#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AGRN	375790	broad.mit.edu	37	1	985677	985677	+	Silent	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:985677G>C	ENST00000379370.2	+	28	4994	c.4944G>C	c.(4942-4944)ctG>ctC	p.L1648L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1648	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACCTGGAGCTGAGAGGCCTGC	0.687																																						uc001ack.1		NA																	0				central_nervous_system(2)|breast(1)	3						c.(4942-4944)CTG>CTC		agrin precursor							46.0	54.0	51.0					1																	985677		2202	4299	6501	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:985677G>C	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4944G>C	1.37:g.985677G>C							p.L1648L	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	28	4994	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1648			Laminin G-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.4944G>C	CCDS30551.1																																																																																				0.687	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		18	147	0	0	0	0	18	147				
DVL1	1855	broad.mit.edu	37	1	1277124	1277124	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:1277124G>A	ENST00000378888.5	-	5	812	c.528C>T	c.(526-528)gaC>gaT	p.D176D	DVL1_ENST00000378891.5_Silent_p.D176D			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	176					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGACGCGCTGTCTGGGGGCA	0.677																																						uc001aer.3		NA																	0					0						c.(526-528)GAC>GAT		dishevelled 1							47.0	37.0	41.0					1																	1277124		2197	4294	6491	SO:0001819	synonymous_variant	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1277124G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.528C>T	1.37:g.1277124G>A						DVL1_uc002quu.2_5'Flank|DVL1_uc009vka.2_5'Flank|DVL1_uc001aeu.1_5'UTR	p.D176D	NM_004421	NP_004412	O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	5	575	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	176					Q5TA33|Q5TA35	Silent	SNP	ENST00000378888.5	37	c.528C>T																																																																																					0.677	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		9	39	0	0	0	0	9	39				
TMEM82	388595	broad.mit.edu	37	1	16074093	16074093	+	Missense_Mutation	SNP	C	C	T	rs373663615		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:16074093C>T	ENST00000375782.1	+	6	1136	c.998C>T	c.(997-999)tCg>tTg	p.S333L	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	333						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGCCCTCGGCACCCCAG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17540	0.0		0.001	False		,,,				2504	0.0					uc001axc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(997-999)TCG>TTG		transmembrane protein 82		C	LEU/SER	0,4406		0,0,2203	88.0	87.0	88.0		998	2.8	0.0	1		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM82	NM_001013641.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	333/344	16074093	1,13005	2203	4300	6503	SO:0001583	missense	388595					integral to membrane		g.chr1:16074093C>T		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.998C>T	1.37:g.16074093C>T	ENSP00000364938:p.Ser333Leu						p.S333L	NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	6	1136	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	333					B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	37	c.998C>T	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824932	0.32237	0.0	1.16E-4	ENSG00000162460	ENST00000375782	T	0.46819	0.86	3.78	2.77	0.32553	.	0.791289	0.10666	N	0.648085	T	0.38188	0.1031	M	0.65975	2.015	0.09310	N	1	P	0.42871	0.792	B	0.28305	0.088	T	0.42616	-0.9441	10	0.62326	D	0.03	-1.3718	7.5531	0.27808	0.2775:0.7225:0.0:0.0	.	333	A0PJX8	TMM82_HUMAN	L	333	ENSP00000364938:S333L	ENSP00000364938:S333L	S	+	2	0	TMEM82	15946680	0.001000	0.12720	0.004000	0.12327	0.007000	0.05969	1.064000	0.30579	1.954000	0.56735	0.467000	0.42956	TCG		0.607	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641		12	133	0	0	0	0	12	133				
ECE1	1889	broad.mit.edu	37	1	21560052	21560052	+	Splice_Site	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:21560052G>A	ENST00000374893.6	-	14	1743	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	ECE1_ENST00000415912.2_Splice_Site_p.Q541*|ECE1_ENST00000264205.6_Splice_Site_p.Q554*|ECE1_ENST00000357071.4_Splice_Site_p.Q545*|ECE1_ENST00000436918.2_Splice_Site_p.Q557*	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	557					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGAACTCACTGATCTCTGTTG	0.577																																						uc001bek.2		NA																	0				ovary(2)|skin(1)	3						c.(1669-1671)CAG>TAG		endothelin converting enzyme 1 isoform 1							42.0	47.0	45.0					1																	21560052		2203	4300	6503	SO:0001630	splice_region_variant	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21560052G>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1670+1C>T	1.37:g.21560052G>A						ECE1_uc001bem.2_Nonsense_Mutation_p.Q541*|ECE1_uc001bej.2_Nonsense_Mutation_p.Q545*|ECE1_uc001bei.2_Nonsense_Mutation_p.Q554*|ECE1_uc010odl.1_Nonsense_Mutation_p.Q557*|ECE1_uc009vqa.1_Nonsense_Mutation_p.Q557*	p.Q557*	NM_001397	NP_001388	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	14	1744	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	557			Extracellular (Potential).		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Nonsense_Mutation	SNP	ENST00000374893.6	37	c.1669C>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	36	5.921397	0.97105	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	.	.	.	5.36	5.36	0.76844	.	0.054782	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-24.8255	17.6527	0.88169	0.0:0.0:1.0:0.0	.	.	.	.	X	541;545;557;557;554	.	ENSP00000264205:Q554X	Q	-	1	0	ECE1	21432639	1.000000	0.71417	0.986000	0.45419	0.961000	0.63080	7.540000	0.82074	2.527000	0.85204	0.655000	0.94253	CAG		0.577	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397	Nonsense_Mutation	10	55	0	0	0	0	10	55				
S100PBP	64766	broad.mit.edu	37	1	33292423	33292423	+	Silent	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:33292423C>A	ENST00000373475.5	+	3	977	c.723C>A	c.(721-723)atC>atA	p.I241I	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.I241I|S100PBP_ENST00000398243.3_Silent_p.I241I	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCTCTCGGATCTCAGACCATT	0.428																																						uc001bvz.2		NA																	0					0						c.(721-723)ATC>ATA		S100P binding protein isoform a							63.0	64.0	64.0					1																	33292423		2203	4300	6503	SO:0001819	synonymous_variant	64766					nucleus	calcium-dependent protein binding	g.chr1:33292423C>A	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.723C>A	1.37:g.33292423C>A						S100PBP_uc001bwa.1_Silent_p.I241I|S100PBP_uc001bwb.1_Silent_p.I241I|S100PBP_uc001bwc.2_Silent_p.I241I|S100PBP_uc001bwd.2_RNA	p.I241I	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			3	1000	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	241						Silent	SNP	ENST00000373475.5	37	c.723C>A	CCDS30666.1																																																																																				0.428	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		16	74	1	0	2.23e-06	2.48e-06	16	74				
MACF1	23499	broad.mit.edu	37	1	39945527	39945527	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:39945527C>G	ENST00000372915.3	+	95	21713	c.21626C>G	c.(21625-21627)tCc>tGc	p.S7209C	MACF1_ENST00000289893.4_Missense_Mutation_p.S5759C|MACF1_ENST00000539005.1_Missense_Mutation_p.S5121C|MACF1_ENST00000317713.7_Missense_Mutation_p.S5251C|MACF1_ENST00000567887.1_Missense_Mutation_p.S7376C|MACF1_ENST00000564288.1_Missense_Mutation_p.S7339C|MACF1_ENST00000545844.1_Missense_Mutation_p.S5251C|MACF1_ENST00000361689.2_Missense_Mutation_p.S5251C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7209	C-terminal tail. {ECO:0000250}.				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)			GAGGGAGCATCCCAGGGAATG	0.488																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(17275-17277)TCC>TGC		microfilament and actin filament cross-linker							80.0	72.0	75.0					1																	39945527		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39945527C>G	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.21626C>G	1.37:g.39945527C>G	ENSP00000362006:p.Ser7209Cys					MACF1_uc010ois.1_Missense_Mutation_p.S5251C|MACF1_uc001cde.1_Missense_Mutation_p.S128C|MACF1_uc001cdf.1_Missense_Mutation_p.S134C|MACF1_uc001cdg.2_Missense_Mutation_p.S42C|MACF1_uc001cdh.2_Missense_Mutation_p.S42C	p.S5759C	NM_033044	NP_149033	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)		62	17407	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7209			C-terminal tail (By similarity).		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.17276C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.95|17.95|17.95	3.514767|3.514767|3.514767	0.64634|0.64634|0.64634	.|.|.	.|.|.	ENSG00000127603|ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000360115;ENST00000442046|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218;ENST00000422234	.|.|T;T;T;T;T;T	.|.|0.69175	.|.|-0.35;-0.26;-0.35;-0.38;-0.18;0.82	5.91|5.91|5.91	5.91|5.91|5.91	0.95273|0.95273|0.95273	.|.|.	.|.|0.000000	.|.|0.56097	.|.|D	.|.|0.000021	T|T|T	0.74943|0.74943|0.74943	0.3783|0.3783|0.3783	L|L|L	0.39245|0.39245|0.39245	1.2|1.2|1.2	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;B	.|.|0.76494	.|.|0.999;0.998;0.999;0.999;0.999;0.029	.|.|D;D;D;D;D;B	.|.|0.80764	.|.|0.98;0.917;0.971;0.994;0.983;0.033	T|T|T	0.71912|0.71912|0.71912	-0.4449|-0.4449|-0.4449	5|5|9	.|.|.	.|.|.	.|.|.	.|.|.	15.7433|15.7433|15.7433	0.77920|0.77920|0.77920	0.0:0.8643:0.1357:0.0|0.0:0.8643:0.1357:0.0|0.0:0.8643:0.1357:0.0	.|.|.	.|.|7209;5251;4254;42;5759;151	.|.|Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7	.|.|MACF1_HUMAN;.;.;.;MACF4_HUMAN;.	M|A|C	4254;238|364;152|5251;7209;5251;5251;5121;5759;128;113	.|.|ENSP00000439537:S5251C;ENSP00000362006:S7209C;ENSP00000354573:S5251C;ENSP00000313438:S5251C;ENSP00000444364:S5121C;ENSP00000289893:S5759C	.|.|.	I|P|S	+|+|+	3|1|2	3|0|0	MACF1|MACF1|MACF1	39718114|39718114|39718114	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.425000|7.425000|7.425000	0.80255|0.80255|0.80255	2.802000|2.802000|2.802000	0.96397|0.96397|0.96397	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CCC|TCC		0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	93	0	0	0	0	4	93				
RAD54L	8438	broad.mit.edu	37	1	46736347	46736347	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:46736347C>G	ENST00000371975.4	+	10	1733	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	RAD54L_ENST00000442598.1_Missense_Mutation_p.F353L|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	353					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCCATGAATTCAAGAAGCATT	0.498								Direct reversal of damage;Homologous recombination																														uc009vye.2		NA																	0				ovary(2)|skin(1)	3						c.(1057-1059)TTC>TTG	Direct_reversal_of_damage|Homologous_recombination	RAD54-like protein							135.0	122.0	126.0					1																	46736347		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46736347C>G	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1059C>G	1.37:g.46736347C>G	ENSP00000361043:p.Phe353Leu					RAD54L_uc001cpl.2_Missense_Mutation_p.F353L|RAD54L_uc001cpm.1_Missense_Mutation_p.F173L	p.F353L	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	11	1173	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	353					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1059C>G	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343325	0.82022	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.96168	-3.93;-3.93	5.71	5.71	0.89125	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.982	D	0.98296	1.0516	10	0.87932	D	0	-18.0018	10.8907	0.46994	0.0:0.8867:0.0:0.1133	.	173;353	G3V1N0;Q92698	.;RAD54_HUMAN	L	353;353;173	ENSP00000396113:F353L;ENSP00000361043:F353L	ENSP00000361043:F353L	F	+	3	2	RAD54L	46508934	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.225000	0.32551	2.691000	0.91804	0.563000	0.77884	TTC		0.498	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		10	149	0	0	0	0	10	149				
STIL	6491	broad.mit.edu	37	1	47737808	47737808	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:47737808C>T	ENST00000360380.3	-	14	2686	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	STIL_ENST00000243182.6_Missense_Mutation_p.E775K|STIL_ENST00000371877.3_Missense_Mutation_p.E775K|STIL_ENST00000396221.2_Missense_Mutation_p.E775K|STIL_ENST00000337817.5_Missense_Mutation_p.E775K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	775	PIN1-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GACTGTGCTTCCACAGAAACC	0.433																																						uc001crc.1		NA																	0				lung(2)|skin(1)	3						c.(2323-2325)GAA>AAA		SCL/TAL1 interrupting locus isoform 2							103.0	86.0	92.0					1																	47737808		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47737808C>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2323G>A	1.37:g.47737808C>T	ENSP00000353544:p.Glu775Lys					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.E728K|STIL_uc010omo.1_Missense_Mutation_p.E775K|STIL_uc001crd.1_Missense_Mutation_p.E775K|STIL_uc001cre.1_Missense_Mutation_p.E775K|STIL_uc001crf.1_Missense_Mutation_p.E388K|STIL_uc001crg.1_Missense_Mutation_p.E728K	p.E775K	NM_003035	NP_003026	Q15468	STIL_HUMAN			13	2478	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	775			PIN1-binding (By similarity).		Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.2323G>A	CCDS548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.372836|4.372836	0.82573|0.82573	.|.	.|.	ENSG00000123473|ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371874;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475|ENST00000436811	T;T;T;T;T;T|.	0.59083|.	1.68;1.68;1.67;1.67;1.68;0.29|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.296429|.	0.29466|.	N|.	0.012080|.	T|T	0.73063|0.73063	0.3539|0.3539	M|M	0.62723|0.62723	1.935|1.935	0.47819|0.47819	D|D	0.999526|0.999526	P;P;P;P;P|.	0.52842|.	0.956;0.956;0.956;0.956;0.956|.	B;P;B;P;P|.	0.47044|.	0.438;0.535;0.438;0.461;0.461|.	T|T	0.70550|0.70550	-0.4841|-0.4841	10|5	0.54805|.	T|.	0.06|.	-13.6215|-13.6215	17.7978|17.7978	0.88578|0.88578	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	775;728;775;775;775|.	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468|.	.;.;.;.;STIL_HUMAN|.	K|E	775;775;114;775;775;775;728|114	ENSP00000353544:E775K;ENSP00000337367:E775K;ENSP00000360944:E775K;ENSP00000379523:E775K;ENSP00000243182:E775K;ENSP00000411664:E728K|.	ENSP00000243182:E775K|.	E|G	-|-	1|2	0|0	STIL|STIL	47510395|47510395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.684000|0.684000	0.39900|0.39900	5.287000|5.287000	0.65645|0.65645	2.658000|2.658000	0.90341|0.90341	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.433	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		4	79	0	0	0	0	4	79				
ANGPTL3	27329	broad.mit.edu	37	1	63063358	63063358	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:63063358G>A	ENST00000371129.3	+	1	201	c.121G>A	c.(121-123)Gac>Aac	p.D41N	DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	41					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TGCTATGTTAGACGATGTAAA	0.348																																						uc001das.1		NA																	0					0	GRCh37	CM090077	ANGPTL3	M		c.(121-123)GAC>AAC		angiopoietin-like 3 precursor							73.0	71.0	72.0					1																	63063358		2203	4299	6502	SO:0001583	missense	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63063358G>A	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.121G>A	1.37:g.63063358G>A	ENSP00000360170:p.Asp41Asn					DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	p.D41N	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN			1	172	+			41					A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	37	c.121G>A	CCDS622.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507470	0.85282	.	.	ENSG00000132855	ENST00000371129	T	0.74947	-0.89	6.02	5.11	0.69529	.	0.046550	0.85682	N	0.000000	T	0.71443	0.3340	M	0.77313	2.365	0.58432	D	0.999999	P	0.48503	0.911	P	0.48627	0.584	T	0.75414	-0.3326	10	0.49607	T	0.09	.	11.3635	0.49657	0.0675:0.1269:0.8056:0.0	.	41	Q9Y5C1	ANGL3_HUMAN	N	41	ENSP00000360170:D41N	ENSP00000360170:D41N	D	+	1	0	ANGPTL3	62835946	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.358000	0.73055	1.553000	0.49476	0.650000	0.86243	GAC		0.348	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		16	95	0	0	0	0	16	95				
PDE4B	5142	broad.mit.edu	37	1	66827468	66827468	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:66827468C>A	ENST00000329654.4	+	10	1199	c.1012C>A	c.(1012-1014)Ctg>Atg	p.L338M	PDE4B_ENST00000480109.2_Missense_Mutation_p.L105M|PDE4B_ENST00000371049.3_Missense_Mutation_p.L338M|PDE4B_ENST00000423207.2_Missense_Mutation_p.L323M|PDE4B_ENST00000371045.5_Missense_Mutation_p.L166M	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	338					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGAAGATCACCTGGCCAAGGT	0.408																																						uc001dcn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1012-1014)CTG>ATG		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						123.0	103.0	110.0					1																	66827468		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66827468C>A	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1012C>A	1.37:g.66827468C>A	ENSP00000332116:p.Leu338Met					PDE4B_uc009war.2_Missense_Mutation_p.L246M|PDE4B_uc001dco.2_Missense_Mutation_p.L338M|PDE4B_uc001dcp.2_Missense_Mutation_p.L323M|PDE4B_uc001dcq.2_Missense_Mutation_p.L166M|PDE4B_uc009was.2_Missense_Mutation_p.L105M	p.L338M	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			10	1203	+			338					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.1012C>A	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761111	0.69763	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000528771;ENST00000371045;ENST00000531025;ENST00000526197;ENST00000480109	T;T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.09;-0.57;0.98;0.95;-0.57	5.96	2.7	0.31948	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.129707	0.53938	D	0.000052	T	0.80834	0.4699	M	0.92459	3.31	0.58432	D	0.999998	B;D;D;D;D	0.89917	0.348;1.0;0.998;1.0;1.0	B;D;D;D;D	0.87578	0.324;0.998;0.994;0.995;0.995	T	0.81479	-0.0914	10	0.87932	D	0	.	6.8301	0.23905	0.0:0.6445:0.1223:0.2332	.	105;323;208;328;338	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	M	338;338;338;323;119;166;119;119;105	ENSP00000332116:L338M;ENSP00000342637:L338M;ENSP00000360088:L338M;ENSP00000392947:L323M;ENSP00000431909:L119M;ENSP00000360084:L166M;ENSP00000437249:L119M;ENSP00000436104:L119M;ENSP00000432592:L105M	ENSP00000332116:L338M	L	+	1	2	PDE4B	66600056	0.996000	0.38824	0.996000	0.52242	0.989000	0.77384	1.549000	0.36212	0.642000	0.30620	0.655000	0.94253	CTG		0.408	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		4	72	1	0	0.00909568	0.00946974	4	72				
LRRC7	57554	broad.mit.edu	37	1	70504158	70504158	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:70504158C>T	ENST00000035383.5	+	19	2567	c.2537C>T	c.(2536-2538)aCc>aTc	p.T846I	LRRC7_ENST00000310961.5_Missense_Mutation_p.T851I|LRRC7_ENST00000415775.2_Missense_Mutation_p.T130I	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	846						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGAATTGGACCAGAACCCCT	0.488																																						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2536-2538)ACC>ATC		leucine rich repeat containing 7							72.0	81.0	78.0					1																	70504158		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504158C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2537C>T	1.37:g.70504158C>T	ENSP00000035383:p.Thr846Ile					LRRC7_uc009wbg.2_Missense_Mutation_p.T130I|LRRC7_uc001deq.2_Missense_Mutation_p.T87I	p.T846I	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2567	+			846					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2537C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982280	0.74474	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.54479	0.57;0.67;1.78	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	L	0.53249	1.67	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.991	T	0.58194	-0.7679	10	0.38643	T	0.18	.	18.9808	0.92755	0.0:1.0:0.0:0.0	.	130;846;846	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	I	851;846;130;669	ENSP00000309245:T851I;ENSP00000035383:T846I;ENSP00000394867:T130I	ENSP00000035383:T846I	T	+	2	0	LRRC7	70276746	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.466000	0.80914	2.729000	0.93468	0.467000	0.42956	ACC		0.488	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		13	150	0	0	0	0	13	150				
EXTL2	2135	broad.mit.edu	37	1	101339860	101339860	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:101339860C>A	ENST00000370114.3	-	5	2067	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	EXTL2_ENST00000370113.3_Missense_Mutation_p.V211L|EXTL2_ENST00000535414.1_Missense_Mutation_p.V198L	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	211					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CCAATCAGCACCATAGAGTAC	0.413																																						uc001dtk.1		NA																	0				skin(1)	1						c.(631-633)GTG>TTG		exostoses-like 2							48.0	46.0	46.0					1																	101339860		2203	4299	6502	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339860C>A	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.631G>T	1.37:g.101339860C>A	ENSP00000359132:p.Val211Leu					EXTL2_uc001dtl.1_Missense_Mutation_p.V211L|EXTL2_uc010ouk.1_Missense_Mutation_p.V198L|EXTL2_uc001dtm.1_Missense_Mutation_p.V210L	p.V211L	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	968	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	211			Lumenal (Potential).		B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.631G>T	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993475	0.54041	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.88	5.88	0.94601	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.116894	0.64402	D	0.000018	D	0.87728	0.6250	M	0.79693	2.465	0.58432	D	0.999995	B;B	0.25743	0.067;0.133	B;B	0.30105	0.091;0.111	D	0.86980	0.2103	10	0.87932	D	0	-23.3921	10.5793	0.45246	0.0:0.8573:0.0:0.1427	.	210;211	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	L	211;211;198;219	ENSP00000359132:V211L;ENSP00000359131:V211L;ENSP00000444385:V198L;ENSP00000403363:V219L	ENSP00000359131:V211L	V	-	1	0	EXTL2	101112448	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.578000	0.36525	2.790000	0.95986	0.591000	0.81541	GTG		0.413	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		10	94	1	0	2.18e-05	2.4e-05	10	94				
DENND2D	79961	broad.mit.edu	37	1	111738609	111738609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:111738609G>A	ENST00000357640.4	-	6	803	c.574C>T	c.(574-576)Cga>Tga	p.R192*	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Nonsense_Mutation_p.R189*	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	192	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GCTGCCTCTCGGAGGCCCTGC	0.567																																						uc001eak.1		NA																	0				ovary(1)	1						c.(574-576)CGA>TGA		DENN/MADD domain containing 2D							96.0	89.0	91.0					1																	111738609		2203	4300	6503	SO:0001587	stop_gained	79961							g.chr1:111738609G>A		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.574C>T	1.37:g.111738609G>A	ENSP00000350266:p.Arg192*					DENND2D_uc001eal.1_Nonsense_Mutation_p.R189*	p.R192*	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	6	774	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	192			DENN.		Q5T5V6|Q9BSU0	Nonsense_Mutation	SNP	ENST00000357640.4	37	c.574C>T	CCDS831.1	.	.	.	.	.	.	.	.	.	.	G	37	6.270036	0.97431	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-7.7883	11.5234	0.50565	0.0:0.0:0.8209:0.1791	.	.	.	.	X	192;189	.	ENSP00000350266:R192X	R	-	1	2	DENND2D	111540132	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	4.097000	0.57741	2.476000	0.83614	0.561000	0.74099	CGA		0.567	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		11	113	0	0	0	0	11	113				
UBAP2L	9898	broad.mit.edu	37	1	154227358	154227358	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:154227358C>T	ENST00000361546.2	+	15	1943	c.1901C>T	c.(1900-1902)tCt>tTt	p.S634F	AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S634F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S645F|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S634F			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	634					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.S634C(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCACACAATCTGTTGAAGGT	0.398																																						uc001fep.3		NA																	1	Substitution - Missense(1)		NS(1)	ovary(1)|central_nervous_system(1)	2						c.(1900-1902)TCT>TTT		ubiquitin associated protein 2-like isoform a							169.0	164.0	166.0					1																	154227358		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154227358C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1901C>T	1.37:g.154227358C>T	ENSP00000355343:p.Ser634Phe					UBAP2L_uc009wot.2_Missense_Mutation_p.S634F|UBAP2L_uc010pek.1_Missense_Mutation_p.S626F|UBAP2L_uc010pel.1_Missense_Mutation_p.S644F|UBAP2L_uc010pen.1_Missense_Mutation_p.S548F|UBAP2L_uc001feq.2_5'Flank|UBAP2L_uc001fer.2_5'Flank	p.S634F	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		16	2068	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		634					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.1901C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727955	0.89390	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.15139	2.47;2.45;2.48;2.45	5.84	5.84	0.93424	.	0.137650	0.48286	D	0.000182	T	0.16428	0.0395	L	0.43923	1.385	0.54753	D	0.999984	P;P;P;P;B	0.45011	0.769;0.848;0.729;0.729;0.38	B;P;B;B;B	0.46718	0.293;0.525;0.431;0.431;0.332	T	0.00435	-1.1741	10	0.66056	D	0.02	-5.6882	19.1272	0.93390	0.0:1.0:0.0:0.0	.	548;645;627;634;634	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	F	634;634;130;130;645;634	ENSP00000345308:S634F;ENSP00000389445:S634F;ENSP00000271877:S645F;ENSP00000355343:S634F	ENSP00000271877:S645F	S	+	2	0	UBAP2L	152493982	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.494000	0.73661	2.764000	0.94973	0.655000	0.94253	TCT		0.398	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		11	96	0	0	0	0	11	96				
MRPL24	79590	broad.mit.edu	37	1	156708205	156708205	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:156708205G>A	ENST00000361531.2	-	3	345	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	70	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCCGGCATCCTTGCC	0.567																																						uc001fpw.1		NA																	0					0						c.(208-210)GCC>GTC		mitochondrial ribosomal protein L24 precursor							211.0	194.0	200.0					1																	156708205		2203	4300	6503	SO:0001583	missense	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708205G>A	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.209C>T	1.37:g.156708205G>A	ENSP00000354525:p.Ala70Val					MRPL24_uc001fpx.1_Missense_Mutation_p.A70V	p.A70V	NM_024540	NP_078816	Q96A35	RM24_HUMAN			3	348	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		70			KOW.		D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	c.209C>T	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458233	0.63401	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846	.	.	.	5.57	4.6	0.57074	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1);	0.109682	0.64402	D	0.000007	T	0.40322	0.1112	M	0.67397	2.05	0.41365	D	0.987454	P	0.39352	0.669	B	0.31016	0.123	T	0.55866	-0.8073	9	0.72032	D	0.01	-17.5247	12.9383	0.58327	0.0:0.0:0.8372:0.1628	.	70	Q96A35	RM24_HUMAN	V	70	.	ENSP00000354525:A70V	A	-	2	0	MRPL24	154974829	0.996000	0.38824	0.984000	0.44739	0.912000	0.54170	2.423000	0.44705	2.633000	0.89246	0.650000	0.86243	GCC		0.567	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		7	460	0	0	0	0	7	460				
CEP350	9857	broad.mit.edu	37	1	180064865	180064865	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:180064865C>G	ENST00000367607.3	+	35	9137	c.8719C>G	c.(8719-8721)Caa>Gaa	p.Q2907E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2907					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGAGTAACCCAACAACCATG	0.383																																						uc001gnt.2		NA																	0				ovary(4)	4						c.(8719-8721)CAA>GAA		centrosome-associated protein 350							107.0	100.0	103.0					1																	180064865		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180064865C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8719C>G	1.37:g.180064865C>G	ENSP00000356579:p.Gln2907Glu					CEP350_uc009wxl.2_Missense_Mutation_p.Q2906E|CEP350_uc001gnv.2_Missense_Mutation_p.Q1042E|CEP350_uc001gnw.1_Missense_Mutation_p.Q664E|CEP350_uc001gnx.1_Missense_Mutation_p.Q664E	p.Q2907E	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			35	9102	+			2907					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.8719C>G	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.015|4.015	0.000175|0.000175	0.07819|0.07819	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607;ENST00000417046	.|T	.|0.55760	.|0.5	5.98|5.98	4.06|4.06	0.47325|0.47325	.|.	.|0.737759	.|0.11381	.|N	.|0.569805	T|T	0.36358|0.36358	0.0964|0.0964	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.19484|0.19484	-1.0304|-1.0304	5|9	.|.	.|.	.|.	.|.	11.7515|11.7515	0.51852|0.51852	0.3223:0.568:0.1097:0.0|0.3223:0.568:0.1097:0.0	.|.	.|2907;2907	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	R|E	1081|2907;371	.|ENSP00000356579:Q2907E	.|.	P|Q	+|+	2|1	0|0	CEP350|CEP350	178331488|178331488	0.000000|0.000000	0.05858|0.05858	0.019000|0.019000	0.16419|0.16419	0.522000|0.522000	0.34438|0.34438	0.002000|0.002000	0.13061|0.13061	0.817000|0.817000	0.34445|0.34445	0.585000|0.585000	0.79938|0.79938	CCA|CAA		0.383	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		8	89	0	0	0	0	8	89				
KIAA1614	57710	broad.mit.edu	37	1	180885439	180885439	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:180885439C>A	ENST00000367588.4	+	2	255	c.200C>A	c.(199-201)cCc>cAc	p.P67H		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	67										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTGATGGCCCCCCAGCCTCCC	0.602																																						uc001gok.2		NA																	0				ovary(3)|skin(1)	4						c.(199-201)CCC>CAC		hypothetical protein LOC57710							35.0	40.0	38.0					1																	180885439		1904	4114	6018	SO:0001583	missense	57710							g.chr1:180885439C>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.200C>A	1.37:g.180885439C>A	ENSP00000356560:p.Pro67His						p.P67H	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			2	267	+			67					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.200C>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804243	0.50315	.	.	ENSG00000135835	ENST00000367588	T	0.06218	3.33	5.08	4.17	0.49024	.	0.424638	0.17944	N	0.156744	T	0.10981	0.0268	N	0.24115	0.695	0.27187	N	0.960506	D	0.69078	0.997	P	0.59761	0.863	T	0.06250	-1.0837	10	0.87932	D	0	-12.5572	11.0326	0.47783	0.0:0.9128:0.0:0.0872	.	67	Q5VZ46	K1614_HUMAN	H	67	ENSP00000356560:P67H	ENSP00000356560:P67H	P	+	2	0	KIAA1614	179152062	0.000000	0.05858	0.025000	0.17156	0.039000	0.13416	0.253000	0.18296	1.367000	0.46095	-0.137000	0.14449	CCC		0.602	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		8	68	1	0	0.000157383	0.000170883	8	68				
NCF2	4688	broad.mit.edu	37	1	183532571	183532571	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:183532571C>T	ENST00000367535.3	-	12	1427	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Silent_p.L311L|NCF2_ENST00000367536.1_Silent_p.L392L|NCF2_ENST00000413720.1_Silent_p.L347L	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	392	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GAGCTCACCTCAGCTTAGTGT	0.557																																						uc001gqj.3		NA																	0				ovary(3)	3						c.(1174-1176)CTG>CTA		neutrophil cytosolic factor 2							136.0	142.0	140.0					1																	183532571		2203	4300	6503	SO:0001819	synonymous_variant	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532571C>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1176G>A	1.37:g.183532571C>T						NCF2_uc010pod.1_Silent_p.L347L|NCF2_uc010poe.1_Silent_p.L311L|NCF2_uc001gqk.3_Silent_p.L392L	p.L392L	NM_000433	NP_000424	P19878	NCF2_HUMAN			12	1451	-			392			OPR.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	ENST00000367535.3	37	c.1176G>A	CCDS1356.1																																																																																				0.557	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		20	339	0	0	0	0	20	339				
ADORA1	134	broad.mit.edu	37	1	203134708	203134708	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:203134708G>T	ENST00000367236.4	+	3	1582	c.661G>T	c.(661-663)Gac>Tac	p.D221Y	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.D221Y|ADORA1_ENST00000309502.3_Missense_Mutation_p.D221Y|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	221					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CTCCTCCGGCGACCCGCAGAA	0.582																																						uc001gze.1		NA																	0				large_intestine(1)	1						c.(661-663)GAC>TAC		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						131.0	116.0	121.0					1																	203134708		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134708G>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.661G>T	1.37:g.203134708G>T	ENSP00000356205:p.Asp221Tyr					FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.D221Y|ADORA1_uc010pqg.1_Missense_Mutation_p.D153Y|ADORA1_uc009xak.1_Missense_Mutation_p.R146L|ADORA1_uc010pqh.1_Missense_Mutation_p.D254Y	p.D221Y	NM_000674	NP_000665	P30542	AA1R_HUMAN			4	1094	+			221			Cytoplasmic (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.661G>T	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914602	0.72983	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.72615	-0.67;-0.67;-0.67	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.085474	0.85682	D	0.000000	D	0.87354	0.6156	M	0.88031	2.925	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.972	D	0.89161	0.3530	10	0.72032	D	0.01	-45.8802	19.4035	0.94640	0.0:0.0:1.0:0.0	.	254;153;221	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	Y	221	ENSP00000308549:D221Y;ENSP00000356205:D221Y;ENSP00000338435:D221Y	ENSP00000308549:D221Y	D	+	1	0	ADORA1	201401331	1.000000	0.71417	0.992000	0.48379	0.706000	0.40770	7.948000	0.87774	2.586000	0.87340	0.561000	0.74099	GAC		0.582	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		17	157	1	0	2.38e-13	2.7e-13	17	157				
