#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
HPSE2	60495	broad.mit.edu	37	10	100503755	100503755	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:100503755delA	ENST00000370552.3	-	4	728	c.669delT	c.(667-669)tttfs	p.F223fs	HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Frame_Shift_Del_p.F223fs	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	223					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CATTTAGAGCAAATATCAGGT	0.428																																						ENST00000370552.3	1.000000	6.500000e-01	0.950000	0.740000	0.830000	0.843072	0.830000	1.000000																										0				40						c.(667-669)tttfs		heparanase 2 (inactive)							98.0	94.0	96.0					10																	100503755		2203	4300	6503	SO:0001589	frameshift_variant	60495	0	0					g.chr10:100503755delA	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.669delT	chr10.hg19:g.100503755delA	ENSP00000359583:p.Phe223fs	0					HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Frame_Shift_Del_p.F223fs|HPSE2_ENST00000404542.1_Intron	p.F223fs	NM_021828.4	NP_068600.4	1	2	3	2.070880	Q8WWQ2	HPSE2_HUMAN		4	728	-			Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Frame_Shift_Del	DEL	ENST00000370552.3	1	0	hg19	c.669delT	CCDS7477.1	0																																																																																								0.384676		TCGA-FB-AAQ3-01A-11D-A40W-08	0.428	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	1	0	1		45			0		0	5	71		71	71	1	1.890000	-20.000000	1	0.380000	NM_021828			63	81		337	335	0		1			0	0	71	0		0.985025			0	0	0	0	63	337
SMAD4	4089	broad.mit.edu	37	18	48603039	48603066	+	Frame_Shift_Del	DEL	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	-	rs377767362|rs377767363|rs377767361|rs587781359		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08			TGCAGCAGCAGGCGGCTACTGCACAAGC	-	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr18:48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	ENST00000342988.3	+	11	1878_1905	c.1340_1367delTGCAGCAGCAGGCGGCTACTGCACAAGC	c.(1339-1368)atgcagcagcaggcggctactgcacaagctfs	p.MQQQAATAQA447fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.MQQQAATAQA351fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.MQQQAATAQA447fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	447	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.Q450fs*17(1)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCT	0.452																																						ENST00000342988.3	0.530000	1.900000e-01	0.440000	0.260000	0.340000	0.354417	0.340000	0.340000																										42	Whole gene deletion(36)|Deletion - Frameshift(4)|Unknown(2)	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.Q450fs*17(1)|p.R441fs*16(1)	pancreas(27)|large_intestine(6)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	454	GRCh37	CD064636|CM021631	SMAD4	D|M		c.(1339-1368)atgcagcagcaggcggctactgcacaagctfs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089	0	0					g.chr18:48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1340_1367delTGCAGCAGCAGGCGGCTACTGCACAAGC	chr18.hg19:g.48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	ENSP00000341551:p.Met447fs	1					SMAD4_ENST00000588745.1_Frame_Shift_Del_p.MQQQAATAQA351fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.MQQQAATAQA447fs	p.MQQQAATAQA447fs	NM_005359.5	NP_005350.1	0	1	1	1.636180	Q13485	SMAD4_HUMAN		11	1878_1905	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	0	1	hg19	c.1340_1367delTGCAGCAGCAGGCGGCTACTGCACAAGC	CCDS11950.1	0																																																																																								0.238142		TCGA-FB-AAQ3-01A-11D-A40W-08	0.452	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1		35	2	2	0		0	5	48		48	53	1	1.890000	-6.296979	1	0.380000	NM_005359			14	47		162	193	0		1	0	1	0	0	48	549		0.024834	1.152198e-01	1	0	72	7	586	14	162
PPRC1	23082	broad.mit.edu	37	10	103900075	103900075	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:103900075C>T	ENST00000278070.2	+	5	1849	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.P604S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTAGCTGGCCCTGTACCTGT	0.577																																						ENST00000278070.2	1.000000	2.000000e-02	0.120000	0.040000	0.070000	0.107694	0.070000	0.070000																										0				56						c.(1810-1812)Cct>Tct		peroxisome proliferator-activated receptor gamma, coactivator-related 1							140.0	118.0	125.0					10																	103900075		2203	4300	6503	SO:0001583	missense	23082	0	0					g.chr10:103900075C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1810C>T	chr10.hg19:g.103900075C>T	ENSP00000278070:p.Pro604Ser	0					PPRC1_ENST00000413464.2_Missense_Mutation_p.P604S|PPRC1_ENST00000370012.1_5'Flank	p.P604S	NM_015062.3	NP_055877.3	1	2	3	2.070880	Q5VV67	PPRC1_HUMAN		5	1849	+		Colorectal(252;0.122)	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	0	1	hg19	c.1810C>T	CCDS7529.1	0	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971154	0.53614	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.33438	1.41;1.41	4.3	-1.15	0.09709	4.3	-1.15	0.09709	.	0.231155	0.22393	N	0.060651	T	0.12135	0.0295	N	0.19112	0.55	0.09310	N	0.999999	B;B;B	0.17667	0.013;0.023;0.013	B;B;B	0.12156	0.003;0.007;0.003	T	0.13229	-1.0517	10	0.19147	T	0.46	.	0.2406	0.00191	0.2904:0.289:0.1519:0.2687	.	604;484;604	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	S	604	ENSP00000278070:P604S;ENSP00000399743:P604S	ENSP00000278070:P604S	P	+	1	0	0	PPRC1	103890065	103890065	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	-0.480000	0.06559	-0.177000	0.10690	0.561000	0.74099	CCT	0.384676		TCGA-FB-AAQ3-01A-11D-A40W-08	0.577	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	0	0	1		2	2	2	0		0	0	86		86	86	1	1.890000	-3.134258	1	0.380000	NM_015062			5	5		383	376	0		1			0	0	86	0		0.934895	0	0	0	0	0	0	5	383
DOCK1	1793	broad.mit.edu	37	10	129216680	129216680	+	Missense_Mutation	SNP	G	G	A	rs369052092		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:129216680G>A	ENST00000280333.6	+	45	4613	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1502	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCTGACGAACGACAAGATCAA	0.587																																						ENST00000280333.6	1.000000	7.700000e-01	1.000000	0.910000	0.990000	0.968262	0.990000	1.000000																										0				72						c.(4504-4506)Gac>Aac		dedicator of cytokinesis 1		G	ASN/ASP	1,4397	2.1+/-5.4	0,1,2198	62.0	74.0	70.0		4459	4.8	1.0	10		70	0,8600		0,0,4300	no	missense	DOCK1	NM_001380.3	23	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1487/1851	129216680	1,12997	2199	4300	6499	SO:0001583	missense	1793	2	121402	33				g.chr10:129216680G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4504G>A	chr10.hg19:g.129216680G>A	ENSP00000280333:p.Asp1502Asn	0						p.D1502N	NM_001380.3	NP_001371.1	1	2	3	2.070880	Q14185	DOCK1_HUMAN		45	4613	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	1	1	hg19	c.4504G>A		1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999692	0.74818	2.27E-4	0.0	ENSG00000150760	ENST00000280333	T	0.16897	2.31	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.060595	0.64402	D	0.000002	T	0.15782	0.0380	N	0.14661	0.345	0.80722	D	1	B;P;P	0.48834	0.36;0.567;0.916	B;B;P	0.46320	0.22;0.09;0.512	T	0.04811	-1.0925	10	0.51188	T	0.08	.	18.0621	0.89380	0.0:0.0:1.0:0.0	.	1502;1568;1502	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	N	1502	ENSP00000280333:D1502N	ENSP00000280333:D1502N	D	+	1	0	0	DOCK1	129106670	129106670	1.000000	0.71417	0.982000	0.44146	0.873000	0.50193	9.595000	0.98260	2.492000	0.84095	0.555000	0.69702	GAC	0.384676		TCGA-FB-AAQ3-01A-11D-A40W-08	0.587	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1		2	2	2	0		0	0	45		45	45	1	1.890000	-3.564564	1	0.380000	NM_001380			34	34		135	134	1		1	0		0	0	45	0		1.000000	7.284487e-01	0	1	0	11	0	34	135
OR52R1	119695	broad.mit.edu	37	11	4824947	4824947	+	Missense_Mutation	SNP	C	C	T	rs200440576		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:4824947C>T	ENST00000356069.2	-	1	663	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.V301M	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAATCATCACGTATGACATA	0.473																																						ENST00000356069.2	0.250000	4.000000e-02	0.180000	0.070000	0.110000	0.129861	0.110000	0.110000																										0				29						c.(664-666)Gtg>Atg		olfactory receptor, family 52, subfamily R, member 1		C	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	91.0	77.0	82.0		664	-1.2	0.8	11		82	1,8595	1.2+/-3.3	0,1,4297	yes	missense	OR52R1	NM_001005177.3	21	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	benign	222/316	4824947	2,12996	2201	4298	6499	SO:0001583	missense	119695	15	121412	42				g.chr11:4824947C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.664G>A	chr11.hg19:g.4824947C>T	ENSP00000348368:p.Val222Met	0					MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.V301M|MMP26_ENST00000380390.1_Intron	p.V222M	NM_001005177.3	NP_001005177.3	1	2	3	2.049603	Q8NGF1	O52R1_HUMAN		1	663	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	0	1	hg19	c.664G>A	CCDS31360.2	0	.	.	.	.	.	.	.	.	.	.	C	5.145	0.212274	0.09757	2.27E-4	1.16E-4	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00265	8.39;8.39	5.57	-1.2	0.09554	5.57	-1.2	0.09554	GPCR, rhodopsin-like superfamily (1);	0.599214	0.14194	N	0.335121	T	0.00210	0.0006	L	0.54908	1.71	0.09310	N	1	B	0.33919	0.432	B	0.36134	0.218	T	0.26292	-1.0107	10	0.54805	T	0.06	.	11.3854	0.49782	0.0:0.482:0.0:0.518	.	222	Q8NGF1	O52R1_HUMAN	M	222;301	ENSP00000348368:V222M;ENSP00000369742:V301M	ENSP00000348368:V222M	V	-	1	0	0	OR52R1	4781523	4781523	0.000000	0.05858	0.813000	0.32504	0.024000	0.10985	-2.137000	0.01304	-0.109000	0.12044	-1.314000	0.01303	GTG	0.381176		TCGA-FB-AAQ3-01A-11D-A40W-08	0.473	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	0	0	1		2	2	2	0		0	0	40		40	39	1	1.890000	-6.454115	1	0.380000	NM_001005177			5	5		235	233	0		1			0	0	40	0		0.936814	0	0	0	0	0	0	5	235
OR5P2	120065	broad.mit.edu	37	11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	rs569926953|rs147652902	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493																																						ENST00000329434.2	1.000000	8.300000e-01	1.000000	0.910000	0.990000	0.969670	0.990000	1.000000																										1	Substitution - Missense(1)	p.E107K(1)	ovary(1)	22						c.(319-321)Gaa>Aaa		olfactory receptor, family 5, subfamily P, member 2		C	LYS/GLU	2,4206		0,2,2102	97.0	113.0	108.0		319	5.5	0.8	11	dbSNP_134	108	0,8584		0,0,4292	no	missense	OR5P2	NM_153444.1	56	0,2,6394	TT,TC,CC		0.0,0.0475,0.0156	probably-damaging	107/323	7818171	2,12790	2104	4292	6396	SO:0001583	missense	120065	4	120744	38				g.chr11:7818171C>T	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.319G>A	chr11.hg19:g.7818171C>T	ENSP00000331823:p.Glu107Lys	0					RP11-35J10.5_ENST00000527565.1_lincRNA	p.E107K	NM_153444.1	NP_703145.1	1	2	3	2.049603	Q8WZ92	OR5P2_HUMAN		1	349	-			Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	1	1	hg19	c.319G>A	CCDS7782.1	1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724582	0.48833	4.75E-4	0.0	ENSG00000183303	ENST00000329434	T	0.00414	7.52	5.5	5.5	0.81552	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.087192	0.49916	D	0.000131	T	0.01835	0.0058	M	0.92219	3.285	0.36026	D	0.8391	D	0.76494	0.999	D	0.73380	0.98	T	0.33085	-0.9882	10	0.87932	D	0	-34.5014	16.9428	0.86222	0.0:1.0:0.0:0.0	.	107	Q8WZ92	OR5P2_HUMAN	K	107	ENSP00000331823:E107K	ENSP00000331823:E107K	E	-	1	0	0	OR5P2	7774747	7774747	0.025000	0.19082	0.822000	0.32727	0.009000	0.06853	1.607000	0.36836	2.868000	0.98415	0.555000	0.69702	GAA	0.381176		TCGA-FB-AAQ3-01A-11D-A40W-08	0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	1	0	1		2	2	2	0		0	0	119		119	118	1	1.890000	-3.245289	1	0.380000	NM_153444			101	100		427	424	0		1			0	0	119	0		1.000000	0	0	0	0	0	0	101	427
MED13L	23389	broad.mit.edu	37	12	116413394	116413394	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:116413394C>A	ENST00000281928.3	-	24	5720	c.5514G>T	c.(5512-5514)tgG>tgT	p.W1838C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1838						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCCAAAAGCCAGCGCTGGT	0.483																																						ENST00000281928.3	0.860000	4.400000e-01	0.760000	0.530000	0.630000	0.651411	0.630000	0.630000																										0				85						c.(5512-5514)tgG>tgT		mediator complex subunit 13-like							94.0	88.0	90.0					12																	116413394		2203	4300	6503	SO:0001583	missense	23389	0	0					g.chr12:116413394C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5514G>T	chr12.hg19:g.116413394C>A	ENSP00000281928:p.Trp1838Cys	0						p.W1838C	NM_015335.4	NP_056150.1	0	0	0	1.994408	Q71F56	MD13L_HUMAN		24	5720	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	1	1	hg19	c.5514G>T	CCDS9177.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.652595|4.652595	0.88056|0.88056	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000552447|ENST00000281928	.|D	.|0.98400	.|-4.91	5.86|5.86	5.86|5.86	0.93980|0.93980	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99093|0.99093	0.9688|0.9688	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.99585|0.99585	1.0974|1.0974	5|10	.|0.87932	.|D	.|0	-8.283|-8.283	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1838	.|Q71F56	.|MD13L_HUMAN	S|C	31|1838	.|ENSP00000281928:W1838C	.|ENSP00000281928:W1838C	A|W	-|-	1|3	0|0	0|0	MED13L|MED13L	114897777|114897777	114897777|114897777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.445000|7.445000	0.80570|0.80570	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCT|TGG	0.363057		TCGA-FB-AAQ3-01A-11D-A40W-08	0.483	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3	1	0	1		2	2	2	0		0	0	45		45	45	1	1.890000	-14.059710	1	0.380000				30	30		210	205	1		1	0		0	0	45	0		1.000000	4.604415e-02	0	0	0	3	0	30	210
