	89773985|89773985	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.112000|0.112000	0.19704|0.19704	1.072000|1.072000	0.30678|0.30678	2.296000|2.296000	0.77279|0.77279	0.655000|0.655000	0.94253|0.94253	GAT|TGG	0.169591		TCGA-F2-A44G-01A-11D-A26I-08	0.597	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	1	0	1	2	2	2	2	0	0	0	0	334	334	334	329	1	1.940000	-20.000000	1	0.290000	NM_012119		0	130	131	0	810	800	1		1	1		0	0	334	0	0	1.000000	4.643487e-01	0	3	0	8	0	130	810
CSTF2	1478	broad.mit.edu	37	X	100078981	100078981	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:100078981C>T	ENST00000372972.2	+	5	567	c.551C>T	c.(550-552)cCg>cTg	p.P184L	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.P184L	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	184	Interactions with CSTF3 and SYMPK.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						ATTGTGGATCCGGAAATTGCC	0.468																																						ENST00000372972.2	0.960000	0.660000	8.900000e-01	7.200000e-01	0.800000	0.812546	0.800000	0.800000																										0				13						c.(550-552)cCg>cTg		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							180.0	155.0	164.0					X																	100078981		2203	4300	6503	SO:0001583	missense	1478	0	0					g.chrX:100078981C>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.551C>T	chrX.hg19:g.100078981C>T	ENSP00000362063:p.Pro184Leu						CSTF2_ENST00000415585.2_Missense_Mutation_p.P184L|SNORA9_ENST00000365361.1_RNA	p.P184L	NM_001325.2	NP_001316.1	0	1	1		P33240	CSTF2_HUMAN		5	567	+			Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	1	1	hg19	c.551C>T	CCDS14473.1	0	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441413	0.83993	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.18810	2.27;2.22;2.19	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.92555	3.32	0.80722	D	1	D;P;P	0.71674	0.998;0.723;0.941	D;B;P	0.65323	0.934;0.206;0.603	T	0.69124	-0.5228	10	0.72032	D	0.01	-6.4506	18.0432	0.89324	0.0:1.0:0.0:0.0	.	184;184;184	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	L	184;184;184;175	ENSP00000387996:P184L;ENSP00000362063:P184L;ENSP00000415705:P175L	ENSP00000362063:P184L	P	+	2	0	0	CSTF2	99965637	99965637	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.237000	0.78164	2.196000	0.70406	0.600000	0.82982	CCG	0.290000		TCGA-F2-A44G-01A-11D-A26I-08	0.468	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	1	0	1	2	2	2	2	0	0	0	0	223	223	223	223	1	1.940000	-2.774725	1	0.290000	NM_001325		0	95	95	0	715	712	1		1	1		0	0	223	0	0	1.000000	7.898065e-01	0	19	0	5	0	95	715
BHLHB9	80823	broad.mit.edu	37	X	102004384	102004384	+	Missense_Mutation	SNP	C	C	T	rs141213425	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:102004384C>T	ENST00000372735.1	+	4	1046	c.461C>T	c.(460-462)gCg>gTg	p.A154V	BHLHB9_ENST00000447531.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A154V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A154V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	154					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGAACCTGCGGCTGGGGCC	0.493																																						ENST00000372735.1	1.000000	0.810000	1	8.800000e-01	0.950000	0.947233	0.950000	1.000000																										0				26						c.