FMOD	2331	broad.mit.edu	37	1	203311480	203311480	+	Silent	SNP	G	G	A	rs141336017	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:203311480G>A	ENST00000354955.4	-	3	1585	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	FMOD_ENST00000493296.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	374					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCAGATCTCGATGAGGCTGG	0.637											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gzr.2		NA																	0				ovary(2)|breast(1)	3						c.(1120-1122)ATC>ATT		fibromodulin precursor							34.0	36.0	35.0					1																	203311480		2203	4299	6502	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203311480G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.1122C>T	1.37:g.203311480G>A			OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2136	FMOD_uc010pqi.1_RNA	p.I374I	NM_002023	NP_002014	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		3	1258	-			374					Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.1122C>T	CCDS30976.1																																																																																				0.637	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		11	83	0	0	0	0	11	83				
HHIPL2	79802	broad.mit.edu	37	1	222717278	222717278	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:222717278C>T	ENST00000343410.6	-	2	633	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	192					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.R192L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCCAGGTGGCGGTTGAGATA	0.602																																						uc001hnh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(574-576)CGC>CAC		HHIP-like 2 precursor							56.0	61.0	59.0					1																	222717278		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717278C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.575G>A	1.37:g.222717278C>T	ENSP00000342118:p.Arg192His						p.R192H	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	633	-			192					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.575G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	4.994	0.184648	0.09495	.	.	ENSG00000143512	ENST00000343410	T	0.75938	-0.98	5.47	4.56	0.56223	Folate receptor-like (1);	0.211356	0.46442	D	0.000289	T	0.63815	0.2543	L	0.52759	1.655	0.28195	N	0.927605	B	0.16166	0.016	B	0.13407	0.009	T	0.50800	-0.8785	10	0.13108	T	0.6	-12.559	8.8649	0.35280	0.0:0.7696:0.0:0.2304	.	192	Q6UWX4	HIPL2_HUMAN	H	192	ENSP00000342118:R192H	ENSP00000342118:R192H	R	-	2	0	HHIPL2	220783901	0.000000	0.05858	0.962000	0.40283	0.153000	0.21895	-0.099000	0.11007	1.298000	0.44778	0.591000	0.81541	CGC		0.602	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		10	117	0	0	0	0	10	117				
RBM17	84991	broad.mit.edu	37	10	6139143	6139143	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:6139143C>T	ENST00000446108.1	+	2	759	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	RBM17_ENST00000379888.4_Nonsense_Mutation_p.Q39*	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	39					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGCTCTCACTCAGGCAAAGGT	0.493																																						uc001ijb.2		NA																	0					0						c.(115-117)CAG>TAG		RNA binding motif protein 17							83.0	85.0	84.0					10																	6139143		2203	4300	6503	SO:0001587	stop_gained	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6139143C>T	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.115C>T	10.37:g.6139143C>T	ENSP00000388638:p.Gln39*					RBM17_uc010qav.1_Nonsense_Mutation_p.Q39*	p.Q39*	NM_032905	NP_116294	Q96I25	SPF45_HUMAN			2	341	+			39					Q96GY6	Nonsense_Mutation	SNP	ENST00000446108.1	37	c.115C>T	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	C	40	7.945463	0.98574	.	.	ENSG00000134453	ENST00000379888;ENST00000432931;ENST00000446108;ENST00000418631	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-17.1785	17.8748	0.88822	0.0:1.0:0.0:0.0	.	.	.	.	X	39	.	ENSP00000369218:Q39X	Q	+	1	0	RBM17	6179149	1.000000	0.71417	0.965000	0.40720	0.977000	0.68977	7.384000	0.79751	2.276000	0.75962	0.460000	0.39030	CAG		0.493	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		12	112	0	0	0	0	12	112				
ANKRD26	22852	broad.mit.edu	37	10	27323939	27323939	+	Missense_Mutation	SNP	C	C	T	rs374176783		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:27323939C>T	ENST00000376087.4	-	24	3605	c.3440G>A	c.(3439-3441)cGa>cAa	p.R1147Q	ANKRD26_ENST00000376070.3_Missense_Mutation_p.R704Q|ANKRD26_ENST00000436985.2_Missense_Mutation_p.R1163Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1146					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CAGTTGTTGTCGAAGCAACAT	0.368																																						uc001ith.2		NA																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(3436-3438)CGA>CAA		ankyrin repeat domain 26		C	GLN/ARG	2,3856		0,2,1927	207.0	192.0	197.0		3440	2.6	0.5	10		197	0,8304		0,0,4152	no	missense	ANKRD26	NM_014915.2	43	0,2,6079	TT,TC,CC		0.0,0.0518,0.0164	possibly-damaging	1147/1711	27323939	2,12160	1929	4152	6081	SO:0001583	missense	22852					centrosome		g.chr10:27323939C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3440G>A	10.37:g.27323939C>T	ENSP00000365255:p.Arg1147Gln					ANKRD26_uc001itg.2_Missense_Mutation_p.R833Q|ANKRD26_uc009xku.1_Missense_Mutation_p.R1147Q	p.R1146Q	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			24	3609	-			1146			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3437G>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360499	0.61403	5.18E-4	0.0	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.18174	2.23;2.23;2.23	5.43	2.57	0.30868	.	0.000000	0.45361	D	0.000374	T	0.12646	0.0307	L	0.41906	1.305	0.46521	D	0.999082	P;P;D	0.58620	0.946;0.91;0.983	B;B;B	0.40659	0.314;0.166;0.336	T	0.07121	-1.0789	10	0.34782	T	0.22	.	9.1833	0.37154	0.0:0.7547:0.0:0.2453	.	1147;1146;1163	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	Q	704;1147;1163	ENSP00000365238:R704Q;ENSP00000365255:R1147Q;ENSP00000405112:R1163Q	ENSP00000365238:R704Q	R	-	2	0	ANKRD26	27363945	0.989000	0.36119	0.497000	0.27552	0.608000	0.37181	1.476000	0.35420	0.675000	0.31264	0.591000	0.81541	CGA		0.368	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			29	311	0	0	0	0	29	311				
BICC1	80114	broad.mit.edu	37	10	60558291	60558291	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:60558291C>T	ENST00000373886.3	+	11	1503	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	BICC1_ENST00000263103.1_Missense_Mutation_p.P126L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	500					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTATGGGCACCCCCACTTGCT	0.403																																						uc001jki.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1498-1500)CCC>CTC		bicaudal C homolog 1							129.0	120.0	123.0					10																	60558291		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60558291C>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1499C>T	10.37:g.60558291C>T	ENSP00000362993:p.Pro500Leu					BICC1_uc001jkj.1_Missense_Mutation_p.P141L	p.P500L	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			11	1499	+			500						Missense_Mutation	SNP	ENST00000373886.3	37	c.1499C>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547582	0.45383	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.45668	1.78;0.89	5.99	5.09	0.68999	.	0.234953	0.49916	N	0.000137	T	0.35189	0.0923	L	0.36672	1.1	0.36037	D	0.839847	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.31724	-0.9933	10	0.35671	T	0.21	-3.3653	15.1049	0.72312	0.0:0.9325:0.0:0.0675	.	420;500	E7EU62;Q9H694	.;BICC1_HUMAN	L	500;126	ENSP00000362993:P500L;ENSP00000263103:P126L	ENSP00000263103:P126L	P	+	2	0	BICC1	60228297	0.344000	0.24827	0.971000	0.41717	0.995000	0.86356	3.696000	0.54757	1.529000	0.49120	0.655000	0.94253	CCC		0.403	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		14	183	0	0	0	0	14	183				
HK1	3098	broad.mit.edu	37	10	71142518	71142518	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:71142518C>T	ENST00000359426.6	+	10	1645	c.1541C>T	c.(1540-1542)tCc>tTc	p.S514F	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Missense_Mutation_p.S549F|HK1_ENST00000298649.3_Missense_Mutation_p.S513F|HK1_ENST00000360289.2_Missense_Mutation_p.S502F|HK1_ENST00000404387.2_Missense_Mutation_p.S518F	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	514	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ATGCTGCCCTCCTTCGTCCGG	0.632																																						uc001jpl.3		NA																	0				ovary(1)	1						c.(1540-1542)TCC>TTC		hexokinase 1 isoform HKI							86.0	63.0	71.0					10																	71142518		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71142518C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1541C>T	10.37:g.71142518C>T	ENSP00000352398:p.Ser514Phe					HK1_uc001jpg.3_Missense_Mutation_p.S502F|HK1_uc001jph.3_Missense_Mutation_p.S518F|HK1_uc001jpi.3_Missense_Mutation_p.S518F|HK1_uc001jpj.3_Missense_Mutation_p.S549F|HK1_uc001jpk.3_Missense_Mutation_p.S513F|HK1_uc009xqd.2_Missense_Mutation_p.S392F	p.S514F	NM_000188	NP_000179	P19367	HXK1_HUMAN			10	1642	+			514			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.1541C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195017	0.94960	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	5.83	5.83	0.93111	Hexokinase, N-terminal (1);	0.046366	0.85682	D	0.000000	D	0.99254	0.9740	M	0.92649	3.33	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;0.999;0.996;0.998;0.992;0.997	D;D;D;D;D;D	0.79784	0.993;0.985;0.976;0.986;0.967;0.947	D	0.99170	1.0864	10	0.87932	D	0	-18.3998	20.1101	0.97910	0.0:1.0:0.0:0.0	.	514;514;513;549;518;502	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	F	502;549;518;513;514;514	ENSP00000353433:S502F;ENSP00000402103:S549F;ENSP00000384774:S518F;ENSP00000298649:S513F;ENSP00000352398:S514F	ENSP00000298649:S513F	S	+	2	0	HK1	70812524	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.743000	0.85020	2.767000	0.95098	0.655000	0.94253	TCC		0.632	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		3	28	0	0	0	0	3	28				
NUTM2A	728118	broad.mit.edu	37	10	88988216	88988216	+	Silent	SNP	C	C	T	rs372485168	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:88988216C>T	ENST00000381707.2	+	2	962	c.579C>T	c.(577-579)tgC>tgT	p.C193C	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Silent_p.C193C	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	193																	AGGATGGCTGCGGCCCGAGTG	0.657													.|||	3	0.000599042	0.0	0.0014	5008	,	,		23551	0.0		0.002	False		,,,				2504	0.0					uc001kek.2		NA																	0					0						c.(577-579)TGC>TGT		hypothetical protein LOC728118		C		0,3644		0,0,1822	36.0	43.0	41.0		579	-2.6	0.0	10		41	2,8126		0,2,4062	no	coding-synonymous	FAM22A	NM_001099338.1		0,2,5884	TT,TC,CC		0.0246,0.0,0.017		193/879	88988216	2,11770	1822	4064	5886	SO:0001819	synonymous_variant	728118							g.chr10:88988216C>T		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.579C>T	10.37:g.88988216C>T						LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	p.C193C	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN			2	962	+			193					A6NMX5|C9JDI1|Q5VZW1	Silent	SNP	ENST00000381707.2	37	c.579C>T	CCDS44452.1																																																																																				0.657	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		17	171	0	0	0	0	17	171				
ERLIN1	10613	broad.mit.edu	37	10	101914691	101914691	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:101914691C>T	ENST00000421367.2	-	10	3458	c.751G>A	c.(751-753)Gca>Aca	p.A251T	ERLIN1_ENST00000407654.3_Missense_Mutation_p.A251T	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	249					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GCCAGGAATGCAGCATCTAGC	0.453																																						uc001kqn.3		NA																	0					0						c.(751-753)GCA>ACA		ER lipid raft associated 1							143.0	115.0	124.0					10																	101914691		2203	4300	6503	SO:0001583	missense	10613				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr10:101914691C>T	AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"""Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"""	611604	"""chromosome 10 open reading frame 69"", ""SPFH domain family, member 1"""	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.751G>A	10.37:g.101914691C>T	ENSP00000410964:p.Ala251Thr					ERLIN1_uc001kqm.3_Missense_Mutation_p.A16T|ERLIN1_uc001kqo.3_Missense_Mutation_p.A251T|ERLIN1_uc010qpm.1_Missense_Mutation_p.A167T	p.A251T	NM_006459	NP_006450	O75477	ERLN1_HUMAN		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)	10	1102	-		Colorectal(252;0.234)	249			Lumenal (Potential).		B0QZ42|Q53HV0	Missense_Mutation	SNP	ENST00000421367.2	37	c.751G>A	CCDS7487.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823759	0.32237	.	.	ENSG00000107566	ENST00000421367;ENST00000407654;ENST00000370410;ENST00000370408	T;T;T	0.68765	-0.35;-0.35;-0.23	5.7	5.7	0.88788	.	0.000000	0.85682	U	0.000000	T	0.52741	0.1753	N	0.14661	0.345	0.80722	D	1	B;B	0.20459	0.045;0.02	B;B	0.20955	0.032;0.014	T	0.45673	-0.9245	10	0.37606	T	0.19	-2.5935	17.7138	0.88330	0.0:1.0:0.0:0.0	.	249;251	O75477;D3DR65	ERLN1_HUMAN;.	T	251;251;167;251	ENSP00000410964:A251T;ENSP00000384900:A251T;ENSP00000359436:A251T	ENSP00000359436:A251T	A	-	1	0	ERLIN1	101904681	1.000000	0.71417	0.971000	0.41717	0.661000	0.39034	6.768000	0.74980	2.861000	0.98227	0.655000	0.94253	GCA		0.453	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		6	53	0	0	0	0	6	53				
SEC23IP	11196	broad.mit.edu	37	10	121658241	121658241	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:121658241C>G	ENST00000369075.3	+	2	538	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	156	Interaction with SEC23A.|Pro-rich.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AAATTCTTATCTGCCTTCTCA	0.478																																						uc001leu.1		NA																	0				ovary(3)	3						c.(466-468)CTG>GTG		Sec23-interacting protein p125							112.0	100.0	104.0					10																	121658241		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121658241C>G	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.466C>G	10.37:g.121658241C>G	ENSP00000358071:p.Leu156Val					SEC23IP_uc010qtc.1_Intron	p.L156V	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	2	538	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	156			Interaction with SEC23A.|Pro-rich.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.466C>G	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	C	4.201	0.036022	0.08148	.	.	ENSG00000107651	ENST00000369075	D	0.97138	-4.26	5.55	2.16	0.27623	.	0.507527	0.22372	N	0.060933	D	0.92792	0.7708	L	0.34521	1.04	0.28785	N	0.899609	B	0.20887	0.049	B	0.21151	0.033	D	0.85949	0.1463	10	0.33141	T	0.24	-0.561	9.0616	0.36438	0.0:0.7257:0.0:0.2743	.	156	Q9Y6Y8	S23IP_HUMAN	V	156	ENSP00000358071:L156V	ENSP00000358071:L156V	L	+	1	2	SEC23IP	121648231	0.058000	0.20735	0.009000	0.14445	0.084000	0.17831	1.158000	0.31737	0.460000	0.27045	0.655000	0.94253	CTG		0.478	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			21	208	0	0	0	0	21	208				
PPP2R2D	55844	broad.mit.edu	37	10	133753685	133753685	+	5'UTR	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:133753685C>G	ENST00000422256.2	+	0	153							Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		TGCTCATTTTCTACTGTCTAC	0.299																																						uc001lks.2		NA																	0				skin(1)	1						c.(250-252)CTA>GTA		protein phosphatase 2, regulatory subunit B,							50.0	48.0	49.0					10																	133753685		1851	4129	5980	SO:0001623	5_prime_UTR_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133753685C>G	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.-333C>G	10.37:g.133753685C>G						PPP2R2D_uc001lkr.2_5'UTR|PPP2R2D_uc001lkt.2_5'UTR|PPP2R2D_uc009yay.2_5'UTR	p.L84V	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	2	493	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	117			WD 2.		A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	ENST00000422256.2	37	c.250C>G		.	.	.	.	.	.	.	.	.	.	C	14.57	2.576040	0.45902	.	.	ENSG00000175470	ENST00000455566	T	0.28069	1.63	4.1	4.1	0.47936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.35537	0.0935	.	.	.	0.80722	D	1	P	0.43662	0.814	P	0.46825	0.528	T	0.12889	-1.0530	9	0.51188	T	0.08	-26.0978	11.5361	0.50639	0.0:0.9129:0.0:0.0871	.	117	Q66LE6	2ABD_HUMAN	V	86	ENSP00000399970:L86V	ENSP00000399970:L86V	L	+	1	2	PPP2R2D	133603675	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.645000	0.46621	2.283000	0.76528	0.655000	0.94253	CTA		0.299	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461		6	36	0	0	0	0	6	36				
TRPM5	29850	broad.mit.edu	37	11	2434717	2434717	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:2434717G>A	ENST00000155858.6	-	13	2000	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L	TRPM5_ENST00000452833.1_Silent_p.L666L|TRPM5_ENST00000528453.1_Silent_p.L664L|TRPM5_ENST00000533060.1_Silent_p.L664L	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAAGGTGATGAGGTTGGTAT	0.682																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1990-1992)CTC>CTT		transient receptor potential cation channel,							36.0	38.0	37.0					11																	2434717		2197	4299	6496	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2434717G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1992C>T	11.37:g.2434717G>A						TRPM5_uc010qxl.1_Silent_p.L664L|TRPM5_uc009ydn.2_Silent_p.L666L	p.L664L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	13	2001	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	664			Helical; (Potential).			Silent	SNP	ENST00000155858.6	37	c.1992C>T	CCDS31340.1																																																																																				0.682	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		5	17	0	0	0	0	5	17				
SWAP70	23075	broad.mit.edu	37	11	9750966	9750966	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:9750966C>T	ENST00000318950.6	+	6	969	c.866C>T	c.(865-867)tCa>tTa	p.S289L	SWAP70_ENST00000447399.2_Missense_Mutation_p.S231L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	289	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ATCAGTGCTTCAGATAAGAAG	0.318																																						uc001mhw.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(865-867)TCA>TTA		SWAP-70 protein							79.0	89.0	86.0					11																	9750966		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9750966C>T	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.866C>T	11.37:g.9750966C>T	ENSP00000315630:p.Ser289Leu					SWAP70_uc001mhv.2_Missense_Mutation_p.S289L|SWAP70_uc001mhx.2_Missense_Mutation_p.S231L	p.S289L	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	6	965	+			289			PH.		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.866C>T	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259776	0.95368	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.13538	2.58;2.58;2.58	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	M	0.83223	2.63	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.994	D;D;D	0.91635	0.998;0.999;0.953	T	0.38887	-0.9640	10	0.54805	T	0.06	-6.6924	19.4417	0.94823	0.0:1.0:0.0:0.0	.	231;289;231	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	L	231;289;140	ENSP00000399056:S231L;ENSP00000315630:S289L;ENSP00000435587:S140L	ENSP00000315630:S289L	S	+	2	0	SWAP70	9707542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.598000	0.87819	0.655000	0.94253	TCA		0.318	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		7	75	0	0	0	0	7	75				
OR5J2	282775	broad.mit.edu	37	11	55944190	55944190	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:55944190G>A	ENST00000312298.1	+	1	97	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GGTGTTCCTGGTGATTTACGC	0.403																																						uc010rjb.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(97-99)GTG>ATG		olfactory receptor, family 5, subfamily J,							188.0	176.0	180.0					11																	55944190		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944190G>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.97G>A	11.37:g.55944190G>A	ENSP00000310788:p.Val33Met						p.V33M	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	97	+	Esophageal squamous(21;0.00693)		33			Helical; Name=1; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.97G>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	3.178	-0.168442	0.06461	.	.	ENSG00000174957	ENST00000312298	T	0.01347	4.99	4.56	-1.66	0.08265	.	0.000000	0.49305	D	0.000156	T	0.01254	0.0041	L	0.43757	1.38	0.09310	N	1	B	0.24317	0.101	B	0.20767	0.031	T	0.44375	-0.9332	10	0.49607	T	0.09	.	4.2741	0.10800	0.0708:0.3133:0.2981:0.3178	.	33	Q8NH18	OR5J2_HUMAN	M	33	ENSP00000310788:V33M	ENSP00000310788:V33M	V	+	1	0	OR5J2	55700766	0.000000	0.05858	0.019000	0.16419	0.017000	0.09413	-0.781000	0.04648	-0.181000	0.10619	-0.303000	0.09236	GTG		0.403	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		64	284	0	0	0	0	64	284				
GIF	2694	broad.mit.edu	37	11	59603454	59603454	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:59603454G>T	ENST00000257248.2	-	7	947	c.900C>A	c.(898-900)agC>agA	p.S300R	GIF_ENST00000541311.1_Missense_Mutation_p.S275R	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	300					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GGCCAGGGTTGCTGGGTAGAG	0.473																																					NSCLC(53;1139 1245 16872 38474 42853)	uc001noi.2		NA																	0				ovary(1)|liver(1)	2						c.(898-900)AGC>AGA		gastric intrinsic factor (vitamin B synthesis)							141.0	145.0	144.0					11																	59603454		2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59603454G>T	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.900C>A	11.37:g.59603454G>T	ENSP00000257248:p.Ser300Arg						p.S300R	NM_005142	NP_005133	P27352	IF_HUMAN			7	948	-			300					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.900C>A	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	3.848	-0.032414	0.07543	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.36520	1.25;1.25	4.89	-3.24	0.05094	.	0.985352	0.08292	N	0.968315	T	0.14657	0.0354	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31024	-0.9958	10	0.15952	T	0.53	-0.0463	5.9435	0.19205	0.4936:0.1355:0.3709:0.0	.	300	P27352	IF_HUMAN	R	300;275	ENSP00000257248:S300R;ENSP00000440427:S275R	ENSP00000257248:S300R	S	-	3	2	GIF	59360030	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.387000	0.07361	-0.318000	0.08665	-0.748000	0.03510	AGC		0.473	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		23	245	1	0	7.08e-08	7.88e-08	23	245				
TUT1	64852	broad.mit.edu	37	11	62358968	62358968	+	5'UTR	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:62358968C>T	ENST00000476907.1	-	0	681				MIR3654_ENST00000496634.2_5'UTR|TUT1_ENST00000308436.7_Missense_Mutation_p.R35K			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific						mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCGACTCTCCTGTACCGACA	0.602																																						uc001nto.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(103-105)AGG>AAG		terminal uridylyl transferase 1, U6							47.0	50.0	49.0					11																	62358968		2202	4299	6501	SO:0001623	5_prime_UTR_variant	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62358968C>T	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.-11G>A	11.37:g.62358968C>T							p.R35K	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			1	142	-			Error:Variant_position_missing_in_Q9H6E5_after_alignment					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.104G>A		.	.	.	.	.	.	.	.	.	.	C	15.75	2.924565	0.52653	.	.	ENSG00000149016	ENST00000308436	T	0.35605	1.3	5.31	4.37	0.52481	.	.	.	.	.	T	0.21801	0.0525	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.21546	0.035	T	0.19160	-1.0314	9	0.41790	T	0.15	.	11.764	0.51920	0.0:0.7707:0.2293:0.0	.	35	F5H0R1	.	K	35	ENSP00000308000:R35K	ENSP00000448623:R12K	R	-	2	0	TUT1	62115544	0.000000	0.05858	0.015000	0.15790	0.377000	0.30045	0.644000	0.24766	1.276000	0.44395	0.655000	0.94253	AGG		0.602	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		11	29	0	0	0	0	11	29				
UCP2	7351	broad.mit.edu	37	11	73689376	73689376	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:73689376C>A	ENST00000310473.3	-	3	890	c.48G>T	c.(46-48)aaG>aaT	p.K16N	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Missense_Mutation_p.K16N	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	16					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CCCCAAGAAACTTCACAGTGG	0.547																																					Colon(191;388 2040 43557 45622 48925)	uc001oup.1		NA																	0					0						c.(46-48)AAG>AAT		uncoupling protein 2							75.0	73.0	74.0					11																	73689376		2200	4293	6493	SO:0001583	missense	7351				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73689376C>A	U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.48G>T	11.37:g.73689376C>A	ENSP00000312029:p.Lys16Asn					UCP2_uc001ouq.1_Missense_Mutation_p.K16N	p.K16N	NM_003355	NP_003346	P55851	UCP2_HUMAN			3	428	-	Breast(11;0.000112)		16			Helical; Name=1; (Potential).|Solcar 1.		Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	c.48G>T	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900966	0.72754	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000539764	T;T;T	0.78707	-1.2;-1.2;-0.22	6.07	3.9	0.45041	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.81781	0.4895	M	0.62723	1.935	0.58432	D	0.999999	B;B	0.31227	0.314;0.167	P;P	0.47915	0.486;0.561	T	0.82214	-0.0568	10	0.59425	D	0.04	-15.6627	10.2886	0.43581	0.0:0.7687:0.0:0.2313	.	16;16	F5GX45;P55851	.;UCP2_HUMAN	N	16	ENSP00000312029:K16N;ENSP00000441147:K16N;ENSP00000438230:K16N	ENSP00000312029:K16N	K	-	3	2	UCP2	73367024	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.043000	0.57354	1.581000	0.49865	0.655000	0.94253	AAG		0.547	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		19	63	1	0	1.96e-10	2.21e-10	19	63				
GRIN2B	2904	broad.mit.edu	37	12	13906692	13906692	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:13906692A>G	ENST00000609686.1	-	3	778	c.569T>C	c.(568-570)aTt>aCt	p.I190T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	190					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTATTCTCAATGGTGCTGCG	0.463																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(568-570)ATT>ACT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						128.0	124.0	125.0					12																	13906692		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906692A>G		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.569T>C	12.37:g.13906692A>G	ENSP00000477455:p.Ile190Thr						p.I190T	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			3	748	-			190			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.569T>C	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287683	0.59976	.	.	ENSG00000150086	ENST00000279593	D	0.82984	-1.67	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.051834	0.85682	D	0.000000	T	0.77025	0.4070	N	0.05441	-0.05	0.80722	D	1	D	0.54397	0.966	P	0.56648	0.803	T	0.74621	-0.3604	10	0.13853	T	0.58	.	14.9427	0.71006	1.0:0.0:0.0:0.0	.	190	Q13224	NMDE2_HUMAN	T	190	ENSP00000279593:I190T	ENSP00000279593:I190T	I	-	2	0	GRIN2B	13797959	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	9.259000	0.95561	1.923000	0.55706	0.459000	0.35465	ATT		0.463	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			39	125	0	0	0	0	39	125				
KIF21A	55605	broad.mit.edu	37	12	39696848	39696848	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:39696848G>A	ENST00000361418.5	-	36	4665	c.4650C>T	c.(4648-4650)acC>acT	p.T1550T	KIF21A_ENST00000395670.3_Silent_p.T1551T|KIF21A_ENST00000361961.3_Silent_p.T1537T|KIF21A_ENST00000541463.2_Silent_p.T1497T|KIF21A_ENST00000544797.2_Silent_p.T1513T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1550					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCCCTTGAATGGTTAGTGCTT	0.403																																						uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(4648-4650)ACC>ACT		kinesin family member 21A							136.0	126.0	129.0					12																	39696848		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39696848G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4650C>T	12.37:g.39696848G>A						KIF21A_uc001rlv.2_Silent_p.T495T|KIF21A_uc001rlw.2_Silent_p.T820T|KIF21A_uc001rlx.2_Silent_p.T1537T|KIF21A_uc001rlz.2_Silent_p.T1497T|KIF21A_uc010skl.1_Silent_p.T1513T|KIF21A_uc001rlt.2_Silent_p.T170T|KIF21A_uc001rlu.2_Silent_p.T170T	p.T1550T	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			36	4796	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1550			WD 5.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.4650C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859835	0.17178	.	.	ENSG00000139116	ENST00000552961	.	.	.	5.18	2.06	0.26882	.	.	.	.	.	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42327	-0.9458	4	.	.	.	.	6.885	0.24195	0.5956:0.0:0.4044:0.0	.	.	.	.	L	851	.	.	P	-	2	0	KIF21A	37983115	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	0.646000	0.24797	0.144000	0.18951	-0.229000	0.12294	CCA		0.403	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		5	172	0	0	0	0	5	172				
GPR84	53831	broad.mit.edu	37	12	54757125	54757125	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:54757125C>G	ENST00000551809.1	-	1	1146	c.511G>C	c.(511-513)Gac>Cac	p.D171H	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.D171H			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGGATGCGGTCAAAGCTGCAG	0.572																																						uc001sfu.2		NA																	0				breast(2)	2						c.(511-513)GAC>CAC		G protein-coupled receptor 84							72.0	60.0	64.0					12																	54757125		2203	4300	6503	SO:0001583	missense	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54757125C>G	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.511G>C	12.37:g.54757125C>G	ENSP00000450310:p.Asp171His						p.D171H	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN			2	601	-			171			Extracellular (Potential).		B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.511G>C	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531129	0.27387	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.38722	1.12;1.12	5.02	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.168840	0.35262	N	0.003328	T	0.34513	0.0900	L	0.47716	1.5	0.37155	D	0.90233	B	0.06786	0.001	B	0.11329	0.006	T	0.26121	-1.0112	10	0.19590	T	0.45	-14.082	12.0884	0.53710	0.0:0.6663:0.3337:0.0	.	171	Q9NQS5	GPR84_HUMAN	H	171	ENSP00000267015:D171H;ENSP00000450310:D171H	ENSP00000267015:D171H	D	-	1	0	GPR84	53043392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.924000	0.63418	1.209000	0.43321	0.555000	0.69702	GAC		0.572	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			3	80	0	0	0	0	3	80				
RBMS2	5939	broad.mit.edu	37	12	56975652	56975652	+	Silent	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:56975652T>C	ENST00000262031.5	+	8	863	c.768T>C	c.(766-768)gcT>gcC	p.A256A	RBMS2_ENST00000550726.1_Silent_p.A131A|RBMS2_ENST00000552247.2_Silent_p.A256A|RBMS2_ENST00000542360.1_Silent_p.A111A	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	256					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CCACCACAGCTCTTCAGAATG	0.433																																						uc001sln.2		NA																	0					0						c.(766-768)GCT>GCC		RNA binding motif, single stranded interacting							128.0	123.0	125.0					12																	56975652		2203	4300	6503	SO:0001819	synonymous_variant	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56975652T>C	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.768T>C	12.37:g.56975652T>C						RBMS2_uc010sqp.1_Silent_p.A111A|RBMS2_uc010sqq.1_Silent_p.A131A|RBMS2_uc009zou.2_Silent_p.A13A	p.A256A	NM_002898	NP_002889	Q15434	RBMS2_HUMAN			8	967	+			256						Silent	SNP	ENST00000262031.5	37	c.768T>C	CCDS8923.1																																																																																				0.433	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		51	264	0	0	0	0	51	264				