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_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	0.950000	4.900000e-01	0.840000	0.590000	0.710000	0.721819	0.710000	0.710000	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	1.994408	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	0	.	.	.	.	.	.	.	.	.	.	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	0.363057		TCGA-FB-AAQ3-01A-11D-A40W-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	0		0	0	83		83	81	1	1.890000	-15.365490	1	0.380000	NM_033360			30	30		186	185	1		1	0	1	0	0	83	434		1.000000	0	1	0	83	1	490	30	186
WNT10B	7480	broad.mit.edu	37	12	49360058	49360058	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:49360058C>T	ENST00000301061.4	-	5	1338	c.990G>A	c.(988-990)agG>agA	p.R330R	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	330					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AGGCCCGGCCCCTTGTCCCTG	0.642																																						ENST00000301061.4	1.000000	7.200000e-01	1.000000	0.840000	0.980000	0.941949	0.980000	1.000000																										0				23						c.(988-990)agG>agA		wingless-type MMTV integration site family, member 10B							31.0	33.0	32.0					12																	49360058		2203	4300	6503	SO:0001819	synonymous_variant	7480	0	0					g.chr12:49360058C>T	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.990G>A	chr12.hg19:g.49360058C>T		0					WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	p.R330R	NM_003394.3	NP_003385.2	0	0	0	1.994408	O00744	WN10B_HUMAN		5	1338	-			B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Silent	SNP	ENST00000301061.4	1	1	hg19	c.990G>A	CCDS8775.1	1																																																																																								0.363057		TCGA-FB-AAQ3-01A-11D-A40W-08	0.642	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	1	0	1		2	2	2	0		0	0	49		49	49	1	1.890000	-20.000000	1	0.380000	NM_003394			37	37		154	147	1		1			0	0	49	0		1.000000	0	0	0	0	0	0	37	154
PPFIA2	8499	broad.mit.edu	37	12	81769706	81769706	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:81769706C>G	ENST00000549396.1	-	10	1160	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	PPFIA2_ENST00000333447.7_Missense_Mutation_p.E316Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E334Q|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E316Q|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E235Q|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E334Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E181Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E260Q	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	334	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCATATCTTCCTTTTGTGCC	0.308																																						ENST00000549396.1	0.570000	2.500000e-01	0.490000	0.310000	0.390000	0.407228	0.390000	0.390000																										0				85						c.(1000-1002)Gaa>Caa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							174.0	159.0	163.0					12																	81769706		1855	4130	5985	SO:0001583	missense	8499	0	0					g.chr12:81769706C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1000G>C	chr12.hg19:g.81769706C>G	ENSP00000450337:p.Glu334Gln	0					PPFIA2_ENST00000550359.2_Missense_Mutation_p.E181Q|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E235Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E334Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E316Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E316Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E260Q	p.E334Q	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	0	0	0	1.994408	O75334	LIPA2_HUMAN		10	1160	-			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	1	1	hg19	c.1000G>C	CCDS55857.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.853780|4.853780	0.91355|0.91355	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|.	0.78246|.	1.25;1.25;1.25;-1.16;1.25;1.25;1.25|.	5.15|5.15	5.15|5.15	0.70609|0.70609	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76730|0.76730	0.4028|0.4028	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	D;P|.	0.61080|.	0.989;0.9|.	D;B|.	0.72982|.	0.979;0.38|.	T|T	0.76369|0.76369	-0.2984|-0.2984	10|5	0.52906|.	T|.	0.07|.	-17.607|-17.607	19.0352|19.0352	0.92974|0.92974	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	234;334|.	B7Z4H8;O75334|.	.;LIPA2_HUMAN|.	Q|S	334;316;260;345;316;334;235;334|151	ENSP00000450337:E334Q;ENSP00000450298:E316Q;ENSP00000385093:E260Q;ENSP00000327416:E316Q;ENSP00000449338:E334Q;ENSP00000388373:E235Q;ENSP00000447868:E334Q|.	ENSP00000327416:E316Q|.	E|R	-|-	1|3	0|2	0|2	PPFIA2|PPFIA2	80293837|80293837	80293837|80293837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.765000|7.765000	0.85310|0.85310	2.567000|2.567000	0.86603|0.86603	0.650000|0.650000	0.86243|0.86243	GAA|AGG	0.363057		TCGA-FB-AAQ3-01A-11D-A40W-08	0.308	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1	1	0	1		2	2	2	0		0	0	49		49	49	1	1.890000	-3.142700	1	0.380000				21	21		252	248	0		1			0	0	49	0		0.999998	0	0	0	0	0	0	21	252
PLXNC1	10154	broad.mit.edu	37	12	94658986	94658986	+	Silent	SNP	G	G	T	rs545463488		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:94658986G>T	ENST00000258526.4	+	21	3831	c.3582G>T	c.(3580-3582)ccG>ccT	p.P1194P	PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Silent_p.P241P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1194					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCAGGTTCCGGAATTCAGTA	0.453																																						ENST00000258526.4	0.940000	6.800000e-01	0.880000	0.740000	0.810000	0.818855	0.810000	0.820000																										0				64						c.(3580-3582)ccG>ccT		plexin C1							143.0	153.0	149.0					12																	94658986		2203	4300	6503	SO:0001819	synonymous_variant	10154	0	0					g.chr12:94658986G>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3582G>T	chr12.hg19:g.94658986G>T		0					PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Silent_p.P241P	p.P1194P	NM_005761.2	NP_005752.1	0	0	0	1.994408	O60486	PLXC1_HUMAN		21	3831	+			Q59H25	Silent	SNP	ENST00000258526.4	1	1	hg19	c.3582G>T	CCDS9049.1	0																																																																																								0.363057		TCGA-FB-AAQ3-01A-11D-A40W-08	0.453	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2	1	0	1		2	2	2	0		0	0	186		186	184	1	1.890000	-2.921532	1	0.380000				131	126		691	668	1		1	0		0	0	186	0		1.000000	2.570041e-02	0	0	0	2	0	131	691
FZD10	11211	broad.mit.edu	37	12	130648664	130648664	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:130648664G>A	ENST00000229030.4	+	1	1661	c.1177G>A	c.(1177-1179)Gcg>Acg	p.A393T	FZD10_ENST00000539839.1_Missense_Mutation_p.R360H|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	393					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A393S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGACGTCAACGCGCTCACCGG	0.657																																						ENST00000229030.4	1.000000	6.300000e-01	0.930000	0.720000	0.820000	0.830393	0.820000	1.000000																										1	Substitution - Missense(1)	p.A393S(1)	lung(1)	35						c.(1177-1179)Gcg>Acg		frizzled class receptor 10							119.0	108.0	112.0					12																	130648664		2203	4300	6503	SO:0001583	missense	11211	2	121410	35				g.chr12:130648664G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1177G>A	chr12.hg19:g.130648664G>A	ENSP00000229030:p.Ala393Thr	0					FZD10_ENST00000539839.1_Missense_Mutation_p.R360H|FZD10-AS1_ENST00000505807.2_RNA	p.A393T			0	0	0	1.994408	Q9ULW2	FZD10_HUMAN		1	1661	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Missense_Mutation	SNP	ENST00000229030.4	1	1	hg19	c.1177G>A	CCDS9267.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.29|15.29	2.790730|2.790730	0.50102|0.50102	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	D|.	0.82526|.	-1.62|.	5.21|5.21	5.21|5.21	0.72293|0.72293	5.21|5.21	5.21|5.21	0.72293|0.72293	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.82549|0.82549	0.5061|0.5061	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	D|D	0.85526|0.85526	0.1206|0.1206	10|6	0.48119|0.87932	T|D	0.1|0	.|.	18.7539|18.7539	0.91825|0.91825	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	393|.	Q9ULW2|.	FZD10_HUMAN|.	T|H	393|360	ENSP00000229030:A393T|.	ENSP00000229030:A393T|ENSP00000438460:R360H	A|R	+|+	1|2	0|0	0|0	FZD10|FZD10	129214617|129214617	129214617|129214617	1.000000|1.000000	0.71417|0.71417	0.223000|0.223000	0.23860|0.23860	0.980000|0.980000	0.70556|0.70556	9.643000|9.643000	0.98464|0.98464	2.432000|2.432000	0.82394|0.82394	0.561000|0.561000	0.74099|0.74099	GCG|CGC	0.363057		TCGA-FB-AAQ3-01A-11D-A40W-08	0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	53		53	51	1	1.890000	-20.000000	1	0.380000				52	52		270	261	1		1	0		0	0	53	0		1.000000	2.717949e-02	0	0	0	2	0	52	270
CIDEB	27141	broad.mit.edu	37	14	24779887	24779887	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:24779887G>A	ENST00000336557.5	-	0	714				LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000555817.1_5'Flank|LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R6H|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R6H|CIDEB_ENST00000554411.1_5'Flank|LTB4R2_ENST00000528054.1_Missense_Mutation_p.R37H|CIDEB_ENST00000258807.5_De_novo_Start_OutOfFrame			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b						apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GTCTGCTACCGTCCCCCAGGG	0.662																																						ENST00000336557.5	0.350000	9.000000e-02	0.270000	0.140000	0.190000	0.209551	0.190000	0.190000																										0				7								cell death-inducing DFFA-like effector b							58.0	52.0	54.0					14																	24779887		2203	4300	6503			27141	0	0					g.chr14:24779887G>A	AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.-589C>T	chr14.hg19:g.24779887G>A		0					CIDEB_ENST00000555817.1_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R6H|LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000554411.1_5'Flank|LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000528054.1_Missense_Mutation_p.R37H|CIDEB_ENST00000258807.5_De_novo_Start_OutOfFrame|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R6H				1	2	3	2.051019	Q9UHD4	CIDEB_HUMAN		0	714	-			D3DS73|Q546V8|Q9NNW9	Translation_Start_Site	SNP	ENST00000336557.5	0	1	hg19		CCDS32056.1	0	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033641	0.54896	.	.	ENSG00000213906	ENST00000527924;ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T;T	0.78246	-1.16;1.2;-0.33;-0.33;-0.33	5.26	3.08	0.35506	5.26	3.08	0.35506	.	1.634670	0.03830	U	0.268870	T	0.65533	0.2700	N	0.19112	0.55	0.25938	N	0.982902	B	0.28208	0.203	B	0.17098	0.017	T	0.56092	-0.8036	10	0.48119	T	0.1	.	8.2552	0.31751	0.2082:0.0:0.7918:0.0	.	37	Q9NPC1	LT4R2_HUMAN	H	6;37;6;6;6	ENSP00000436668:R6H;ENSP00000432146:R37H;ENSP00000433290:R6H;ENSP00000445772:R6H;ENSP00000434760:R6H	ENSP00000337731:R37H	R	+	2	0	0	LTB4R2	23849727	23849727	0.000000	0.05858	0.423000	0.26634	0.986000	0.74619	-0.139000	0.10358	1.232000	0.43678	0.561000	0.74099	CGT	0.381176		TCGA-FB-AAQ3-01A-11D-A40W-08	0.662	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1	0	0	1		2	2	2	0		0	0	47		47	47	1	1.890000	-3.182267	1	0.380000				9	9		239	237	0		1	0		0	0	47	0		0.994252	1.752988e-03	0	0	0	2	0	9	239
EML1	2009	broad.mit.edu	37	14	100380996	100380996	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:100380996G>A	ENST00000262233.6	+	15	1853	c.1714G>A	c.(1714-1716)Gct>Act	p.A572T	EML1_ENST00000334192.4_Missense_Mutation_p.A591T|EML1_ENST00000327921.9_Missense_Mutation_p.A560T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	572	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCTCTGGGACGCTGTGGGTCA	0.453																																						ENST00000262233.6	1.000000	7.300000e-01	1.000000	0.890000	0.990000	0.961380	0.990000	1.000000																										0				42						c.(1714-1716)Gct>Act		echinoderm microtubule associated protein like 1							70.0	61.0	64.0					14																	100380996		2203	4300	6503	SO:0001583	missense	2009	0	0					g.chr14:100380996G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1714G>A	chr14.hg19:g.100380996G>A	ENSP00000262233:p.Ala572Thr	0					EML1_ENST00000327921.9_Missense_Mutation_p.A560T|EML1_ENST00000334192.4_Missense_Mutation_p.A591T	p.A572T	NM_004434.2	NP_004425.2	1	2	3	2.051019	O00423	EMAL1_HUMAN		15	1853	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	1	1	hg19	c.1714G>A	CCDS32155.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334759	0.81801	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.39229	1.09;1.09;1.09	5.14	5.14	0.70334	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.050391	0.85682	D	0.000000	T	0.39200	0.1069	N	0.15975	0.35	0.58432	D	0.999998	D;B;D	0.61697	0.961;0.089;0.99	B;B;P	0.50970	0.371;0.006;0.655	T	0.32719	-0.9896	10	0.41790	T	0.15	-19.4889	18.6177	0.91308	0.0:0.0:1.0:0.0	.	560;572;591	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	T	560;572;591;591	ENSP00000327384:A560T;ENSP00000262233:A572T;ENSP00000334314:A591T	ENSP00000262233:A572T	A	+	1	0	0	EML1	99450749	99450749	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.708000	0.61859	2.396000	0.81511	0.655000	0.94253	GCT	0.381176		TCGA-FB-AAQ3-01A-11D-A40W-08	0.453	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	1	0	1		2	2	2	0		0	0	36		36	36	1	1.890000	-20.000000	1	0.380000	NM_001008707			26	25		102	100	1		1	0		0	0	36	0		1.000000	1.949304e-01	0	0	0	4	0	26	102