(460-462)gCg>gTg		basic helix-loop-helix domain containing, class B, 9		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,3834		0,1,0,1631,571	77.0	82.0	80.0		461,461,461,461,461,461,461,461	-3.8	0.0	X	dbSNP_134	80	7,6721		0,4,3,2424,1869	yes	missense,missense,missense,missense,missense,missense,missense,missense	BHLHB9	NM_001142524.1,NM_001142525.1,NM_001142526.1,NM_001142527.1,NM_001142528.1,NM_001142529.1,NM_001142530.1,NM_030639.2	64,64,64,64,64,64,64,64	0,5,3,4055,2440	TT,TC,T,CC,C		0.104,0.0261,0.0757	benign,benign,benign,benign,benign,benign,benign,benign	154/548,154/548,154/548,154/548,154/548,154/548,154/548,154/548	102004384	8,10555	2203	4300	6503	SO:0001583	missense	80823	92	121410	53				g.chrX:102004384C>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.461C>T	chrX.hg19:g.102004384C>T	ENSP00000361820:p.Ala154Val						BHLHB9_ENST00000361229.4_Missense_Mutation_p.A154V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A154V	p.A154V			0	1	1		Q6PI77	BHLH9_HUMAN		4	1046	+			Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	1	1	hg19	c.461C>T	CCDS14502.1	1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.284174	0.01398	2.61E-4	0.00104	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.28	-3.82	0.04281	4.28	-3.82	0.04281	.	1.511530	0.04870	N	0.445679	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41556	-0.9502	9	.	.	.	-24.6357	6.258	0.20884	0.163:0.5429:0.0:0.2941	.	154	Q6PI77	BHLH9_HUMAN	V	154	ENSP00000403226:A154V;ENSP00000354675:A154V;ENSP00000405893:A154V;ENSP00000391722:A154V;ENSP00000361820:A154V	.	A	+	2	0	0	BHLHB9	101891040	101891040	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.898000	0.04105	-0.959000	0.03618	-0.395000	0.06472	GCG	0.290000		TCGA-F2-A44G-01A-11D-A26I-08	0.493	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	1	0	0	2	2	2	2	0	0	0	0	265	265	265	263	1	1.940000	-9.153462	1	0.290000	NM_030639		0	131	130	0	809	796	1		1	0		0	0	265	0	0	1.000000	0	0	0	0	1	0	131	809
TEX13A	56157	broad.mit.edu	37	X	104463929	104463929	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:104463929G>T	ENST00000413579.1	-	5	1058	c.947C>A	c.(946-948)aCt>aAt	p.T316N	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L317I|TEX13A_ENST00000372578.3_Missense_Mutation_p.L317I|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	316							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGGGGATATAGTGGGTATGTC	0.557																																						ENST00000413579.1	1.000000	0.690000	1	8.000000e-01	0.910000	0.905350	0.910000	1.000000																										0				8						c.(946-948)aCt>aAt		testis expressed 13A							105.0	103.0	104.0					X																	104463929		2180	4289	6469	SO:0001583	missense	56157	0	0					g.chrX:104463929G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.947C>A	chrX.hg19:g.104463929G>T	ENSP00000399753:p.Thr316Asn						TEX13A_ENST00000372578.3_Missense_Mutation_p.L317I|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L317I|IL1RAPL2_ENST00000372582.1_Intron	p.T316N			0	1	1		Q9BXU3	TX13A_HUMAN		5	1058	-			B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	1	1	hg19	c.947C>A		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.942954|1.942954	0.34283|0.34283	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.32|3.32	1.48|1.48	0.22813|0.22813	3.32|3.32	1.48|1.48	0.22813|0.22813	.|.	.|1.263750	.|0.05914	.|N	.|0.632236	T|T	0.43809|0.43809	0.1264|0.1264	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.52598	.|0.703	T|T	0.21724|0.21724	-1.0237|-1.0237	6|9	0.87932|0.56958	D|D	0|0.05	.|.	3.943|3.943	0.09336|0.09336	0.146:0.2451:0.6089:0.0|0.146:0.2451:0.6089:0.0	.|.	.|316	.|Q9BXU3	.|TX13A_HUMAN	I|N	317|316	.|.	ENSP00000361656:L317I|ENSP00000399753:T316N	L|T	-|-	1|2	2|0	2|0	TEX13A|TEX13A	104350585|104350585	104350585|104350585	0.026000|0.026000	0.19158|0.19158	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	1.926000|1.926000	0.40084|0.40084	0.262000|0.262000	0.21774|0.21774	-0.545000|-0.545000	0.04230|0.04230	CTA|ACT	0.290000		TCGA-F2-A44G-01A-11D-A26I-08	0.557	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	80	80	80	78	1	1.940000	-20.000000	1	0.290000	NM_031274		0	51	51	0	332	329	1		1			0	0	80	0	0	1.000000	0	0	0	0	0	0	51	332