SHMT2	6472	broad.mit.edu	37	12	57626045	57626045	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:57626045C>G	ENST00000328923.3	+	5	1016	c.564C>G	c.(562-564)atC>atG	p.I188M	SHMT2_ENST00000557487.1_Missense_Mutation_p.I188M|SHMT2_ENST00000393827.4_Missense_Mutation_p.S83C|SHMT2_ENST00000449049.3_Missense_Mutation_p.I167M|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Missense_Mutation_p.I167M|SHMT2_ENST00000553474.1_Missense_Mutation_p.I167M	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	188					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CCACGTCCATCTTCTTCGAGT	0.592																																					Esophageal Squamous(150;1369 2416 49071 49364)	uc001snf.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(562-564)ATC>ATG		serine hydroxymethyltransferase 2	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						169.0	138.0	149.0					12																	57626045		2203	4300	6503	SO:0001583	missense	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626045C>G	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.564C>G	12.37:g.57626045C>G	ENSP00000333667:p.Ile188Met					SHMT2_uc001sng.1_Missense_Mutation_p.I84M|SHMT2_uc001snh.1_Missense_Mutation_p.I27M|SHMT2_uc009zpk.1_Missense_Mutation_p.I188M|SHMT2_uc001sni.1_Missense_Mutation_p.I167M|SHMT2_uc010srg.1_Missense_Mutation_p.I197M|SHMT2_uc001snj.1_Missense_Mutation_p.S83C|SHMT2_uc010srh.1_Missense_Mutation_p.I167M|SHMT2_uc001snk.1_Missense_Mutation_p.S83C|SHMT2_uc010sri.1_Missense_Mutation_p.I167M|SHMT2_uc001snl.2_Missense_Mutation_p.S83C|SHMT2_uc010srj.1_5'Flank	p.I188M	NM_005412	NP_005403	P34897	GLYM_HUMAN			5	574	+			188					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	c.564C>G	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.92|18.92	3.726289|3.726289	0.69074|0.69074	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000555634;ENST00000556689;ENST00000414700;ENST00000553474;ENST00000554975;ENST00000449049|ENST00000393827	T;T;T;T;T;T;T;T|T	0.45276|0.33865	1.48;0.9;0.9;0.9;1.48;1.48;1.48;1.48|1.39	4.95|4.95	-1.06|-1.06	0.10002|0.10002	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43964|0.43964	0.1271|0.1271	M|M	0.72479|0.72479	2.2|2.2	0.20403|0.20403	N|N	0.999905|0.999905	P;P;P;D|D	0.59767|0.56287	0.695;0.833;0.854;0.986|0.975	P;P;P;D|P	0.65573|0.53722	0.709;0.681;0.666;0.936|0.733	T|T	0.34527|0.34527	-0.9825|-0.9825	10|9	0.72032|0.87932	D|D	0.01|0	-6.3994|-6.3994	4.9554|4.9554	0.14036|0.14036	0.235:0.4996:0.0:0.2654|0.235:0.4996:0.0:0.2654	.|.	197;188;119;188|83	B4DWA7;Q8N1A5;B4DP88;P34897|B4DLV4	.;.;.;GLYM_HUMAN|.	M|C	188;188;27;188;167;167;167;167|83	ENSP00000333667:I188M;ENSP00000452315:I188M;ENSP00000450930:I27M;ENSP00000452035:I188M;ENSP00000406881:I167M;ENSP00000452419:I167M;ENSP00000452404:I167M;ENSP00000413770:I167M|ENSP00000377413:S83C	ENSP00000333667:I188M|ENSP00000377413:S83C	I|S	+|+	3|2	3|0	SHMT2|SHMT2	55912312|55912312	0.623000|0.623000	0.27094|0.27094	0.994000|0.994000	0.49952|0.49952	0.997000|0.997000	0.91878|0.91878	-0.108000|-0.108000	0.10857|0.10857	-0.199000|-0.199000	0.10317|0.10317	0.655000|0.655000	0.94253|0.94253	ATC|TCT		0.592	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		38	152	0	0	0	0	38	152				
GLI1	2735	broad.mit.edu	37	12	57858619	57858619	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:57858619C>T	ENST00000228682.2	+	4	448	c.357C>T	c.(355-357)ggC>ggT	p.G119G	GLI1_ENST00000543426.1_5'UTR|GLI1_ENST00000546141.1_Silent_p.G78G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	119					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCCAGGAGGCTCCTACGGTC	0.587																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(355-357)GGC>GGT		GLI family zinc finger 1 isoform 1							118.0	102.0	107.0					12																	57858619		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57858619C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.357C>T	12.37:g.57858619C>T						GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA	p.G119G	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		4	435	+			119					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.357C>T	CCDS8940.1																																																																																				0.587	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		22	123	0	0	0	0	22	123				
TMTC2	160335	broad.mit.edu	37	12	83359345	83359345	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:83359345A>G	ENST00000321196.3	+	6	2398	c.1691A>G	c.(1690-1692)tAt>tGt	p.Y564C	TMTC2_ENST00000548305.1_Missense_Mutation_p.Y564C|TMTC2_ENST00000549919.1_Missense_Mutation_p.Y558C	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	564					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCAGCTGCATATTTAAATACC	0.368																																						uc001szt.2		NA																	0				ovary(2)	2						c.(1690-1692)TAT>TGT		transmembrane and tetratricopeptide repeat							61.0	66.0	64.0					12																	83359345		2203	4299	6502	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83359345A>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1691A>G	12.37:g.83359345A>G	ENSP00000322300:p.Tyr564Cys					TMTC2_uc001szr.1_Missense_Mutation_p.Y564C|TMTC2_uc001szs.1_Missense_Mutation_p.Y564C|TMTC2_uc010suk.1_Missense_Mutation_p.Y319C	p.Y564C	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			6	2123	+			564			TPR 4.		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1691A>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498656	0.64298	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	D;D;D	0.95035	-3.59;-3.59;-3.59	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97148	0.9068	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.973;0.983	D	0.97757	1.0218	10	0.66056	D	0.02	-12.7443	14.946	0.71032	1.0:0.0:0.0:0.0	.	564;319;564	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	C	564;564;558;319	ENSP00000322300:Y564C;ENSP00000448292:Y564C;ENSP00000447609:Y558C	ENSP00000322300:Y564C	Y	+	2	0	TMTC2	81883476	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	8.910000	0.92685	1.995000	0.58328	0.477000	0.44152	TAT		0.368	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		14	108	0	0	0	0	14	108				
RASSF9	9182	broad.mit.edu	37	12	86198832	86198832	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:86198832T>G	ENST00000361228.3	-	2	1324	c.956A>C	c.(955-957)aAg>aCg	p.K319T		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	319					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAATCACACTTAACACTCTC	0.368																																						uc001taf.1		NA																	0				ovary(1)	1						c.(955-957)AAG>ACG		Ras association (RalGDS/AF-6) domain family							174.0	178.0	177.0					12																	86198832		1857	4091	5948	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198832T>G		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.956A>C	12.37:g.86198832T>G	ENSP00000354884:p.Lys319Thr						p.K319T	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	1295	-			319					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.956A>C	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317736	0.40996	.	.	ENSG00000198774	ENST00000361228	T	0.57107	0.42	4.9	4.9	0.64082	.	0.173652	0.43747	U	0.000529	T	0.62380	0.2423	L	0.32530	0.975	0.18873	N	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.57625	-0.7779	10	0.59425	D	0.04	-12.7733	14.7987	0.69898	0.0:0.0:0.0:1.0	.	319	O75901	RASF9_HUMAN	T	319	ENSP00000354884:K319T	ENSP00000354884:K319T	K	-	2	0	RASSF9	84722963	0.027000	0.19231	0.997000	0.53966	0.667000	0.39255	0.946000	0.29069	1.958000	0.56883	0.528000	0.53228	AAG		0.368	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			39	363	0	0	0	0	39	363				
PARPBP	55010	broad.mit.edu	37	12	102572458	102572458	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:102572458C>G	ENST00000358383.5	+	8	1139	c.1094C>G	c.(1093-1095)gCt>gGt	p.A365G	PARPBP_ENST00000392911.2_Missense_Mutation_p.A284G|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.A284G|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.A442G			Q9NWS1	PARI_HUMAN	PARP1 binding protein	365					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						GAAGAAGCAGCTAATGCTCCT	0.378																																						uc001tjf.2		NA																	0					0						c.(1093-1095)GCT>GGT		hypothetical protein LOC55010							100.0	97.0	98.0					12																	102572458		2203	4300	6503	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102572458C>G	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1094C>G	12.37:g.102572458C>G	ENSP00000351153:p.Ala365Gly					C12orf48_uc001tjg.2_Missense_Mutation_p.A284G|C12orf48_uc010swa.1_Missense_Mutation_p.A442G|C12orf48_uc001tjh.2_Missense_Mutation_p.A284G|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.A80G|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	p.A365G	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			8	1206	+			365					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.1094C>G	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911508	0.52439	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.65	4.76	0.60689	.	0.169003	0.52532	D	0.000063	T	0.56746	0.2006	L	0.55103	1.725	0.32690	N	0.514375	D;D	0.61697	0.99;0.971	P;P	0.59825	0.864;0.725	T	0.64931	-0.6291	10	0.29301	T	0.29	-8.3218	11.8988	0.52671	0.0:0.8552:0.0:0.1448	.	442;365	B4DZ31;Q9NWS1	.;PR1BP_HUMAN	G	284;442;365;284	ENSP00000332915:A284G;ENSP00000440850:A442G;ENSP00000351153:A365G;ENSP00000376643:A284G	ENSP00000332915:A284G	A	+	2	0	C12orf48	101096588	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	2.954000	0.49113	1.379000	0.46325	0.650000	0.86243	GCT		0.378	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		11	79	0	0	0	0	11	79				
SKA3	221150	broad.mit.edu	37	13	21742409	21742409	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr13:21742409C>T	ENST00000314759.5	-	4	585	c.461G>A	c.(460-462)cGt>cAt	p.R154H	SKA3_ENST00000400018.3_Missense_Mutation_p.R154H	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	154					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTGTGGACTACGTGGAGACTT	0.433																																						uc001unt.2		NA																	0					0						c.(460-462)CGT>CAT		SKA3							118.0	122.0	120.0					13																	21742409		2203	4300	6503	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21742409C>T	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.461G>A	13.37:g.21742409C>T	ENSP00000319417:p.Arg154His					SKA3_uc001unv.2_Missense_Mutation_p.R72H|SKA3_uc001unu.2_Missense_Mutation_p.R154H	p.R154H	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN			4	555	-			154					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.461G>A	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.041207	0.93685	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.29655	1.57;1.56	5.88	4.12	0.48240	.	0.171732	0.52532	D	0.000065	T	0.27629	0.0679	M	0.66939	2.045	0.09310	N	1	P;P	0.50272	0.933;0.933	B;B	0.37267	0.245;0.245	T	0.32107	-0.9919	10	0.49607	T	0.09	-2.8324	9.5252	0.39160	0.0:0.7818:0.1413:0.0769	.	154;154	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	H	154	ENSP00000319417:R154H;ENSP00000382896:R154H	ENSP00000319417:R154H	R	-	2	0	SKA3	20640409	0.003000	0.15002	0.009000	0.14445	0.843000	0.47879	1.037000	0.30241	1.472000	0.48140	0.655000	0.94253	CGT		0.433	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		21	167	0	0	0	0	21	167				
CDADC1	81602	broad.mit.edu	37	13	49833572	49833572	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr13:49833572C>A	ENST00000251108.6	+	4	456	c.343C>A	c.(343-345)Ctt>Att	p.L115I	CDADC1_ENST00000538056.1_Missense_Mutation_p.L115I|CDADC1_ENST00000444959.1_Intron	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	115							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GCAGATTGCTCTTATTAAACA	0.368																																						uc001vcu.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(343-345)CTT>ATT		cytidine and dCMP deaminase domain containing 1							126.0	123.0	124.0					13																	49833572		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49833572C>A	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.343C>A	13.37:g.49833572C>A	ENSP00000251108:p.Leu115Ile					CDADC1_uc001vcs.1_RNA|CDADC1_uc001vct.1_Intron|CDADC1_uc010tgk.1_Intron|CDADC1_uc001vcv.2_Intron	p.L115I	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	4	419	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	115					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.343C>A	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110616	0.56398	.	.	ENSG00000102543	ENST00000538056;ENST00000251108	T;T	0.34667	1.35;1.35	5.77	3.91	0.45181	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.333388	0.33005	N	0.005386	T	0.22781	0.0550	N	0.05177	-0.1	0.80722	D	1	B	0.29162	0.235	B	0.33521	0.165	T	0.14896	-1.0456	10	0.48119	T	0.1	-7.8702	15.1025	0.72292	0.0:0.6058:0.3942:0.0	.	115	Q9BWV3	CDAC1_HUMAN	I	115	ENSP00000442779:L115I;ENSP00000251108:L115I	ENSP00000251108:L115I	L	+	1	0	CDADC1	48731573	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.933000	0.28897	1.557000	0.49525	-0.291000	0.09656	CTT		0.368	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		47	107	1	0	6.21e-16	7.1e-16	47	107				
CTSG	1511	broad.mit.edu	37	14	25043576	25043576	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:25043576C>T	ENST00000216336.2	-	4	505	c.469G>A	c.(469-471)Gat>Aat	p.D157N		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	157	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CGGAGTGTATCTGTTCCCCTC	0.637																																						uc001wpq.2		NA																	0				ovary(2)	2						c.(469-471)GAT>AAT		cathepsin G preproprotein							133.0	113.0	119.0					14																	25043576		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043576C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.469G>A	14.37:g.25043576C>T	ENSP00000216336:p.Asp157Asn						p.D157N	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	506	-			157			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.469G>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375484	0.24857	.	.	ENSG00000100448	ENST00000216336	D	0.89270	-2.49	5.14	-8.23	0.01033	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.010810	0.07959	N	0.982118	T	0.74566	0.3733	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.20767	0.031	T	0.60161	-0.7317	10	0.19147	T	0.46	.	8.2535	0.31741	0.0:0.1367:0.3061:0.5572	.	157	P08311	CATG_HUMAN	N	157	ENSP00000216336:D157N	ENSP00000216336:D157N	D	-	1	0	CTSG	24113416	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.641000	0.02007	-1.588000	0.01627	-0.136000	0.14681	GAT		0.637	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		20	139	0	0	0	0	20	139				
NPAS3	64067	broad.mit.edu	37	14	34145431	34145431	+	Silent	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:34145431C>G	ENST00000356141.4	+	6	573	c.573C>G	c.(571-573)ggC>ggG	p.G191G	NPAS3_ENST00000547068.1_Silent_p.G87G|NPAS3_ENST00000551492.1_Silent_p.G196G|NPAS3_ENST00000357798.5_Silent_p.G178G|NPAS3_ENST00000551008.1_Silent_p.G89G|NPAS3_ENST00000548645.1_Silent_p.G161G|NPAS3_ENST00000346562.2_Silent_p.G159G|NPAS3_ENST00000341321.4_Silent_p.G191G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	191	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGCTGACAGGCAGCAGTGTCT	0.537																																						uc001wru.2		NA																	0				ovary(1)|skin(1)	2						c.(571-573)GGC>GGG		neuronal PAS domain protein 3 isoform 3							93.0	94.0	94.0					14																	34145431		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34145431C>G	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.573C>G	14.37:g.34145431C>G						NPAS3_uc001wrs.2_Silent_p.G178G|NPAS3_uc001wrt.2_Silent_p.G159G|NPAS3_uc001wrv.2_Silent_p.G161G|NPAS3_uc001wrw.2_Silent_p.G89G	p.G191G	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	6	637	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		191			PAS 1.		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.573C>G	CCDS53891.1																																																																																				0.537	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			35	167	0	0	0	0	35	167				
WDHD1	11169	broad.mit.edu	37	14	55457985	55457985	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:55457985C>T	ENST00000360586.3	-	12	1352	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R	WDHD1_ENST00000421192.1_Silent_p.R306R|WDHD1_ENST00000359167.4_Missense_Mutation_p.G9D|WDHD1_ENST00000420358.2_Silent_p.R306R	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	429					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATGGCTTTTGCCGGGGAGTTG	0.448																																						uc001xbm.1		NA																	0				skin(1)	1						c.(1285-1287)CGG>CGA		WD repeat and HMG-box DNA binding protein 1							168.0	154.0	159.0					14																	55457985		2203	4300	6503	SO:0001819	synonymous_variant	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55457985C>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1287G>A	14.37:g.55457985C>T						WDHD1_uc010aom.1_Missense_Mutation_p.G8D|WDHD1_uc001xbn.1_Silent_p.R306R	p.R429R	NM_007086	NP_009017	O75717	WDHD1_HUMAN			12	1365	-			429					C9JW18|F6W0U7	Silent	SNP	ENST00000360586.3	37	c.1287G>A	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	8.112	0.779109	0.16120	.	.	ENSG00000198554	ENST00000359167	T	0.47528	0.84	5.36	2.19	0.27852	.	.	.	.	.	T	0.37210	0.0995	.	.	.	0.25241	N	0.989752	B	0.02656	0.0	B	0.06405	0.002	T	0.33954	-0.9848	8	0.72032	D	0.01	.	9.3835	0.38329	0.0:0.6101:0.0:0.3899	.	9	F8W7P7	.	D	9	ENSP00000352085:G9D	ENSP00000352085:G9D	G	-	2	0	WDHD1	54527735	0.035000	0.19736	0.975000	0.42487	0.671000	0.39405	-0.059000	0.11731	0.495000	0.27882	0.650000	0.86243	GGC		0.448	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		4	108	0	0	0	0	4	108				
ARID4A	5926	broad.mit.edu	37	14	58831004	58831004	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:58831004G>C	ENST00000355431.3	+	20	2570	c.2197G>C	c.(2197-2199)Gat>Cat	p.D733H	ARID4A_ENST00000348476.3_Missense_Mutation_p.D733H|ARID4A_ENST00000431317.2_Missense_Mutation_p.D733H|ARID4A_ENST00000395168.3_Missense_Mutation_p.D733H	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	733					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGATAAGCTAGATGAAGAAAA	0.289																																						uc001xdp.2		NA																	0				ovary(3)|skin(2)|lung(1)	6						c.(2197-2199)GAT>CAT		retinoblastoma-binding protein 1 isoform I							42.0	51.0	48.0					14																	58831004		2146	4266	6412	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831004G>C	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2197G>C	14.37:g.58831004G>C	ENSP00000347602:p.Asp733His					ARID4A_uc001xdo.2_Missense_Mutation_p.D733H|ARID4A_uc001xdq.2_Missense_Mutation_p.D733H|ARID4A_uc010apg.1_Missense_Mutation_p.D411H	p.D733H	NM_002892	NP_002883	P29374	ARI4A_HUMAN			20	2451	+			733					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2197G>C	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063845	0.55432	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.17213	2.38;2.37;2.39;2.37;2.29	5.8	4.91	0.64330	.	0.901065	0.09802	N	0.753901	T	0.24392	0.0591	N	0.24115	0.695	0.33717	D	0.616542	P;P;P	0.49559	0.925;0.668;0.925	P;P;P	0.53593	0.73;0.499;0.73	T	0.26224	-1.0109	10	0.56958	D	0.05	-5.9844	14.6075	0.68489	0.0697:0.0:0.9303:0.0	.	733;733;733	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	H	733;733;733;733;411	ENSP00000347602:D733H;ENSP00000344556:D733H;ENSP00000378597:D733H;ENSP00000397368:D733H;ENSP00000416053:D411H	ENSP00000344556:D733H	D	+	1	0	ARID4A	57900757	0.998000	0.40836	0.999000	0.59377	0.988000	0.76386	4.028000	0.57246	1.458000	0.47871	0.650000	0.86243	GAT		0.289	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		15	140	0	0	0	0	15	140				
FLRT2	23768	broad.mit.edu	37	14	86089701	86089701	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:86089701G>A	ENST00000330753.4	+	2	2610	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D615N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	615					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTTAAATAACGATCAACTCCT	0.473																																						uc001xvr.2		NA																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1843-1845)GAT>AAT		fibronectin leucine rich transmembrane protein 2							142.0	150.0	147.0					14																	86089701		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089701G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1843G>A	14.37:g.86089701G>A	ENSP00000332879:p.Asp615Asn					FLRT2_uc010atd.2_Missense_Mutation_p.D615N	p.D615N	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2610	+			615			Cytoplasmic (Potential).		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1843G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388238	0.61956	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.55588	0.51;0.51	6.17	6.17	0.99709	.	0.055205	0.64402	D	0.000001	T	0.42291	0.1196	L	0.29908	0.895	0.58432	D	0.999998	D	0.57899	0.981	B	0.36989	0.238	T	0.34079	-0.9843	10	0.36615	T	0.2	-18.7139	20.8794	0.99867	0.0:0.0:1.0:0.0	.	615	O43155	FLRT2_HUMAN	N	615;615;268	ENSP00000332879:D615N;ENSP00000451050:D615N	ENSP00000332879:D615N	D	+	1	0	FLRT2	85159454	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.998000	0.88491	2.941000	0.99782	0.655000	0.94253	GAT		0.473	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			89	306	0	0	0	0	89	306				
RYR3	6263	broad.mit.edu	37	15	33936544	33936544	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:33936544C>G	ENST00000389232.4	+	28	3659	c.3589C>G	c.(3589-3591)Cag>Gag	p.Q1197E	RYR3_ENST00000415757.3_Missense_Mutation_p.Q1197E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1197	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGTCTATCTCAGATCGGCCG	0.527																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3589-3591)CAG>GAG		ryanodine receptor 3							59.0	59.0	59.0					15																	33936544		1967	4154	6121	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33936544C>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3589C>G	15.37:g.33936544C>G	ENSP00000373884:p.Gln1197Glu					RYR3_uc010bar.2_Missense_Mutation_p.Q1197E	p.Q1197E	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	28	3659	+		all_lung(180;7.18e-09)	1197			B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3589C>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470460	0.84533	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.68181	-0.31;-0.31	5.13	5.13	0.70059	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	N	0.20986	0.625	0.80722	D	1	D;P	0.58268	0.982;0.895	D;P	0.70227	0.968;0.56	T	0.76358	-0.2988	10	0.87932	D	0	.	19.1356	0.93426	0.0:1.0:0.0:0.0	.	1197;1197	Q15413-2;Q15413	.;RYR3_HUMAN	E	1197	ENSP00000373884:Q1197E;ENSP00000399610:Q1197E	ENSP00000354735:Q1197E	Q	+	1	0	RYR3	31723836	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	7.609000	0.82925	2.826000	0.97356	0.655000	0.94253	CAG		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	32	0	0	0	0	9	32				
MAPKBP1	23005	broad.mit.edu	37	15	42116702	42116702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:42116702C>T	ENST00000456763.2	+	31	4448	c.4252C>T	c.(4252-4254)Cag>Tag	p.Q1418*	MAPKBP1_ENST00000457542.2_Nonsense_Mutation_p.Q1412*|MAPKBP1_ENST00000514566.1_Nonsense_Mutation_p.Q1135*|MAPKBP1_ENST00000260357.7_Nonsense_Mutation_p.Q1251*|RP11-23P13.4_ENST00000510176.1_RNA|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000221214.6_Nonsense_Mutation_p.Q1295*	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1418										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GAGCCTGGAGCAGTGTGAGCA	0.652																																						uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(4252-4254)CAG>TAG		mitogen-activated protein kinase binding protein							37.0	33.0	34.0					15																	42116702		2197	4295	6492	SO:0001587	stop_gained	23005							g.chr15:42116702C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4252C>T	15.37:g.42116702C>T	ENSP00000393099:p.Gln1418*					MAPKBP1_uc001zoj.3_Nonsense_Mutation_p.Q1412*|MAPKBP1_uc010bcj.2_Nonsense_Mutation_p.Q919*|MAPKBP1_uc010bci.2_Nonsense_Mutation_p.Q1135*|MAPKBP1_uc010udb.1_Nonsense_Mutation_p.Q1251*|MAPKBP1_uc010bck.2_Nonsense_Mutation_p.Q629*|MAPKBP1_uc010bcl.2_Nonsense_Mutation_p.Q917*	p.Q1418*	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	31	4538	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1418					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Nonsense_Mutation	SNP	ENST00000456763.2	37	c.4252C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	43	10.200190	0.99358	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	.	.	.	5.05	4.12	0.48240	.	0.540735	0.19522	N	0.112257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-9.1767	15.6112	0.76721	0.0:0.8623:0.1377:0.0	.	.	.	.	X	1412;1295;1251;1418;1135	.	ENSP00000221214:Q1295X	Q	+	1	0	MAPKBP1	39903994	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.782000	0.38654	1.108000	0.41662	0.558000	0.71614	CAG		0.652	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		5	22	0	0	0	0	5	22				
VPS39	23339	broad.mit.edu	37	15	42457994	42457994	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:42457994C>T	ENST00000348544.4	-	18	1733	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	VPS39_ENST00000318006.5_Silent_p.P567P			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	578					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473																																						uc001zpd.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1732-1734)CCG>CCA		vacuolar protein sorting 39							76.0	77.0	77.0					15																	42457994		2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42457994C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1734G>A	15.37:g.42457994C>T						VPS39_uc001zpc.2_Silent_p.P567P|VPS39_uc001zpb.2_5'UTR	p.P578P	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	18	1885	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	578					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.1734G>A	CCDS10083.1																																																																																				0.473	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		14	140	0	0	0	0	14	140				
ALPK3	57538	broad.mit.edu	37	15	85384080	85384080	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:85384080G>T	ENST00000258888.5	+	5	2343	c.2176G>T	c.(2176-2178)Gtg>Ttg	p.V726L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	726					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTGTGCAGGTGCCGACGCC	0.637																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(2176-2178)GTG>TTG		alpha-kinase 3							34.0	38.0	37.0					15																	85384080		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85384080G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2176G>T	15.37:g.85384080G>T	ENSP00000258888:p.Val726Leu						p.V726L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2343	+			726					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.2176G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634538	0.67130	.	.	ENSG00000136383	ENST00000258888	T	0.65916	-0.18	5.09	5.09	0.68999	.	1.381190	0.04348	N	0.355118	T	0.69949	0.3168	L	0.34521	1.04	0.32346	N	0.55915	D	0.67145	0.996	P	0.58266	0.836	T	0.60444	-0.7262	10	0.33940	T	0.23	-12.1234	14.0186	0.64539	0.0:0.0:1.0:0.0	.	726	Q96L96	ALPK3_HUMAN	L	726	ENSP00000258888:V726L	ENSP00000258888:V726L	V	+	1	0	ALPK3	83185084	0.001000	0.12720	0.957000	0.39632	0.350000	0.29205	0.690000	0.25451	2.356000	0.79943	0.557000	0.71058	GTG		0.637	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		18	52	1	0	1.03e-11	1.17e-11	18	52				
BLM	641	broad.mit.edu	37	15	91347415	91347415	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:91347415G>C	ENST00000355112.3	+	19	3695	c.3577G>C	c.(3577-3579)Gaa>Caa	p.E1193Q	BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1193					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TATGGAAACAGAAAATTCCAG	0.373			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2		NA	yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			0				ovary(3)|skin(2)|breast(1)	6						c.(3577-3579)GAA>CAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							56.0	61.0	59.0					15																	91347415		2198	4298	6496	SO:0001583	missense	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91347415G>C	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3577G>C	15.37:g.91347415G>C	ENSP00000347232:p.Glu1193Gln					BLM_uc010uqh.1_Missense_Mutation_p.E1193Q|BLM_uc010uqi.1_Missense_Mutation_p.E818Q|BLM_uc010bnx.2_Intron|BLM_uc002bpt.2_Missense_Mutation_p.E168Q	p.E1193Q	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		19	3674	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1193					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.3577G>C	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202900	0.79127	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.48836	0.8	5.77	5.77	0.91146	RQC domain (2);	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.79123	2.44	0.80722	D	1	P	0.46064	0.872	P	0.50970	0.655	T	0.61053	-0.7140	10	0.37606	T	0.19	-10.3842	17.4793	0.87668	0.0:0.0:1.0:0.0	.	1193	P54132	BLM_HUMAN	Q	1193;823;380	ENSP00000347232:E1193Q	ENSP00000347232:E1193Q	E	+	1	0	BLM	89148419	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.348000	0.79366	2.715000	0.92844	0.655000	0.94253	GAA		0.373	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			7	85	0	0	0	0	7	85				
MAN2A2	4122	broad.mit.edu	37	15	91453879	91453879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:91453879G>A	ENST00000559717.1	+	11	2185	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	MAN2A2_ENST00000360468.3_Missense_Mutation_p.A576T|MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000431652.2_Missense_Mutation_p.A84T			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	576					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACTGGCACGGCCAAGGAGGC	0.587																																						uc010bnz.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(1726-1728)GCC>ACC		mannosidase, alpha, class 2A, member 2							61.0	60.0	60.0					15																	91453879		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91453879G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1726G>A	15.37:g.91453879G>A	ENSP00000452948:p.Ala576Thr					MAN2A2_uc010boa.2_Missense_Mutation_p.A618T|MAN2A2_uc002bqc.2_Missense_Mutation_p.A576T|MAN2A2_uc010uql.1_Missense_Mutation_p.A238T|MAN2A2_uc010uqm.1_Missense_Mutation_p.A155T|MAN2A2_uc010uqn.1_5'Flank	p.A576T	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		11	1841	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		576			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1726G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172736	0.78452	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	T;T	0.76060	-0.99;-0.99	5.28	5.28	0.74379	Glycoside hydrolase, family 38, central domain (2);	0.047019	0.85682	D	0.000000	D	0.90686	0.7078	H	0.95328	3.655	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.996;0.983	D;D;D;D	0.77557	0.99;0.989;0.939;0.982	D	0.93346	0.6714	10	0.87932	D	0	-31.6396	18.956	0.92658	0.0:0.0:1.0:0.0	.	84;204;576;576	B4DEU9;B4DIK4;P49641-1;P49641	.;.;.;MA2A2_HUMAN	T	576;84	ENSP00000353655:A576T;ENSP00000388221:A84T	ENSP00000353655:A576T	A	+	1	0	MAN2A2	89254883	1.000000	0.71417	0.966000	0.40874	0.442000	0.32017	5.423000	0.66458	2.492000	0.84095	0.306000	0.20318	GCC		0.587	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		4	131	0	0	0	0	4	131				
IGF1R	3480	broad.mit.edu	37	15	99500474	99500474	+	Missense_Mutation	SNP	G	G	A	rs45475702		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:99500474G>A	ENST00000268035.6	+	21	4518	c.3907G>A	c.(3907-3909)Gtc>Atc	p.V1303I	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.V1302I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1303					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CATGGAGAGCGTCCCCCTGGA	0.667																																						uc002bul.2		NA																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(3907-3909)GTC>ATC		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						52.0	54.0	53.0					15																	99500474		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99500474G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3907G>A	15.37:g.99500474G>A	ENSP00000268035:p.Val1303Ile					IGF1R_uc010bon.2_Missense_Mutation_p.V1302I	p.V1303I	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		21	3957	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1303			Cytoplasmic (Potential).		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3907G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	7.577	0.667991	0.14710	.	.	ENSG00000140443	ENST00000268035	T	0.75154	-0.91	5.54	3.44	0.39384	.	0.112651	0.36409	N	0.002606	T	0.43389	0.1245	N	0.03324	-0.35	0.42819	D	0.993985	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.22941	-1.0202	10	0.13108	T	0.6	.	4.2403	0.10645	0.4672:0.0:0.5328:0.0	rs45475702	1302;1303	C9J5X1;P08069	.;IGF1R_HUMAN	I	1303	ENSP00000268035:V1303I	ENSP00000268035:V1303I	V	+	1	0	IGF1R	97317997	1.000000	0.71417	0.854000	0.33618	0.964000	0.63967	4.370000	0.59517	1.341000	0.45600	0.460000	0.39030	GTC		0.667	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		11	54	0	0	0	0	11	54				
TMEM8A	58986	broad.mit.edu	37	16	426741	426741	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:426741C>A	ENST00000431232.2	-	5	867	c.707G>T	c.(706-708)gGc>gTc	p.G236V	TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.G43V	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	236					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CACGGGGCAGCCCAGGCTCCC	0.682																																						uc002cgu.3		NA																	0				central_nervous_system(2)|pancreas(1)	3						c.(706-708)GGC>GTC		transmembrane protein 8 (five membrane-spanning							22.0	25.0	24.0					16																	426741		2200	4296	6496	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:426741C>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.707G>T	16.37:g.426741C>A	ENSP00000401338:p.Gly236Val					TMEM8A_uc002cgv.3_Missense_Mutation_p.G43V	p.G236V	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN			5	836	-			236			Extracellular (Potential).		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.707G>T	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	2.757	-0.258734	0.05791	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.32515	1.9;1.45	4.1	0.772	0.18510	.	0.859069	0.10074	N	0.719378	T	0.22781	0.0550	L	0.53729	1.69	0.19775	N	0.999956	P	0.38617	0.64	B	0.32465	0.146	T	0.16897	-1.0387	10	0.44086	T	0.13	-15.6113	4.2031	0.10476	0.1236:0.4227:0.3525:0.1013	.	236	Q9HCN3	TMM8A_HUMAN	V	236;43	ENSP00000401338:G236V;ENSP00000250930:G43V	ENSP00000250930:G43V	G	-	2	0	TMEM8A	366742	0.026000	0.19158	0.108000	0.21378	0.149000	0.21700	1.313000	0.33585	0.380000	0.24823	0.305000	0.20034	GGC		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		13	29	1	0	3.27e-08	3.65e-08	13	29				