MKRN3	7681	broad.mit.edu	37	15	23811290	23811290	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:23811290C>A	ENST00000314520.3	+	1	837	c.361C>A	c.(361-363)Ctt>Att	p.L121I	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	121					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTCGCACGACCTTTCTGGTCG	0.602																																						ENST00000314520.3	0.250000	5.000000e-02	0.190000	0.080000	0.130000	0.143258	0.130000	0.120000																										0				61						c.(361-363)Ctt>Att		makorin ring finger protein 3							56.0	58.0	57.0					15																	23811290		2203	4300	6503	SO:0001583	missense	7681	0	0					g.chr15:23811290C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.361C>A	chr15.hg19:g.23811290C>A	ENSP00000313881:p.Leu121Ile	0					RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.L121I	NM_005664.3	NP_005655.1	0	0	0	2.022469	Q13064	MKRN3_HUMAN		1	837	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		Missense_Mutation	SNP	ENST00000314520.3	0	1	hg19	c.361C>A	CCDS10013.1	0	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208879	0.79240	.	.	ENSG00000179455	ENST00000314520	T	0.35236	1.32	3.94	2.05	0.26809	3.94	2.05	0.26809	Zinc finger, CCCH-type (2);	0.280449	0.29451	N	0.012115	T	0.26484	0.0647	L	0.47016	1.485	0.47245	D	0.999361	B	0.26935	0.164	B	0.23852	0.049	T	0.09400	-1.0676	10	0.59425	D	0.04	.	4.7645	0.13125	0.2134:0.6766:0.0:0.1099	.	121	Q13064	MKRN3_HUMAN	I	121	ENSP00000313881:L121I	ENSP00000313881:L121I	L	+	1	0	0	MKRN3	21362383	21362383	0.221000	0.23642	0.010000	0.14722	0.327000	0.28475	1.320000	0.33666	0.631000	0.30412	0.563000	0.77884	CTT	0.375252		TCGA-FB-AAQ3-01A-11D-A40W-08	0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	0	0	1		2	2	2	0		0	0	65		65	63	1	1.890000	-3.664649	1	0.380000	NM_005664			7	7		281	275	0		1			0	0	65	0		0.979459	0	0	0	0	0	0	7	281
APBA2	321	broad.mit.edu	37	15	29347038	29347038	+	Splice_Site	SNP	G	G	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:29347038G>T	ENST00000558402.1	+	5	1550	c.951G>T	c.(949-951)caG>caT	p.Q317H	APBA2_ENST00000558259.1_Splice_Site_p.Q317H|APBA2_ENST00000411764.1_Splice_Site_p.Q317H|APBA2_ENST00000561069.1_Splice_Site_p.Q317H|APBA2_ENST00000558330.1_Splice_Site_p.Q317H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	317					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCACGAGCAGGTAGGACCCT	0.657																																						ENST00000558402.1	1.000000	3.500000e-01	0.880000	0.490000	0.670000	0.687263	0.670000	1.000000																										0				59						c.(949-951)caG>caT		amyloid beta (A4) precursor protein-binding, family A, member 2							12.0	15.0	14.0					15																	29347038		2168	4226	6394	SO:0001630	splice_region_variant	321	0	0					g.chr15:29347038G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.951+1G>T	chr15.hg19:g.29347038G>T		0					APBA2_ENST00000411764.1_Splice_Site_p.Q317H|APBA2_ENST00000558259.1_Splice_Site_p.Q317H|APBA2_ENST00000558330.1_Splice_Site_p.Q317H|APBA2_ENST00000561069.1_Splice_Site_p.Q317H	p.Q317H			0	0	0	2.022469	Q99767	APBA2_HUMAN		5	1550	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	E9PGI4|O60571|Q5XKC0	Splice_Site	SNP	ENST00000558402.1	0	0	hg19	c.951G>T	CCDS10022.1	0	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044513	0.36085	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.31247	1.5	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.130714	0.51477	D	0.000095	T	0.37046	0.0989	M	0.65975	2.015	0.58432	D	0.999999	P;P;P	0.43662	0.814;0.668;0.814	B;B;B	0.40477	0.33;0.186;0.33	T	0.29731	-1.0002	10	0.46703	T	0.11	.	17.8166	0.88637	0.0:0.0:1.0:0.0	.	317;317;317	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	H	317	ENSP00000409312:Q317H	ENSP00000219865:Q317H	Q	+	3	2	2	APBA2	27134330	27134330	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	7.205000	0.77881	2.422000	0.82143	0.650000	0.86243	CAG	0.375252		TCGA-FB-AAQ3-01A-11D-A40W-08	0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	1	0	1		2	2	2	0		0	0	15		15	15	1	1.890000	-17.691170	1	0.380000	NM_005503	Missense_Mutation		10	9		69	68	1		1	0		0	0	15	0		0.997151	2.985016e-01	0	0	0	8	0	10	69
ZNF500	26048	broad.mit.edu	37	16	4815918	4815918	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:4815918T>A	ENST00000219478.6	-	2	361	c.62A>T	c.(61-63)gAg>gTg	p.E21V	ZNF500_ENST00000545009.1_Missense_Mutation_p.E21V			O60304	ZN500_HUMAN	zinc finger protein 500	21					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)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AATCAGGATCTCTTCCTGTTC	0.602																																						ENST00000219478.6	1.000000	8.000000e-02	0.220000	0.110000	0.160000	0.192896	0.160000	0.160000																										0				21						c.(61-63)gAg>gTg		zinc finger protein 500							65.0	58.0	60.0					16																	4815918		2197	4300	6497	SO:0001583	missense	26048	0	0					g.chr16:4815918T>A	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.62A>T	chr16.hg19:g.4815918T>A	ENSP00000219478:p.Glu21Val	0					ZNF500_ENST00000545009.1_Missense_Mutation_p.E21V	p.E21V			1	2	3	2.070350	O60304	ZN500_HUMAN		2	361	-			A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	1	1	hg19	c.62A>T	CCDS32383.1	0	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357740	0.41801	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07688	3.25;3.17	4.32	3.22	0.36961	4.32	3.22	0.36961	.	.	.	.	.	T	0.15176	0.0366	M	0.80982	2.52	0.24263	N	0.995279	P;P	0.52316	0.952;0.952	P;P	0.45998	0.5;0.5	T	0.15435	-1.0437	9	0.72032	D	0.01	.	6.5932	0.22658	0.0:0.1129:0.0:0.8871	.	21;21	B4DNN9;O60304	.;ZN500_HUMAN	V	21	ENSP00000445714:E21V;ENSP00000219478:E21V	ENSP00000219478:E21V	E	-	2	0	0	ZNF500	4755919	4755919	0.130000	0.22417	0.709000	0.30452	0.828000	0.46876	0.360000	0.20250	0.540000	0.28808	0.533000	0.62120	GAG	0.384676		TCGA-FB-AAQ3-01A-11D-A40W-08	0.602	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	0	0	1		2	2	2	0		0	0	88		88	87	1	1.890000	-11.399370	1	0.380000	XM_085507			11	10		362	357	0		1	1		0	0	88	0		0.998212	3.220021e-03	0	2	0	1	0	11	362
SYNRG	11276	broad.mit.edu	37	17	35960421	35960421	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:35960421C>G	ENST00000339208.6	-	2	247	c.107G>C	c.(106-108)aGa>aCa	p.R36T	SYNRG_ENST00000394378.2_Missense_Mutation_p.R36T|SYNRG_ENST00000345615.4_Missense_Mutation_p.R36T|SYNRG_ENST00000591288.1_Missense_Mutation_p.R36T|SYNRG_ENST00000502449.2_Missense_Mutation_p.R36T|SYNRG_ENST00000585472.1_Missense_Mutation_p.R36T|SYNRG_ENST00000346661.4_Missense_Mutation_p.R36T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	36					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAGGGGGTCTTATCCCACC	0.308																																						ENST00000339208.6	0.760000	3.100000e-01	0.640000	0.400000	0.510000	0.529015	0.510000	0.510000																										0				36						c.(106-108)aGa>aCa		synergin, gamma							49.0	49.0	49.0					17																	35960421		2203	4300	6503	SO:0001583	missense	11276	0	0					g.chr17:35960421C>G	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.107G>C	chr17.hg19:g.35960421C>G	ENSP00000343610:p.Arg36Thr	1					SYNRG_ENST00000346661.4_Missense_Mutation_p.R36T|SYNRG_ENST00000502449.2_Missense_Mutation_p.R36T|SYNRG_ENST00000585472.1_Missense_Mutation_p.R36T|SYNRG_ENST00000591288.1_Missense_Mutation_p.R36T|SYNRG_ENST00000394378.2_Missense_Mutation_p.R36T|SYNRG_ENST00000345615.4_Missense_Mutation_p.R36T	p.R36T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	1	2	3	2.446222	Q9UMZ2	SYNRG_HUMAN		2	247	-			A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	1	1	hg19	c.107G>C	CCDS11321.1	0	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098767	0.56183	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.46451	1.46;1.46;0.87;0.87;0.87	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.171371	0.51477	D	0.000087	T	0.36635	0.0974	L	0.44542	1.39	0.38571	D	0.949948	P;B;B;P;B;B;P	0.41265	0.578;0.435;0.435;0.578;0.435;0.435;0.744	B;B;B;B;B;B;B	0.38842	0.283;0.157;0.157;0.157;0.157;0.283;0.21	T	0.23511	-1.0186	10	0.31617	T	0.26	-22.8269	15.0288	0.71691	0.0:1.0:0.0:0.0	.	36;36;36;36;36;36;36	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	T	36	ENSP00000005279:R36T;ENSP00000343610:R36T;ENSP00000315722:R36T;ENSP00000424893:R36T;ENSP00000377903:R36T	ENSP00000343610:R36T	R	-	2	0	0	SYNRG	33034534	33034534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.329000	0.65892	2.693000	0.91896	0.650000	0.86243	AGA	0.478992		TCGA-FB-AAQ3-01A-11D-A40W-08	0.308	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	1	0	0		2	2	2	0		0	0	41		41	41	1	1.890000	-19.998520	1	0.380000	NM_007247			17	16		193	192	0		1			0	0	41	0		0.999969	0	0	0	0	0	0	17	193
NWD1	284434	broad.mit.edu	37	19	16884049	16884049	+	Silent	SNP	C	C	T	rs144961672		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:16884049C>T	ENST00000552788.1	+	9	2523	c.2523C>T	c.(2521-2523)tgC>tgT	p.C841C	NWD1_ENST00000549814.1_Silent_p.C841C|NWD1_ENST00000523826.1_Silent_p.C635C|NWD1_ENST00000339803.6_Silent_p.C706C|NWD1_ENST00000379808.3_Silent_p.C841C|NWD1_ENST00000524140.2_Silent_p.C841C			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	841							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGTTGTGCGCACACCCTG	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		17353	0.0		0.001	False		,,,				2504	0.0					ENST00000552788.1	0.260000	4.000000e-02	0.180000	0.070000	0.120000	0.139362	0.120000	0.120000																										0				67						c.(2521-2523)tgC>tgT		NACHT and WD repeat domain containing 1				0,4406		0,0,2203	60.0	57.0	58.0		2523	-1.3	0.0	19	dbSNP_134	58	1,8597		0,1,4298	no	coding-synonymous	NWD1	NM_001007525.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		841/1433	16884049	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	284434	7	121406	40				g.chr19:16884049C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2523C>T	chr19.hg19:g.16884049C>T		0					NWD1_ENST00000379808.3_Silent_p.C841C|NWD1_ENST00000524140.2_Silent_p.C841C|NWD1_ENST00000339803.6_Silent_p.C706C|NWD1_ENST00000523826.1_Silent_p.C635C|NWD1_ENST00000549814.1_Silent_p.C841C	p.C841C			1	2	3	2.057370	Q149M9	NWD1_HUMAN		9	2523	+			C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	0	1	hg19	c.2523C>T		0																																																																																								0.382347		TCGA-FB-AAQ3-01A-11D-A40W-08	0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	0	0	1		2	2	2	0		0	0	51		51	51	1	1.890000	-6.545265	1	0.380000	NM_001007525			6	6		273	270	0		1			0	0	51	0		0.963849	0	0	0	0	0	0	6	273
PDE4C	5143	broad.mit.edu	37	19	18331319	18331319	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:18331319G>A	ENST00000355502.3	-	10	1473	c.602C>T	c.(601-603)aCg>aTg	p.T201M	PDE4C_ENST00000447275.3_Missense_Mutation_p.T95M|PDE4C_ENST00000539010.1_De_novo_Start_InFrame|PDE4C_ENST00000594617.3_Missense_Mutation_p.T201M|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000262805.12_Missense_Mutation_p.T169M|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Missense_Mutation_p.T201M			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	201					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTTCTGCCCCGTGTCCTCTGG	0.657																																						ENST00000355502.3	1.000000	6.400000e-01	1.000000	0.780000	0.940000	0.908708	0.940000	1.000000																										0				33						c.(601-603)aCg>aTg		phosphodiesterase 4C, cAMP-specific	Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)						66.0	48.0	54.0					19																	18331319		2203	4300	6503	SO:0001583	missense	5143	0	0					g.chr19:18331319G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.602C>T	chr19.hg19:g.18331319G>A	ENSP00000347689:p.Thr201Met	0					PDE4C_ENST00000262805.12_Missense_Mutation_p.T169M|PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000447275.3_Missense_Mutation_p.T95M|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.T201M|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594465.3_Missense_Mutation_p.T201M|PDE4C_ENST00000539010.1_De_novo_Start_InFrame	p.T201M			1	2	3	2.057370	Q08493	PDE4C_HUMAN		10	1473	-			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	1	1	hg19	c.602C>T	CCDS12373.1	1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513874	0.44763	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.70986	-0.53;-0.52;-0.51	4.2	3.13	0.36017	4.2	3.13	0.36017	.	0.547115	0.18791	N	0.131041	T	0.72622	0.3483	M	0.62723	1.935	0.80722	D	1	D;B	0.57571	0.98;0.451	P;B	0.50192	0.634;0.103	T	0.73193	-0.4060	10	0.54805	T	0.06	.	11.2003	0.48736	0.0:0.0:0.8144:0.1855	.	201;169	Q08493;Q08493-3	PDE4C_HUMAN;.	M	280;201;189;169;95;310	ENSP00000347689:T201M;ENSP00000262805:T169M;ENSP00000402091:T95M	ENSP00000262805:T169M	T	-	2	0	0	PDE4C	18192319	18192319	0.897000	0.30589	0.985000	0.45067	0.925000	0.55904	4.944000	0.63561	0.870000	0.35726	-0.513000	0.04457	ACG	0.382347		TCGA-FB-AAQ3-01A-11D-A40W-08	0.657	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1	1	0	1		2	2	2	0		0	0	26		26	26	1	1.890000	-20.000000	1	0.380000				25	25		115	110	1		1			0	0	26	0		1.000000	0	0	0	0	0	0	25	115
EEF2	1938	broad.mit.edu	37	19	3976682	3976682	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:3976682T>A	ENST00000309311.6	-	15	2535	c.2447A>T	c.(2446-2448)cAc>cTc	p.H816L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	816					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)		GATCTGCCAGTGGTCAAACAC	0.657																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6	1.000000	5.200000e-01	1.000000	0.710000	0.940000	0.882859	0.940000	1.000000																										0				21						c.(2446-2448)cAc>cTc		eukaryotic translation elongation factor 2							32.0	29.0	30.0					19																	3976682		2200	4299	6499	SO:0001583	missense	1938	0	0					g.chr19:3976682T>A	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.2447A>T	chr19.hg19:g.3976682T>A	ENSP00000307940:p.His816Leu	0						p.H816L	NM_001961.3	NP_001952.1	1	2	3	2.057370	P13639	EF2_HUMAN		15	2535	-		Hepatocellular(1079;0.137)	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	0	1	hg19	c.2447A>T	CCDS12117.1	1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.780856	0.90195	.	.	ENSG00000167658	ENST00000309311	T	0.64991	-0.13	5.5	4.48	0.54585	5.5	4.48	0.54585	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88343	0.6411	H	0.99890	4.9	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.90917	0.4780	10	0.87932	D	0	-51.5156	11.2148	0.48819	0.1372:0.0:0.0:0.8628	.	816	P13639	EF2_HUMAN	L	816	ENSP00000307940:H816L	ENSP00000307940:H816L	H	-	2	0	0	EEF2	3927682	3927682	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.003000	0.70701	0.899000	0.36444	0.529000	0.55759	CAC	0.382347		TCGA-FB-AAQ3-01A-11D-A40W-08	0.657	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	1	0	1		2	2	2	0		0	0	13		13	13	1	1.890000	-20.000000	1	0.380000	NM_001961			11	11		51	51	1		1	1	1	0	0	13	349		0.998851	1	1	224	99	1096	364	11	51