CREBBP	1387	broad.mit.edu	37	16	3820844	3820844	+	Silent	SNP	G	G	C	rs375527347		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:3820844G>C	ENST00000262367.5	-	14	3416	c.2607C>G	c.(2605-2607)ctC>ctG	p.L869L	CREBBP_ENST00000382070.3_Silent_p.L831L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	869					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGTGTGCTGGAGAGATGGCA	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2605-2607)CTC>CTG		CREB binding protein isoform a		G	,	0,4394		0,0,2197	99.0	92.0	94.0		2493,2607	-10.2	0.6	16		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CREBBP	NM_001079846.1,NM_004380.2	,	0,1,6496	CC,CG,GG		0.0116,0.0,0.0077	,	831/2405,869/2443	3820844	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3820844G>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2607C>G	16.37:g.3820844G>C						CREBBP_uc002cvw.2_Silent_p.L831L	p.L869L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	2811	-		Ovarian(90;0.0266)	869					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.2607C>G	CCDS10509.1																																																																																				0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		15	85	0	0	0	0	15	85				
COG7	91949	broad.mit.edu	37	16	23428348	23428348	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:23428348C>G	ENST00000307149.5	-	9	1417	c.1232G>C	c.(1231-1233)aGa>aCa	p.R411T		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	411					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATTGGTGAATCTGACGCATCT	0.582																																						uc002dlo.2		NA																	0					0						c.(1231-1233)AGA>ACA		component of oligomeric golgi complex 7							96.0	73.0	81.0					16																	23428348		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23428348C>G	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1232G>C	16.37:g.23428348C>G	ENSP00000305442:p.Arg411Thr						p.R411T	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	9	1420	-			411					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.1232G>C	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969627	0.34754	.	.	ENSG00000168434	ENST00000307149	T	0.41400	1.0	5.59	0.283	0.15696	.	0.222903	0.52532	D	0.000077	T	0.17704	0.0425	N	0.12182	0.205	0.23754	N	0.996934	B	0.21821	0.061	B	0.20184	0.028	T	0.14531	-1.0469	10	0.16896	T	0.51	-0.5369	4.216	0.10535	0.0:0.2545:0.1931:0.5524	.	411	P83436	COG7_HUMAN	T	411	ENSP00000305442:R411T	ENSP00000305442:R411T	R	-	2	0	COG7	23335849	0.020000	0.18652	0.010000	0.14722	0.831000	0.47069	0.425000	0.21346	0.174000	0.19809	0.655000	0.94253	AGA		0.582	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			7	109	0	0	0	0	7	109				
KIFC3	3801	broad.mit.edu	37	16	57829031	57829031	+	Silent	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:57829031G>C	ENST00000379655.4	-	3	452	c.195C>G	c.(193-195)gtC>gtG	p.V65V	KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000445690.2_Silent_p.V65V|KIFC3_ENST00000541240.1_Silent_p.V87V|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000421376.2_5'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	65					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CGTCACCGCAGACTGGGGTAT	0.647																																						uc002emp.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(193-195)GTC>GTG		kinesin family member C3 isoform 1							47.0	50.0	49.0					16																	57829031		2198	4300	6498	SO:0001819	synonymous_variant	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57829031G>C	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.195C>G	16.37:g.57829031G>C						KIFC3_uc010cdf.2_5'UTR|KIFC3_uc002emo.3_5'UTR|KIFC3_uc010vhy.1_5'UTR|KIFC3_uc002emq.2_Silent_p.V65V|KIFC3_uc010vhz.1_Silent_p.V87V|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Intron	p.V65V	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN			3	392	-		all_neural(199;0.224)	65					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.195C>G	CCDS10789.2																																																																																				0.647	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		6	53	0	0	0	0	6	53				
HYDIN	54768	broad.mit.edu	37	16	70841774	70841774	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:70841774C>T	ENST00000393567.2	-	86	15225	c.15075G>A	c.(15073-15075)aaG>aaA	p.K5025K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5025					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACCTTGGGGCTTGGGAGGCA	0.542																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(15070-15072)AAG>AAA		hydrocephalus inducing isoform a							87.0	92.0	91.0					16																	70841774		2003	4164	6167	SO:0001819	synonymous_variant	54768							g.chr16:70841774C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15075G>A	16.37:g.70841774C>T						HYDIN_uc010cfy.2_RNA	p.K5024K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			86	15200	-		Ovarian(137;0.0654)	5025					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.15072G>A	CCDS59269.1																																																																																				0.542	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	115	0	0	0	0	7	115				
MBTPS1	8720	broad.mit.edu	37	16	84093017	84093017	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:84093017C>T	ENST00000343411.3	-	21	3216	c.2721G>A	c.(2719-2721)cgG>cgA	p.R907R		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	907					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCTTGGAGTACCGATGAAGAT	0.468																																						uc002fhi.2		NA																	0				ovary(2)	2						c.(2719-2721)CGG>CGA		membrane-bound transcription factor site-1							56.0	53.0	54.0					16																	84093017		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84093017C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2721G>A	16.37:g.84093017C>T						MBTPS1_uc002fhh.2_Silent_p.R411R	p.R907R	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			21	3223	-			907			Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.2721G>A	CCDS10941.1																																																																																				0.468	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		3	52	0	0	0	0	3	52				
TSR1	55720	broad.mit.edu	37	17	2237843	2237843	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:2237843T>C	ENST00000301364.5	-	5	1983	c.904A>G	c.(904-906)Ata>Gta	p.I302V	TSR1_ENST00000576112.2_Missense_Mutation_p.I286V|SGSM2_ENST00000426855.2_5'Flank|SGSM2_ENST00000268989.3_5'Flank	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	302					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGGGCATCTATCTGTTTCATC	0.443																																						uc002fuj.2		NA																	0				ovary(1)	1						c.(904-906)ATA>GTA		TSR1, 20S rRNA accumulation							129.0	134.0	132.0					17																	2237843		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2237843T>C	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.904A>G	17.37:g.2237843T>C	ENSP00000301364:p.Ile302Val					SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank	p.I302V	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN			5	1861	-			302					Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.904A>G	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942222	0.34283	.	.	ENSG00000167721	ENST00000301364	T	0.56103	0.48	5.4	4.33	0.51752	AARP2CN (2);	0.094225	0.64402	N	0.000001	T	0.48333	0.1494	L	0.47078	1.49	0.53688	D	0.99997	B	0.24768	0.111	B	0.37015	0.239	T	0.38436	-0.9661	10	0.32370	T	0.25	-14.6936	8.0104	0.30351	0.0:0.1755:0.0:0.8245	.	302	Q2NL82	TSR1_HUMAN	V	302	ENSP00000301364:I302V	ENSP00000301364:I302V	I	-	1	0	TSR1	2184593	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.065000	0.49994	0.891000	0.36235	0.533000	0.62120	ATA		0.443	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		84	290	0	0	0	0	84	290				
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:7578524G>A	ENST00000269305.4	-	5	595	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGGCCAGTTGGCAAAACATC	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.Q136R(2)|p.Q136fs*34(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM971503	TP53	M		c.(406-408)CAA>TAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							52.0	52.0	52.0					17																	7578524		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578524G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.406C>T	17.37:g.7578524G>A	ENSP00000269305:p.Gln136*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.Q136*|TP53_uc002gih.2_Nonsense_Mutation_p.Q136*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q4*|TP53_uc010cng.1_Nonsense_Mutation_p.Q4*|TP53_uc002gii.1_Nonsense_Mutation_p.Q4*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q136*|TP53_uc010cni.1_Nonsense_Mutation_p.Q136*|TP53_uc002gij.2_Nonsense_Mutation_p.Q136*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q43*|TP53_uc002gio.2_Nonsense_Mutation_p.Q4*|TP53_uc010vug.1_Nonsense_Mutation_p.Q97*	p.Q136*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	600	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	136		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.406C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349260	0.95830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	136;136;136;136;136;136;125;43;4;43;4;136	.	ENSP00000269305:Q136X	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	58	0	0	0	0	16	58				
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:7579591C>T	ENST00000269305.4	-	4	286		c.e4-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAGGGGGACTGTAGATGGG	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.0?(7)|p.?(5)|p.S33fs*10(1)|p.P13fs*18(1)	bone(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|pancreas(3)|upper_aerodigestive_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CS971912	TP53	S		c.e4-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							141.0	137.0	138.0					17																	7579591		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579591C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.97-1G>A	17.37:g.7579591C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.S33_splice|TP53_uc002gih.2_Splice_Site_p.S33_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.S33_splice|TP53_uc010cni.1_Splice_Site_p.S33_splice|TP53_uc002gij.2_Splice_Site_p.S33_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site|TP53_uc010cnk.1_Intron	p.S33_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	291	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.97_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	6.702	0.498192	0.12762	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	2.49	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.40380	D	0.979434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6143	0.33822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520316	0.879000	0.30193	0.021000	0.16686	0.027000	0.11550	1.937000	0.40193	1.730000	0.51580	0.561000	0.74099	.		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	21	224	0	0	0	0	21	224				
ZNF286A	57335	broad.mit.edu	37	17	15611559	15611559	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:15611559C>T	ENST00000464847.2	+	4	885	c.332C>T	c.(331-333)tCa>tTa	p.S111L	ZNF286A_ENST00000585194.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000413242.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000593105.1_Missense_Mutation_p.S101L|ZNF286A_ENST00000395894.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000395893.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000472486.1_Missense_Mutation_p.S101L|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000583566.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000580259.1_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	111	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AGCAGCTATTCAGGTGAGCCA	0.423																																						uc010cot.2		NA																	0				central_nervous_system(1)	1						c.(331-333)TCA>TTA		zinc finger protein 286							53.0	54.0	53.0					17																	15611559		2203	4300	6503	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15611559C>T	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.332C>T	17.37:g.15611559C>T	ENSP00000464218:p.Ser111Leu					ZNF286A_uc002goz.3_5'UTR|ZNF286A_uc010vwa.1_Missense_Mutation_p.S111L|ZNF286A_uc002gpa.2_Missense_Mutation_p.S111L	p.S111L	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	5	728	+			111			KRAB.		B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.332C>T	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	c	13.31	2.197832	0.38806	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894;ENST00000395893	T;T;T;T	0.07567	3.54;3.18;5.54;5.59	4.85	4.85	0.62838	Krueppel-associated box (1);	8.183600	0.00633	N	0.000488	T	0.09642	0.0237	N	0.19112	0.55	0.37066	D	0.898307	B	0.26635	0.155	B	0.26094	0.066	T	0.15435	-1.0437	10	0.38643	T	0.18	-0.7981	13.6645	0.62387	0.0:1.0:0.0:0.0	.	111	Q9HBT8	Z286A_HUMAN	L	111;101;111;111	ENSP00000397163:S111L;ENSP00000408168:S101L;ENSP00000379231:S111L;ENSP00000379230:S111L	ENSP00000435872:S111L	S	+	2	0	ZNF286A	15552284	0.995000	0.38212	0.997000	0.53966	0.127000	0.20565	3.845000	0.55880	2.680000	0.91292	0.563000	0.77884	TCA		0.423	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		11	57	0	0	0	0	11	57				
TP53I13	90313	broad.mit.edu	37	17	27896346	27896346	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:27896346G>A	ENST00000301057.7	+	3	267	c.152G>A	c.(151-153)aGa>aAa	p.R51K	ABHD15_ENST00000307201.4_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	51						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GTGTCACCAAGAGTGACCTAC	0.632																																						uc002hee.2		NA																	0					0						c.(151-153)AGA>AAA		tumor protein p53 inducible protein 13							69.0	82.0	78.0					17																	27896346		2046	4191	6237	SO:0001583	missense	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27896346G>A	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.152G>A	17.37:g.27896346G>A	ENSP00000301057:p.Arg51Lys					ABHD15_uc002hed.1_5'Flank	p.R51K	NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	3	190	+			51			Extracellular (Potential).		Q7L5U3	Missense_Mutation	SNP	ENST00000301057.7	37	c.152G>A	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430491	0.43122	.	.	ENSG00000167543	ENST00000301057	.	.	.	4.61	2.56	0.30785	.	0.511682	0.20480	N	0.091515	T	0.41811	0.1175	M	0.65975	2.015	0.29244	N	0.87241	B	0.15930	0.015	B	0.19946	0.027	T	0.36138	-0.9760	9	0.35671	T	0.21	-2.6447	6.1836	0.20486	0.1021:0.1895:0.7084:0.0	.	51	Q8NBR0	P5I13_HUMAN	K	51	.	ENSP00000301057:R51K	R	+	2	0	TP53I13	24920472	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	1.817000	0.39002	0.657000	0.30906	0.462000	0.41574	AGA		0.632	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349		4	38	0	0	0	0	4	38				
SSH2	85464	broad.mit.edu	37	17	27958830	27958830	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:27958830C>G	ENST00000269033.3	-	15	3452	c.3301G>C	c.(3301-3303)Gaa>Caa	p.E1101Q	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.E1128Q	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1101					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTGTCTTCAGGGCTACTC	0.547																																						uc002heo.1		NA																	0				skin(2)	2						c.(3301-3303)GAA>CAA		slingshot 2							100.0	100.0	100.0					17																	27958830		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958830C>G	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3301G>C	17.37:g.27958830C>G	ENSP00000269033:p.Glu1101Gln					SSH2_uc010wbh.1_Missense_Mutation_p.E1128Q	p.E1101Q	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	3301	-			1101					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.3301G>C	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	7.219	0.597049	0.13875	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.11063	2.81;2.81	5.71	3.67	0.42095	.	1.834360	0.02220	N	0.063902	T	0.11281	0.0275	L	0.29908	0.895	0.19775	N	0.99995	B;B	0.24426	0.103;0.062	B;B	0.23419	0.046;0.021	T	0.38993	-0.9635	10	0.23302	T	0.38	-0.5083	10.08	0.42384	0.0:0.6561:0.2684:0.0755	.	1128;1101	F5H527;Q76I76	.;SSH2_HUMAN	Q	1101;1128	ENSP00000269033:E1101Q;ENSP00000444743:E1128Q	ENSP00000269033:E1101Q	E	-	1	0	SSH2	24982956	0.000000	0.05858	0.290000	0.24890	0.661000	0.39034	0.133000	0.15912	0.725000	0.32318	0.563000	0.77884	GAA		0.547	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		12	116	0	0	0	0	12	116				
SLFN13	146857	broad.mit.edu	37	17	33770858	33770858	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:33770858G>A	ENST00000285013.6	-	4	1423	c.1148C>T	c.(1147-1149)tCt>tTt	p.S383F	SLFN13_ENST00000526861.1_Missense_Mutation_p.S383F|SLFN13_ENST00000533791.1_Missense_Mutation_p.S383F|SLFN13_ENST00000360502.2_Missense_Mutation_p.S65F|SLFN13_ENST00000534689.1_Missense_Mutation_p.S65F|SLFN13_ENST00000542635.1_Missense_Mutation_p.S383F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	383						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCTTTCTTAGAATACACTGG	0.398																																						uc002hjk.1		NA																	0				ovary(1)|breast(1)	2						c.(1147-1149)TCT>TTT		schlafen family member 13							108.0	100.0	102.0					17																	33770858		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33770858G>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1148C>T	17.37:g.33770858G>A	ENSP00000285013:p.Ser383Phe					SLFN13_uc010wch.1_Missense_Mutation_p.S383F|SLFN13_uc002hjl.2_Missense_Mutation_p.S383F|SLFN13_uc010ctt.2_Missense_Mutation_p.S65F|SLFN13_uc002hjm.2_Missense_Mutation_p.S52F	p.S383F	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	2	1478	-			383					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.1148C>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	g	15.37	2.812296	0.50527	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	T;T;T;T;T;T	0.62788	-0.0;3.79;-0.0;-0.0;3.79;2.08	3.55	2.46	0.29980	.	0.521047	0.16294	N	0.220741	T	0.69006	0.3063	M	0.67953	2.075	0.09310	N	1	D;P	0.55800	0.973;0.917	P;P	0.57502	0.822;0.502	T	0.57452	-0.7809	10	0.59425	D	0.04	.	8.1866	0.31343	0.0:0.2483:0.7517:0.0	.	65;383	Q68D06-2;Q68D06	.;SLN13_HUMAN	F	383;65;383;383;65;52	ENSP00000285013:S383F;ENSP00000353692:S65F;ENSP00000434439:S383F;ENSP00000444016:S383F;ENSP00000435442:S65F;ENSP00000435328:S52F	ENSP00000285013:S383F	S	-	2	0	SLFN13	30794971	0.006000	0.16342	0.000000	0.03702	0.492000	0.33523	1.621000	0.36986	1.966000	0.57179	0.514000	0.50259	TCT		0.398	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		10	96	0	0	0	0	10	96				
MED1	5469	broad.mit.edu	37	17	37563769	37563769	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:37563769C>T	ENST00000300651.6	-	17	4928	c.4705G>A	c.(4705-4707)Gaa>Aaa	p.E1569K	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCATCATCTTCCTCCCCAATC	0.413										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(4705-4707)GAA>AAA		mediator complex subunit 1							123.0	115.0	117.0					17																	37563769		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37563769C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4705G>A	17.37:g.37563769C>T	ENSP00000300651:p.Glu1569Lys	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.E1397K|MED1_uc002hru.2_Intron	p.E1569K	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4917	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1569					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4705G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965547	0.74131	.	.	ENSG00000125686	ENST00000300651	T	0.44083	0.93	5.48	5.48	0.80851	.	.	.	.	.	T	0.32645	0.0836	N	0.24115	0.695	0.49299	D	0.999778	P	0.37781	0.608	B	0.32980	0.156	T	0.20773	-1.0265	9	0.59425	D	0.04	-12.5394	19.3585	0.94424	0.0:1.0:0.0:0.0	.	1569	Q15648	MED1_HUMAN	K	1569	ENSP00000300651:E1569K	ENSP00000300651:E1569K	E	-	1	0	MED1	34817295	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.854000	0.69503	2.561000	0.86390	0.655000	0.94253	GAA		0.413	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		28	96	0	0	0	0	28	96				
SMG8	55181	broad.mit.edu	37	17	57290700	57290700	+	Missense_Mutation	SNP	G	G	A	rs199568785		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:57290700G>A	ENST00000543872.2	+	4	2780	c.2516G>A	c.(2515-2517)cGa>cAa	p.R839Q	SMG8_ENST00000300917.5_Missense_Mutation_p.R839Q|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	839					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GGAAGACGGCGAGATGACATA	0.463																																						uc002ixi.2		NA																	0					0						c.(2515-2517)CGA>CAA		SMG8 protein		G	GLN/ARG	4,4402	9.9+/-24.2	0,4,2199	182.0	174.0	177.0		2516	6.0	0.9	17		177	0,8600		0,0,4300	yes	missense	SMG8	NM_018149.6	43	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	839/992	57290700	4,13002	2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290700G>A	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2516G>A	17.37:g.57290700G>A	ENSP00000438748:p.Arg839Gln						p.R839Q	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			3	2558	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		839					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2516G>A	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563049	0.86335	9.08E-4	0.0	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.44881	0.91;0.91	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	L	0.39633	1.23	0.58432	D	0.999998	D	0.71674	0.998	D	0.76575	0.988	T	0.55509	-0.8130	10	0.54805	T	0.06	-13.3457	19.3889	0.94570	0.0:0.0:1.0:0.0	.	839	Q8ND04	SMG8_HUMAN	Q	839	ENSP00000300917:R839Q;ENSP00000438748:R839Q	ENSP00000300917:R839Q	R	+	2	0	SMG8	54645482	1.000000	0.71417	0.934000	0.37439	0.994000	0.84299	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CGA		0.463	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		26	208	0	0	0	0	26	208				
ABCA10	10349	broad.mit.edu	37	17	67149444	67149444	+	Splice_Site	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:67149444A>T	ENST00000269081.4	-	35	5046		c.e35+1		ABCA10_ENST00000519732.1_Splice_Site|ABCA10_ENST00000416101.2_Splice_Site	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CACTCTCCTTACCACATTTGC	0.453																																						uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.e35+1		ATP-binding cassette, sub-family A, member 10							94.0	98.0	97.0					17																	67149444		2203	4300	6503	SO:0001630	splice_region_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67149444A>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4136+1T>A	17.37:g.67149444A>T						ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Splice_Site_p.W371_splice|ABCA10_uc010wqt.1_Splice_Site	p.W1379_splice	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			35	5015	-	Breast(10;6.95e-12)							C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Splice_Site	SNP	ENST00000269081.4	37	c.4136_splice	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	A	9.387	1.074605	0.20227	.	.	ENSG00000154263	ENST00000269081	.	.	.	3.34	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8676	0.52503	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA10	64661039	1.000000	0.71417	0.400000	0.26346	0.006000	0.05464	6.477000	0.73591	1.384000	0.46424	0.460000	0.39030	.		0.453	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	Intron	15	161	0	0	0	0	15	161				
SSTR2	6752	broad.mit.edu	37	17	71166496	71166496	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:71166496C>A	ENST00000357585.2	+	2	1407	c.1038C>A	c.(1036-1038)gaC>gaA	p.D346E	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Intron	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	346					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTAAGCAGGACAAATCCCGGC	0.537																																						uc002jje.2		NA																	0					0						c.(1036-1038)GAC>GAA		somatostatin receptor 2							69.0	62.0	65.0					17																	71166496		2203	4300	6503	SO:0001583	missense	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166496C>A		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.1038C>A	17.37:g.71166496C>A	ENSP00000350198:p.Asp346Glu						p.D346E	NM_001050	NP_001041	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	1398	+			346			Cytoplasmic (Potential).		A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.1038C>A	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	C	9.712	1.157433	0.21454	.	.	ENSG00000180616	ENST00000357585	T	0.72167	-0.63	5.19	3.18	0.36537	.	0.056395	0.64402	D	0.000002	T	0.57227	0.2039	L	0.43152	1.355	0.80722	D	1	B	0.20052	0.041	B	0.20184	0.028	T	0.48080	-0.9066	10	0.12766	T	0.61	.	9.426	0.38581	0.0:0.7703:0.0:0.2297	.	346	P30874	SSR2_HUMAN	E	346	ENSP00000350198:D346E	ENSP00000350198:D346E	D	+	3	2	SSTR2	68678091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.928000	0.40104	1.319000	0.45190	0.655000	0.94253	GAC		0.537	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			37	99	1	0	6.85e-11	7.73e-11	37	99				
BAIAP2	10458	broad.mit.edu	37	17	79058642	79058642	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:79058642C>T	ENST00000321300.6	+	4	321	c.228C>T	c.(226-228)ctC>ctT	p.L76L	BAIAP2_ENST00000428708.2_Silent_p.L76L|BAIAP2_ENST00000575245.1_Silent_p.L109L|BAIAP2_ENST00000575712.1_Silent_p.L76L|BAIAP2_ENST00000435091.3_Silent_p.L76L|BAIAP2_ENST00000392411.3_5'UTR|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000321280.7_Silent_p.L76L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	76	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGACGTTCTCTTCCAGATGG	0.622																																						uc002jzg.2		NA																	0					0						c.(226-228)CTC>CTT		BAI1-associated protein 2 isoform 2							199.0	185.0	190.0					17																	79058642		2203	4300	6503	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79058642C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.228C>T	17.37:g.79058642C>T						BAIAP2_uc002jyz.3_Silent_p.L76L|BAIAP2_uc002jza.2_Silent_p.L76L|BAIAP2_uc002jzc.2_Silent_p.L76L|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Silent_p.L76L|BAIAP2_uc002jzf.2_Silent_p.L76L|BAIAP2_uc002jze.2_Silent_p.L109L|BAIAP2_uc010wuh.1_5'UTR|BAIAP2_uc002jzh.2_5'Flank	p.L76L	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		4	336	+	all_neural(118;0.101)		76			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.228C>T	CCDS11775.1																																																																																				0.622	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			35	298	0	0	0	0	35	298				
SMCHD1	23347	broad.mit.edu	37	18	2732357	2732357	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:2732357A>T	ENST00000320876.6	+	25	3481	c.3143A>T	c.(3142-3144)aAg>aTg	p.K1048M	SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1048M|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1048					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAAGGACAAAAGGCAATTCAG	0.368																																						uc002klm.3		NA																	0					0						c.(3142-3144)AAG>ATG		structural maintenance of chromosomes flexible							149.0	136.0	140.0					18																	2732357		1867	4101	5968	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2732357A>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3143A>T	18.37:g.2732357A>T	ENSP00000326603:p.Lys1048Met					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.K1048M	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			25	3332	+			1048					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.3143A>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079462	0.55753	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27104	1.69;1.69	5.27	5.27	0.74061	.	0.120057	0.56097	D	0.000031	T	0.47116	0.1428	L	0.54323	1.7	0.42829	D	0.994012	D	0.89917	1.0	D	0.85130	0.997	T	0.48896	-0.8994	10	0.87932	D	0	-11.9836	15.1893	0.73032	1.0:0.0:0.0:0.0	.	1048	A6NHR9	SMHD1_HUMAN	M	1048	ENSP00000326603:K1048M;ENSP00000261598:K1048M	ENSP00000261598:K1048M	K	+	2	0	SMCHD1	2722357	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.229000	0.65316	1.974000	0.57490	0.533000	0.62120	AAG		0.368	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			18	121	0	0	0	0	18	121				
FECH	2235	broad.mit.edu	37	18	55218580	55218580	+	Silent	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:55218580A>G	ENST00000262093.5	-	10	1255	c.1104T>C	c.(1102-1104)gcT>gcC	p.A368A	FECH_ENST00000382873.3_Silent_p.A374A	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	368					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TAAGAGACTCAGCTCTTCTGA	0.343																																						uc002lgq.3		NA																	0				central_nervous_system(1)	1						c.(1102-1104)GCT>GCC		ferrochelatase isoform b precursor							67.0	66.0	66.0					18																	55218580		2203	4300	6503	SO:0001819	synonymous_variant	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55218580A>G	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.1104T>C	18.37:g.55218580A>G						FECH_uc002lgp.3_Silent_p.A374A|FECH_uc002lgr.3_Silent_p.A226A	p.A368A	NM_000140	NP_000131	P22830	HEMH_HUMAN			10	1221	-		Colorectal(73;0.227)	368					A8KA72|Q8IXN1|Q8NAN0	Silent	SNP	ENST00000262093.5	37	c.1104T>C	CCDS11964.1																																																																																				0.343	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			6	75	0	0	0	0	6	75				
ALPK2	115701	broad.mit.edu	37	18	56203584	56203584	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:56203584G>A	ENST00000361673.3	-	5	4048	c.3835C>T	c.(3835-3837)Cta>Tta	p.L1279L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1279						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTGCCTTTAGACTATCAGGT	0.502																																						uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3835-3837)CTA>TTA		heart alpha-kinase							145.0	132.0	136.0					18																	56203584		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203584G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3835C>T	18.37:g.56203584G>A						ALPK2_uc002lhk.1_Silent_p.L610L	p.L1279L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	4049	-			1279					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.3835C>T	CCDS11966.2																																																																																				0.502	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		29	237	0	0	0	0	29	237				
ALPK2	115701	broad.mit.edu	37	18	56203904	56203904	+	Missense_Mutation	SNP	G	G	A	rs140868694	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:56203904G>A	ENST00000361673.3	-	5	3728	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1172						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAGTGGGCCGTGGGCACCAA	0.577																																						uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3514-3516)ACG>ATG		heart alpha-kinase		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	90.0	80.0	83.0		3515	-4.1	0.0	18	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ALPK2	NM_052947.3	81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	1172/2171	56203904	3,13003	2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203904G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3515C>T	18.37:g.56203904G>A	ENSP00000354991:p.Thr1172Met					ALPK2_uc002lhk.1_Missense_Mutation_p.T503M	p.T1172M	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	3729	-			1172					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3515C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289156	0.23478	2.27E-4	2.33E-4	ENSG00000198796	ENST00000361673	T	0.41400	1.0	5.51	-4.1	0.03940	.	1.598930	0.03370	N	0.198820	T	0.22513	0.0543	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.26849	-1.0091	10	0.66056	D	0.02	4.6211	6.2896	0.21053	0.4693:0.0:0.407:0.1237	.	1167;1172	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	M	1172	ENSP00000354991:T1172M	ENSP00000354991:T1172M	T	-	2	0	ALPK2	54354884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.472000	0.06623	-1.088000	0.03077	-1.187000	0.01702	ACG		0.577	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		6	131	0	0	0	0	6	131				
CD209	30835	broad.mit.edu	37	19	7809920	7809920	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:7809920G>A	ENST00000315599.7	-	5	829	c.807C>T	c.(805-807)ttC>ttT	p.F269F	CD209_ENST00000593821.1_Silent_p.F133F|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Silent_p.F108F|CD209_ENST00000601256.1_Silent_p.F245F|CD209_ENST00000593660.1_Silent_p.F199F|CD209_ENST00000301357.8_Silent_p.F133F|CD209_ENST00000354397.6_Silent_p.F269F|CD209_ENST00000602261.1_Silent_p.F177F|CD209_ENST00000601951.1_Silent_p.F245F|CD209_ENST00000315591.8_Silent_p.F245F|CD209_ENST00000204801.8_Silent_p.F225F	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	269	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTTAGACATGAAGTAACAGT	0.562																																						uc002mht.2		NA																	0				skin(1)	1						c.(805-807)TTC>TTT		CD209 molecule isoform 1							106.0	98.0	101.0					19																	7809920		2203	4300	6503	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7809920G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.807C>T	19.37:g.7809920G>A						CD209_uc010xju.1_Silent_p.F108F|CD209_uc010dvp.2_Silent_p.F245F|CD209_uc002mhr.2_Silent_p.F245F|CD209_uc002mhs.2_Silent_p.F199F|CD209_uc002mhu.2_Silent_p.F177F|CD209_uc010dvq.2_Silent_p.F269F|CD209_uc002mhq.2_Silent_p.F269F|CD209_uc002mhv.2_Silent_p.F245F|CD209_uc002mhx.2_Silent_p.F225F|CD209_uc002mhw.2_Silent_p.F133F|CD209_uc010dvr.2_Intron	p.F269F	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			5	874	-			269			Extracellular (Probable).|C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.807C>T	CCDS12186.1																																																																																				0.562	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		20	124	0	0	0	0	20	124				
ATG4D	84971	broad.mit.edu	37	19	10664771	10664771	+	IGR	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:10664771C>T	ENST00000309469.4	+	0	1949				KRI1_ENST00000312962.6_Silent_p.R662R|MIR1238_ENST00000408483.1_RNA|KRI1_ENST00000361821.5_Silent_p.R658R	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCCCAGCAGCCGTGCCTTCT	0.647																																						uc002moy.1		NA																	0				ovary(1)	1						c.(1984-1986)CGG>CGA		KRI1 homolog							57.0	63.0	61.0					19																	10664771		2202	4298	6500	SO:0001628	intergenic_variant	65095							g.chr19:10664771C>T	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10664771C>T						KRI1_uc002mow.1_Silent_p.R281R|KRI1_uc002mox.1_Silent_p.R658R	p.R662R	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		19	1995	-			662					Q969K0	Silent	SNP	ENST00000309469.4	37	c.1986G>A	CCDS12241.1																																																																																				0.647	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		16	187	0	0	0	0	16	187				
ATG4D	84971	broad.mit.edu	37	19	10665764	10665764	+	IGR	SNP	C	C	G	rs372576878		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:10665764C>G	ENST00000309469.4	+	0	1949				KRI1_ENST00000312962.6_Splice_Site_p.E600Q|MIR1238_ENST00000408483.1_RNA|KRI1_ENST00000361821.5_Splice_Site_p.E596Q	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			actgcttactcttctCGGCAG	0.592																																						uc002moy.1		NA																	0				ovary(1)	1						c.(1798-1800)GAG>CAG		KRI1 homolog		C	GLN/GLU	0,4406		0,0,2203	55.0	52.0	53.0		1798	3.7	0.9	19		53	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	KRI1	NM_023008.3	29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	600/710	10665764	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10665764C>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10665764C>G						KRI1_uc002mow.1_Missense_Mutation_p.E219Q|KRI1_uc002mox.1_Missense_Mutation_p.E596Q	p.E600Q	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		18	1807	-			600					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1798G>C	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287309	0.59867	0.0	1.16E-4	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.09723	3.13;2.95	4.74	3.69	0.42338	.	1.172430	0.06097	N	0.664754	T	0.17280	0.0415	L	0.60455	1.87	0.30765	N	0.743608	P;P	0.48764	0.915;0.907	B;P	0.46796	0.374;0.527	T	0.03840	-1.0999	10	0.24483	T	0.36	-17.3754	9.8218	0.40887	0.0:0.9002:0.0:0.0998	.	600;596	Q8N9T8;D3YTE0	KRI1_HUMAN;.	Q	600;596	ENSP00000320917:E600Q;ENSP00000355366:E596Q	ENSP00000320917:E600Q	E	-	1	0	KRI1	10526764	0.181000	0.23161	0.927000	0.36925	0.187000	0.23431	0.395000	0.20850	2.356000	0.79943	0.563000	0.77884	GAG		0.592	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		7	83	0	0	0	0	7	83				
TNPO2	30000	broad.mit.edu	37	19	12817445	12817445	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:12817445T>A	ENST00000592287.1	-	13	1543	c.1435A>T	c.(1435-1437)Atg>Ttg	p.M479L	TNPO2_ENST00000450764.2_Missense_Mutation_p.M479L|TNPO2_ENST00000425528.1_Missense_Mutation_p.M479L|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000356861.5_Missense_Mutation_p.M479L|TNPO2_ENST00000588216.1_Missense_Mutation_p.M479L|TNPO2_ENST00000441499.1_Missense_Mutation_p.M479L	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	479					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCTGTCATCAGGGGCTTG	0.637																																						uc002muo.2		NA																	0				ovary(1)	1						c.(1435-1437)ATG>TTG		transportin 2 (importin 3, karyopherin beta 2b)							47.0	49.0	48.0					19																	12817445		2185	4281	6466	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12817445T>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1435A>T	19.37:g.12817445T>A	ENSP00000468434:p.Met479Leu					TNPO2_uc002mup.2_Missense_Mutation_p.M571L|TNPO2_uc002muq.2_Missense_Mutation_p.M479L|TNPO2_uc002mur.2_Missense_Mutation_p.M479L|SNORD41_uc002mut.1_5'Flank	p.M479L	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			13	1620	-			479			HEAT 8.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1435A>T	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.299310	0.40694	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	L	0.49455	1.56	0.80722	D	1	B;B	0.13594	0.008;0.001	B;B	0.17722	0.019;0.002	T	0.44952	-0.9294	10	0.14656	T	0.56	-19.2744	13.9666	0.64213	0.0:0.0:0.0:1.0	.	643;479	Q4LE60;O14787	.;TNPO2_HUMAN	L	643;479;479;479;479;479;479	ENSP00000407182:M479L;ENSP00000389648:M479L;ENSP00000397379:M479L;ENSP00000349321:M479L	ENSP00000349321:M479L	M	-	1	0	TNPO2	12678445	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.671000	0.83941	1.951000	0.56629	0.533000	0.62120	ATG		0.637	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		14	54	0	0	0	0	14	54				
WDR62	284403	broad.mit.edu	37	19	36562559	36562559	+	Silent	SNP	C	C	T	rs200298843	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:36562559C>T	ENST00000270301.7	+	8	984	c.984C>T	c.(982-984)ctC>ctT	p.L328L	WDR62_ENST00000401500.2_Silent_p.L328L|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Silent_p.L328L			O43379	WDR62_HUMAN	WD repeat domain 62	328					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGCACTACCTCGCCAACCTGC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20619	0.0		0.0	False		,,,				2504	0.0					uc002odc.2		NA																	0					0						c.(982-984)CTC>CTT		WD repeat domain 62 isoform 2							74.0	64.0	68.0					19																	36562559		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36562559C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.984C>T	19.37:g.36562559C>T						WDR62_uc002odd.2_Silent_p.L328L|WDR62_uc002odb.2_Silent_p.L328L	p.L328L	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		8	1075	+	Esophageal squamous(110;0.162)		328			WD 4.		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.984C>T	CCDS33001.1																																																																																				0.622	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		10	93	0	0	0	0	10	93				
ATP1A3	478	broad.mit.edu	37	19	42471887	42471887	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:42471887C>T	ENST00000302102.5	-	21	2998	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	ATP1A3_ENST00000543770.1_Missense_Mutation_p.E961K|ATP1A3_ENST00000545399.1_Missense_Mutation_p.E963K|ATP1A3_ENST00000602133.1_Missense_Mutation_p.E920K	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	950					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCGTCTCCTCAAACAGCCCG	0.667																																						uc002osg.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2848-2850)GAG>AAG		Na+/K+ -ATPase alpha 3 subunit							63.0	52.0	56.0					19																	42471887		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42471887C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2848G>A	19.37:g.42471887C>T	ENSP00000302397:p.Glu950Lys					ATP1A3_uc010xwf.1_Missense_Mutation_p.E961K|ATP1A3_uc010xwg.1_Missense_Mutation_p.E920K|ATP1A3_uc010xwh.1_Missense_Mutation_p.E963K|ATP1A3_uc002osh.2_Missense_Mutation_p.E950K	p.E950K	NM_152296	NP_689509	P13637	AT1A3_HUMAN			21	3002	-			950			Helical; (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.2848G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953230	0.73902	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	3.27	3.27	0.37495	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.231983	0.34460	N	0.003952	D	0.95765	0.8622	M	0.80028	2.48	0.80722	D	1	B;B;P;B	0.43314	0.006;0.278;0.803;0.325	B;B;P;B	0.48425	0.018;0.176;0.577;0.269	D	0.94890	0.8047	10	0.38643	T	0.18	.	12.4144	0.55486	0.0:1.0:0.0:0.0	.	963;961;950;950	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	K	950;950;963;920;961	ENSP00000302397:E950K;ENSP00000411503:E950K;ENSP00000444688:E963K;ENSP00000437577:E961K	ENSP00000302397:E950K	E	-	1	0	ATP1A3	47163727	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.643000	0.83403	1.851000	0.53745	0.462000	0.41574	GAG		0.667	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		6	47	0	0	0	0	6	47				
ZNF347	84671	broad.mit.edu	37	19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:53644064T>C	ENST00000334197.7	-	5	2085	c.2017A>G	c.(2017-2019)Aga>Gga	p.R673G	ZNF347_ENST00000452676.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAACTCTCCGATGTCTT	0.428																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NA																	0					0						c.(2017-2019)AGA>GGA		zinc finger protein 347							161.0	146.0	151.0					19																	53644064		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644064T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2017A>G	19.37:g.53644064T>C	ENSP00000334146:p.Arg673Gly					ZNF347_uc010eql.1_Missense_Mutation_p.R674G|ZNF347_uc002qbc.1_Missense_Mutation_p.R674G	p.R673G	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2086	-			673			C2H2-type 15.		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2017A>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	9.306	1.054384	0.19907	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02421	4.3;4.3	2.94	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	M	0.83692	2.655	0.09310	N	0.999998	B;P	0.38504	0.169;0.634	B;B	0.36418	0.034;0.224	T	0.23476	-1.0187	9	0.72032	D	0.01	.	5.9153	0.19052	0.0:0.2437:0.0:0.7563	.	674;673	G5E9N4;Q96SE7	.;ZN347_HUMAN	G	673;674	ENSP00000334146:R673G;ENSP00000405218:R674G	ENSP00000334146:R673G	R	-	1	2	ZNF347	58335876	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.856000	0.01662	0.362000	0.24319	-0.256000	0.11100	AGA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		4	285	0	0	0	0	4	285				
RPS5	6193	broad.mit.edu	37	19	58899511	58899511	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:58899511G>C	ENST00000596046.1	+	1	856	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	RPS5_ENST00000598495.1_Missense_Mutation_p.E3Q|RPS5_ENST00000601521.1_Missense_Mutation_p.E3Q|RPS5_ENST00000196551.3_Missense_Mutation_p.E3Q|RPS5_ENST00000598098.1_Missense_Mutation_p.E3Q|MIR4754_ENST00000582477.1_RNA			P46782	RS5_HUMAN	ribosomal protein S5	3					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CAGGATGACCGAGTGGGAGAC	0.552																																						uc002qsn.2		NA																	0					0						c.(7-9)GAG>CAG		ribosomal protein S5							63.0	51.0	55.0					19																	58899511		2203	4300	6503	SO:0001583	missense	6193				endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome	g.chr19:58899511G>C	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.7G>C	19.37:g.58899511G>C	ENSP00000472985:p.Glu3Gln					RPS5_uc002qso.2_Missense_Mutation_p.E3Q	p.E3Q	NM_001009	NP_001000	P46782	RS5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)	2	79	+		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)	3					B2R4T2|Q96BN0	Missense_Mutation	SNP	ENST00000596046.1	37	c.7G>C	CCDS12978.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296322	0.60086	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.12	3.09	0.35607	.	0.147174	0.49305	D	0.000143	T	0.33177	0.0854	N	0.14661	0.345	0.37505	D	0.916938	B	0.25521	0.128	B	0.24269	0.052	T	0.42531	-0.9446	9	0.87932	D	0	-51.4539	9.6502	0.39892	0.1066:0.0:0.8934:0.0	.	3	P46782	RS5_HUMAN	Q	3	.	ENSP00000196551:E3Q	E	+	1	0	RPS5	63591323	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	8.210000	0.89753	2.308000	0.77769	0.655000	0.94253	GAG		0.552	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009		5	35	0	0	0	0	5	35				
ZBTB45	84878	broad.mit.edu	37	19	59028386	59028386	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:59028386C>T	ENST00000594051.1	-	2	1135	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ZBTB45_ENST00000600990.1_Missense_Mutation_p.D219N|ZBTB45_ENST00000354590.3_Missense_Mutation_p.D219N			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCCTCGCCATCGGTCTCATCG	0.647											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	uc002qtd.2		NA																	0					0						c.(655-657)GAT>AAT		zinc finger and BTB domain containing 45							201.0	208.0	206.0					19																	59028386		2203	4299	6502	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028386C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.655G>A	19.37:g.59028386C>T	ENSP00000469089:p.Asp219Asn		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_uc002qte.2_Missense_Mutation_p.D219N|ZBTB45_uc002qtf.2_Missense_Mutation_p.D219N	p.D219N	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	947	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	219						Missense_Mutation	SNP	ENST00000594051.1	37	c.655G>A	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.616815	0.66672	.	.	ENSG00000119574	ENST00000354590	T	0.09073	3.02	3.23	2.13	0.27403	.	1.336380	0.05614	U	0.578588	T	0.05273	0.0140	N	0.14661	0.345	0.09310	N	1	B	0.32071	0.355	B	0.22601	0.04	T	0.39563	-0.9608	10	0.23891	T	0.37	.	9.4804	0.38898	0.2132:0.7868:0.0:0.0	.	219	Q96K62	ZBT45_HUMAN	N	219	ENSP00000346603:D219N	ENSP00000346603:D219N	D	-	1	0	ZBTB45	63720198	0.256000	0.24012	0.009000	0.14445	0.189000	0.23516	2.082000	0.41605	0.867000	0.35654	0.467000	0.42956	GAT		0.647	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		61	529	0	0	0	0	61	529				
AGBL5	60509	broad.mit.edu	37	2	27279594	27279594	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:27279594G>C	ENST00000360131.4	+	8	1628	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R490T	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	490					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGACCGTAGAGATGGCCAG	0.463																																						uc002rie.2		NA																	0				ovary(1)|breast(1)	2						c.(1468-1470)AGA>ACA		ATP/GTP binding protein-like 5 isoform 1							128.0	138.0	135.0					2																	27279594		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27279594G>C	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1469G>C	2.37:g.27279594G>C	ENSP00000353249:p.Arg490Thr					AGBL5_uc002rid.2_Missense_Mutation_p.R490T|AGBL5_uc002rif.2_RNA	p.R490T	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			8	1686	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		490					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.1469G>C	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	34	5.367455	0.95900	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.33438	1.41;1.41	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.74647	2.275	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58595	-0.7609	10	0.72032	D	0.01	-11.5189	20.4549	0.99139	0.0:0.0:1.0:0.0	.	490;490	Q8NDL9;Q8NDL9-3	CBPC5_HUMAN;.	T	490	ENSP00000323681:R490T;ENSP00000353249:R490T	ENSP00000323681:R490T	R	+	2	0	AGBL5	27133098	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	AGA		0.463	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		28	229	0	0	0	0	28	229				
CCDC88A	55704	broad.mit.edu	37	2	55589533	55589533	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:55589533C>G	ENST00000436346.1	-	7	1379	c.538G>C	c.(538-540)Gat>Cat	p.D180H	CCDC88A_ENST00000336838.6_Missense_Mutation_p.D180H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D180H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D180H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	180					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCGACATATCAGTCACTTCC	0.348																																						uc002ryv.2		NA																	0				ovary(2)|skin(2)	4						c.(538-540)GAT>CAT		coiled-coil domain containing 88A isoform 1							108.0	103.0	105.0					2																	55589533		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55589533C>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.538G>C	2.37:g.55589533C>G	ENSP00000410608:p.Asp180His					CCDC88A_uc010yoz.1_Missense_Mutation_p.D180H|CCDC88A_uc010ypa.1_Missense_Mutation_p.D180H|CCDC88A_uc010ypb.1_Missense_Mutation_p.D82H	p.D180H	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			7	1380	-			180					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.538G>C		.	.	.	.	.	.	.	.	.	.	C	19.28	3.796341	0.70567	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000430086	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;2.28	4.72	4.72	0.59763	.	0.377447	0.20496	U	0.091198	T	0.49304	0.1549	N	0.19112	0.55	0.80722	D	1	D;P;P	0.53885	0.963;0.531;0.809	P;B;P	0.59171	0.853;0.179;0.452	T	0.50651	-0.8803	10	0.51188	T	0.08	-17.348	13.8712	0.63619	0.1532:0.8467:0.0:0.0	.	180;180;180	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	H	180;180;180;180;105	ENSP00000338728:D180H;ENSP00000263630:D180H;ENSP00000410608:D180H;ENSP00000404431:D180H;ENSP00000399237:D105H	ENSP00000263630:D180H	D	-	1	0	CCDC88A	55443037	0.959000	0.32827	1.000000	0.80357	0.982000	0.71751	2.869000	0.48444	2.357000	0.79964	0.655000	0.94253	GAT		0.348	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		5	54	0	0	0	0	5	54				
EFEMP1	2202	broad.mit.edu	37	2	56144916	56144916	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:56144916C>T	ENST00000394555.2	-	4	836	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	EFEMP1_ENST00000394554.1_Missense_Mutation_p.R134Q|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R76Q|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R134Q	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	134					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAAGTTATTTCGGCCAGTCTG	0.587																																					GBM(92;934 1319 7714 28760 40110)	uc002rzh.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(400-402)CGA>CAA		EGF-containing fibulin-like extracellular matrix							60.0	59.0	59.0					2																	56144916		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56144916C>T	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.401G>A	2.37:g.56144916C>T	ENSP00000378058:p.Arg134Gln					EFEMP1_uc002rzi.2_Missense_Mutation_p.R134Q|EFEMP1_uc002rzj.2_Missense_Mutation_p.R134Q|EFEMP1_uc010ypc.1_Missense_Mutation_p.R76Q	p.R134Q	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	731	-			134					A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.401G>A	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335252	0.60853	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000424836;ENST00000355426;ENST00000438672	D;D;T;D;T	0.83673	-1.75;-1.75;-1.26;-1.75;-1.37	5.64	4.75	0.60458	.	0.000000	0.51477	D	0.000084	T	0.64405	0.2595	N	0.08118	0	0.30979	N	0.722704	P;P	0.51653	0.947;0.824	B;B	0.38428	0.273;0.203	T	0.65253	-0.6213	10	0.14656	T	0.56	.	14.9077	0.70733	0.0:0.8568:0.1432:0.0	.	76;134	B4DW75;Q12805	.;FBLN3_HUMAN	Q	134;134;76;134;134	ENSP00000378058:R134Q;ENSP00000378057:R134Q;ENSP00000399145:R76Q;ENSP00000347596:R134Q;ENSP00000392055:R134Q	ENSP00000347596:R134Q	R	-	2	0	EFEMP1	55998420	1.000000	0.71417	0.997000	0.53966	0.194000	0.23727	4.904000	0.63279	1.516000	0.48900	-0.181000	0.13052	CGA		0.587	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			17	109	0	0	0	0	17	109				
MFSD9	84804	broad.mit.edu	37	2	103353179	103353179	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:103353179C>G	ENST00000258436.5	-	1	134	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	TMEM182_ENST00000409173.1_5'Flank|TMEM182_ENST00000409528.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	31					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCCTCCGCCTCGGTTCCTGTC	0.672																																						uc002tcb.2		NA																	0				ovary(2)|breast(2)	4						c.(91-93)GAG>CAG		major facilitator superfamily domain containing							33.0	39.0	37.0					2																	103353179		2202	4299	6501	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103353179C>G		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.91G>C	2.37:g.103353179C>G	ENSP00000258436:p.Glu31Gln					TMEM182_uc002tcc.3_5'Flank|TMEM182_uc002tcd.3_5'Flank|MFSD9_uc010fja.2_RNA	p.E31Q	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			1	159	-			31					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.91G>C	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430897	0.25726	.	.	ENSG00000135953	ENST00000258436	T	0.64803	-0.12	3.76	2.86	0.33363	Major facilitator superfamily domain, general substrate transporter (1);	0.851134	0.09753	N	0.760271	T	0.39358	0.1075	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.17776	-1.0358	10	0.13470	T	0.59	.	10.2839	0.43556	0.0:0.5558:0.4442:0.0	.	31	Q8NBP5	MFSD9_HUMAN	Q	31	ENSP00000258436:E31Q	ENSP00000258436:E31Q	E	-	1	0	MFSD9	102719611	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	-0.273000	0.08548	0.885000	0.36088	0.555000	0.69702	GAG		0.672	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		6	58	0	0	0	0	6	58				
UGGT1	56886	broad.mit.edu	37	2	128865573	128865573	+	Silent	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:128865573C>G	ENST00000259253.6	+	4	386	c.339C>G	c.(337-339)ctC>ctG	p.L113L	UGGT1_ENST00000375990.3_Silent_p.L89L	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	113					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTCACCCCTCCAGCAGAATT	0.418																																						uc002tps.2		NA																	0				ovary(1)	1						c.(337-339)CTC>CTG		UDP-glucose ceramide glucosyltransferase-like 1							161.0	152.0	155.0					2																	128865573		2203	4300	6503	SO:0001819	synonymous_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128865573C>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.339C>G	2.37:g.128865573C>G						UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.2_Silent_p.L89L	p.L113L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			4	517	+			113					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	c.339C>G	CCDS2154.1																																																																																				0.418	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		26	192	0	0	0	0	26	192				
SCN1A	6323	broad.mit.edu	37	2	166868758	166868758	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:166868758G>A	ENST00000303395.4	-	19	3739	c.3740C>T	c.(3739-3741)aCg>aTg	p.T1247M	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1219M|SCN1A_ENST00000375405.3_Missense_Mutation_p.T1236M|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.T1247M			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1247					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTCTTAATCGTCTTTCGCTG	0.294																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(3706-3708)ACG>ATG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						67.0	64.0	65.0					2																	166868758		2202	4299	6501	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166868758G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3740C>T	2.37:g.166868758G>A	ENSP00000303540:p.Thr1247Met					SCN1A_uc002udo.3_Missense_Mutation_p.T1116M|SCN1A_uc010fpk.2_Missense_Mutation_p.T1088M	p.T1236M	NM_006920	NP_008851	P35498	SCN1A_HUMAN			19	3725	-			1247			III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3707C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822933	0.71028	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000008	D	0.98182	0.9399	M	0.72118	2.19	0.53005	D	0.99996	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.68039	0.955;0.63;0.891	D	0.99104	1.0844	10	0.87932	D	0	.	19.3812	0.94536	0.0:0.0:1.0:0.0	.	1236;1219;1247	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	1247;1247;1236;1219	ENSP00000407030:T1247M;ENSP00000303540:T1247M;ENSP00000364554:T1236M;ENSP00000386312:T1219M	ENSP00000303540:T1247M	T	-	2	0	SCN1A	166577004	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.552000	0.67281	2.568000	0.86640	0.557000	0.71058	ACG		0.294	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		12	42	0	0	0	0	12	42				
TTN	7273	broad.mit.edu	37	2	179497064	179497064	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:179497064C>T	ENST00000591111.1	-	186	38858	c.38634G>A	c.(38632-38634)gaG>gaA	p.E12878E	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.E11951E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.E5579E|TTN_ENST00000589042.1_Silent_p.E14519E|TTN_ENST00000342175.6_Silent_p.E5646E|TTN_ENST00000460472.2_Silent_p.E5454E			Q8WZ42	TITIN_HUMAN	titin	12878					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGAGATAACTCCACAGTAA	0.428																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(35851-35853)GAG>GAA		titin isoform N2-A							102.0	92.0	95.0					2																	179497064		1896	4127	6023	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497064C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38634G>A	2.37:g.179497064C>T						TTN_uc010zfh.1_Silent_p.E5646E|TTN_uc010zfi.1_Silent_p.E5579E|TTN_uc010zfj.1_Silent_p.E5454E	p.E11951E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		185	36077	-			12878					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.35853G>A																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	16	0	0	0	0	3	16				
TTN	7273	broad.mit.edu	37	2	179500746	179500746	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:179500746G>A	ENST00000591111.1	-	176	36853	c.36629C>T	c.(36628-36630)aCa>aTa	p.T12210I	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T11283I|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T4911I|TTN_ENST00000589042.1_Missense_Mutation_p.T13851I|TTN_ENST00000342175.6_Missense_Mutation_p.T4978I|TTN_ENST00000460472.2_Missense_Mutation_p.T4786I			Q8WZ42	TITIN_HUMAN	titin	12210	Ig-like 81.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGTAACTGTGTATGTTCC	0.468																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(33847-33849)ACA>ATA		titin isoform N2-A							116.0	118.0	117.0					2																	179500746		1986	4170	6156	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500746G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36629C>T	2.37:g.179500746G>A	ENSP00000465570:p.Thr12210Ile					TTN_uc010zfh.1_Missense_Mutation_p.T4978I|TTN_uc010zfi.1_Missense_Mutation_p.T4911I|TTN_uc010zfj.1_Missense_Mutation_p.T4786I	p.T11283I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		175	34072	-			12210					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.33848C>T		.	.	.	.	.	.	.	.	.	.	G	16.07	3.017452	0.54576	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.06068	3.35;3.35;3.35;3.35	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22859	0.0552	M	0.66297	2.02	0.58432	D	0.999996	D;D;D;D	0.56746	0.977;0.977;0.977;0.977	P;P;P;P	0.59357	0.812;0.812;0.812;0.856	T	0.00039	-1.2240	9	0.87932	D	0	.	19.8548	0.96752	0.0:0.0:1.0:0.0	.	4786;4911;4978;12210	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	11283;4786;4978;4911;4786	ENSP00000343764:T11283I;ENSP00000434586:T4786I;ENSP00000340554:T4978I;ENSP00000352154:T4911I	ENSP00000340554:T4978I	T	-	2	0	TTN	179208991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.543000	0.98089	2.704000	0.92352	0.585000	0.79938	ACA		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	163	0	0	0	0	16	163				
NEUROD1	4760	broad.mit.edu	37	2	182543116	182543116	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:182543116G>A	ENST00000295108.3	-	2	929	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	158					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTGCCTGAGCGCAGGATCTCC	0.562																																						uc002uof.2		NA																	0				ovary(1)	1						c.(472-474)CGC>TGC		neurogenic differentiation 1							79.0	76.0	77.0					2																	182543116		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543116G>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.472C>T	2.37:g.182543116G>A	ENSP00000295108:p.Arg158Cys					CERKL_uc002uod.1_Intron	p.R158C	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	708	-			158					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.472C>T	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173244	0.57584	.	.	ENSG00000162992	ENST00000295108	D	0.88975	-2.45	6.02	6.02	0.97574	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	L	0.49699	1.58	0.80722	D	1	D	0.89917	1.0	D	0.63703	0.917	D	0.92721	0.6191	10	0.87932	D	0	-16.7234	19.1109	0.93315	0.0:0.0:1.0:0.0	.	158	Q13562	NDF1_HUMAN	C	158	ENSP00000295108:R158C	ENSP00000295108:R158C	R	-	1	0	NEUROD1	182251361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.670000	0.61583	2.850000	0.98022	0.650000	0.86243	CGC		0.562	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		8	130	0	0	0	0	8	130				
WNT6	7475	broad.mit.edu	37	2	219736445	219736445	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:219736445C>T	ENST00000233948.3	+	3	757	c.540C>T	c.(538-540)gaC>gaT	p.D180D	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	180					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCGGGGACGAGAAGTCGA	0.726																																						uc002vjc.1		NA																	0				ovary(2)|skin(1)	3						c.(538-540)GAC>GAT		wingless-type MMTV integration site family,							23.0	26.0	25.0					2																	219736445		2201	4300	6501	SO:0001819	synonymous_variant	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219736445C>T	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.540C>T	2.37:g.219736445C>T							p.D180D	NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	755	+		Renal(207;0.0474)	180					Q9H1J6|Q9H238	Silent	SNP	ENST00000233948.3	37	c.540C>T	CCDS2425.1																																																																																				0.726	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		3	23	0	0	0	0	3	23				
PTPRN	5798	broad.mit.edu	37	2	220161532	220161532	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:220161532C>T	ENST00000295718.2	-	16	2489	c.2249G>A	c.(2248-2250)cGc>cAc	p.R750H	PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.R721H|PTPRN_ENST00000423636.2_Missense_Mutation_p.R660H|MIR153-1_ENST00000384914.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	750	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGTTTTATGCGGGCATGGTC	0.617																																						uc002vkz.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2248-2250)CGC>CAC		protein tyrosine phosphatase, receptor type, N							115.0	99.0	104.0					2																	220161532		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161532C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2249G>A	2.37:g.220161532C>T	ENSP00000295718:p.Arg750His					PTPRN_uc010zlc.1_Missense_Mutation_p.R660H|PTPRN_uc002vla.2_Missense_Mutation_p.R721H|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	p.R750H	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	16	2338	-		Renal(207;0.0474)	750			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.2249G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205962	0.79127	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.31769	1.48;1.48;1.48	4.24	4.24	0.50183	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86218	0.1629	10	0.87932	D	0	.	16.4513	0.83991	0.0:1.0:0.0:0.0	.	721;750	Q6NSL1;Q16849	.;PTPRN_HUMAN	H	721;750;721;660	ENSP00000386638:R721H;ENSP00000295718:R750H;ENSP00000444244:R660H	ENSP00000295718:R750H	R	-	2	0	PTPRN	219869776	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	7.198000	0.77823	2.187000	0.69744	0.563000	0.77884	CGC		0.617	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			3	46	0	0	0	0	3	46				
SIGLEC1	6614	broad.mit.edu	37	20	3673302	3673302	+	Missense_Mutation	SNP	C	C	T	rs374312370		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:3673302C>T	ENST00000344754.4	-	15	3895	c.3896G>A	c.(3895-3897)cGt>cAt	p.R1299H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1299H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1299	Ig-like C2-type 13.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGCAGCCAACGACCGTTGTG	0.657																																						uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(3895-3897)CGT>CAT		sialoadhesin precursor		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	48.0	48.0	48.0		3896	0.4	0.8	20		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIGLEC1	NM_023068.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	1299/1710	3673302	2,13004	2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673302C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3896G>A	20.37:g.3673302C>T	ENSP00000341141:p.Arg1299His					SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.R1299H	p.R1299H	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			15	3896	-			1299			Ig-like C2-type 13.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3896G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	8.378	0.836767	0.16891	2.27E-4	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.12465	2.68;2.68	5.71	0.453	0.16639	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.467748	0.16068	N	0.231163	T	0.10895	0.0266	L	0.39467	1.215	0.23260	N	0.998027	P;B	0.39847	0.691;0.438	B;B	0.38880	0.284;0.07	T	0.18398	-1.0338	10	0.38643	T	0.18	.	9.039	0.36305	0.0:0.6027:0.0:0.3973	.	1299;1299	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	H	1299	ENSP00000341141:R1299H;ENSP00000202578:R1299H	ENSP00000202578:R1299H	R	-	2	0	SIGLEC1	3621302	0.000000	0.05858	0.801000	0.32222	0.157000	0.22087	-1.331000	0.02672	0.345000	0.23873	-0.768000	0.03414	CGT		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		12	55	0	0	0	0	12	55				
JAG1	182	broad.mit.edu	37	20	10625009	10625009	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:10625009G>A	ENST00000254958.5	-	19	2883	c.2368C>T	c.(2368-2370)Ccc>Tcc	p.P790S	JAG1_ENST00000423891.2_Missense_Mutation_p.P631S|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	790	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTTACCAGGGATGAGGGCTG	0.463									Alagille Syndrome																													uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2368-2370)CCC>TCC		jagged 1 precursor							139.0	100.0	113.0					20																	10625009		2203	4300	6503	SO:0001583	missense	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10625009G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2368C>T	20.37:g.10625009G>A	ENSP00000254958:p.Pro790Ser					JAG1_uc010gcd.1_Missense_Mutation_p.P348S	p.P790S	NM_000214	NP_000205	P78504	JAG1_HUMAN			19	2884	-			790			EGF-like 15; calcium-binding (Potential).|Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.2368C>T	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015192	0.93404	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.91351	-2.83;-2.83	6.07	6.07	0.98685	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96007	0.8998	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	790	P78504	JAG1_HUMAN	S	790;631	ENSP00000254958:P790S;ENSP00000389519:P631S	ENSP00000254958:P790S	P	-	1	0	JAG1	10573009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CCC		0.463	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		4	41	0	0	0	0	4	41				