CILP2	148113	broad.mit.edu	37	19	19656676	19656676	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:19656676C>T	ENST00000291495.5	+	8	3407	c.3322C>T	c.(3322-3324)Ccg>Tcg	p.P1108S	CILP2_ENST00000586018.1_Missense_Mutation_p.P1114S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1108						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGGAGCCACCGGCCGGACG	0.657																																						ENST00000291495.5	1.000000	4.200000e-01	0.980000	0.570000	0.750000	0.761654	0.750000	1.000000																										0				32						c.(3322-3324)Ccg>Tcg		cartilage intermediate layer protein 2							11.0	11.0	11.0					19																	19656676		2094	4117	6211	SO:0001583	missense	148113	0	0					g.chr19:19656676C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.3322C>T	chr19.hg19:g.19656676C>T	ENSP00000291495:p.Pro1108Ser	0					CILP2_ENST00000586018.1_Missense_Mutation_p.P1114S	p.P1108S	NM_153221.2	NP_694953.2	1	2	3	2.057370	Q8IUL8	CILP2_HUMAN		8	3407	+			Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	0	1	hg19	c.3322C>T	CCDS12405.1	0	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.516760	0.00975	.	.	ENSG00000160161	ENST00000291495	T	0.49139	0.79	5.57	0.901	0.19284	5.57	0.901	0.19284	.	0.431826	0.25919	N	0.027455	T	0.29588	0.0738	L	0.38531	1.155	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.15809	-1.0424	10	0.17832	T	0.49	-2.1441	5.6241	0.17473	0.1343:0.5332:0.2595:0.0731	.	1108;1108	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	1108	ENSP00000291495:P1108S	ENSP00000291495:P1108S	P	+	1	0	0	CILP2	19517676	19517676	0.000000	0.05858	0.004000	0.12327	0.089000	0.18198	-0.586000	0.05787	0.035000	0.15519	-0.314000	0.08810	CCG	0.382347		TCGA-FB-AAQ3-01A-11D-A40W-08	0.657	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	1	0	1		2	2	2	0		0	0	20		20	19	1	1.890000	-19.955200	1	0.380000	NM_153221			12	11		73	68	0		1	0		0	0	20	0		0.998984	6.330351e-02	0	0	0	3	0	12	73
ZIM2	23619	broad.mit.edu	37	19	57335649	57335649	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:57335649C>A	ENST00000391708.3	-	0	539				PEG3_ENST00000423103.2_Missense_Mutation_p.K125N|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000598410.1_De_novo_Start_OutOfFrame|PEG3_ENST00000326441.9_Missense_Mutation_p.K125N|ZIM2_ENST00000221722.5_De_novo_Start_OutOfFrame|ZIM2_ENST00000599935.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000601070.1_De_novo_Start_OutOfFrame|PEG3_ENST00000593695.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593931.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593711.1_De_novo_Start_OutOfFrame	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGTACATCTCCTTGTAATTCT	0.547																																						ENST00000391708.3	1.000000	8.100000e-01	1.000000	0.910000	0.990000	0.969574	0.990000	1.000000																										0				44								zinc finger, imprinted 2							111.0	97.0	102.0					19																	57335649		2203	4300	6503			23619	0	0					g.chr19:57335649C>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.-4G>T	chr19.hg19:g.57335649C>A		0					PEG3_ENST00000598410.1_De_novo_Start_OutOfFrame|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000423103.2_Missense_Mutation_p.K125N|PEG3_ENST00000326441.9_Missense_Mutation_p.K125N|ZIM2_ENST00000599935.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593931.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593711.1_De_novo_Start_OutOfFrame|PEG3_ENST00000593695.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000601070.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000221722.5_De_novo_Start_OutOfFrame		NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	1	2	3	2.099934	Q9NZV7	ZIM2_HUMAN		0	539	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	Q2M3K1	Translation_Start_Site	SNP	ENST00000391708.3	1	0	hg19		CCDS33123.1	1	.	.	.	.	.	.	.	.	.	.	C	9.895	1.205252	0.22205	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.04317	3.65;3.65	4.18	-3.28	0.05033	4.18	-3.28	0.05033	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.710048	0.12221	N	0.488381	T	0.02012	0.0063	N	0.08118	0	.	.	.	B;B	0.21905	0.032;0.062	B;B	0.23018	0.043;0.043	T	0.42666	-0.9438	9	0.72032	D	0.01	-7.7048	0.944	0.01361	0.1571:0.3297:0.1546:0.3585	.	125;58	Q9GZU2;Q96Q96	PEG3_HUMAN;.	N	125	ENSP00000326581:K125N;ENSP00000403051:K125N	ENSP00000292074:K125N	K	-	3	2	2	ZIM2	62027461	62027461	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-0.287000	0.08388	-0.404000	0.07610	-0.142000	0.14014	AAG	0.389283		TCGA-FB-AAQ3-01A-11D-A40W-08	0.547	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2	1	0	1		2	2	2	0		0	0	85		85	83	1	1.890000	-2.920372	1	0.380000				74	73		315	311	1		1			0	0	85	0		1.000000	0	0	0	0	0	0	74	315
AJAP1	55966	broad.mit.edu	37	1	4832475	4832475	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:4832475C>T	ENST00000378191.4	+	4	1434	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	AJAP1_ENST00000378190.3_Silent_p.N351N	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	351	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGCCTATAACGAGACCCTGC	0.597																																						ENST00000378191.4	0.780000	3.300000e-01	0.660000	0.430000	0.530000	0.550426	0.530000	0.530000																										0				24						c.(1051-1053)aaC>aaT		adherens junctions associated protein 1							78.0	67.0	71.0					1																	4832475		2203	4300	6503	SO:0001819	synonymous_variant	55966	6	121412	39				g.chr1:4832475C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1053C>T	chr1.hg19:g.4832475C>T		0					AJAP1_ENST00000378190.3_Silent_p.N351N	p.N351N	NM_018836.3	NP_061324.1	0	1	1	1.918407	Q9UKB5	AJAP1_HUMAN		4	1434	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	Q9Y229	Silent	SNP	ENST00000378191.4	1	1	hg19	c.1053C>T	CCDS54.1	0																																																																																								0.330381		TCGA-FB-AAQ3-01A-11D-A40W-08	0.597	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	1	0	1		2	2	2	0		0	0	45		45	45	1	1.890000	-20.000000	1	0.380000	NM_018836			19	19		154	152	1		1	0		0	0	45	0		0.999993	3.711414e-02	0	0	0	3	0	19	154
NIPAL3	57185	broad.mit.edu	37	1	24782657	24782657	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:24782657G>A	ENST00000374399.4	+	8	1035	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	NIPAL3_ENST00000003912.3_Missense_Mutation_p.V141M|NIPAL3_ENST00000339255.2_Missense_Mutation_p.V223M	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	223						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AGTCAAGGCCGTGGCTGGGAT	0.557																																						ENST00000374399.4	0.060000	0	0.050000	0.010000	0.030000	0.036782	0.030000	0.030000																										0				14						c.(667-669)Gtg>Atg		NIPA-like domain containing 3							386.0	351.0	363.0					1																	24782657		2203	4300	6503	SO:0001583	missense	57185	0	0					g.chr1:24782657G>A	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.667G>A	chr1.hg19:g.24782657G>A	ENSP00000363520:p.Val223Met	1					NIPAL3_ENST00000339255.2_Missense_Mutation_p.V223M|NIPAL3_ENST00000003912.3_Missense_Mutation_p.V141M	p.V223M	NM_020448.4	NP_065181.1	0	1	1	1.895110	Q6P499	NPAL3_HUMAN		8	1035	+			A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	0	1	hg19	c.667G>A	CCDS30631.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.938783|3.938783	0.73557|0.73557	.|.	.|.	ENSG00000001461|ENSG00000001461	ENST00000432012|ENST00000374399;ENST00000003912;ENST00000339255	.|D;D;D	.|0.91792	.|-2.91;-2.91;-2.91	5.79|5.79	4.87|4.87	0.63330|0.63330	5.79|5.79	4.87|4.87	0.63330|0.63330	.|.	.|0.107041	.|0.64402	.|D	.|0.000006	D|D	0.95953|0.95953	0.8682|0.8682	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.66351	.|0.923;0.943	D|D	0.95952|0.95952	0.8955|0.8955	5|10	.|0.62326	.|D	.|0.03	-32.0797|-32.0797	14.3693|14.3693	0.66828|0.66828	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	.|223;223	.|Q6P499;A6NN97	.|NPAL3_HUMAN;.	H|M	1|223;141;223	.|ENSP00000363520:V223M;ENSP00000003912:V141M;ENSP00000343549:V223M	.|ENSP00000003912:V141M	R|V	+|+	2|1	0|0	0|0	NIPAL3|NIPAL3	24655244|24655244	24655244|24655244	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.732000|0.732000	0.41865|0.41865	5.124000|5.124000	0.64709|0.64709	2.745000|2.745000	0.94114|0.94114	0.561000|0.561000	0.74099|0.74099	CGT|GTG	0.313476		TCGA-FB-AAQ3-01A-11D-A40W-08	0.557	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	0	0	1		2	2	2	0		0	0	373		373	369	1	1.890000	-2.743427	1	0.380000	NM_020448			9	9		1284	1265	0		1	0		0	0	373	0		0.993797	9.576809e-04	0	0	0	6	0	9	1284
MACF1	23499	broad.mit.edu	37	1	39784230	39784230	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:39784230G>A	ENST00000372915.3	+	29	3990	c.3903G>A	c.(3901-3903)atG>atA	p.M1301I	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.M1301I|MACF1_ENST00000567887.1_Missense_Mutation_p.M1333I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1301I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1301I|MACF1_ENST00000564288.1_Missense_Mutation_p.M1296I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1301I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1301					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAAATGATGAAGCCAGGCC	0.512																																						ENST00000372915.3	0.720000	3.000000e-01	0.610000	0.390000	0.490000	0.503874	0.490000	0.480000																										0				203						c.(3901-3903)atG>atA		microtubule-actin crosslinking factor 1							75.0	65.0	68.0					1																	39784230		2203	4300	6503	SO:0001583	missense	23499	0	0					g.chr1:39784230G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3903G>A	chr1.hg19:g.39784230G>A	ENSP00000362006:p.Met1301Ile	1					MACF1_ENST00000564288.1_Missense_Mutation_p.M1296I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.M1301I|MACF1_ENST00000539005.1_Missense_Mutation_p.M1301I|MACF1_ENST00000567887.1_Missense_Mutation_p.M1333I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1301I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1301I	p.M1301I			0	1	1	1.895110	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)	29	3990	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	1	1	hg19	c.3903G>A		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.584623|2.584623	0.46110|0.46110	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	.|T;T;T;T;T;T;T	.|0.33654	.|1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.97|5.97	5.97|5.97	0.96955|0.96955	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|.	.|.	.|.	.|.	T|T	0.24928|0.24928	0.0605|0.0605	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.34587	.|0.458;0.32;0.019	.|B;B;B	.|0.31869	.|0.137;0.077;0.032	T|T	0.05835|0.05835	-1.0861|-1.0861	5|9	.|0.10636	.|T	.|0.68	.|.	20.4387|20.4387	0.99107|0.99107	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1301;1301;1266	.|F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|.;.;.	K|I	435|1301;1301;1301;1301;1301;1259;1450	.|ENSP00000439537:M1301I;ENSP00000362006:M1301I;ENSP00000354573:M1301I;ENSP00000313438:M1301I;ENSP00000444364:M1301I;ENSP00000435070:M1259I;ENSP00000437059:M1450I	.|ENSP00000313438:M1301I	E|M	+|+	1|3	0|0	0|0	MACF1|MACF1	39556817|39556817	39556817|39556817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.371000|3.371000	0.52379|0.52379	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GAA|ATG	0.313476		TCGA-FB-AAQ3-01A-11D-A40W-08	0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1		2	2	9	0		0	0	26		26	26	1	1.890000	-20.000000	1	0.380000	NM_033044			18	18		157	155	1		1		1	0	2	26	945		0.999985	0	1	0	91	0	1149	18	157
GLMN	11146	broad.mit.edu	37	1	92737044	92737044	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:92737044C>G	ENST00000370360.3	-	8	982	c.901G>C	c.(901-903)Gat>Cat	p.D301H	GLMN_ENST00000534881.1_Missense_Mutation_p.D301H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	301					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GGAAGCTGATCAATATGGATG	0.318									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3	0.080000	0	0.060000	0.020000	0.030000	0.044373	0.030000	0.040000																										0				17						c.(901-903)Gat>Cat		glomulin, FKBP associated protein							173.0	167.0	169.0					1																	92737044		2203	4300	6503	SO:0001583	missense	11146	0	0		Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	g.chr1:92737044C>G	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.901G>C	chr1.hg19:g.92737044C>G	ENSP00000359385:p.Asp301His	1					GLMN_ENST00000534881.1_Missense_Mutation_p.D301H	p.D301H	NM_053274.2	NP_444504.1	0	1	1	1.881734	Q92990	GLMN_HUMAN		8	982	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	0	1	hg19	c.901G>C	CCDS738.1	0	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871104	0.51695	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.50001	0.76;0.78	5.08	4.17	0.49024	5.08	4.17	0.49024	.	0.141925	0.64402	D	0.000007	T	0.50616	0.1626	M	0.63843	1.955	0.38063	D	0.936146	D;D	0.89917	0.989;1.0	P;D	0.69824	0.882;0.966	T	0.58064	-0.7702	10	0.87932	D	0	-13.4808	8.206	0.31456	0.0:0.7503:0.0:0.2497	.	301;301	B4DJ85;Q92990	.;GLMN_HUMAN	H	301	ENSP00000359385:D301H;ENSP00000440156:D301H	ENSP00000359385:D301H	D	-	1	0	0	GLMN	92509632	92509632	0.967000	0.33354	0.880000	0.34516	0.924000	0.55760	0.970000	0.29383	1.126000	0.42016	0.591000	0.81541	GAT	0.313476		TCGA-FB-AAQ3-01A-11D-A40W-08	0.318	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	0	0	1		2	2	2	0		0	0	140		140	140	1	1.890000	-2.584876	1	0.380000	NM_007070			5	5		633	622	0		1	0		0	0	140	0		0.934861	2.727419e-03	0	0	0	8	0	5	633