SCP2D1	140856	broad.mit.edu	37	20	18794470	18794470	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:18794470G>C	ENST00000377428.2	+	1	101	c.11G>C	c.(10-12)aGa>aCa	p.R4T	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	4																	ATGTGGAAGAGAAGTGACCAT	0.512																																						uc002wrk.2		NA																	0				skin(3)	3						c.(10-12)AGA>ACA		hypothetical protein LOC140856							110.0	104.0	106.0					20																	18794470		2203	4300	6503	SO:0001583	missense	140856						sterol binding	g.chr20:18794470G>C	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.11G>C	20.37:g.18794470G>C	ENSP00000366645:p.Arg4Thr					uc002wrj.1_Intron	p.R4T	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN			1	101	+			4					Q548A4	Missense_Mutation	SNP	ENST00000377428.2	37	c.11G>C	CCDS13139.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569698	0.45798	.	.	ENSG00000132631	ENST00000377428	T	0.31769	1.48	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000002	T	0.45657	0.1353	L	0.34521	1.04	0.35991	D	0.836715	D	0.89917	1.0	D	0.79108	0.992	T	0.52873	-0.8517	10	0.72032	D	0.01	-19.2751	15.6701	0.77267	0.0:0.0:1.0:0.0	.	4	Q9UJQ7	CT079_HUMAN	T	4	ENSP00000366645:R4T	ENSP00000366645:R4T	R	+	2	0	C20orf79	18742470	1.000000	0.71417	0.882000	0.34594	0.095000	0.18619	3.378000	0.52432	2.775000	0.95449	0.467000	0.42956	AGA		0.512	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		12	98	0	0	0	0	12	98				
SUN5	140732	broad.mit.edu	37	20	31572920	31572920	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:31572920C>T	ENST00000356173.3	-	12	1061	c.969G>A	c.(967-969)caG>caA	p.Q323Q	SUN5_ENST00000375523.3_Silent_p.Q298Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	323	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GTGGGAACATCTGGATGATGT	0.577																																						uc002wyi.2		NA																	0				skin(1)	1						c.(967-969)CAG>CAA		sperm associated antigen 4-like							117.0	109.0	112.0					20																	31572920		2203	4300	6503	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31572920C>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.969G>A	20.37:g.31572920C>T							p.Q323Q	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			12	1062	-			323			SUN.		A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.969G>A	CCDS13209.1																																																																																				0.577	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		17	153	0	0	0	0	17	153				
RBL1	5933	broad.mit.edu	37	20	35696492	35696492	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:35696492C>T	ENST00000373664.3	-	3	454	c.388G>A	c.(388-390)Gag>Aag	p.E130K	RBL1_ENST00000344359.3_Missense_Mutation_p.E130K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	130					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTAGACACCTCAAAATTTCTC	0.313																																						uc002xgi.2		NA																	0				lung(5)|skin(3)|ovary(2)	10						c.(388-390)GAG>AAG		retinoblastoma-like protein 1 isoform a							47.0	48.0	48.0					20																	35696492		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35696492C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.388G>A	20.37:g.35696492C>T	ENSP00000362768:p.Glu130Lys					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.E130K|RBL1_uc010gfv.1_RNA	p.E130K	NM_002895	NP_002886	P28749	RBL1_HUMAN			3	467	-		Myeloproliferative disorder(115;0.00878)	130					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.388G>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324943	0.95708	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	T;T	0.73681	-0.77;-0.77	5.34	5.34	0.76211	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	L	0.50333	1.59	0.80722	D	1	D;P	0.71674	0.998;0.943	P;P	0.59171	0.853;0.771	T	0.71600	-0.4544	10	0.06236	T	0.91	-5.5608	19.2283	0.93825	0.0:1.0:0.0:0.0	.	130;130	P28749-2;P28749	.;RBL1_HUMAN	K	130	ENSP00000362768:E130K;ENSP00000343646:E130K	ENSP00000343646:E130K	E	-	1	0	RBL1	35129906	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.787000	0.62432	2.779000	0.95612	0.591000	0.81541	GAG		0.313	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		8	69	0	0	0	0	8	69				
PTPRT	11122	broad.mit.edu	37	20	41408885	41408885	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:41408885C>T	ENST00000373187.1	-	4	540	c.541G>A	c.(541-543)Gag>Aag	p.E181K	PTPRT_ENST00000373184.1_Missense_Mutation_p.E181K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E181K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E181K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E181K|PTPRT_ENST00000373198.4_Missense_Mutation_p.E181K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E181K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	181	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCCGGACCTCGTCCACGGCG	0.527																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(541-543)GAG>AAG		protein tyrosine phosphatase, receptor type, T							132.0	132.0	132.0					20																	41408885		2072	4216	6288	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41408885C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.541G>A	20.37:g.41408885C>T	ENSP00000362283:p.Glu181Lys					PTPRT_uc010ggj.2_Missense_Mutation_p.E181K	p.E181K	NM_007050	NP_008981	O14522	PTPRT_HUMAN			4	725	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	181			Extracellular (Potential).|MAM.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.541G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481934	0.84747	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02177	4.41;4.41;4.41;4.41;4.41;4.41;4.41	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.199094	0.45606	D	0.000345	T	0.06690	0.0171	L	0.56769	1.78	0.80722	D	1	D;D	0.54601	0.959;0.967	B;P	0.48063	0.429;0.565	T	0.04400	-1.0954	10	0.72032	D	0.01	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	181;181	O14522-1;O14522	.;PTPRT_HUMAN	K	181	ENSP00000362286:E181K;ENSP00000362283:E181K;ENSP00000362289:E181K;ENSP00000348408:E181K;ENSP00000362294:E181K;ENSP00000362280:E181K;ENSP00000362297:E181K	ENSP00000348408:E181K	E	-	1	0	PTPRT	40842299	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.202000	0.77856	2.708000	0.92522	0.650000	0.86243	GAG		0.527	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			12	156	0	0	0	0	12	156				
LIPI	149998	broad.mit.edu	37	21	15537706	15537706	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr21:15537706G>C	ENST00000536861.1	-	6	738	c.739C>G	c.(739-741)Caa>Gaa	p.Q247E	LIPI_ENST00000344577.2_Missense_Mutation_p.Q268E			Q6XZB0	LIPI_HUMAN	lipase, member I	247					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTAATGAATTGAATTCCTTAA	0.303																																						uc002yjm.2		NA																	0				ovary(2)	2						c.(802-804)CAA>GAA		lipase, member I							58.0	61.0	60.0					21																	15537706		2203	4299	6502	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15537706G>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.739C>G	21.37:g.15537706G>C	ENSP00000440381:p.Gln247Glu					LIPI_uc010gkw.1_Missense_Mutation_p.Q171E	p.Q268E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	6	812	-			247					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.802C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.001|0.001	-2.943972|-2.943972	0.00052|0.00052	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211	D;D|.	0.90620|.	-2.7;-2.7|.	5.73|5.73	-2.13|-2.13	0.07144|0.07144	.|.	2.983030|.	0.00829|.	N|.	0.001643|.	T|.	0.08088|.	0.0202|.	N|N	0.01473|0.01473	-0.845|-0.845	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.34527|.	-0.9825|.	10|.	0.10377|.	T|.	0.69|.	.|.	3.6957|3.6957	0.08364|0.08364	0.1529:0.267:0.4308:0.1493|0.1529:0.267:0.4308:0.1493	.|.	217;268|.	G1JSG6;Q6XZB0-2|.	.;.|.	E|X	268;247;112|96	ENSP00000343331:Q268E;ENSP00000440381:Q247E|.	ENSP00000343331:Q268E|.	Q|S	-|-	1|2	0|0	LIPI|LIPI	14459577|14459577	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.023000|0.023000	0.10783|0.10783	-1.591000|-1.591000	0.02100|0.02100	-0.086000|-0.086000	0.12550|0.12550	-2.354000|-2.354000	0.00241|0.00241	CAA|TCA		0.303	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		8	105	0	0	0	0	8	105				
CECR2	27443	broad.mit.edu	37	22	18020172	18020172	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:18020172G>C	ENST00000400585.2	+	14	1516	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	CECR2_ENST00000400573.5_Missense_Mutation_p.D501H|CECR2_ENST00000262608.8_Missense_Mutation_p.D502H			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	543					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCTGGAGAAGATGGAGACAC	0.463																																						uc010gqw.1		NA																	0				ovary(1)|skin(1)	2						c.(1501-1503)GAT>CAT		cat eye syndrome chromosome region, candidate 2							34.0	36.0	36.0					22																	18020172		1892	4119	6011	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18020172G>C	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1078G>C	22.37:g.18020172G>C	ENSP00000383428:p.Asp360His					CECR2_uc010gqv.1_Missense_Mutation_p.D360H|CECR2_uc002zml.2_Missense_Mutation_p.D360H	p.D501H	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	13	1627	+		all_epithelial(15;0.139)	543					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1501G>C		.	.	.	.	.	.	.	.	.	.	G	28.3	4.908499	0.92107	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.29142	1.69;1.69;1.58	5.95	5.95	0.96441	Bromodomain (2);	0.000000	0.56097	D	0.000037	T	0.58623	0.2135	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	P;D;D	0.75484	0.843;0.986;0.986	T	0.58267	-0.7666	10	0.87932	D	0	-30.1283	20.3719	0.98893	0.0:0.0:1.0:0.0	.	543;360;501	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	H	360;501;502	ENSP00000383428:D360H;ENSP00000383417:D501H;ENSP00000262608:D502H	ENSP00000262608:D502H	D	+	1	0	CECR2	16400172	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.192000	0.94947	2.826000	0.97356	0.491000	0.48974	GAT		0.463	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		7	14	0	0	0	0	7	14				
TANGO2	128989	broad.mit.edu	37	22	20049075	20049075	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:20049075G>A	ENST00000327374.4	+	7	652	c.474G>A	c.(472-474)gcG>gcA	p.A158A	TANGO2_ENST00000432883.1_Silent_p.A96A|AC006547.13_ENST00000600937.1_RNA|AC006547.13_ENST00000598339.1_RNA|AC006547.13_ENST00000609191.1_RNA|AC006547.13_ENST00000596334.1_RNA|TANGO2_ENST00000401886.1_Silent_p.A96A|AC006547.13_ENST00000600617.1_RNA|AC006547.13_ENST00000595864.1_RNA|TANGO2_ENST00000456048.1_Silent_p.A163A|AC006547.13_ENST00000609644.1_RNA|TANGO2_ENST00000447208.2_Silent_p.A158A|TANGO2_ENST00000401833.1_Silent_p.A199A|TANGO2_ENST00000420290.2_Silent_p.A60A|AC006547.15_ENST00000600090.1_RNA|TANGO2_ENST00000398042.2_Silent_p.A96A|AC006547.13_ENST00000601746.1_RNA|AC006547.13_ENST00000608610.1_RNA|AC006547.13_ENST00000415503.1_RNA|TANGO2_ENST00000434570.2_Intron	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	158																	TGAGCAACGCGCTGCTGGAGA	0.627																																						uc010grw.1		NA																	0					0						c.(472-474)GCG>GCA		hypothetical protein LOC128989							29.0	29.0	29.0					22																	20049075		2201	4298	6499	SO:0001819	synonymous_variant	128989							g.chr22:20049075G>A		CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 25"""	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.474G>A	22.37:g.20049075G>A						C22orf25_uc002zrb.1_Silent_p.A96A|C22orf25_uc002zrc.1_Silent_p.A158A|C22orf25_uc002zrd.1_Silent_p.A124A|C22orf25_uc011ahe.1_Intron|C22orf25_uc011ahf.1_Intron|C22orf25_uc011ahg.1_Intron|C22orf25_uc002zrg.2_Silent_p.A199A|C22orf25_uc011ahh.1_Silent_p.A158A|C22orf25_uc002zrf.2_Silent_p.A96A|C22orf25_uc011ahi.1_Silent_p.A60A|C22orf25_uc010gry.1_Intron|C22orf25_uc002zrh.1_Silent_p.A60A	p.A158A	NM_152906	NP_690870	Q6ICL3	CV025_HUMAN			8	811	+	Colorectal(54;0.0533)		158					A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Silent	SNP	ENST00000327374.4	37	c.474G>A	CCDS13772.1																																																																																				0.627	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318689.2	NM_152906		3	17	0	0	0	0	3	17				
LZTR1	8216	broad.mit.edu	37	22	21347982	21347982	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:21347982A>T	ENST00000215739.8	+	12	1651	c.1292A>T	c.(1291-1293)gAg>gTg	p.E431V	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.E412V	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	431					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGCTGCACGAGGACTACGGG	0.637																																						uc002zto.2		NA																	0				ovary(2)|lung(2)	4						c.(1291-1293)GAG>GTG		leucine-zipper-like transcription regulator 1							54.0	46.0	49.0					22																	21347982		2200	4300	6500	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21347982A>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1292A>T	22.37:g.21347982A>T	ENSP00000215739:p.Glu431Val					LZTR1_uc002ztn.2_Missense_Mutation_p.E390V|LZTR1_uc011ahy.1_Missense_Mutation_p.E412V|LZTR1_uc010gsr.1_Missense_Mutation_p.E302V|LZTR1_uc002ztp.2_5'Flank	p.E431V	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		12	1395	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	431			Kelch 6.		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1292A>T	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.358350	0.82243	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.72051	-0.62;-0.62	4.7	4.7	0.59300	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	L	0.51422	1.61	0.80722	D	1	P;P;D;P	0.54047	0.877;0.918;0.964;0.948	B;P;P;P	0.52514	0.368;0.634;0.601;0.701	T	0.74934	-0.3495	10	0.66056	D	0.02	-30.2292	10.4843	0.44713	1.0:0.0:0.0:0.0	.	412;390;431;390	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	V	390;431;412	ENSP00000215739:E431V;ENSP00000374006:E412V	ENSP00000215739:E431V	E	+	2	0	LZTR1	19677982	1.000000	0.71417	0.448000	0.26945	0.826000	0.46750	8.804000	0.91921	1.969000	0.57287	0.460000	0.39030	GAG		0.637	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		11	43	0	0	0	0	11	43				
GAL3ST1	9514	broad.mit.edu	37	22	30953272	30953272	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:30953272C>T	ENST00000402321.1	-	2	425	c.108G>A	c.(106-108)ccG>ccA	p.P36P	GAL3ST1_ENST00000443111.2_Silent_p.P36P|GAL3ST1_ENST00000406361.1_Silent_p.P36P|GAL3ST1_ENST00000338911.5_Silent_p.P36P|GAL3ST1_ENST00000401975.1_Silent_p.P36P|GAL3ST1_ENST00000406955.1_Silent_p.P36P|GAL3ST1_ENST00000402369.1_Silent_p.P36P			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	36					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGGCATGCAGCGGGGGCACGG	0.647																																						uc003aig.1		NA																	0					0						c.(106-108)CCG>CCA		galactose-3-O-sulfotransferase 1							65.0	68.0	67.0					22																	30953272		2203	4300	6503	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30953272C>T	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.108G>A	22.37:g.30953272C>T						GAL3ST1_uc003aih.1_Silent_p.P36P|GAL3ST1_uc003aii.1_Silent_p.P36P|GAL3ST1_uc010gvz.1_Silent_p.P36P	p.P36P	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			3	248	-			36			Lumenal (Potential).		Q96C63	Silent	SNP	ENST00000402321.1	37	c.108G>A	CCDS13879.1																																																																																				0.647	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		9	116	0	0	0	0	9	116				
NAGA	4668	broad.mit.edu	37	22	42456988	42456988	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:42456988C>T	ENST00000396398.3	-	8	1573	c.1041G>A	c.(1039-1041)atG>atA	p.M347I	NAGA_ENST00000402937.1_Missense_Mutation_p.M347I|NAGA_ENST00000403363.1_Missense_Mutation_p.M347I	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	347					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGCGATAAGGCATATCGGTCC	0.567																																						uc003bbx.2		NA																	0				central_nervous_system(1)	1						c.(1039-1041)ATG>ATA		alpha-N-acetylgalactosaminidase precursor							127.0	108.0	114.0					22																	42456988		2203	4300	6503	SO:0001583	missense	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42456988C>T		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.1041G>A	22.37:g.42456988C>T	ENSP00000379680:p.Met347Ile					NAGA_uc003bby.2_Missense_Mutation_p.M347I|NAGA_uc003bbw.3_Missense_Mutation_p.M347I	p.M347I	NM_000262	NP_000253	P17050	NAGAB_HUMAN			9	1178	-			347						Missense_Mutation	SNP	ENST00000396398.3	37	c.1041G>A	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775747	0.31411	.	.	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	D;D;D	0.87887	-2.31;-2.31;-2.31	5.68	3.6	0.41247	Glycosyl hydrolase, family 13, all-beta (1);	0.158633	0.64402	N	0.000001	T	0.81702	0.4878	L	0.48642	1.525	0.58432	D	0.999991	B	0.02656	0.0	B	0.06405	0.002	T	0.74881	-0.3513	10	0.37606	T	0.19	-22.2738	10.6287	0.45523	0.0:0.8518:0.0:0.1482	.	347	P17050	NAGAB_HUMAN	I	347	ENSP00000379680:M347I;ENSP00000385283:M347I;ENSP00000384603:M347I	ENSP00000379680:M347I	M	-	3	0	NAGA	40786934	1.000000	0.71417	0.997000	0.53966	0.769000	0.43574	3.147000	0.50639	0.760000	0.33108	0.609000	0.83330	ATG		0.567	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			15	116	0	0	0	0	15	116				
SBF1	6305	broad.mit.edu	37	22	50898432	50898432	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:50898432G>C	ENST00000390679.3	-	26	3624	c.3440C>G	c.(3439-3441)tCt>tGt	p.S1147C	SBF1_ENST00000348911.6_Missense_Mutation_p.S1148C|SBF1_ENST00000380817.3_Missense_Mutation_p.S1147C|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1147	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGGGCTCAGACTTGGCCCG	0.662																																						uc003blh.2		NA																	0					0						c.(3439-3441)TCT>TGT		SET binding factor 1							44.0	52.0	49.0					22																	50898432		2127	4258	6385	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898432G>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3440C>G	22.37:g.50898432G>C	ENSP00000375097:p.Ser1147Cys					SBF1_uc011arx.1_Missense_Mutation_p.S811C	p.S1147C	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	26	3635	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1147			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3440C>G		.	.	.	.	.	.	.	.	.	.	G	17.70	3.454918	0.63290	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	T;T;T	0.10477	2.87;2.87;2.87	4.28	4.28	0.50868	Myotubularin phosphatase domain (1);	0.172233	0.47852	D	0.000203	T	0.17323	0.0416	L	0.45352	1.415	0.33292	D	0.563703	D;D	0.67145	0.985;0.996	P;P	0.56216	0.527;0.794	T	0.08743	-1.0707	10	0.49607	T	0.09	.	10.0063	0.41959	0.0:0.0:0.6529:0.3471	.	1147;1147	O95248;O95248-4	MTMR5_HUMAN;.	C	1147;1148;1157;1147	ENSP00000370196:S1147C;ENSP00000252027:S1148C;ENSP00000375097:S1147C	ENSP00000336522:S1157C	S	-	2	0	SBF1	49245298	0.605000	0.26941	0.982000	0.44146	0.847000	0.48162	0.914000	0.28624	2.196000	0.70406	0.561000	0.74099	TCT		0.662	SBF1-201	KNOWN	basic	protein_coding	protein_coding				15	105	0	0	0	0	15	105				
CSPG5	10675	broad.mit.edu	37	3	47619197	47619197	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:47619197C>T	ENST00000383738.2	-	2	2417	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	CSPG5_ENST00000456150.1_5'UTR|CSPG5_ENST00000465441.1_5'UTR|CSPG5_ENST00000264723.4_Missense_Mutation_p.G107S	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	107					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTCCCAGGCCTGGGCTGTCA	0.716																																						uc003crp.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(319-321)GGC>AGC		chondroitin sulfate proteoglycan 5 (neuroglycan							27.0	33.0	31.0					3																	47619197		2188	4287	6475	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47619197C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.319G>A	3.37:g.47619197C>T	ENSP00000373244:p.Gly107Ser					CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.G107S|CSPG5_uc011bbb.1_5'UTR	p.G107S	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	495	-			107			Extracellular (Potential).		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.319G>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385110	0.82792	.	.	ENSG00000114646	ENST00000383738;ENST00000264723	T;T	0.64438	-0.1;-0.1	3.79	2.82	0.32997	Chondroitin sulphate attachment (1);	0.164750	0.29715	N	0.011391	T	0.54775	0.1879	N	0.24115	0.695	0.28390	N	0.919139	D;D	0.63046	0.992;0.99	P;P	0.59056	0.851;0.768	T	0.45145	-0.9281	10	0.11182	T	0.66	-19.1064	8.6107	0.33800	0.0:0.7632:0.2368:0.0	.	107;107	O95196;O95196-2	CSPG5_HUMAN;.	S	107	ENSP00000373244:G107S;ENSP00000264723:G107S	ENSP00000264723:G107S	G	-	1	0	CSPG5	47594201	0.005000	0.15991	0.917000	0.36280	0.816000	0.46133	0.616000	0.24344	2.119000	0.64992	0.478000	0.44815	GGC		0.716	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		10	76	0	0	0	0	10	76				
CRYBG3	131544	broad.mit.edu	37	3	97596124	97596124	+	Missense_Mutation	SNP	C	C	T	rs371682309		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:97596124C>T	ENST00000182096.4	+	1	306	c.242C>T	c.(241-243)aCg>aTg	p.T81M		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2029							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTTCATGATACGTCCGCTGAC	0.423																																						uc003drx.2		NA																	0					0						c.(241-243)ACG>ATG		beta-gamma crystallin domain containing 3		C	MET/THR	0,3838		0,0,1919	53.0	52.0	53.0		6086	-7.2	0.0	3		53	1,8283		0,1,4141	no	missense	CRYBG3	XM_003118522.2	81	0,1,6060	TT,TC,CC		0.0121,0.0,0.0082	benign	2029/2971	97596124	1,12121	1919	4142	6061	SO:0001583	missense	131544							g.chr3:97596124C>T			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.242C>T	3.37:g.97596124C>T	ENSP00000182096:p.Thr81Met						p.T81M	NM_153605	NP_705833					1	306	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.242C>T		.	.	.	.	.	.	.	.	.	.	C	1.348	-0.592163	0.03799	0.0	1.21E-4	ENSG00000080200	ENST00000182096	T	0.74315	-0.83	5.6	-7.22	0.01485	.	3.232980	0.00916	N	0.002538	T	0.55641	0.1933	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.45264	-0.9273	10	0.45353	T	0.12	.	6.328	0.21255	0.3096:0.1449:0.0:0.5455	.	81	Q68DQ2	CRBG3_HUMAN	M	81	ENSP00000182096:T81M	ENSP00000182096:T81M	T	+	2	0	CRYBG3	99078814	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.195000	0.09546	-1.041000	0.03266	-1.284000	0.01376	ACG		0.423	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		12	100	0	0	0	0	12	100				
ESYT3	83850	broad.mit.edu	37	3	138178826	138178826	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:138178826G>A	ENST00000389567.4	+	6	874	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ESYT3_ENST00000289135.4_Missense_Mutation_p.V230M	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	230	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCCCCTCCTAGTGGACAAGCC	0.632																																						uc003esk.2		NA																	0					0						c.(688-690)GTG>ATG		family with sequence similarity 62 (C2 domain							71.0	70.0	70.0					3																	138178826		2203	4300	6503	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138178826G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.688G>A	3.37:g.138178826G>A	ENSP00000374218:p.Val230Met					ESYT3_uc010hug.2_RNA	p.V230M	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			6	914	+			230					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.688G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987841	0.53934	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	T;T	0.77358	-1.09;-1.09	5.08	2.08	0.27032	.	0.348277	0.30410	N	0.009689	T	0.61476	0.2350	L	0.36672	1.1	0.25886	N	0.983539	P	0.38642	0.641	B	0.34722	0.188	T	0.56774	-0.7923	10	0.52906	T	0.07	-21.0595	4.6874	0.12764	0.0869:0.1521:0.6041:0.1569	.	230	A0FGR9	ESYT3_HUMAN	M	230	ENSP00000374218:V230M;ENSP00000289135:V230M	ENSP00000289135:V230M	V	+	1	0	ESYT3	139661516	0.816000	0.29132	1.000000	0.80357	0.913000	0.54294	1.079000	0.30766	1.099000	0.41499	0.542000	0.68232	GTG		0.632	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		24	122	0	0	0	0	24	122				
VEPH1	79674	broad.mit.edu	37	3	157004456	157004456	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:157004456T>A	ENST00000362010.2	-	12	2325	c.2018A>T	c.(2017-2019)gAc>gTc	p.D673V	RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.D673V|VEPH1_ENST00000392833.2_Missense_Mutation_p.D628V|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.D628V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	673						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGTACCTGGTCCAGATCCTG	0.493																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(2017-2019)GAC>GTC		ventricular zone expressed PH domain homolog 1							136.0	121.0	126.0					3																	157004456		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157004456T>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2018A>T	3.37:g.157004456T>A	ENSP00000354919:p.Asp673Val					VEPH1_uc003fbk.1_Missense_Mutation_p.D673V|VEPH1_uc010hvu.1_Missense_Mutation_p.D628V	p.D673V	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		12	2335	-			673					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.2018A>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157104	0.78114	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.11169	3.05;2.8;3.05;2.8	6.0	4.84	0.62591	.	0.142976	0.64402	D	0.000009	T	0.23210	0.0561	M	0.62723	1.935	0.80722	D	1	P;P	0.51240	0.943;0.846	P;P	0.55508	0.777;0.475	T	0.00512	-1.1696	10	0.87932	D	0	-2.9386	10.9737	0.47454	0.0:0.0736:0.0:0.9264	.	628;673	Q14D04-2;Q14D04	.;MELT_HUMAN	V	628;673;628;673	ENSP00000376578:D628V;ENSP00000354919:D673V;ENSP00000446258:D628V;ENSP00000376577:D673V	ENSP00000354919:D673V	D	-	2	0	VEPH1	158487150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.412000	0.66392	1.099000	0.41499	0.519000	0.50382	GAC		0.493	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		10	125	0	0	0	0	10	125				
MCF2L2	23101	broad.mit.edu	37	3	182925545	182925545	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:182925545C>T	ENST00000328913.3	-	23	2860	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D855N|MCF2L2_ENST00000468976.1_5'Flank	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	855	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTATAACGATCCTTGTGAATT	0.423																																						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2563-2565)GAT>AAT		Rho family guanine-nucleotide exchange factor							124.0	121.0	122.0					3																	182925545		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182925545C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2563G>A	3.37:g.182925545C>T	ENSP00000328118:p.Asp855Asn						p.D855N	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		23	2653	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		855			PH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2563G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622638	0.87460	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01963	4.53;4.55	4.8	4.8	0.61643	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.209213	0.38663	N	0.001602	T	0.02807	0.0084	L	0.36672	1.1	0.80722	D	1	B	0.33694	0.421	B	0.35413	0.202	T	0.62158	-0.6913	10	0.27785	T	0.31	.	13.7009	0.62608	0.0:1.0:0.0:0.0	.	855	Q86YR7	MF2L2_HUMAN	N	855	ENSP00000328118:D855N;ENSP00000420070:D855N	ENSP00000328118:D855N	D	-	1	0	MCF2L2	184408239	0.959000	0.32827	0.902000	0.35471	0.971000	0.66376	2.291000	0.43540	2.370000	0.80446	0.491000	0.48974	GAT		0.423	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		20	84	0	0	0	0	20	84				
CRMP1	1400	broad.mit.edu	37	4	5862865	5862865	+	Silent	SNP	G	G	A	rs145307270		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:5862865G>A	ENST00000397890.2	-	3	415	c.201C>T	c.(199-201)ccC>ccT	p.P67P	CRMP1_ENST00000324989.7_Silent_p.P181P|CRMP1_ENST00000512574.1_Silent_p.P65P|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	67					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CAATACCTCCGGGAATAACCA	0.552																																						uc003gip.2		NA																	0				ovary(2)	2						c.(199-201)CCC>CCT		collapsin response mediator protein 1 isoform 2		G	,	1,4405	4.2+/-10.8	0,1,2202	112.0	106.0	108.0		543,201	-7.8	0.0	4	dbSNP_134	108	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	CRMP1	NM_001014809.1,NM_001313.3	,	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,	181/687,67/573	5862865	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5862865G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.201C>T	4.37:g.5862865G>A						CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Silent_p.P67P|CRMP1_uc003gir.2_Silent_p.P62P|CRMP1_uc003gis.2_Silent_p.P181P	p.P67P	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	4	302	-			67					A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000397890.2	37	c.201C>T	CCDS43207.1																																																																																				0.552	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		5	219	0	0	0	0	5	219				
PCDH7	5099	broad.mit.edu	37	4	30724332	30724332	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:30724332G>A	ENST00000361762.2	+	1	2296	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	PCDH7_ENST00000543491.1_Missense_Mutation_p.A430T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGACGGGGTGGCCAACGTGGC	0.617																																						uc003gsk.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1288-1290)GCC>ACC		protocadherin 7 isoform a precursor							45.0	42.0	43.0					4																	30724332		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724332G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1288G>A	4.37:g.30724332G>A	ENSP00000355243:p.Ala430Thr					PCDH7_uc011bxw.1_Missense_Mutation_p.A383T|PCDH7_uc011bxx.1_Missense_Mutation_p.A430T	p.A430T	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2296	+			430			Extracellular (Potential).|Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1288G>A	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.509508|4.509508	0.85282|0.85282	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.55234|.	0.53;0.53|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Cadherin (2);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.76328|0.76328	0.3972|0.3972	M|M	0.72624|0.72624	2.21|2.21	0.50813|0.50813	D|D	0.999897|0.999897	D;D;D|.	0.67145|.	0.987;0.996;0.99|.	D;D;D|.	0.68039|.	0.927;0.955;0.926|.	T|T	0.75230|0.75230	-0.3391|-0.3391	9|5	0.72032|.	D|.	0.01|.	.|.	19.3488|19.3488	0.94376|0.94376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	430;383;430|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	T|D	430;430;383|119	ENSP00000355243:A430T;ENSP00000441802:A430T|.	ENSP00000330302:A383T|.	A|G	+|+	1|2	0|0	PCDH7|PCDH7	30333430|30333430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.062000|8.062000	0.89475|0.89475	2.569000|2.569000	0.86673|0.86673	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.617	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		3	58	0	0	0	0	3	58				
PHOX2B	8929	broad.mit.edu	37	4	41748274	41748274	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:41748274G>A	ENST00000226382.2	-	3	854	c.495C>T	c.(493-495)gcC>gcT	p.A165A	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	165	Poly-Ala.				autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TCTTGGCCGCGGCCGCTGCGG	0.657			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc003gwf.3		NA	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(493-495)GCC>GCT		paired-like homeobox 2b							27.0	29.0	28.0					4																	41748274		2202	4296	6498	SO:0001819	synonymous_variant	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41748274G>A	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.495C>T	4.37:g.41748274G>A							p.A165A	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			3	855	-			165			Poly-Ala.		Q6PJD9	Silent	SNP	ENST00000226382.2	37	c.495C>T	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	2.502	-0.314963	0.05422	.	.	ENSG00000109132	ENST00000510424	.	.	.	4.61	0.849	0.18972	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	T	0.20907	-1.0261	4	.	.	.	.	1.6173	0.02706	0.1628:0.1398:0.4101:0.2872	.	.	.	.	L	105	.	.	P	-	2	0	PHOX2B	41443031	0.000000	0.05858	0.077000	0.20336	0.241000	0.25554	-1.706000	0.01895	-0.061000	0.13110	-0.947000	0.02670	CCG		0.657	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			8	35	0	0	0	0	8	35				
GRXCR1	389207	broad.mit.edu	37	4	42895345	42895345	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:42895345C>T	ENST00000399770.2	+	1	62	c.62C>T	c.(61-63)gCg>gTg	p.A21V	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	21					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.A21V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTCGGATCGCGTCCTCTCAC	0.507																																						uc003gwt.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(1)	1						c.(61-63)GCG>GTG		glutaredoxin, cysteine rich 1							118.0	125.0	123.0					4																	42895345		2018	4180	6198	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895345C>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.62C>T	4.37:g.42895345C>T	ENSP00000382670:p.Ala21Val						p.A21V	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	62	+			21						Missense_Mutation	SNP	ENST00000399770.2	37	c.62C>T	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607262	0.87157	.	.	ENSG00000215203	ENST00000399770	T	0.32023	1.47	5.63	5.63	0.86233	.	0.000000	0.85682	U	0.000000	T	0.54013	0.1832	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.51529	-0.8694	10	0.56958	D	0.05	-12.2681	18.6831	0.91554	0.0:1.0:0.0:0.0	.	21	A8MXD5	GRCR1_HUMAN	V	21	ENSP00000382670:A21V	ENSP00000382670:A21V	A	+	2	0	GRXCR1	42590102	1.000000	0.71417	0.948000	0.38648	0.545000	0.35147	7.482000	0.81143	2.649000	0.89929	0.650000	0.86243	GCG		0.507	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		5	181	0	0	0	0	5	181				
KIAA1211	57482	broad.mit.edu	37	4	57190422	57190422	+	Silent	SNP	G	G	A	rs368466580		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:57190422G>A	ENST00000504228.1	+	8	3636	c.3531G>A	c.(3529-3531)acG>acA	p.T1177T	KIAA1211_ENST00000264229.6_Silent_p.T1177T|KIAA1211_ENST00000541073.1_Silent_p.T1170T			Q6ZU35	K1211_HUMAN	KIAA1211	1177										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCTTCCTACGTCTGTGACAG	0.488																																						uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(3529-3531)ACG>ACA		hypothetical protein LOC57482		G		0,3992		0,0,1996	60.0	62.0	61.0		3531	-1.8	0.9	4		61	2,8344		0,2,4171	no	coding-synonymous	KIAA1211	NM_020722.1		0,2,6167	AA,AG,GG		0.024,0.0,0.0162		1177/1234	57190422	2,12336	1996	4173	6169	SO:0001819	synonymous_variant	57482							g.chr4:57190422G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3531G>A	4.37:g.57190422G>A						KIAA1211_uc010iha.2_Silent_p.T1170T	p.T1177T	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			10	3922	+	Glioma(25;0.08)|all_neural(26;0.101)		1177					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.3531G>A	CCDS43230.1																																																																																				0.488	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		24	63	0	0	0	0	24	63				
TMPRSS11D	9407	broad.mit.edu	37	4	68725342	68725342	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:68725342G>A	ENST00000283916.6	-	2	161	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TMPRSS11D_ENST00000545541.1_Intron|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	21					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGACGACAATGAAACATACTA	0.383																																						uc003hdq.2		NA																	0				ovary(1)	1						c.(61-63)TTC>TTT		transmembrane protease, serine 11D							107.0	96.0	100.0					4																	68725342		2203	4300	6503	SO:0001819	synonymous_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68725342G>A	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.63C>T	4.37:g.68725342G>A						LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_Intron	p.F21F	NM_004262	NP_004253	O60235	TM11D_HUMAN			2	128	-			21			Helical; Signal-anchor for type II membrane protein; (Potential).		Q08AF6	Silent	SNP	ENST00000283916.6	37	c.63C>T	CCDS3518.1																																																																																				0.383	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		5	97	0	0	0	0	5	97				
ENAM	10117	broad.mit.edu	37	4	71507743	71507743	+	Silent	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:71507743T>C	ENST00000396073.3	+	9	881	c.600T>C	c.(598-600)ttT>ttC	p.F200F	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	200					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATCCTTACTTTGGATATTTTG	0.353																																						uc011caw.1		NA																	0				ovary(3)	3						c.(598-600)TTT>TTC		enamelin precursor							130.0	141.0	138.0					4																	71507743		2167	4291	6458	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71507743T>C	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.600T>C	4.37:g.71507743T>C							p.F200F	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	881	+			200					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.600T>C	CCDS3544.2																																																																																				0.353	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		70	300	0	0	0	0	70	300				
THAP9	79725	broad.mit.edu	37	4	83839109	83839109	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:83839109G>A	ENST00000302236.5	+	5	1795	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	582					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCTCAATGCTGAGAGCTTAAA	0.333																																						uc003hnt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5						c.(1744-1746)GAG>AAG		THAP domain containing 9							40.0	40.0	40.0					4																	83839109		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83839109G>A	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1744G>A	4.37:g.83839109G>A	ENSP00000305533:p.Glu582Lys					THAP9_uc003hns.1_Missense_Mutation_p.E438K|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.E299K	p.E582K	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN			5	1863	+		Hepatocellular(203;0.114)	582					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.1744G>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	9.111	1.006455	0.19199	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.89939	-2.59	3.63	3.63	0.41609	.	0.358596	0.20333	N	0.094391	T	0.79845	0.4516	L	0.29908	0.895	0.80722	D	1	P	0.45902	0.868	B	0.40940	0.344	T	0.78907	-0.2019	10	0.02654	T	1	-16.721	13.6267	0.62168	0.0:0.0:1.0:0.0	.	582	Q9H5L6	THAP9_HUMAN	K	582	ENSP00000305533:E582K	ENSP00000305533:E582K	E	+	1	0	THAP9	84058133	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	2.189000	0.42621	2.333000	0.79357	0.655000	0.94253	GAG		0.333	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		5	90	0	0	0	0	5	90				
SCLT1	132320	broad.mit.edu	37	4	129864201	129864201	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:129864201C>G	ENST00000281142.5	-	17	2085	c.1582G>C	c.(1582-1584)Gag>Cag	p.E528Q	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	528					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTTAAACTCTCAGTCTCTTTC	0.363																																						uc003igp.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1582-1584)GAG>CAG		sodium channel associated protein 1							129.0	132.0	131.0					4																	129864201		2203	4300	6503	SO:0001583	missense	132320					centrosome		g.chr4:129864201C>G	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1582G>C	4.37:g.129864201C>G	ENSP00000281142:p.Glu528Gln					SCLT1_uc003ign.2_Missense_Mutation_p.E192Q|SCLT1_uc003igo.2_Missense_Mutation_p.E138Q|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	p.E528Q	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			17	2088	-			528			Potential.		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1582G>C	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620214	0.66787	.	.	ENSG00000151466	ENST00000281142	T	0.12879	2.64	5.31	5.31	0.75309	.	0.156610	0.56097	D	0.000035	T	0.31857	0.0810	M	0.64997	1.995	0.80722	D	1	D	0.61080	0.989	P	0.58266	0.836	T	0.00899	-1.1522	9	.	.	.	-5.9924	18.6001	0.91246	0.0:1.0:0.0:0.0	.	528	Q96NL6	SCLT1_HUMAN	Q	528	ENSP00000281142:E528Q	.	E	-	1	0	SCLT1	130083651	1.000000	0.71417	0.855000	0.33649	0.787000	0.44495	5.782000	0.68973	2.499000	0.84300	0.460000	0.39030	GAG		0.363	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		13	240	0	0	0	0	13	240				
PCDH18	54510	broad.mit.edu	37	4	138452188	138452188	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:138452188G>C	ENST00000344876.4	-	1	1441	c.1055C>G	c.(1054-1056)cCt>cGt	p.P352R	PCDH18_ENST00000412923.2_Missense_Mutation_p.P352R|PCDH18_ENST00000507846.1_Missense_Mutation_p.P132R|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	352	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTAATTTCAGGTTTATTGTC	0.358																																						uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(1054-1056)CCT>CGT		protocadherin 18 precursor							33.0	34.0	34.0					4																	138452188		2201	4298	6499	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452188G>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1055C>G	4.37:g.138452188G>C	ENSP00000355082:p.Pro352Arg					PCDH18_uc003ihf.3_Missense_Mutation_p.P345R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.P132R|PCDH18_uc011cha.1_Intron	p.P352R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	1442	-	all_hematologic(180;0.24)		352			Cadherin 3.|Extracellular (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1055C>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838839	0.71373	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	D;D;D	0.81579	-1.51;-1.51;-1.51	5.97	5.97	0.96955	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.43110	D	0.000608	D	0.95274	0.8467	H	0.99726	4.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96940	0.9687	10	0.87932	D	0	.	20.4301	0.99081	0.0:0.0:1.0:0.0	.	132;352;352	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	R	352;352;132	ENSP00000355082:P352R;ENSP00000390688:P352R;ENSP00000425903:P132R	ENSP00000355082:P352R	P	-	2	0	PCDH18	138671638	1.000000	0.71417	0.984000	0.44739	0.938000	0.57974	9.807000	0.99171	2.834000	0.97654	0.557000	0.71058	CCT		0.358	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		19	90	0	0	0	0	19	90				
MSMO1	6307	broad.mit.edu	37	4	166254491	166254491	+	Splice_Site	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:166254491G>T	ENST00000261507.6	+	2	142		c.e2-1		MSMO1_ENST00000504317.1_Splice_Site|MSMO1_ENST00000393766.2_Intron	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1						cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										CATTTCTACAGAATTATAAGG	0.294																																						uc003ire.2		NA																	0					0						c.e2-1		sterol-C4-methyl oxidase-like isoform 1	NADH(DB00157)						31.0	32.0	32.0					4																	166254491		2200	4295	6495	SO:0001630	splice_region_variant	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166254491G>T	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.-31-1G>T	4.37:g.166254491G>T						SC4MOL_uc010irb.2_Splice_Site|SC4MOL_uc003irf.2_Intron		NM_006745	NP_006736	Q15800	ERG25_HUMAN		GBM - Glioblastoma multiforme(119;0.0875)	2	100	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)						A8K8Q3|A8MYF6|D3DP32|Q32Q24	Splice_Site	SNP	ENST00000261507.6	37	c.-30_splice	CCDS3809.1																																																																																				0.294	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1	NM_006745	Intron	6	104	1	0	3.6e-05	3.96e-05	6	104				
SORBS2	8470	broad.mit.edu	37	4	186544853	186544853	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:186544853G>C	ENST00000284776.7	-	13	2227	c.1718C>G	c.(1717-1719)tCt>tGt	p.S573C	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.S573C|SORBS2_ENST00000355634.5_Missense_Mutation_p.S673C|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S477C|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	573					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGGGCGTTAGACTGGCAGCC	0.592																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	0				ovary(1)	1						c.(1717-1719)TCT>TGT		sorbin and SH3 domain containing 2 isoform 2							34.0	38.0	37.0					4																	186544853		2203	4299	6502	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544853G>C		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1718C>G	4.37:g.186544853G>C	ENSP00000284776:p.Ser573Cys					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.S673C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.S477C|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.S687C|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.S573C	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2576	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	573					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1718C>G	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511049	0.44660	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.37058	1.32;1.32;1.22;1.32	5.88	5.88	0.94601	.	0.343968	0.33959	N	0.004398	T	0.34978	0.0916	N	0.22421	0.69	0.35764	D	0.820397	D;P;D	0.53151	0.958;0.948;0.958	P;B;P	0.45712	0.491;0.41;0.491	T	0.40572	-0.9556	10	0.66056	D	0.02	-3.8026	20.2405	0.98372	0.0:0.0:1.0:0.0	.	477;673;573	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	C	573;573;477;673	ENSP00000284776:S573C;ENSP00000411764:S573C;ENSP00000397482:S477C;ENSP00000347852:S673C	ENSP00000284776:S573C	S	-	2	0	SORBS2	186781847	1.000000	0.71417	0.017000	0.16124	0.001000	0.01503	6.269000	0.72558	2.797000	0.96272	0.561000	0.74099	TCT		0.592	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		17	82	0	0	0	0	17	82				
SORBS2	8470	broad.mit.edu	37	4	186545169	186545169	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:186545169C>T	ENST00000284776.7	-	13	1911	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.E468K|SORBS2_ENST00000355634.5_Missense_Mutation_p.E568K|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.E372K|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	468					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGATCACCTCGGAGTTCATC	0.587																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	0				ovary(1)	1						c.(1402-1404)GAG>AAG		sorbin and SH3 domain containing 2 isoform 2							99.0	89.0	92.0					4																	186545169		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545169C>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1402G>A	4.37:g.186545169C>T	ENSP00000284776:p.Glu468Lys					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.E568K|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.E372K|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.E582K|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.E468K	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2260	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	468					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1402G>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252535	0.59212	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.36878	1.33;1.33;1.23;1.33	5.62	5.62	0.85841	.	0.214996	0.47852	D	0.000202	T	0.57140	0.2033	L	0.50333	1.59	0.47949	D	0.999551	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.981;0.986	T	0.55412	-0.8145	10	0.56958	D	0.05	-30.9864	19.6593	0.95859	0.0:1.0:0.0:0.0	.	372;568;468	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	K	468;468;372;568	ENSP00000284776:E468K;ENSP00000411764:E468K;ENSP00000397482:E372K;ENSP00000347852:E568K	ENSP00000284776:E468K	E	-	1	0	SORBS2	186782163	1.000000	0.71417	0.941000	0.38009	0.058000	0.15608	5.817000	0.69229	2.637000	0.89404	0.462000	0.41574	GAG		0.587	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		14	201	0	0	0	0	14	201				
ADAMTS16	170690	broad.mit.edu	37	5	5200364	5200364	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:5200364A>G	ENST00000274181.7	+	9	1571	c.1433A>G	c.(1432-1434)tAt>tGt	p.Y478C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.Y478C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	478	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCCGCCAGTATCTACACAAA	0.517																																						uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1432-1434)TAT>TGT		ADAM metallopeptidase with thrombospondin type 1							86.0	93.0	91.0					5																	5200364		1947	4166	6113	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5200364A>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1433A>G	5.37:g.5200364A>G	ENSP00000274181:p.Tyr478Cys					ADAMTS16_uc003jdk.1_Missense_Mutation_p.Y478C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.Y478C	p.Y478C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			9	1571	+			478			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1433A>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848881	0.71603	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.09163	3.01;3.01	4.76	4.76	0.60689	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	T	0.41465	0.1160	M	0.92412	3.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.997	T	0.52442	-0.8575	10	0.52906	T	0.07	.	13.5732	0.61858	1.0:0.0:0.0:0.0	.	478;478;478	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	C	478	ENSP00000274181:Y478C;ENSP00000421631:Y478C	ENSP00000274181:Y478C	Y	+	2	0	ADAMTS16	5253364	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.578000	0.90777	1.903000	0.55091	0.533000	0.62120	TAT		0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		12	111	0	0	0	0	12	111				
C7	730	broad.mit.edu	37	5	40972634	40972634	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:40972634T>G	ENST00000313164.9	+	15	2371	c.2012T>G	c.(2011-2013)tTt>tGt	p.F671C	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	671	CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CCTTCAGCATTTCTCTGTGGC	0.488																																						uc003jmh.2		NA																	0					0						c.(2011-2013)TTT>TGT		complement component 7 precursor							198.0	189.0	192.0					5																	40972634		2009	4199	6208	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40972634T>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2012T>G	5.37:g.40972634T>G	ENSP00000322061:p.Phe671Cys					C7_uc011cpn.1_RNA	p.F671C	NM_000587	NP_000578	P10643	CO7_HUMAN			15	2126	+		Ovarian(839;0.0112)	671			Sushi 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2012T>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425763	0.62733	.	.	ENSG00000112936	ENST00000313164	T	0.64991	-0.13	5.84	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (3);	0.121624	0.53938	D	0.000049	T	0.75079	0.3801	M	0.73962	2.25	0.25661	N	0.986008	D	0.69078	0.997	D	0.63113	0.911	T	0.68876	-0.5293	10	0.72032	D	0.01	-19.6252	11.4041	0.49887	0.0:0.0713:0.0:0.9287	.	671	P10643	CO7_HUMAN	C	671	ENSP00000322061:F671C	ENSP00000322061:F671C	F	+	2	0	C7	41008391	0.999000	0.42202	0.936000	0.37596	0.724000	0.41520	3.794000	0.55492	1.028000	0.39785	0.482000	0.46254	TTT		0.488	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			21	205	0	0	0	0	21	205				
NRG2	9542	broad.mit.edu	37	5	139422017	139422017	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:139422017G>A	ENST00000361474.1	-	1	862	c.638C>T	c.(637-639)cCc>cTc	p.P213L	NRG2_ENST00000289422.7_Missense_Mutation_p.P213L|NRG2_ENST00000541337.1_Missense_Mutation_p.P213L|NRG2_ENST00000358522.3_Missense_Mutation_p.P213L|NRG2_ENST00000545385.1_Missense_Mutation_p.P213L|NRG2_ENST00000289409.4_Missense_Mutation_p.P213L|NRG2_ENST00000394770.1_Missense_Mutation_p.P213L	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	213					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATCGAGGGGGGCAAAGGC	0.572																																						uc003lex.1		NA																	0				pancreas(2)|breast(2)|ovary(1)|skin(1)	6						c.(637-639)CCC>CTC		neuregulin 2 isoform 1							21.0	23.0	23.0					5																	139422017		2202	4300	6502	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422017G>A		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.638C>T	5.37:g.139422017G>A	ENSP00000354910:p.Pro213Leu					NRG2_uc003lev.1_Missense_Mutation_p.P213L|NRG2_uc003lew.1_Missense_Mutation_p.P213L|NRG2_uc003ley.1_Missense_Mutation_p.P213L	p.P213L	NM_004883	NP_004874	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	863	-			213			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000361474.1	37	c.638C>T	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616884	0.66672	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T	0.79749	-0.92;-1.1;-1.06;-1.1;-1.13;-1.3;-1.1;-1.13	4.04	4.04	0.47022	.	0.000000	0.49916	U	0.000137	D	0.86159	0.5866	L	0.52011	1.625	0.80722	D	1	D;D;D;P	0.89917	1.0;0.993;1.0;0.899	D;P;D;P	0.91635	0.999;0.88;0.999;0.661	D	0.87474	0.2416	10	0.66056	D	0.02	-1.1885	13.9789	0.64291	0.0:0.0:1.0:0.0	.	213;213;213;213	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	L	213;213;213;213;213;213;213;213;121;213	ENSP00000444235:P213L;ENSP00000289422:P213L;ENSP00000354910:P213L;ENSP00000438753:P213L;ENSP00000378251:P213L;ENSP00000289409:P213L;ENSP00000351323:P213L;ENSP00000367483:P213L	ENSP00000289409:P213L	P	-	2	0	NRG2	139402201	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	8.253000	0.89842	1.804000	0.52760	0.305000	0.20034	CCC		0.572	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		3	8	0	0	0	0	3	8				
PCDHB6	56130	broad.mit.edu	37	5	140530097	140530097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140530097G>T	ENST00000231136.1	+	1	259	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGCTAAATGAAAAACTGGA	0.517																																						uc003lir.2		NA																	0				skin(1)	1						c.(259-261)GAA>TAA		protocadherin beta 6 precursor							75.0	82.0	79.0					5																	140530097		2203	4300	6503	SO:0001587	stop_gained	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530097G>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.259G>T	5.37:g.140530097G>T	ENSP00000231136:p.Glu87*					PCDHB6_uc011dah.1_5'UTR	p.E87*	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	259	+			87			Extracellular (Potential).|Cadherin 1.		B2R8R9	Nonsense_Mutation	SNP	ENST00000231136.1	37	c.259G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445948	0.43429	.	.	ENSG00000113211	ENST00000231136	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.587	0.91194	0.0:0.0:1.0:0.0	.	.	.	.	X	87	.	ENSP00000231136:E87X	E	+	1	0	PCDHB6	140510281	0.992000	0.36948	0.858000	0.33744	0.190000	0.23558	4.848000	0.62874	2.454000	0.82982	0.561000	0.74099	GAA		0.517	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		22	170	1	0	2.4e-15	2.73e-15	22	170				
PCDHB6	56130	broad.mit.edu	37	5	140530481	140530481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140530481G>C	ENST00000231136.1	+	1	643	c.643G>C	c.(643-645)Gat>Cat	p.D215H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D79H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATCGCGCTGGATGGCGGGTC	0.602																																						uc003lir.2		NA																	0				skin(1)	1						c.(643-645)GAT>CAT		protocadherin beta 6 precursor							52.0	56.0	55.0					5																	140530481		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530481G>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.643G>C	5.37:g.140530481G>C	ENSP00000231136:p.Asp215His					PCDHB6_uc011dah.1_Missense_Mutation_p.D79H	p.D215H	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	643	+			215			Cadherin 2.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.643G>C	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114166	0.77210	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.68903	-0.36;-0.36	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90889	0.7137	H	0.99877	4.88	0.50813	D	0.999891	D	0.89917	1.0	D	0.97110	1.0	D	0.95427	0.8513	9	0.87932	D	0	.	18.3285	0.90261	0.0:0.0:1.0:0.0	.	215	Q9Y5E3	PCDB6_HUMAN	H	79;215	ENSP00000438466:D79H;ENSP00000231136:D215H	ENSP00000231136:D215H	D	+	1	0	PCDHB6	140510665	1.000000	0.71417	0.985000	0.45067	0.747000	0.42532	6.766000	0.74970	2.394000	0.81467	0.561000	0.74099	GAT		0.602	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		6	92	0	0	0	0	6	92				
PCDHGA12	26025	broad.mit.edu	37	5	140810927	140810927	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140810927G>A	ENST00000252085.3	+	1	743	c.601G>A	c.(601-603)Gac>Aac	p.D201N	PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	201	Cadherin 2. {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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCCTGGACCGCGAAGA	0.627																																						uc003lkt.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(601-603)GAC>AAC		protocadherin gamma subfamily A, 12 isoform 1							82.0	85.0	84.0					5																	140810927		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140810927G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.601G>A	5.37:g.140810927G>A	ENSP00000252085:p.Asp201Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.D201N	p.D201N	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	770	+			201			Extracellular (Potential).|Cadherin 2.		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.601G>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	32	5.120764	0.94385	.	.	ENSG00000253159	ENST00000252085	T	0.63417	-0.04	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.86719	0.6000	H	0.96720	3.87	0.43271	D	0.995226	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90831	0.4716	9	0.87932	D	0	.	18.6971	0.91605	0.0:0.0:1.0:0.0	.	201;201	O60330-2;O60330	.;PCDGC_HUMAN	N	201	ENSP00000252085:D201N	ENSP00000252085:D201N	D	+	1	0	PCDHGA12	140791111	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.654000	0.98509	2.748000	0.94277	0.655000	0.94253	GAC		0.627	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		46	179	0	0	0	0	46	179				
PCDHGA12	26025	broad.mit.edu	37	5	140812206	140812206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140812206G>A	ENST00000252085.3	+	1	2022	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	627	Cadherin 6. {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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGGTGCGCACGGCGCGA	0.687																																						uc003lkt.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1879-1881)CGC>CAC		protocadherin gamma subfamily A, 12 isoform 1							30.0	37.0	35.0					5																	140812206		2156	4215	6371	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140812206G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1880G>A	5.37:g.140812206G>A	ENSP00000252085:p.Arg627His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R627H	p.R627H	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2049	+			627			Cadherin 6.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1880G>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.946955	0.73672	.	.	ENSG00000253159	ENST00000252085	T	0.52754	0.65	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60143	0.2246	M	0.85630	2.765	0.28907	N	0.892908	P;P	0.49696	0.927;0.622	P;B	0.47118	0.538;0.431	T	0.64698	-0.6346	9	0.87932	D	0	.	13.2298	0.59936	0.0796:0.0:0.9204:0.0	.	627;627	O60330-2;O60330	.;PCDGC_HUMAN	H	627	ENSP00000252085:R627H	ENSP00000252085:R627H	R	+	2	0	PCDHGA12	140792390	0.452000	0.25713	1.000000	0.80357	0.943000	0.58893	3.359000	0.52292	2.515000	0.84797	0.556000	0.70494	CGC		0.687	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		10	112	0	0	0	0	10	112				
ATP10B	23120	broad.mit.edu	37	5	160097667	160097667	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:160097667G>T	ENST00000327245.5	-	7	1324	c.478C>A	c.(478-480)Cag>Aag	p.Q160K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	160					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Q160K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATAGGTCTGCTCTTTTCTT	0.458																																						uc003lym.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(478-480)CAG>AAG		ATPase, class V, type 10B							108.0	110.0	109.0					5																	160097667		2023	4187	6210	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160097667G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.478C>A	5.37:g.160097667G>T	ENSP00000313600:p.Gln160Lys					ATP10B_uc003lyp.2_Missense_Mutation_p.Q160K|ATP10B_uc011deg.1_Missense_Mutation_p.Q204K|ATP10B_uc003lyo.2_Missense_Mutation_p.Q132K	p.Q160K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1325	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	160			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.478C>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.213153	0.00289	.	.	ENSG00000118322	ENST00000327245	D	0.87729	-2.29	5.13	2.11	0.27256	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.490824	0.19392	N	0.115394	T	0.69151	0.3079	N	0.02751	-0.505	0.09310	N	1	B;B;B;B	0.14012	0.009;0.0;0.007;0.009	B;B;B;B	0.13407	0.007;0.003;0.002;0.009	T	0.53099	-0.8486	9	.	.	.	.	13.0905	0.59164	0.0:0.0:0.4533:0.5467	.	204;160;132;160	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	K	160	ENSP00000313600:Q160K	.	Q	-	1	0	ATP10B	160030245	0.933000	0.31639	0.559000	0.28332	0.064000	0.16182	2.278000	0.43426	0.643000	0.30638	-0.291000	0.09656	CAG		0.458	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		24	164	1	0	9.81e-20	1.13e-19	24	164				
TENM2	57451	broad.mit.edu	37	5	167674088	167674088	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:167674088C>T	ENST00000518659.1	+	27	6183	c.6144C>T	c.(6142-6144)gtC>gtT	p.V2048V	TENM2_ENST00000545108.1_Silent_p.V2047V|TENM2_ENST00000520394.1_Silent_p.V1809V|TENM2_ENST00000519204.1_Silent_p.V1927V|TENM2_ENST00000403607.2_Silent_p.V1872V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2048					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCACTGGTGTCTTGAAGATGG	0.537																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(6115-6117)GTC>GTT		odz, odd Oz/ten-m homolog 2							80.0	80.0	80.0					5																	167674088		1936	4145	6081	SO:0001819	synonymous_variant	57451							g.chr5:167674088C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6144C>T	5.37:g.167674088C>T						ODZ2_uc003lzr.3_Silent_p.V1809V|ODZ2_uc003lzt.3_Silent_p.V1412V|ODZ2_uc010jje.2_Silent_p.V1303V	p.V2039V	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	6117	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.6117C>T																																																																																					0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		17	152	0	0	0	0	17	152				
COL23A1	91522	broad.mit.edu	37	5	177697340	177697340	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:177697340G>A	ENST00000390654.3	-	6	823	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	COL23A1_ENST00000407622.1_Missense_Mutation_p.P120S	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	156	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCACTTACGGGCTTGCCATCC	0.597																																						uc003mje.2		NA																	1	Unknown(1)		breast(1)	central_nervous_system(1)|skin(1)	2						c.(466-468)CCC>TCC		collagen, type XXIII, alpha 1							49.0	55.0	53.0					5																	177697340		1937	4133	6070	SO:0001583	missense	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177697340G>A	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.466C>T	5.37:g.177697340G>A	ENSP00000375069:p.Pro156Ser					COL23A1_uc010jkt.2_Silent_p.S3S	p.P156S	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	6	824	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	156			Extracellular (Potential).|Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.466C>T	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389399	0.42410	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.94793	-3.29;-3.52	4.35	4.35	0.52113	.	0.310771	0.23872	N	0.043726	D	0.93517	0.7931	M	0.80332	2.49	0.40503	D	0.980665	B	0.22414	0.069	B	0.13407	0.009	D	0.92590	0.6082	10	0.59425	D	0.04	-1.3303	12.5871	0.56424	0.0:0.0:1.0:0.0	.	156	Q86Y22	CONA1_HUMAN	S	156;120	ENSP00000375069:P156S;ENSP00000385092:P120S	ENSP00000375069:P156S	P	-	1	0	COL23A1	177629946	1.000000	0.71417	0.997000	0.53966	0.861000	0.49209	5.184000	0.65070	2.437000	0.82529	0.491000	0.48974	CCC		0.597	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		6	39	0	0	0	0	6	39				
HIST1H3C	8352	broad.mit.edu	37	6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:26045748A>T	ENST00000540144.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632																																						uc003nfv.2		NA																	0				ovary(1)	1						c.(109-111)AAG>ATG		histone cluster 1, H3c							44.0	47.0	46.0					6																	26045748		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045748A>T	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.110A>T	6.37:g.26045748A>T	ENSP00000439493:p.Lys37Met					HIST1H2BB_uc003nfu.2_5'Flank	p.K37M	NM_003531	NP_003522	P68431	H31_HUMAN			1	110	+			37					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.110A>T	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157156	0.38119	.	.	ENSG00000196532	ENST00000540144	T	0.56776	0.44	4.67	4.67	0.58626	.	.	.	.	.	T	0.58581	0.2132	.	.	.	0.42229	D	0.991889	.	.	.	.	.	.	T	0.65446	-0.6166	6	0.87932	D	0	.	13.9855	0.64331	1.0:0.0:0.0:0.0	.	.	.	.	M	37	ENSP00000439493:K37M	ENSP00000439493:K37M	K	+	2	0	HIST1H3C	26153727	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	6.203000	0.72137	2.045000	0.60652	0.482000	0.46254	AAG		0.632	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		16	80	0	0	0	0	16	80				
HIST1H2AC	8334	broad.mit.edu	37	6	26124629	26124629	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:26124629G>C	ENST00000602637.1	+	1	199	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57Q|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_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																																						uc003ngm.2		NA																	0					0						c.(169-171)GAG>CAG		histone cluster 1, H2ac							50.0	51.0	51.0					6																	26124629		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124629G>C	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>C	6.37:g.26124629G>C	ENSP00000473534:p.Glu57Gln					HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.E57Q	p.E57Q	NM_003512	NP_003503	Q93077	H2A1C_HUMAN			1	257	+			57					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.169G>C	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.690489	0.88735	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.61859	0.07;0.07	5.78	5.78	0.91487	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44902	D	0.000401	D	0.82481	0.5046	H	0.95114	3.625	0.48632	D	0.999688	D	0.89917	1.0	D	0.97110	1.0	D	0.86518	0.1814	10	0.87932	D	0	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	57	Q93077	H2A1C_HUMAN	Q	57	ENSP00000367022:E57Q;ENSP00000321389:E57Q	ENSP00000321389:E57Q	E	+	1	0	HIST1H2AC	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		0.662	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		10	46	0	0	0	0	10	46				
ZKSCAN3	80317	broad.mit.edu	37	6	28333970	28333970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:28333970C>T	ENST00000377255.3	+	7	1822	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	ZKSCAN3_ENST00000252211.2_Nonsense_Mutation_p.Q509*|ZKSCAN3_ENST00000341464.5_Nonsense_Mutation_p.Q361*	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	509					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GAAACCCTATCAGTGTAATGC	0.413																																						uc003nle.3		NA																	0				skin(2)	2						c.(1525-1527)CAG>TAG		zinc finger with KRAB and SCAN domains 3							90.0	91.0	91.0					6																	28333970		2203	4300	6503	SO:0001587	stop_gained	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333970C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1525C>T	6.37:g.28333970C>T	ENSP00000366465:p.Gln509*					ZKSCAN3_uc010jrc.2_Nonsense_Mutation_p.Q509*|ZKSCAN3_uc003nlf.3_Nonsense_Mutation_p.Q361*|uc010jrd.2_5'Flank	p.Q509*	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			6	1741	+			509			C2H2-type 7.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Nonsense_Mutation	SNP	ENST00000377255.3	37	c.1525C>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480006	0.84747	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	.	.	.	3.67	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1092	0.20092	0.3313:0.4822:0.1865:0.0	.	.	.	.	X	509;361;509	.	ENSP00000252211:Q509X	Q	+	1	0	ZKSCAN3	28441949	0.000000	0.05858	0.988000	0.46212	0.860000	0.49131	-2.546000	0.00932	0.840000	0.34995	0.655000	0.94253	CAG		0.413	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		7	78	0	0	0	0	7	78				