GALNT2	2590	broad.mit.edu	37	1	230338964	230338964	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:230338964G>A	ENST00000366672.4	+	3	374	c.302G>A	c.(301-303)cGc>cAc	p.R101H	GALNT2_ENST00000543760.1_Missense_Mutation_p.R63H|GALNT2_ENST00000541865.1_Missense_Mutation_p.R11H	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	101					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CCTTACGCCCGCAACAAGTTC	0.547																																						ENST00000366672.4	1.000000	2.000000e-02	0.110000	0.040000	0.060000	0.101519	0.060000	0.060000																										0				32						c.(301-303)cGc>cAc		polypeptide N-acetylgalactosaminyltransferase 2							123.0	123.0	123.0					1																	230338964		2203	4300	6503	SO:0001583	missense	2590	2	121412	41				g.chr1:230338964G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.302G>A	chr1.hg19:g.230338964G>A	ENSP00000355632:p.Arg101His	0					GALNT2_ENST00000541865.1_Missense_Mutation_p.R11H|GALNT2_ENST00000543760.1_Missense_Mutation_p.R63H	p.R101H	NM_004481.3	NP_004472.1	1	2	3	2.064077	Q10471	GALT2_HUMAN		3	374	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	0	1	hg19	c.302G>A	CCDS1582.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.625072	0.96671	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000541865	T;T;T	0.56611	0.45;0.45;1.05	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	L	0.55017	1.72	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60609	0.853;0.877	T	0.66862	-0.5816	10	0.56958	D	0.05	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	101;63	Q10471;G3V1S6	GALT2_HUMAN;.	H	63;101;11	ENSP00000445017:R63H;ENSP00000355632:R101H;ENSP00000444346:R11H	ENSP00000355632:R101H	R	+	2	0	0	GALNT2	228405587	228405587	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.792000	0.99085	2.826000	0.97356	0.655000	0.94253	CGC	0.384676		TCGA-FB-AAQ3-01A-11D-A40W-08	0.547	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	0	0	1		17	2	2	1		1	1	115		115	113	1	1.890000	-1.897440	0	0.380000	NM_004481			7	7		556	543	0		0	0		1	0	115	0		0.026503	2.243536e-04	0	0	0	2	0	7	556
AVP	551	broad.mit.edu	37	20	3065264	3065264	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3065264C>T	ENST00000380293.3	-	1	106	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	19			A -> T (in NDI; probably causes insufficient processing of precursor). {ECO:0000269|PubMed:12519420, ECO:0000269|PubMed:14673472, ECO:0000269|PubMed:8370682, ECO:0000269|PubMed:8514868, ECO:0000269|PubMed:8554046, ECO:0000269|PubMed:9580132}.|A -> V (in NDI). {ECO:0000269|PubMed:14673472, ECO:0000269|PubMed:8554046}.		cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGAAGTAGCACGCGGAGGAGA	0.637																																						ENST00000380293.3	1.000000	7.700000e-01	0.990000	0.830000	0.900000	0.911386	0.900000	1.000000																										0				3						c.(55-57)gcG>gcA		arginine vasopressin							126.0	115.0	119.0					20																	3065264		2203	4300	6503	SO:0001819	synonymous_variant	551	2	121412	39				g.chr20:3065264C>T	M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"""Endogenous ligands"""	894	protein-coding gene	gene with protein product	"""antidiuretic hormone"", ""neurophysin II"", ""diabetes insipidus"", ""neurohypophyseal"", ""prepro-AVP-NP II"", ""prepro-arginine-vasopressin-neurophysin II"""	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.57G>A	chr20.hg19:g.3065264C>T		0						p.A19A	NM_000490.4	NP_000481.2	0	1	1	2.038952	P01185	NEU2_HUMAN		1	106	-			A0AV35|O14935	Silent	SNP	ENST00000380293.3	1	1	hg19	c.57G>A	CCDS13045.1	1																																																																																								0.378820		TCGA-FB-AAQ3-01A-11D-A40W-08	0.637	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	1	0	1		2	2	2	0		0	0	143		143	139	1	1.890000	-20.000000	1	0.380000	NM_000490			127	124		603	595	1		1			0	0	143	0		1.000000	0	0	0	0	0	0	127	603
ITPA	3704	broad.mit.edu	37	20	3193873	3193873	+	Splice_Site	SNP	G	G	A	rs376142053		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3193873G>A	ENST00000380113.3	+	2	316		c.e2+1		ITPA_ENST00000483354.1_Splice_Site|ITPA_ENST00000455664.2_Splice_Site|ITPA_ENST00000399838.3_Intron	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AAAATTGACCGTATGTCTCTG	0.403																																						ENST00000380113.3	0.120000	1.000000e-02	0.090000	0.030000	0.050000	0.065149	0.050000	0.060000																										0				6						c.e2+1		inosine triphosphatase (nucleoside triphosphate pyrophosphatase)		G	,	0,4406		0,0,2203	180.0	174.0	176.0		,	5.4	1.0	20		176	1,8599	2.2+/-6.3	0,1,4299	no	splice-5,splice-5	ITPA	NM_033453.2,NM_181493.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	3193873	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3704	2	121412	40				g.chr20:3193873G>A	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.124+1G>A	chr20.hg19:g.3193873G>A		0					ITPA_ENST00000455664.2_Splice_Site|ITPA_ENST00000483354.1_Splice_Site|ITPA_ENST00000399838.3_Intron		NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1	0	1	1	2.038952				2	316	+				Splice_Site	SNP	ENST00000380113.3	0	1	hg19		CCDS13051.1	0	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987186	0.74589	0.0	1.16E-4	ENSG00000125877	ENST00000380113;ENST00000455664	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8694	0.70444	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ITPA	3141873	3141873	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.722000	0.84778	2.585000	0.87301	0.644000	0.83932	.	0.378820		TCGA-FB-AAQ3-01A-11D-A40W-08	0.403	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2	0	0	1		2	2	2	0		0	0	154		154	153	1	1.890000	-2.520640	1	0.380000		Intron		6	6		555	548	0		1			0	0	154	0		0.963750	0	0	0	0	0	0	6	555
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3	0.140000	2.000000e-02	0.110000	0.040000	0.060000	0.077326	0.060000	0.060000																										0				36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49.0	47.0	48.0					20																	34241168		2199	4292	6491	SO:0001583	missense	10137	0	0					g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	chr20.hg19:g.34241168G>A	ENSP00000363228:p.Pro693Ser	0					CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	0	1	1	2.038952	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)	3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	0	1	hg19	c.2077C>T	CCDS13261.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	0	RBM12	33704582	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC	0.378820		TCGA-FB-AAQ3-01A-11D-A40W-08	0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	0	1		2	2	2	0		0	0	131		131	130	1	1.890000	-2.182804	0	0.380000	NM_006047			6	6		466	458	0		1	0		0	0	131	0		0.963295	8.200116e-03	0	0	0	9	0	6	466
PLEKHM3	389072	broad.mit.edu	37	2	208842157	208842157	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:208842157G>A	ENST00000427836.2	-	3	1253	c.764C>T	c.(763-765)gCc>gTc	p.A255V	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.A255V|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A255V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	255	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.A255V(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGTACGTGGCATAAAGGTT	0.448																																						ENST00000427836.2	0.120000	1.000000e-02	0.090000	0.030000	0.050000	0.064691	0.050000	0.060000																										2	Substitution - Missense(2)	p.A255V(2)	prostate(2)	19						c.(763-765)gCc>gTc		pleckstrin homology domain containing, family M, member 3							197.0	192.0	194.0					2																	208842157		1980	4174	6154	SO:0001583	missense	389072	0	0					g.chr2:208842157G>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.764C>T	chr2.hg19:g.208842157G>A	ENSP00000417003:p.Ala255Val	0					PLEKHM3_ENST00000457206.1_Missense_Mutation_p.A255V|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A255V	p.A255V	NM_001080475.2	NP_001073944.1	0	1	1	2.039739	Q6ZWE6	PKHM3_HUMAN		3	1253	-			B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	0	1	hg19	c.764C>T	CCDS42808.1	0	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363231	0.41902	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	T;T;T	0.29655	1.56;1.56;1.56	5.96	5.08	0.68730	5.96	5.08	0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.265266	0.36740	N	0.002437	T	0.20700	0.0498	N	0.19112	0.55	0.35452	D	0.795766	B;B	0.32573	0.376;0.1	B;B	0.26770	0.073;0.036	T	0.24977	-1.0145	10	0.59425	D	0.04	-18.8129	14.2231	0.65841	0.0:0.0:0.7279:0.2721	.	255;255	C9J119;Q6ZWE6	.;PKHM3_HUMAN	V	255	ENSP00000417003:A255V;ENSP00000373899:A255V;ENSP00000400150:A255V	ENSP00000373899:A255V	A	-	2	0	0	PLEKHM3	208550402	208550402	1.000000	0.71417	0.996000	0.52242	0.617000	0.37484	4.284000	0.58983	1.516000	0.48900	0.655000	0.94253	GCC	0.378820		TCGA-FB-AAQ3-01A-11D-A40W-08	0.448	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	0	0	1		17	2	2	1		1	1	116		116	115	1	1.890000	-1.845026	0	0.380000	NM_001080475			6	6		559	552	0		0			1	0	116	0		0.015086	0	0	0	0	0	0	6	559
MREG	55686	broad.mit.edu	37	2	216861118	216861118	+	Missense_Mutation	SNP	G	G	A	rs368256699		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:216861118G>A	ENST00000263268.6	-	2	461	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	56						plasma membrane (GO:0005886)				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		ACATCATGGGGCATACTCCAT	0.438																																						ENST00000263268.6	0.150000	2.000000e-02	0.110000	0.040000	0.070000	0.082805	0.070000	0.070000																										0				3						c.(166-168)Ccc>Tcc		melanoregulin							133.0	131.0	131.0					2																	216861118		1902	4128	6030	SO:0001583	missense	55686	0	0					g.chr2:216861118G>A	AK000978	CCDS46513.1	2q35	2013-09-27			ENSG00000118242	ENSG00000118242			25478	protein-coding gene	gene with protein product		609207				19240024, 22275436	Standard	NM_018000		Approved	FLJ10116, DSU, WDT2	uc002vfo.3	Q8N565	OTTHUMG00000154828	ENST00000263268.6:c.166C>T	chr2.hg19:g.216861118G>A	ENSP00000263268:p.Pro56Ser	0						p.P56S	NM_018000.2	NP_060470.2	0	1	1	2.039739	Q8N565	MREG_HUMAN		2	461	-		Renal(323;0.0328)	Q53R89|Q53TC1|Q5XKB6|Q9NWC9|Q9P1S1	Missense_Mutation	SNP	ENST00000263268.6	0	1	hg19	c.166C>T	CCDS46513.1	0	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445649	0.84101	.	.	ENSG00000118242	ENST00000236976;ENST00000263268;ENST00000439791;ENST00000424992;ENST00000420348	T	0.57595	0.39	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.053672	0.85682	D	0.000000	T	0.69602	0.3129	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71388	-0.4608	10	0.87932	D	0	-15.281	16.501	0.84256	0.0:0.0:1.0:0.0	.	56	Q8N565	MREG_HUMAN	S	56;56;2;2;2	ENSP00000263268:P56S	ENSP00000236976:P56S	P	-	1	0	0	MREG	216569363	216569363	1.000000	0.71417	0.943000	0.38184	0.969000	0.65631	5.223000	0.65283	2.759000	0.94783	0.557000	0.71058	CCC	0.378820		TCGA-FB-AAQ3-01A-11D-A40W-08	0.438	MREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337297.1	0	0	1		2	2	2	0		0	0	69		69	68	1	1.890000	-2.604749	1	0.380000	NM_018000			5	6		372	370	0		1	0		0	0	69	0		0.937502	8.626317e-04	0	0	0	3	0	5	372
SETD2	29072	broad.mit.edu	37	3	47098937	47098937	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:47098937G>A	ENST00000409792.3	-	15	6379	c.6337C>T	c.(6337-6339)Cgc>Tgc	p.R2113C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2113					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTATTGCGGTCTTTAATT	0.403			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3	0.220000	3.000000e-02	0.160000	0.060000	0.100000	0.118417	0.100000	0.100000				Rec	yes			Rec	yes		3	3p21.31	3p21.31	29072	N, F, S, Mis	SET domain containing 2				E	E			clear cell renal carcinoma		0				141						c.(6337-6339)Cgc>Tgc		SET domain containing 2							56.0	58.0	57.0					3																	47098937		2203	4300	6503	SO:0001583	missense	29072	0	0					g.chr3:47098937G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6337C>T	chr3.hg19:g.47098937G>A	ENSP00000386759:p.Arg2113Cys	0						p.R2113C	NM_014159.6	NP_054878.5	0	0	0	2.032035	Q9BYW2	SETD2_HUMAN		15	6379	-		Acute lymphoblastic leukemia(5;0.0169)	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	0	1	hg19	c.6337C>T	CCDS2749.2	0	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388690	0.82902	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24908	1.83	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000013	T	0.43122	0.1233	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.57679	0.825;0.825	T	0.36817	-0.9732	10	0.87932	D	0	.	18.4955	0.90864	0.0:0.0:1.0:0.0	.	2113;2113	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	2113	ENSP00000386759:R2113C	ENSP00000386759:R2113C	R	-	1	0	0	SETD2	47073941	47073941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.993000	0.70616	2.686000	0.91538	0.561000	0.74099	CGC	0.377635		TCGA-FB-AAQ3-01A-11D-A40W-08	0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	0	0	1		2	2	2	0		0	0	59		59	59	1	1.890000	-4.017868	1	0.380000	NM_014159			5	5		257	253	0		1	0		0	0	59	0		0.935582	6.727365e-02	0	0	0	18	0	5	257
APBB2	323	broad.mit.edu	37	4	40895355	40895355	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:40895355G>A	ENST00000295974.8	-	11	1954	c.1325C>T	c.(1324-1326)gCg>gTg	p.A442V	APBB2_ENST00000513140.1_Missense_Mutation_p.A421V|APBB2_ENST00000506352.1_Missense_Mutation_p.A421V|APBB2_ENST00000508593.1_Missense_Mutation_p.A443V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	442	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.A421V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTTGTTGACCGCAACACTACT	0.502																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8	1.000000	0	0.060000	0.020000	0.030000	0.071179	0.030000	0.040000																										1	Substitution - Missense(1)	p.A421V(1)	urinary_tract(1)	34						c.(1324-1326)gCg>gTg		amyloid beta (A4) precursor protein-binding, family B, member 2							206.0	213.0	211.0					4																	40895355		1997	4171	6168	SO:0001583	missense	323	2	120914	35				g.chr4:40895355G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1325C>T	chr4.hg19:g.40895355G>A	ENSP00000295974:p.Ala442Val	0					APBB2_ENST00000513140.1_Missense_Mutation_p.A421V|APBB2_ENST00000508593.1_Missense_Mutation_p.A443V|APBB2_ENST00000506352.1_Missense_Mutation_p.A421V	p.A442V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	1	2	3	2.067516	Q92870	APBB2_HUMAN		11	1954	-			B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	0	1	hg19	c.1325C>T	CCDS54761.1	0	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243991	0.79912	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.64	5.64	0.86602	5.64	5.64	0.86602	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.999;0.999;0.999	T	0.17198	-1.0377	10	0.66056	D	0.02	-15.5656	19.7013	0.96054	0.0:0.0:1.0:0.0	.	404;443;421;442	B4DJ88;E9PG87;Q92870-2;Q92870	.;.;.;APBB2_HUMAN	V	442;441;421;443;421	ENSP00000295974:A442V;ENSP00000426018:A421V;ENSP00000427211:A443V;ENSP00000421539:A421V	ENSP00000295974:A442V	A	-	2	0	0	APBB2	40590112	40590112	1.000000	0.71417	0.604000	0.28916	0.138000	0.21146	9.771000	0.98977	2.657000	0.90304	0.655000	0.94253	GCG	0.384676		TCGA-FB-AAQ3-01A-11D-A40W-08	0.502	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	0	0	1		2	2	2	0		0	0	168		168	166	1	1.890000	-1.861801	0	0.380000	NM_173075			6	6		837	823	0		1	0		0	0	168	0		0.963175	7.833592e-05	0	0	0	2	0	6	837
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						ENST00000334635.5	1.000000	1.000000e-02	0.090000	0.030000	0.050000	0.090605	0.050000	0.060000																										0				9						c.(691-693)cTt>cCt		DCN1, defective in cullin neddylation 1, domain containing 4							121.0	119.0	119.0					4																	52777312		2203	4300	6503	SO:0001583	missense	23142	0	0					g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	chr4.hg19:g.52777312T>C	ENSP00000334625:p.Leu231Pro	0					DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	p.L231P	NM_001040402.1	NP_001035492.1	1	2	3	2.067516	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)	9	872	+			B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	0	1	hg19	c.692T>C	CCDS33982.1	0	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	0	DCUN1D4	52472069	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT	0.384676		TCGA-FB-AAQ3-01A-11D-A40W-08	0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	0	0	1		2	2	2	0		0	0	100		100	100	1	1.890000	-2.108720	0	0.380000	NM_015115			5	5		491	481	0		1	0		0	0	100	0		0.934432	1.547333e-02	0	0	0	15	0	5	491
INPP4B	8821	broad.mit.edu	37	4	143033802	143033802	+	Silent	SNP	G	G	A	rs376859157		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:143033802G>A	ENST00000513000.1	-	23	2602	c.2169C>T	c.(2167-2169)gcC>gcT	p.A723A	INPP4B_ENST00000508116.1_Silent_p.A723A|INPP4B_ENST00000308502.4_Silent_p.A723A|INPP4B_ENST00000509777.1_Silent_p.A723A|INPP4B_ENST00000262992.4_Silent_p.A723A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	723					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAAACATTCTGGCTGGAAGCT	0.368																																						ENST00000513000.1	1.000000	7.300000e-01	0.990000	0.800000	0.890000	0.893928	0.890000	1.000000																										0				58						c.(2167-2169)gcC>gcT		inositol polyphosphate-4-phosphatase, type II, 105kDa		G	,	1,4405	2.1+/-5.4	0,1,2202	155.0	153.0	154.0		2169,2169	-9.7	0.0	4		154	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	INPP4B	NM_001101669.1,NM_003866.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	723/925,723/925	143033802	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8821	4	121400	37				g.chr4:143033802G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2169C>T	chr4.hg19:g.143033802G>A		0					INPP4B_ENST00000508116.1_Silent_p.A723A|INPP4B_ENST00000262992.4_Silent_p.A723A|INPP4B_ENST00000308502.4_Silent_p.A723A|INPP4B_ENST00000509777.1_Silent_p.A723A	p.A723A	NM_003866.2	NP_003857.2	1	2	3	2.067516	O15327	INP4B_HUMAN		23	2602	-	all_hematologic(180;0.158)		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	1	1	hg19	c.2169C>T	CCDS3757.1	1																																																																																								0.384676		TCGA-FB-AAQ3-01A-11D-A40W-08	0.368	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	1	0	1		2	2	2	0		0	0	109		109	109	1	1.890000	-3.236347	1	0.380000	NM_003866			91	90		450	446	1		1	1		0	0	109	0		1.000000	9.999867e-01	0	39	0	42	0	91	450
SNCAIP	9627	broad.mit.edu	37	5	121786604	121786604	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:121786604C>T	ENST00000261368.8	+	10	2324	c.2062C>T	c.(2062-2064)Ccc>Tcc	p.P688S	CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P246S|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261367.7_Missense_Mutation_p.P735S|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P290S|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P628S|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P322S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P735S|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	688					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTCTGAGGACCCCAAGACTAC	0.547																																						ENST00000261368.8	1.000000	7.600000e-01	1.000000	0.880000	0.990000	0.955732	0.990000	1.000000																										0				39						c.(2062-2064)Ccc>Tcc		synuclein, alpha interacting protein							55.0	55.0	55.0					5																	121786604		2203	4300	6503	SO:0001583	missense	9627	0	0					g.chr5:121786604C>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2062C>T	chr5.hg19:g.121786604C>T	ENSP00000261368:p.Pro688Ser	0					SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.P735S|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P322S|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P735S|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P246S|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P628S|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P290S	p.P688S	NM_005460.2	NP_005451.2	1	2	3	2.057957	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	10	2324	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	1	1	hg19	c.2062C>T	CCDS4131.1	1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805916	0.70682	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.12465	4.49;5.02;2.73;2.68;5.02;4.99;2.68;4.71	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.332317	0.35436	N	0.003205	T	0.15825	0.0381	L	0.29908	0.895	0.34659	D	0.72249	B;B;B;B;B;B;B;B	0.32467	0.208;0.354;0.208;0.241;0.312;0.372;0.372;0.156	B;B;B;B;B;B;B;B	0.35550	0.101;0.138;0.101;0.058;0.205;0.058;0.114;0.026	T	0.07731	-1.0757	10	0.56958	D	0.05	-24.3293	20.6208	0.99490	0.0:1.0:0.0:0.0	.	628;316;290;628;322;322;735;688	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	S	246;628;688;735;628;322;735;290;328	ENSP00000441681:P246S;ENSP00000422106:P628S;ENSP00000261368:P688S;ENSP00000368848:P735S;ENSP00000368851:P628S;ENSP00000368854:P322S;ENSP00000261367:P735S;ENSP00000394392:P290S	ENSP00000261367:P735S	P	+	1	0	0	SNCAIP	121814503	121814503	0.992000	0.36948	1.000000	0.80357	0.900000	0.52787	2.147000	0.42226	2.882000	0.98803	0.655000	0.94253	CCC	0.382347		TCGA-FB-AAQ3-01A-11D-A40W-08	0.547	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	1	0	1		2	2	2	0		0	0	39		39	39	1	1.890000	-20.000000	1	0.380000				47	45		199	193	1		1	0		0	0	39	0		1.000000	9.902837e-02	0	1	0	2	0	47	199
FAM13B	51306	broad.mit.edu	37	5	137288332	137288332	+	Missense_Mutation	SNP	G	G	A	rs375616241		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:137288332G>A	ENST00000033079.3	-	16	2300	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	FAM13B_ENST00000425075.2_Missense_Mutation_p.R521W|FAM13B_ENST00000420893.2_Missense_Mutation_p.R617W	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	617					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						ATTTGCTTCCGCAGTTTTGTA	0.313																																						ENST00000033079.3	1.000000	6.400000e-01	0.900000	0.710000	0.800000	0.808938	0.800000	0.800000																										0				11						c.(1849-1851)Cgg>Tgg		family with sequence similarity 13, member B		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	108.0	106.0		1849,1561,1849	3.9	1.0	5		106	0,8600		0,0,4300	no	missense,missense,missense	FAM13B	NM_001101800.1,NM_001101801.1,NM_016603.2	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	617/888,521/792,617/916	137288332	1,13005	2203	4300	6503	SO:0001583	missense	51306	2	121412	34				g.chr5:137288332G>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1849C>T	chr5.hg19:g.137288332G>A	ENSP00000033079:p.Arg617Trp	0					FAM13B_ENST00000425075.2_Missense_Mutation_p.R521W|FAM13B_ENST00000420893.2_Missense_Mutation_p.R617W	p.R617W	NM_016603.2	NP_057687.2	1	2	3	2.057957	Q9NYF5	FA13B_HUMAN		16	2300	-			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	1	1	hg19	c.1849C>T	CCDS4195.1	0	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871297	0.72065	2.27E-4	0.0	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95788	-3.81;0.71;-3.81	5.92	3.94	0.45596	5.92	3.94	0.45596	.	0.055638	0.64402	D	0.000002	D	0.97356	0.9135	M	0.82517	2.595	0.51482	D	0.999926	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.73708	0.981;0.928;0.957	D	0.97740	1.0208	10	0.87932	D	0	-6.3967	12.1708	0.54157	0.0:0.0:0.4451:0.5549	.	521;617;617	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	W	617;521;617	ENSP00000033079:R617W;ENSP00000394669:R521W;ENSP00000388521:R617W	ENSP00000033079:R617W	R	-	1	2	2	FAM13B	137316231	137316231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.782000	0.55401	1.460000	0.47911	0.557000	0.71058	CGG	0.382347		TCGA-FB-AAQ3-01A-11D-A40W-08	0.313	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1	1	0	1		2	2	2	0		0	0	105		105	104	1	1.890000	-20.000000	1	0.380000				74	74		413	411	1		1	0		0	0	105	0		1.000000	1.146614e-01	0	1	0	3	0	74	413
PCDHA8	56140	broad.mit.edu	37	5	140223264	140223264	+	Silent	SNP	C	C	T	rs370299201		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140223264C>T	ENST00000531613.1	+	1	2358	c.2358C>T	c.(2356-2358)ggC>ggT	p.G786G	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G786G|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	786	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATGTAGGCGAAGAGCAAG	0.448																																						ENST00000531613.1	1.000000	6.600000e-01	1.000000	0.770000	0.890000	0.887203	0.890000	1.000000																										0				78						c.(2356-2358)ggC>ggT		protocadherin alpha 8							54.0	55.0	55.0					5																	140223264		2196	4263	6459	SO:0001819	synonymous_variant	56140	0	0					g.chr5:140223264C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2358C>T	chr5.hg19:g.140223264C>T		0					PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.G786G|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.G786G	NM_018911.2	NP_061734.1	1	2	3	2.057957	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2358	+			B9EGT7|O75281	Silent	SNP	ENST00000531613.1	1	1	hg19	c.2358C>T	CCDS54919.1	1																																																																																								0.382347		TCGA-FB-AAQ3-01A-11D-A40W-08	0.448	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	1	0	1		2	2	2	0		0	0	49		49	48	1	1.890000	-3.377415	1	0.380000	NM_018911			41	41		201	198	1		1			0	0	49	0		1.000000	0	0	0	0	0	0	41	201
PCDHGB7	56099	broad.mit.edu	37	5	140798660	140798660	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140798660C>T	ENST00000398594.2	+	1	1234	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	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|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	412	Cadherin 4. {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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCTGGATCGGGAGCAGAC	0.473																																						ENST00000398594.2	0.480000	1.100000e-01	0.350000	0.170000	0.250000	0.273357	0.250000	0.240000																										0				56						c.(1234-1236)Cgg>Tgg		protocadherin gamma subfamily B, 7							42.0	46.0	45.0					5																	140798660		2078	4186	6264	SO:0001583	missense	56099	0	0					g.chr5:140798660C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1234C>T	chr5.hg19:g.140798660C>T	ENSP00000381594:p.Arg412Trp	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|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	p.R412W	NM_018927.3	NP_061750.1	1	2	3	2.057957	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1234	+			Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	1	1	hg19	c.1234C>T	CCDS47293.1	0	.	.	.	.	.	.	.	.	.	.	c	14.00	2.405532	0.42715	.	.	ENSG00000254122	ENST00000398594	T	0.01685	4.69	5.31	-1.36	0.09085	5.31	-1.36	0.09085	Cadherin (4);Cadherin-like (1);	0.000000	0.28671	U	0.014540	T	0.19167	0.0460	H	0.97940	4.11	0.22648	N	0.998896	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44982	-0.9292	10	0.87932	D	0	.	19.8821	0.96901	0.8062:0.1938:0.0:0.0	.	412;412	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	W	412	ENSP00000381594:R412W	ENSP00000381594:R412W	R	+	1	2	2	PCDHGB7	140778844	140778844	0.029000	0.19370	0.019000	0.16419	0.952000	0.60782	-0.448000	0.06820	-0.478000	0.06823	0.561000	0.74099	CGG	0.382347		TCGA-FB-AAQ3-01A-11D-A40W-08	0.473	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	1	0	1		2	2	2	0		0	0	43		43	42	1	1.890000	-10.743960	1	0.380000	NM_018927			8	8		167	165	0		1			0	0	43	0		0.989392	0	0	0	0	0	0	8	167
PRDM13	59336	broad.mit.edu	37	6	100061933	100061933	+	Silent	SNP	G	G	A	rs377013141		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:100061933G>A	ENST00000369215.4	+	4	1727	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	474					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGGCTCACCGGCCACCACCG	0.632																																						ENST00000369215.4	1.000000	6.600000e-01	0.940000	0.750000	0.850000	0.851214	0.850000	0.860000																										0				17						c.(1420-1422)ccG>ccA		PR domain containing 13		G		2,3800		0,2,1899	22.0	25.0	24.0		1422	-0.5	0.2	6		24	0,8186		0,0,4093	no	coding-synonymous	PRDM13	NM_021620.3		0,2,5992	AA,AG,GG		0.0,0.0526,0.0167		474/708	100061933	2,11986	1901	4093	5994	SO:0001819	synonymous_variant	59336	4	120604	33				g.chr6:100061933G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1422G>A	chr6.hg19:g.100061933G>A		1						p.P474P	NM_021620.3	NP_067633.2	0	1	1	1.665068	Q9H4Q3	PRD13_HUMAN		4	1727	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	1	1	hg19	c.1422G>A	CCDS43487.1	1																																																																																								0.236359		TCGA-FB-AAQ3-01A-11D-A40W-08	0.632	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2	1	0	1		2	2	2	0		0	0	44		44	44	1	1.890000	-20.000000	1	0.380000				51	50		198	193	0		1			0	0	44	0		1.000000	0	0	0	0	0	0	51	198
MAN1A1	4121	broad.mit.edu	37	6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R545W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3	0.110000	1.000000e-02	0.080000	0.030000	0.050000	0.062287	0.050000	0.050000																										1	Substitution - Missense(1)	p.R545W(1)	prostate(1)	24						c.(1633-1635)Cgg>Tgg		mannosidase, alpha, class 1A, member 1							193.0	190.0	191.0					6																	119509656		2203	4300	6503	SO:0001583	missense	4121	0	0					g.chr6:119509656G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1633C>T	chr6.hg19:g.119509656G>A	ENSP00000357453:p.Arg545Trp	1						p.R545W	NM_005907.3	NP_005898.2	0	1	1	1.665068	P33908	MA1A1_HUMAN		11	2074	-		all_epithelial(87;0.173)	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	0	1	hg19	c.1633C>T	CCDS5122.1	0	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244459	0.79912	.	.	ENSG00000111885	ENST00000368468	D	0.83837	-1.77	5.92	4.98	0.66077	5.92	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97318	0.9942	10	0.87932	D	0	-28.3893	17.0826	0.86603	0.0:0.0:0.8481:0.1519	.	545	P33908	MA1A1_HUMAN	W	545	ENSP00000357453:R545W	ENSP00000357453:R545W	R	-	1	2	2	MAN1A1	119551355	119551355	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.615000	0.54167	2.794000	0.96219	0.650000	0.86243	CGG	0.236359		TCGA-FB-AAQ3-01A-11D-A40W-08	0.413	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	0	0	1		15	2	2	1		1	1	114		114	114	1	1.890000	-1.938152	0	0.380000	NM_005907			6	6		469	467	0		0	0		1	0	114	0		0.036359	4.844638e-03	0	0	0	7	0	6	469
HIST1H2AC	8334	broad.mit.edu	37	6	26124629	26124629	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:26124629G>A	ENST00000602637.1	+	1	199	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57K|HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GGCGGTGTTAGAGTACCTGAC	0.662																																						ENST00000602637.1	1.000000	8.700000e-01	1.000000	0.980000	0.990000	0.989328	0.990000	1.000000																										0				12						c.(169-171)Gag>Aag		histone cluster 1, H2ac							50.0	51.0	51.0					6																	26124629		2203	4300	6503	SO:0001583	missense	8334	0	0					g.chr6:26124629G>A	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.169G>A	chr6.hg19:g.26124629G>A	ENSP00000473534:p.Glu57Lys	0					HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57K	p.E57K			0	1	1	2.036596	Q93077	H2A1C_HUMAN		1	199	+			B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	1	1	hg19	c.169G>A	CCDS4585.1	1	.	.	.	.	.	.	.	.	.	.	.	33	5.221276	0.95139	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.61742	0.08;0.08	5.78	5.78	0.91487	5.78	5.78	0.91487	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44902	D	0.000401	D	0.84124	0.5403	H	0.97516	4.02	0.51767	D	0.999937	D	0.89917	1.0	D	0.97110	1.0	D	0.88700	0.3215	10	0.87932	D	0	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	57	Q93077	H2A1C_HUMAN	K	57	ENSP00000367022:E57K;ENSP00000321389:E57K	ENSP00000321389:E57K	E	+	1	0	0	HIST1H2AC	26232608	26232608	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.460000	0.97641	2.894000	0.99253	0.591000	0.81541	GAG	0.378820		TCGA-FB-AAQ3-01A-11D-A40W-08	0.662	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	1	0	1		2	2	2	0		0	0	72		72	71	1	1.890000	-20.000000	1	0.380000	NM_003512			59	57		218	212	1		1	1		0	0	72	0		1.000000	9.998886e-01	0	25	0	28	0	59	218
PHIP	55023	broad.mit.edu	37	6	79668316	79668316	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:79668316G>A	ENST00000275034.4	-	32	3825	c.3658C>T	c.(3658-3660)Cgg>Tgg	p.R1220W	AL356776.1_ENST00000516160.2_RNA|PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1220	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAAGAAACCCGCCTTAAAAAA	0.328																																						ENST00000275034.4	0.180000	3.000000e-02	0.140000	0.060000	0.090000	0.105421	0.090000	0.100000																										0				68						c.(3658-3660)Cgg>Tgg		pleckstrin homology domain interacting protein							37.0	38.0	38.0					6																	79668316		2203	4299	6502	SO:0001630	splice_region_variant	55023	0	0					g.chr6:79668316G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3657-1C>T	chr6.hg19:g.79668316G>A		0					PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	p.R1220W	NM_017934.5	NP_060404	0	1	1	2.039014	Q8WWQ0	PHIP_HUMAN		32	3825	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000275034.4	0	1	hg19	c.3658C>T	CCDS4987.1	0	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383342	0.82792	.	.	ENSG00000146247	ENST00000275034	T	0.19394	2.15	5.9	5.9	0.94986	5.9	5.9	0.94986	Bromodomain (5);	0.000000	0.64402	D	0.000002	T	0.44435	0.1293	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.45833	-0.9234	9	.	.	.	-9.9537	14.1372	0.65295	0.0:0.0:0.8502:0.1498	.	1220;1220	A7J992;Q8WWQ0	.;PHIP_HUMAN	W	1220	ENSP00000275034:R1220W	.	R	-	1	2	2	PHIP	79725035	79725035	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.978000	0.88095	2.793000	0.96121	0.563000	0.77884	CGG	0.378820		TCGA-FB-AAQ3-01A-11D-A40W-08	0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	0	0	0		12	2	2	1		1	1	127		127	127	1	1.890000	-6.585479	1	0.380000		Missense_Mutation		7	7		388	385	0		0			1	0	127	0		0.170877	0	0	0	0	0	0	7	388
LATS1	9113	broad.mit.edu	37	6	149983251	149983251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:149983251C>A	ENST00000543571.1	-	8	3554	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.E1003*	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTTTTATTTCATCAGCACCA	0.408																																						ENST00000543571.1	1.000000	8.300000e-01	1.000000	0.890000	0.950000	0.947720	0.950000	1.000000																										0				6						c.(3007-3009)Gaa>Taa		large tumor suppressor kinase 1							130.0	132.0	131.0					6																	149983251		2203	4300	6503	SO:0001587	stop_gained	9113	0	0					g.chr6:149983251C>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3007G>T	chr6.hg19:g.149983251C>A	ENSP00000437550:p.Glu1003*	1					LATS1_ENST00000253339.5_Nonsense_Mutation_p.E1003*	p.E1003*	NM_004690.3	NP_004681.1	0	1	1	1.662849				8	3554	-		Ovarian(120;0.0164)		Nonsense_Mutation	SNP	ENST00000543571.1	0	1	hg19	c.3007G>T	CCDS34551.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.619519	0.98888	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2848	0.94066	0.0:1.0:0.0:0.0	.	.	.	.	X	1003	.	.	E	-	1	0	0	LATS1	150024944	150024944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.562000	0.86427	0.591000	0.81541	GAA	0.236359		TCGA-FB-AAQ3-01A-11D-A40W-08	0.408	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	1	0	1		2	2	2	0		0	0	140		140	138	1	1.890000	-20.000000	1	0.380000	NM_004690			115	111		370	364	0		1			0	0	140	0		1.000000	0	0	0	0	0	0	115	370
EEPD1	80820	broad.mit.edu	37	7	36194002	36194002	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:36194002G>C	ENST00000242108.4	+	2	787	c.69G>C	c.(67-69)aaG>aaC	p.K23N	EEPD1_ENST00000534978.1_Missense_Mutation_p.K23N	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	23					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ATAGCCGCAAGTTCAGCGCAG	0.632																																						ENST00000242108.4	1.000000	6.500000e-01	1.000000	0.760000	0.870000	0.874427	0.870000	1.000000																										0				18						c.(67-69)aaG>aaC		endonuclease/exonuclease/phosphatase family domain containing 1							76.0	72.0	73.0					7																	36194002		2203	4300	6503	SO:0001583	missense	80820	0	0					g.chr7:36194002G>C	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.69G>C	chr7.hg19:g.36194002G>C	ENSP00000242108:p.Lys23Asn	0					EEPD1_ENST00000534978.1_Missense_Mutation_p.K23N	p.K23N	NM_030636.2	NP_085139.2	1	2	3	2.044891	Q7L9B9	EEPD1_HUMAN		2	787	+			Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	1	1	hg19	c.69G>C	CCDS34619.1	1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466389	0.63625	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.25250	1.81;1.81	5.72	4.83	0.62350	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	L	0.27053	0.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.10660	-1.0620	10	0.49607	T	0.09	-36.8743	10.72	0.46034	0.1452:0.0:0.8548:0.0	.	23	Q7L9B9	EEPD1_HUMAN	N	23	ENSP00000242108:K23N;ENSP00000442692:K23N	ENSP00000242108:K23N	K	+	3	2	2	EEPD1	36160527	36160527	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.540000	0.45727	1.403000	0.46800	0.561000	0.74099	AAG	0.381176		TCGA-FB-AAQ3-01A-11D-A40W-08	0.632	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	1	0	1		2	2	2	0		0	0	60		60	60	1	1.890000	-20.000000	1	0.380000	NM_030636			44	44		220	215	1		1	0		0	0	60	0		1.000000	2.022498e-01	0	0	0	5	0	44	220
BMP1	649	broad.mit.edu	37	8	22037986	22037986	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:22037986C>A	ENST00000306385.5	+	8	1737	c.1067C>A	c.(1066-1068)cCc>cAc	p.P356H	BMP1_ENST00000306349.8_Missense_Mutation_p.P356H|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.P356H|BMP1_ENST00000397814.3_Missense_Mutation_p.P356H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCTGTCACACCCGGGGAGAAG	0.612																																						ENST00000306385.5	0.130000	1.000000e-02	0.100000	0.030000	0.060000	0.069934	0.060000	0.060000																										0				30						c.(1066-1068)cCc>cAc		bone morphogenetic protein 1							167.0	143.0	151.0					8																	22037986		2203	4300	6503	SO:0001583	missense	649	0	0					g.chr8:22037986C>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1067C>A	chr8.hg19:g.22037986C>A	ENSP00000305714:p.Pro356His	1					BMP1_ENST00000397816.3_Missense_Mutation_p.P356H|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.P356H|BMP1_ENST00000397814.3_Missense_Mutation_p.P356H	p.P356H	NM_006129.4	NP_006120.1	0	1	1	1.702097	P13497	BMP1_HUMAN		8	1737	+			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	0	1	hg19	c.1067C>A	CCDS6026.1	0	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561849	0.65538	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.66	5.66	0.87406	5.66	5.66	0.87406	CUB (5);	0.000000	0.38272	U	0.001746	T	0.45637	0.1352	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.964;0.969	D;D;P;P	0.97110	0.986;1.0;0.864;0.752	T	0.11060	-1.0603	10	0.37606	T	0.19	.	18.5112	0.90917	0.0:1.0:0.0:0.0	.	356;429;356;356	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	H	356	ENSP00000305714:P356H;ENSP00000380917:P356H;ENSP00000306121:P356H;ENSP00000380915:P356H	ENSP00000306121:P356H	P	+	2	0	0	BMP1	22093931	22093931	1.000000	0.71417	0.727000	0.30756	0.525000	0.34531	7.772000	0.85439	2.665000	0.90641	0.561000	0.74099	CCC	0.241683		TCGA-FB-AAQ3-01A-11D-A40W-08	0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	0	0	1		2	2	2	0		0	0	75		75	75	1	1.890000	-2.881535	1	0.380000	NM_006132			5	5		359	355	0		1	0		0	0	75	0		0.936128	3.436077e-02	0	0	0	17	0	5	359
CHMP7	91782	broad.mit.edu	37	8	23114047	23114047	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:23114047G>A	ENST00000397677.1	+	5	1380	c.732G>A	c.(730-732)ctG>ctA	p.L244L	CHMP7_ENST00000313219.7_Silent_p.L244L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	244					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTACCAGCTGATGCAGAGTG	0.517																																						ENST00000397677.1	0.070000	0	0.050000	0.010000	0.020000	0.036035	0.020000	0.030000																										0				11						c.(730-732)ctG>ctA		charged multivesicular body protein 7							266.0	242.0	250.0					8																	23114047		2203	4300	6503	SO:0001819	synonymous_variant	91782	0	0					g.chr8:23114047G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.732G>A	chr8.hg19:g.23114047G>A		1					CHMP7_ENST00000313219.7_Silent_p.L244L	p.L244L	NM_152272.3	NP_689485.1	0	1	1	1.702097	Q8WUX9	CHMP7_HUMAN		5	1380	+		Prostate(55;0.0513)	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	0	1	hg19	c.732G>A	CCDS6040.1	0																																																																																								0.241683		TCGA-FB-AAQ3-01A-11D-A40W-08	0.517	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	0	0	1		2	2	2	0		0	0	215		215	215	1	1.890000	-2.520252	1	0.380000	NM_152272			6	6		825	814	0		1	0		0	0	215	0		0.963565	3.425244e-03	0	0	0	10	0	6	825
PI15	51050	broad.mit.edu	37	8	75761394	75761394	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:75761394C>A	ENST00000260113.2	+	6	862	c.683C>A	c.(682-684)cCa>cAa	p.P228Q	PI15_ENST00000523773.1_Missense_Mutation_p.P228Q|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	228						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTAGGGGTACCATGTTCATCT	0.393																																						ENST00000260113.2	1.000000	7.400000e-01	0.980000	0.820000	0.890000	0.899790	0.890000	1.000000																										0				30						c.(682-684)cCa>cAa		peptidase inhibitor 15							211.0	190.0	197.0					8																	75761394		2203	4300	6503	SO:0001583	missense	51050	0	0					g.chr8:75761394C>A	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.683C>A	chr8.hg19:g.75761394C>A	ENSP00000260113:p.Pro228Gln	0					RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.P228Q	p.P228Q	NM_015886.3	NP_056970.1	0	0	0	2.031454	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)	6	862	+	Breast(64;0.137)		Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	1	1	hg19	c.683C>A	CCDS6218.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692584	0.88735	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.11821	2.74;2.74	5.15	5.15	0.70609	5.15	5.15	0.70609	CAP domain (1);	0.051987	0.85682	D	0.000000	T	0.48554	0.1506	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57533	-0.7795	10	0.62326	D	0.03	.	19.1672	0.93562	0.0:1.0:0.0:0.0	.	228	O43692	PI15_HUMAN	Q	228	ENSP00000260113:P228Q;ENSP00000428567:P228Q	ENSP00000260113:P228Q	P	+	2	0	0	PI15	75923949	75923949	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.278000	0.78587	2.833000	0.97629	0.585000	0.79938	CCA	0.377635		TCGA-FB-AAQ3-01A-11D-A40W-08	0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	1	0	1		2	2	2	0		0	0	136		136	135	1	1.890000	-2.734185	1	0.380000	NM_015886			109	109		525	519	1		1	0		0	0	136	0		1.000000	3.013833e-02	0	0	0	2	0	109	525
DERL1	79139	broad.mit.edu	37	8	124027758	124027758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:124027758G>A	ENST00000259512.4	-	8	985	c.685C>T	c.(685-687)Cga>Tga	p.R229*	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Nonsense_Mutation_p.R129*|DERL1_ENST00000405944.3_Nonsense_Mutation_p.R209*|DERL1_ENST00000419562.2_Nonsense_Mutation_p.R129*|DERL1_ENST00000519018.1_Nonsense_Mutation_p.R129*	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	229					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCAGCAGCTCGCCTCATGCTA	0.627																																						ENST00000259512.4	1.000000	3.000000e-02	1.000000	0.060000	0.100000	0.286319	0.100000	0.080000																										0				8						c.(685-687)Cga>Tga		derlin 1							87.0	73.0	78.0					8																	124027758		2203	4300	6503	SO:0001587	stop_gained	79139	0	0					g.chr8:124027758G>A	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.685C>T	chr8.hg19:g.124027758G>A	ENSP00000259512:p.Arg229*	1					DERL1_ENST00000405944.3_Nonsense_Mutation_p.R209*|DERL1_ENST00000523036.1_Nonsense_Mutation_p.R129*|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Nonsense_Mutation_p.R129*|DERL1_ENST00000419562.2_Nonsense_Mutation_p.R129*	p.R229*	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	1	2	3	2.309010	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)	8	985	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		B3KW41|E9PH19	Nonsense_Mutation	SNP	ENST00000259512.4	0	1	hg19	c.685C>T	CCDS6337.1	0	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943987	0.92593	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562;ENST00000519018;ENST00000523036	.	.	.	6.17	4.31	0.51392	6.17	4.31	0.51392	.	0.060136	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	11.4856	0.50352	0.0:0.1048:0.6045:0.2906	.	.	.	.	X	229;209;129;129;129	.	ENSP00000259512:R229X	R	-	1	2	2	DERL1	124096939	124096939	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.468000	0.53086	1.590000	0.49995	0.655000	0.94253	CGA	0.451861		TCGA-FB-AAQ3-01A-11D-A40W-08	0.627	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	0	0	1		2	2	2	0		0	0	66		66	66	1	1.890000	-4.609656	1	0.380000	NM_024295			6	6		403	387	0		1	1		0	0	66	0		0.960695	6.621305e-01	0	4	0	141	0	6	403
OR1L1	26737	broad.mit.edu	37	9	125424096	125424096	+	Silent	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:125424096C>A	ENST00000373686.1	+	1	252	c.252C>A	c.(250-252)atC>atA	p.I84I	OR1L1_ENST00000309623.1_Silent_p.I34I			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCCTCCCCATCTACCTTATCA	0.493																																						ENST00000373686.1	1.000000	7.500000e-01	1.000000	0.850000	0.950000	0.936594	0.950000	1.000000																										0				17						c.(250-252)atC>atA		olfactory receptor, family 1, subfamily L, member 1							114.0	100.0	105.0					9																	125424096		2203	4300	6503	SO:0001819	synonymous_variant	26737	0	0					g.chr9:125424096C>A		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.252C>A	chr9.hg19:g.125424096C>A		0					OR1L1_ENST00000309623.1_Silent_p.I34I	p.I84I			0	0	0	1.990802	Q8NH94	OR1L1_HUMAN		1	252	+			Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	1	1	hg19	c.252C>A		1																																																																																								0.363057		TCGA-FB-AAQ3-01A-11D-A40W-08	0.493	OR1L1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	84		84	84	1	1.890000	-20.000000	1	0.380000				63	63		273	268	1		1			0	0	84	0		1.000000	0	0	0	0	0	0	63	273
STAG2	10735	broad.mit.edu	37	X	123181240	123181240	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:123181240T>A	ENST00000371160.1	+	9	994	c.704T>A	c.(703-705)cTa>cAa	p.L235Q	STAG2_ENST00000218089.9_Missense_Mutation_p.L235Q|STAG2_ENST00000371157.3_Missense_Mutation_p.L235Q|STAG2_ENST00000371144.3_Missense_Mutation_p.L235Q|STAG2_ENST00000371145.3_Missense_Mutation_p.L235Q|STAG2_ENST00000354548.5_Missense_Mutation_p.L166Q|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	235					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATGTGGCACTAAATCTTAGC	0.328																																						ENST00000371160.1	0.180000	4.000000e-02	0.140000	0.060000	0.090000	0.106995	0.090000	0.100000																										0				78						c.(703-705)cTa>cAa		stromal antigen 2							85.0	80.0	82.0					X																	123181240		2203	4300	6503	SO:0001583	missense	10735	0	0					g.chrX:123181240T>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.704T>A	chrX.hg19:g.123181240T>A	ENSP00000360202:p.Leu235Gln						STAG2_ENST00000354548.5_Missense_Mutation_p.L166Q|STAG2_ENST00000371157.3_Missense_Mutation_p.L235Q|STAG2_ENST00000218089.9_Missense_Mutation_p.L235Q|STAG2_ENST00000371145.3_Missense_Mutation_p.L235Q|STAG2_ENST00000371144.3_Missense_Mutation_p.L235Q|STAG2_ENST00000469481.1_Intron	p.L235Q	NM_001282418.1	NP_001269347.1	0	1	1		Q8N3U4	STAG2_HUMAN		9	994	+			B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	0	1	hg19	c.704T>A	CCDS14607.1	0	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531408	0.85706	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.69	5.69	0.88448	5.69	5.69	0.88448	STAG (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.57725	0.2073	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	0.985;1.0	P;D	0.91635	0.891;0.999	T	0.58747	-0.7582	10	0.27082	T	0.32	-12.9753	14.8699	0.70448	0.0:0.0:0.0:1.0	.	235;235	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	Q	235;235;166;235;235;235;235	ENSP00000218089:L235Q;ENSP00000397265:L235Q;ENSP00000346555:L166Q;ENSP00000360202:L235Q;ENSP00000360199:L235Q;ENSP00000360187:L235Q;ENSP00000360186:L235Q	ENSP00000218089:L235Q	L	+	2	0	0	STAG2	123008921	123008921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.893000	0.54813	0.486000	0.48141	CTA	0.380000		TCGA-FB-AAQ3-01A-11D-A40W-08	0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	0	0	1		2	2	2	0		0	0	91		91	91	1	1.890000	-7.703427	1	0.380000	NM_006603			8	8		431	424	0		1	0		0	0	91	0		0.988795	0	0	0	0	1	0	8	431
MAGEB1	4112	broad.mit.edu	37	X	30269201	30269201	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:30269201G>A	ENST00000378981.3	+	4	912	c.591G>A	c.(589-591)agG>agA	p.R197R	MAGEB1_ENST00000397550.1_Silent_p.R197R|MAGEB1_ENST00000397548.2_Silent_p.R197R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	197	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTTTCCCAGGAATGGGCTTC	0.488																																						ENST00000378981.3	1.000000	6.400000e-01	1.000000	0.800000	0.990000	0.925744	0.990000	1.000000																										0				32						c.(589-591)agG>agA		melanoma antigen family B, 1							86.0	64.0	72.0					X																	30269201		2202	4300	6502	SO:0001819	synonymous_variant	4112	0	0					g.chrX:30269201G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.591G>A	chrX.hg19:g.30269201G>A							MAGEB1_ENST00000397548.2_Silent_p.R197R|MAGEB1_ENST00000397550.1_Silent_p.R197R	p.R197R	NM_002363.4	NP_002354.2	0	1	1		P43366	MAGB1_HUMAN		4	912	+			B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	1	1	hg19	c.591G>A	CCDS14222.1	1																																																																																								0.380000		TCGA-FB-AAQ3-01A-11D-A40W-08	0.488	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	1	0	1		2	2	2	0		0	0	26		26	26	1	1.890000	-20.000000	1	0.380000	NM_002363			20	19		86	86	1		1			0	0	26	0		0.999997	0	0	0	0	0	0	20	86
PRAF2	11230	broad.mit.edu	37	X	48931491	48931491	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:48931491G>A	ENST00000376390.4	-	1	239	c.156C>T	c.(154-156)ttC>ttT	p.F52F	WDR45_ENST00000553851.1_Intron|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000491199.1_5'UTR|PRAF2_ENST00000376386.3_Silent_p.F52F	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	52					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						GGCCGATGCCGAAGCAGAGAA	0.657																																						ENST00000376390.4	1.000000	9.500000e-01	1.000000	0.990000	0.990000	0.997428	0.990000	1.000000																										0				8						c.(154-156)ttC>ttT		PRA1 domain family, member 2							76.0	64.0	68.0					X																	48931491		2203	4300	6503	SO:0001819	synonymous_variant	11230	3	121410	32				g.chrX:48931491G>A	BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.156C>T	chrX.hg19:g.48931491G>A							PRAF2_ENST00000376386.3_Silent_p.F52F|WDR45_ENST00000553851.1_Intron|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000491199.1_5'UTR	p.F52F	NM_007213.1	NP_009144.1	0	1	1		O60831	PRAF2_HUMAN		1	239	-			B2RD20	Silent	SNP	ENST00000376390.4	1	1	hg19	c.156C>T	CCDS14317.1	1																																																																																								0.380000		TCGA-FB-AAQ3-01A-11D-A40W-08	0.657	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	1	0	1		2	2	2	0		0	0	54		54	54	1	1.890000	-20.000000	1	0.380000	NM_007213			61	59		204	201	0		1	0		0	0	54	0		1.000000	9.593851e-01	0	0	0	20	0	61	204
MCF2	4168	broad.mit.edu	37	X	138678769	138678769	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:138678769C>T	ENST00000370576.4	-	19	2425	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	MCF2_ENST00000370578.4_Missense_Mutation_p.R884H|MCF2_ENST00000520602.1_Missense_Mutation_p.R799H|MCF2_ENST00000536274.1_Missense_Mutation_p.R700H|MCF2_ENST00000338585.6_Missense_Mutation_p.R755H|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000519895.1_Missense_Mutation_p.R815H|MCF2_ENST00000414978.1_Missense_Mutation_p.R799H|MCF2_ENST00000370573.4_Missense_Mutation_p.R739H	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	739	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACTTTCAACACGCCTTTTGCA	0.383																																						ENST00000370576.4	1.000000	7.000000e-01	0.980000	0.790000	0.880000	0.883643	0.880000	1.000000																										0				62						c.(2215-2217)cGt>cAt		MCF.2 cell line derived transforming sequence							107.0	88.0	94.0					X																	138678769		2203	4300	6503	SO:0001583	missense	4168	1	121364	37				g.chrX:138678769C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2216G>A	chrX.hg19:g.138678769C>T	ENSP00000359608:p.Arg739His						AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Missense_Mutation_p.R739H|MCF2_ENST00000414978.1_Missense_Mutation_p.R799H|MCF2_ENST00000338585.6_Missense_Mutation_p.R755H|MCF2_ENST00000519895.1_Missense_Mutation_p.R815H|MCF2_ENST00000536274.1_Missense_Mutation_p.R700H|MCF2_ENST00000370578.4_Missense_Mutation_p.R884H|MCF2_ENST00000520602.1_Missense_Mutation_p.R799H	p.R739H	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	0	1	1		P10911	MCF2_HUMAN		19	2425	-	Acute lymphoblastic leukemia(192;0.000127)		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	1	1	hg19	c.2216G>A	CCDS14667.1	1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948071	0.92593	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T;T	0.56611	0.99;0.88;0.79;0.99;0.99;0.45;1.05;0.9;0.95	5.67	5.67	0.87782	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	M	0.93197	3.39	0.48830	D	0.999716	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;P;P;P;P;D;P	0.87578	0.834;0.994;0.886;0.834;0.886;0.834;0.998;0.834	D	0.85413	0.1138	10	0.66056	D	0.02	.	17.6181	0.88073	0.0:1.0:0.0:0.0	.	815;884;700;739;739;884;755;739	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	H	799;739;700;884;799;342;815;739;755	ENSP00000427745:R799H;ENSP00000359608:R739H;ENSP00000438155:R700H;ENSP00000359610:R884H;ENSP00000397055:R799H;ENSP00000405848:R342H;ENSP00000430276:R815H;ENSP00000359605:R739H;ENSP00000342204:R755H	ENSP00000342204:R755H	R	-	2	0	0	MCF2	138506435	138506435	1.000000	0.71417	0.719000	0.30619	0.940000	0.58332	6.066000	0.71185	2.376000	0.81061	0.600000	0.82982	CGT	0.380000		TCGA-FB-AAQ3-01A-11D-A40W-08	0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	1	0	1		2	2	2	0		0	0	97		97	97	1	1.890000	-20.000000	1	0.380000	NM_005369			74	72		366	360	1		1			0	0	97	0		1.000000	0	0	0	0	0	0	74	366