CFB	629	broad.mit.edu	37	6	31918538	31918538	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:31918538C>T	ENST00000425368.2	+	13	2280	c.1767C>T	c.(1765-1767)ggC>ggT	p.G589G	CFB_ENST00000556679.1_Silent_p.G1091G|CFB_ENST00000456570.1_Silent_p.G1091G|CFB_ENST00000477310.1_Silent_p.G940G	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	589	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGAAATATGGCCAGACTATCA	0.483																																						uc003nyj.3		NA																	0				skin(1)	1						c.(1765-1767)GGC>GGT		complement factor B preproprotein							138.0	154.0	148.0					6																	31918538		1508	2709	4217	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31918538C>T	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1767C>T	6.37:g.31918538C>T						CFB_uc011dor.1_Silent_p.G1091G	p.G589G	NM_001710	NP_001701	P00751	CFAB_HUMAN			13	2045	+			589			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	37	c.1767C>T	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.086999	0.07097	.	.	ENSG00000243649	ENST00000483004	.	.	.	5.46	-0.0807	0.13705	.	.	.	.	.	T	0.07458	0.0188	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.35549	-0.9784	4	.	.	.	0.0068	1.3146	0.02104	0.2887:0.3954:0.1405:0.1754	.	.	.	.	V	130	.	.	A	+	2	0	CFB	32026517	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.561000	0.05957	-0.041000	0.13558	0.491000	0.48974	GCC		0.483	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		4	149	0	0	0	0	4	149				
C6orf165	154313	broad.mit.edu	37	6	88127960	88127960	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:88127960C>T	ENST00000507897.1	+	7	749	c.666C>T	c.(664-666)acC>acT	p.T222T	C6ORF165_ENST00000369562.4_Silent_p.T222T			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	222										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCCCAGCCACCATGCAGCATA	0.493																																						uc003plv.2		NA																	0				central_nervous_system(1)	1						c.(664-666)ACC>ACT		hypothetical protein LOC154313 isoform 1							78.0	66.0	70.0					6																	88127960		2203	4300	6503	SO:0001819	synonymous_variant	154313							g.chr6:88127960C>T	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.666C>T	6.37:g.88127960C>T						C6orf165_uc003plw.2_Silent_p.T34T|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Silent_p.T222T	p.T222T	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	7	758	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	222					A8K969|E1P507|Q8N9U4	Silent	SNP	ENST00000507897.1	37	c.666C>T	CCDS34498.1																																																																																				0.493	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		11	89	0	0	0	0	11	89				
MDN1	23195	broad.mit.edu	37	6	90387317	90387317	+	Missense_Mutation	SNP	C	C	T	rs373882628		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:90387317C>T	ENST00000369393.3	-	76	12626	c.12511G>A	c.(12511-12513)Gtc>Atc	p.V4171I	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.V4171I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4171					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGCTGCTGACGATGGACAAT	0.433																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(12511-12513)GTC>ATC		MDN1, midasin homolog		C	ILE/VAL	0,4406		0,0,2203	138.0	134.0	136.0		12511	5.2	1.0	6		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	MDN1	NM_014611.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	4171/5597	90387317	1,13005	2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90387317C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12511G>A	6.37:g.90387317C>T	ENSP00000358400:p.Val4171Ile						p.V4171I	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	76	12627	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4171					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.12511G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796238	0.31777	0.0	1.16E-4	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03094	4.05;4.05	5.19	5.19	0.71726	.	0.078092	0.49916	D	0.000125	T	0.01156	0.0038	L	0.56769	1.78	0.27884	N	0.939576	P	0.48230	0.907	B	0.31016	0.123	T	0.47761	-0.9092	10	0.17832	T	0.49	.	8.1873	0.31346	0.1572:0.7635:0.0:0.0792	.	4171	Q9NU22	MDN1_HUMAN	I	4171	ENSP00000358400:V4171I;ENSP00000413970:V4171I	ENSP00000358400:V4171I	V	-	1	0	MDN1	90444038	0.984000	0.35163	1.000000	0.80357	0.733000	0.41908	2.547000	0.45786	2.399000	0.81585	0.555000	0.69702	GTC		0.433	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			19	113	0	0	0	0	19	113				
FGFR1OP	11116	broad.mit.edu	37	6	167427050	167427050	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:167427050G>A	ENST00000366847.4	+	7	805	c.574G>A	c.(574-576)Gac>Aac	p.D192N	FGFR1OP_ENST00000349556.4_Intron|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	192					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		GAAGGCTGGTGACAAGGTAAC	0.488			T	FGFR1	"""MPD, NHL"""																																	uc003qvj.2		NA		Dom	yes		6	6q27	11116	T	FGFR1 oncogene partner (FOP)			L	FGFR1		MPD|NHL		0				ovary(1)	1						c.(574-576)GAC>AAC		FGFR1 oncogene partner isoform a							91.0	92.0	92.0					6																	167427050		2203	4300	6503	SO:0001583	missense	11116				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:167427050G>A	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.574G>A	6.37:g.167427050G>A	ENSP00000355812:p.Asp192Asn					CCR6_uc003qvl.2_Intron|FGFR1OP_uc011egp.1_Intron|FGFR1OP_uc003qvk.2_Intron	p.D192N	NM_007045	NP_008976	O95684	FR1OP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)	7	659	+		Breast(66;1.48e-05)|Ovarian(120;0.0607)	192					A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Missense_Mutation	SNP	ENST00000366847.4	37	c.574G>A	CCDS5296.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145987	0.37923	.	.	ENSG00000213066	ENST00000366847	T	0.30448	1.53	5.35	5.35	0.76521	.	0.370889	0.26867	N	0.022095	T	0.11750	0.0286	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06789	-1.0807	10	0.17832	T	0.49	-3.5497	15.7929	0.78380	0.0:0.0:1.0:0.0	.	192	O95684	FR1OP_HUMAN	N	192	ENSP00000355812:D192N	ENSP00000355812:D192N	D	+	1	0	FGFR1OP	167347040	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.540000	0.53611	2.494000	0.84150	0.551000	0.68910	GAC		0.488	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045		6	97	0	0	0	0	6	97				
AGMO	392636	broad.mit.edu	37	7	15427042	15427042	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:15427042C>T	ENST00000342526.3	-	9	1115	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	316					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.E316*(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCTGGAATTTCTTCACTGAGA	0.438																																						uc003stb.1		NA																	1	Substitution - Nonsense(1)		large_intestine(1)		0						c.(946-948)GAA>AAA		transmembrane protein 195							134.0	129.0	131.0					7																	15427042		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15427042C>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.946G>A	7.37:g.15427042C>T	ENSP00000341662:p.Glu316Lys						p.E316K	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			9	1116	-			316					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.946G>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765489	0.69878	.	.	ENSG00000187546	ENST00000342526	T	0.28255	1.62	5.52	5.52	0.82312	.	0.279247	0.39274	N	0.001415	T	0.29491	0.0735	L	0.41710	1.295	0.46131	D	0.998881	B	0.06786	0.001	B	0.09377	0.004	T	0.03394	-1.1041	10	0.27785	T	0.31	-13.256	19.4557	0.94886	0.0:1.0:0.0:0.0	.	316	Q6ZNB7	ALKMO_HUMAN	K	316	ENSP00000341662:E316K	ENSP00000341662:E316K	E	-	1	0	AGMO	15393567	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.130000	0.71663	2.599000	0.87857	0.655000	0.94253	GAA		0.438	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		17	256	0	0	0	0	17	256				
NME8	51314	broad.mit.edu	37	7	37916515	37916515	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:37916515G>C	ENST00000199447.4	+	12	1272	c.900G>C	c.(898-900)atG>atC	p.M300I	NME8_ENST00000440017.1_Missense_Mutation_p.M300I|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	300					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CTAAGTTCATGGATGCTTTCT	0.353																																						uc003tfn.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(898-900)ATG>ATC		thioredoxin domain containing 3							66.0	68.0	67.0					7																	37916515		2203	4299	6502	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37916515G>C	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.900G>C	7.37:g.37916515G>C	ENSP00000199447:p.Met300Ile						p.M300I	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			12	1272	+			300					Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.900G>C	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.004587	0.00044	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.34275	1.37;1.37	3.91	-1.35	0.09114	.	1.124180	0.06807	N	0.789779	T	0.10594	0.0259	N	0.01188	-0.97	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27331	-1.0077	10	0.10377	T	0.69	-5.5089	4.217	0.10539	0.0:0.1922:0.3632:0.4446	.	300	Q8N427	TXND3_HUMAN	I	300	ENSP00000199447:M300I;ENSP00000397063:M300I	ENSP00000199447:M300I	M	+	3	0	TXNDC3	37883040	0.920000	0.31207	0.004000	0.12327	0.000000	0.00434	0.245000	0.18142	-0.218000	0.10018	-1.338000	0.01255	ATG		0.353	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		7	72	0	0	0	0	7	72				
HEPACAM2	253012	broad.mit.edu	37	7	92838082	92838082	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:92838082G>T	ENST00000394468.2	-	4	900	c.823C>A	c.(823-825)Cat>Aat	p.H275N	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.H298N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.H263N|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.H263N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	275	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTGGGGGGATGAGAATCAGCA	0.433																																						uc003umm.2		NA																	0				ovary(3)|breast(1)|kidney(1)	5						c.(823-825)CAT>AAT		HEPACAM family member 2 isoform 1							142.0	136.0	138.0					7																	92838082		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92838082G>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.823C>A	7.37:g.92838082G>T	ENSP00000377980:p.His275Asn					HEPACAM2_uc003uml.2_Missense_Mutation_p.H263N|HEPACAM2_uc010lff.2_Missense_Mutation_p.H263N|HEPACAM2_uc011khy.1_Missense_Mutation_p.H298N	p.H275N	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			4	846	-			275			Ig-like C2-type 2.|Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.823C>A	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387864	0.04932	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.23	2.68	0.31781	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.100923	0.64402	D	0.000004	T	0.02418	0.0074	N	0.01168	-0.975	0.24544	N	0.994053	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45145	-0.9281	10	0.02654	T	1	-9.1815	4.8692	0.13624	0.6007:0.0:0.0898:0.3094	.	298;263;275;263	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	N	275;263;263;298	ENSP00000377980:H275N;ENSP00000340532:H263N;ENSP00000389592:H263N;ENSP00000390204:H298N	ENSP00000340532:H263N	H	-	1	0	HEPACAM2	92676018	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.664000	0.61540	1.064000	0.40671	-0.294000	0.09567	CAT		0.433	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		18	412	1	0	2e-07	2.22e-07	18	412				
TRRAP	8295	broad.mit.edu	37	7	98608706	98608706	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:98608706G>A	ENST00000359863.4	+	70	11137	c.10928G>A	c.(10927-10929)aGt>aAt	p.S3643N	TRRAP_ENST00000446306.3_Missense_Mutation_p.S3632N|AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000355540.3_Missense_Mutation_p.S3614N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3643	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGTTCAGAGTAACATGGTG	0.527																																						uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(10927-10929)AGT>AAT		transformation/transcription domain-associated							65.0	62.0	63.0					7																	98608706		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98608706G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10928G>A	7.37:g.98608706G>A	ENSP00000352925:p.Ser3643Asn					TRRAP_uc011kis.1_Missense_Mutation_p.S3614N|TRRAP_uc003upr.2_Missense_Mutation_p.S3349N|TRRAP_uc003ups.2_5'Flank	p.S3643N	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		70	11137	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3643			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.10928G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.76|14.76	2.630776|2.630776	0.46944|0.46944	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.76709|.	-1.04;-1.04|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.094778|.	0.64402|.	D|.	0.000001|.	T|T	0.54775|0.54775	0.1879|0.1879	N|N	0.19112|0.19112	0.55|0.55	0.47862|0.47862	D|D	0.999536|0.999536	B;B;B|.	0.14438|.	0.006;0.005;0.01|.	B;B;B|.	0.15870|.	0.005;0.013;0.014|.	T|T	0.49072|0.49072	-0.8977|-0.8977	10|5	0.16420|.	T|.	0.52|.	.|.	19.4728|19.4728	0.94969|0.94969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3614;3371;3643|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	N|I	3643;3614;3631|3372	ENSP00000352925:S3643N;ENSP00000347733:S3614N|.	ENSP00000347733:S3614N|.	S|V	+|+	2|1	0|0	TRRAP|TRRAP	98446642|98446642	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	7.876000|7.876000	0.87215|0.87215	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	AGT|GTA		0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		24	50	0	0	0	0	24	50				
TAF6	6878	broad.mit.edu	37	7	99707583	99707583	+	Silent	SNP	C	C	T	rs145206628		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99707583C>T	ENST00000344095.4	-	12	1797	c.1272G>A	c.(1270-1272)caG>caA	p.Q424Q	TAF6_ENST00000437822.2_Silent_p.Q461Q|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000452041.1_Silent_p.Q424Q|TAF6_ENST00000418432.2_Silent_p.Q348Q|TAF6_ENST00000453269.2_Silent_p.Q424Q|TAF6_ENST00000472509.1_Silent_p.Q481Q	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	424					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q424H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGAGGCTCTGCACATGGT	0.572																																						uc003uti.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1270-1272)CAG>CAA		TBP-associated factor 6 isoform alpha							116.0	99.0	105.0					7																	99707583		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99707583C>T		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1272G>A	7.37:g.99707583C>T						AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Silent_p.Q346Q|TAF6_uc003uth.2_Silent_p.Q481Q|TAF6_uc003utk.2_Silent_p.Q424Q|TAF6_uc011kji.1_Silent_p.Q461Q|TAF6_uc003utj.2_Silent_p.Q414Q|TAF6_uc003utl.2_Silent_p.Q424Q|TAF6_uc003utm.2_Silent_p.Q424Q	p.Q424Q	NM_139315	NP_647476	P49848	TAF6_HUMAN			12	1353	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		424					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.1272G>A	CCDS5686.1																																																																																				0.572	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		19	166	0	0	0	0	19	166				
TAF6	6878	broad.mit.edu	37	7	99711299	99711299	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711299C>T	ENST00000344095.4	-	4	862	c.337G>A	c.(337-339)Gat>Aat	p.D113N	TAF6_ENST00000437822.2_Missense_Mutation_p.D150N|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Missense_Mutation_p.D113N|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_Missense_Mutation_p.D56N|TAF6_ENST00000453269.2_Missense_Mutation_p.D113N|TAF6_ENST00000472509.1_Missense_Mutation_p.D170N	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	113					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGCTCAGATCAACCTCCTTC	0.607																																						uc003uti.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(337-339)GAT>AAT		TBP-associated factor 6 isoform alpha							73.0	75.0	75.0					7																	99711299		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711299C>T		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.337G>A	7.37:g.99711299C>T	ENSP00000344537:p.Asp113Asn					TAF6_uc003utg.2_Missense_Mutation_p.D54N|TAF6_uc003uth.2_Missense_Mutation_p.D170N|TAF6_uc003utk.2_Missense_Mutation_p.D113N|TAF6_uc011kji.1_Missense_Mutation_p.D150N|TAF6_uc003utj.2_Missense_Mutation_p.D103N|TAF6_uc003utl.2_Missense_Mutation_p.D113N|TAF6_uc003utm.2_Missense_Mutation_p.D113N|TAF6_uc003utn.1_Intron	p.D113N	NM_139315	NP_647476	P49848	TAF6_HUMAN			4	418	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		113					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.337G>A	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610610	0.66558	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822;ENST00000493322;ENST00000440225;ENST00000452438;ENST00000523306;ENST00000449571;ENST00000520135;ENST00000451699	T;T;T;T;T;T;T;T;T;T;T;T	0.60171	0.33;0.27;0.33;0.33;0.28;0.35;0.21;0.55;0.55;0.55;0.62;0.42	5.58	5.58	0.84498	.	0.147334	0.64402	D	0.000016	T	0.57858	0.2082	L	0.46819	1.47	0.50171	D	0.99985	B;B;B;B;B;B	0.28512	0.133;0.115;0.07;0.01;0.196;0.214	B;B;B;B;B;B	0.35899	0.123;0.161;0.077;0.035;0.213;0.077	T	0.58098	-0.7696	10	0.56958	D	0.05	-10.1624	17.119	0.86697	0.0:1.0:0.0:0.0	.	150;113;103;113;113;56	B4DT11;P49848-2;A4D299;P49848;C9JTY6;B3KUR4	.;.;.;TAF6_HUMAN;.;.	N	113;170;113;113;56;150;113;113;113;103;113;103;113	ENSP00000389575:D113N;ENSP00000419760:D170N;ENSP00000416396:D113N;ENSP00000344537:D113N;ENSP00000399982:D150N;ENSP00000419555:D113N;ENSP00000410012:D113N;ENSP00000412346:D113N;ENSP00000428639:D103N;ENSP00000390073:D113N;ENSP00000428071:D103N;ENSP00000406315:D113N	ENSP00000344537:D113N	D	-	1	0	TAF6	99549235	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.421000	0.59848	2.622000	0.88805	0.558000	0.71614	GAT		0.607	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		24	177	0	0	0	0	24	177				
TAF6	6878	broad.mit.edu	37	7	99711569	99711569	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711569C>T	ENST00000344095.4	-	3	690	c.165G>A	c.(163-165)ttG>ttA	p.L55L	TAF6_ENST00000437822.2_Silent_p.L92L|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Silent_p.L55L|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_Silent_p.L55L|TAF6_ENST00000472509.1_Silent_p.L112L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	55					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCATGAACTTCAAGGCATCCT	0.557																																						uc003uti.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(163-165)TTG>TTA		TBP-associated factor 6 isoform alpha							106.0	94.0	98.0					7																	99711569		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711569C>T		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.165G>A	7.37:g.99711569C>T						TAF6_uc003utg.2_5'UTR|TAF6_uc003uth.2_Silent_p.L112L|TAF6_uc003utk.2_Silent_p.L55L|TAF6_uc011kji.1_Silent_p.L92L|TAF6_uc003utj.2_Silent_p.L45L|TAF6_uc003utl.2_Silent_p.L55L|TAF6_uc003utm.2_Silent_p.L55L|TAF6_uc003utn.1_RNA	p.L55L	NM_139315	NP_647476	P49848	TAF6_HUMAN			3	246	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		55					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.165G>A	CCDS5686.1																																																																																				0.557	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		19	117	0	0	0	0	19	117				
TAF6	6878	broad.mit.edu	37	7	99711749	99711749	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711749G>A	ENST00000344095.4	-	2	609	c.84C>T	c.(82-84)atC>atT	p.I28I	TAF6_ENST00000437822.2_Silent_p.I65I|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Silent_p.I28I|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_Silent_p.I28I|TAF6_ENST00000472509.1_Silent_p.I85I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	28					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGGCGATGCCCATGG	0.567																																						uc003uti.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(82-84)ATC>ATT		TBP-associated factor 6 isoform alpha							146.0	132.0	137.0					7																	99711749		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711749G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.84C>T	7.37:g.99711749G>A						TAF6_uc003utg.2_5'Flank|TAF6_uc003uth.2_Silent_p.I85I|TAF6_uc003utk.2_Silent_p.I28I|TAF6_uc011kji.1_Silent_p.I65I|TAF6_uc003utj.2_Silent_p.I28I|TAF6_uc003utl.2_Silent_p.I28I|TAF6_uc003utm.2_Silent_p.I28I|TAF6_uc003utn.1_RNA	p.I28I	NM_139315	NP_647476	P49848	TAF6_HUMAN			2	165	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		28					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.84C>T	CCDS5686.1																																																																																				0.567	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		31	173	0	0	0	0	31	173				
TAF6	6878	broad.mit.edu	37	7	99711776	99711776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711776C>T	ENST00000344095.4	-	2	582	c.57G>A	c.(55-57)atG>atA	p.M19I	TAF6_ENST00000437822.2_Missense_Mutation_p.M56I|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Missense_Mutation_p.M19I|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_Missense_Mutation_p.M19I|TAF6_ENST00000472509.1_Missense_Mutation_p.M76I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	19					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACCACCTTCATGGACTCCG	0.572																																						uc003uti.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(55-57)ATG>ATA		TBP-associated factor 6 isoform alpha							150.0	137.0	142.0					7																	99711776		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711776C>T		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.57G>A	7.37:g.99711776C>T	ENSP00000344537:p.Met19Ile					TAF6_uc003utg.2_5'Flank|TAF6_uc003uth.2_Missense_Mutation_p.M76I|TAF6_uc003utk.2_Missense_Mutation_p.M19I|TAF6_uc011kji.1_Missense_Mutation_p.M56I|TAF6_uc003utj.2_Missense_Mutation_p.M19I|TAF6_uc003utl.2_Missense_Mutation_p.M19I|TAF6_uc003utm.2_Missense_Mutation_p.M19I|TAF6_uc003utn.1_RNA	p.M19I	NM_139315	NP_647476	P49848	TAF6_HUMAN			2	138	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		19					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.57G>A	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	C	7.797	0.712918	0.15306	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000437822;ENST00000493322;ENST00000440225;ENST00000452438;ENST00000523306;ENST00000449571;ENST00000520135;ENST00000451699;ENST00000417349	T;T;T;T;T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.5	4.57	0.56435	Histone-fold (2);TATA box binding protein associated factor (TAF) (2);	0.036147	0.85682	D	0.000000	T	0.21921	0.0528	N	0.11818	0.18	0.80722	D	1	B;B;B;B;B	0.25850	0.136;0.111;0.136;0.027;0.01	B;B;B;B;B	0.20184	0.028;0.016;0.028;0.017;0.012	T	0.07046	-1.0793	10	0.07325	T	0.83	-32.4793	13.4899	0.61388	0.0:0.842:0.158:0.0	.	56;19;19;19;19	B4DT11;P49848-2;A4D299;P49848;C9JTY6	.;.;.;TAF6_HUMAN;.	I	19;76;19;19;56;19;19;19;19;19;19;19;19	ENSP00000389575:M19I;ENSP00000419760:M76I;ENSP00000416396:M19I;ENSP00000344537:M19I;ENSP00000399982:M56I;ENSP00000419555:M19I;ENSP00000410012:M19I;ENSP00000412346:M19I;ENSP00000428639:M19I;ENSP00000390073:M19I;ENSP00000428071:M19I;ENSP00000406315:M19I;ENSP00000390220:M19I	ENSP00000344537:M19I	M	-	3	0	TAF6	99549712	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.392000	0.66272	2.590000	0.87494	0.491000	0.48974	ATG		0.572	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		29	181	0	0	0	0	29	181				
RELN	5649	broad.mit.edu	37	7	103191542	103191542	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:103191542C>T	ENST00000428762.1	-	41	6433	c.6274G>A	c.(6274-6276)Gtg>Atg	p.V2092M	RELN_ENST00000343529.5_Missense_Mutation_p.V2092M|RELN_ENST00000424685.2_Missense_Mutation_p.V2092M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2092					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAAAGTGCACGACCTCCCTC	0.552																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6274-6276)GTG>ATG		reelin isoform a							59.0	44.0	49.0					7																	103191542		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191542C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6274G>A	7.37:g.103191542C>T	ENSP00000392423:p.Val2092Met					RELN_uc010liz.2_Missense_Mutation_p.V2092M	p.V2092M	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6434	-			2092					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6274G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667551	0.67814	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.27557	1.66;1.66;1.66	5.96	3.92	0.45320	Neuraminidase (1);	0.259602	0.38548	N	0.001653	T	0.18257	0.0438	L	0.47190	1.495	0.34249	D	0.678526	P;P	0.46457	0.875;0.878	B;B	0.34489	0.184;0.137	T	0.24657	-1.0154	10	0.45353	T	0.12	.	3.1724	0.06556	0.0:0.5132:0.272:0.2148	.	2092;2092	P78509-2;P78509	.;RELN_HUMAN	M	2092	ENSP00000392423:V2092M;ENSP00000345694:V2092M;ENSP00000388446:V2092M	ENSP00000345694:V2092M	V	-	1	0	RELN	102978778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.577000	0.53885	2.831000	0.97527	0.650000	0.86243	GTG		0.552	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		9	54	0	0	0	0	9	54				
LAMB4	22798	broad.mit.edu	37	7	107710183	107710183	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:107710183T>A	ENST00000388781.3	-	18	2355	c.2272A>T	c.(2272-2274)Atg>Ttg	p.M758L	LAMB4_ENST00000388780.3_Missense_Mutation_p.M758L|LAMB4_ENST00000205386.4_Missense_Mutation_p.M758L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	758	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGGCAGACATGCTGATGATC	0.478																																						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(2272-2274)ATG>TTG		laminin, beta 4 precursor							116.0	111.0	113.0					7																	107710183		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107710183T>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2272A>T	7.37:g.107710183T>A	ENSP00000373433:p.Met758Leu					LAMB4_uc003vey.2_Missense_Mutation_p.M758L	p.M758L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			18	2356	-			758			Laminin IV type B.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2272A>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	T	9.043	0.990140	0.18966	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.26660	1.72;1.72;1.75	5.38	-1.8	0.07907	Laminin IV (1);	0.524837	0.18529	N	0.138542	T	0.07188	0.0182	N	0.04297	-0.235	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31503	-0.9941	10	0.16420	T	0.52	.	0.4098	0.00439	0.2117:0.1867:0.2031:0.3985	.	758	A4D0S4	LAMB4_HUMAN	L	758	ENSP00000205386:M758L;ENSP00000373433:M758L;ENSP00000373432:M758L	ENSP00000205386:M758L	M	-	1	0	LAMB4	107497419	0.035000	0.19736	0.709000	0.30452	0.503000	0.33858	-1.033000	0.03571	-0.580000	0.05944	-0.256000	0.11100	ATG		0.478	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		36	148	0	0	0	0	36	148				
ACTR3C	653857	broad.mit.edu	37	7	149981865	149981865	+	Missense_Mutation	SNP	C	C	T	rs369988101		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:149981865C>T	ENST00000539352.1	-	6	792	c.541G>A	c.(541-543)Gat>Aat	p.D181N	ACTR3C_ENST00000252071.4_Missense_Mutation_p.D181N	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	181						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)										CGCCGCACATCGATGGGGCAG	0.398																																						uc003wgu.1		NA																	0					0						c.(541-543)GAT>AAT		actin-related protein 3-beta isoform 2		C	ASN/ASP,ASN/ASP	1,1383		0,1,691	81.0	71.0	74.0		541,541	2.2	1.0	7		74	0,3182		0,0,1591	no	missense,missense	ACTR3C	NM_001164458.1,NM_001164459.1	23,23	0,1,2282	TT,TC,CC		0.0,0.0723,0.0219	probably-damaging,probably-damaging	181/211,181/211	149981865	1,4565	692	1591	2283	SO:0001583	missense	653857				regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding	g.chr7:149981865C>T		CCDS47744.1	7q36.1	2009-09-23			ENSG00000106526	ENSG00000106526			37282	protein-coding gene	gene with protein product						11162478, 14651955	Standard	NM_001164458		Approved	ARP11	uc022aps.1	Q9C0K3	OTTHUMG00000158323	ENST00000539352.1:c.541G>A	7.37:g.149981865C>T	ENSP00000440990:p.Asp181Asn						p.D181N	NM_001040135	NP_001035225	Q9C0K3	ARP3C_HUMAN			6	731	-			181					Q5CZI4	Missense_Mutation	SNP	ENST00000539352.1	37	c.541G>A	CCDS47744.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817883	0.71028	7.23E-4	0.0	ENSG00000106526	ENST00000478393;ENST00000252071;ENST00000539352	T;T;T	0.11495	2.77;2.77;2.77	2.16	2.16	0.27623	.	0.000000	0.64402	D	0.000001	T	0.45094	0.1325	H	0.97940	4.11	0.33845	D	0.631934	D	0.89917	1.0	D	0.97110	1.0	T	0.69439	-0.5145	9	.	.	.	.	10.4552	0.44546	0.0:1.0:0.0:0.0	.	181	Q9C0K3	ARP3C_HUMAN	N	179;181;181	ENSP00000417426:D179N;ENSP00000252071:D181N;ENSP00000440990:D181N	.	D	-	1	0	ACTR3C	149612798	1.000000	0.71417	0.991000	0.47740	0.689000	0.40095	7.033000	0.76504	1.511000	0.48818	0.398000	0.26397	GAT		0.398	ACTR3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350676.2			6	45	0	0	0	0	6	45				
GIMAP6	474344	broad.mit.edu	37	7	150325563	150325563	+	Silent	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:150325563C>A	ENST00000328902.5	-	3	339	c.123G>T	c.(121-123)ctG>ctT	p.L41L	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	41	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAATGAGCCTCAGTCTCCTTG	0.517																																						uc003whn.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(121-123)CTG>CTT		GTPase, IMAP family member 6							240.0	246.0	244.0					7																	150325563		2203	4300	6503	SO:0001819	synonymous_variant	474344						GTP binding	g.chr7:150325563C>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.123G>T	7.37:g.150325563C>A						GIMAP6_uc003whm.2_Intron	p.L41L	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	547	-			41					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	ENST00000328902.5	37	c.123G>T	CCDS34778.1																																																																																				0.517	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		64	680	1	0	5.97e-29	6.9e-29	64	680				
COL14A1	7373	broad.mit.edu	37	8	121228727	121228727	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:121228727G>A	ENST00000297848.3	+	14	2005	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E579K|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.E484K	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.E579K(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAAATCAATGAGGTAAGTTC	0.383																																						uc003yox.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1735-1737)GAG>AAG		collagen, type XIV, alpha 1 precursor							101.0	97.0	98.0					8																	121228727		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121228727G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1735G>A	8.37:g.121228727G>A	ENSP00000297848:p.Glu579Lys					COL14A1_uc003yoy.2_Missense_Mutation_p.E257K|COL14A1_uc010mde.1_Missense_Mutation_p.E257K	p.E579K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		14	2000	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		579			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1735G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568891	0.65765	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.29	5.29	0.74685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.050901	0.85682	D	0.000000	T	0.69378	0.3104	L	0.56396	1.775	0.47276	D	0.999371	D;D	0.57571	0.98;0.978	P;P	0.57911	0.758;0.829	T	0.65384	-0.6181	10	0.33141	T	0.24	.	19.1338	0.93418	0.0:0.0:1.0:0.0	.	579;579	Q05707-2;Q05707	.;COEA1_HUMAN	K	579;579;484;392	ENSP00000311809:E579K;ENSP00000297848:E579K;ENSP00000247781:E484K;ENSP00000409461:E392K	ENSP00000247781:E484K	E	+	1	0	COL14A1	121297908	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	6.584000	0.74057	2.752000	0.94435	0.655000	0.94253	GAG		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		8	211	0	0	0	0	8	211				
COL14A1	7373	broad.mit.edu	37	8	121243789	121243789	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:121243789G>A	ENST00000297848.3	+	19	2551	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.D761N|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.D666N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCTGACAGCGATGTGCAGCA	0.453																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2281-2283)GAT>AAT		collagen, type XIV, alpha 1 precursor							123.0	112.0	115.0					8																	121243789		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121243789G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2281G>A	8.37:g.121243789G>A	ENSP00000297848:p.Asp761Asn					COL14A1_uc003yoy.2_Missense_Mutation_p.D439N	p.D761N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		19	2546	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		761			Fibronectin type-III 6.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2281G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	4.869	0.161468	0.09287	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.55	2.01	0.26516	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.644313	0.16824	N	0.198051	T	0.21761	0.0524	N	0.03154	-0.405	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22347	-1.0219	10	0.02654	T	1	.	7.9629	0.30081	0.7496:0.0:0.2504:0.0	.	761;761	Q05707-2;Q05707	.;COEA1_HUMAN	N	761;761;666;574	ENSP00000311809:D761N;ENSP00000297848:D761N;ENSP00000247781:D666N;ENSP00000409461:D574N	ENSP00000247781:D666N	D	+	1	0	COL14A1	121312970	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.376000	0.52417	0.427000	0.26145	-0.367000	0.07326	GAT		0.453	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		10	121	0	0	0	0	10	121				
MAPK15	225689	broad.mit.edu	37	8	144803252	144803252	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:144803252G>C	ENST00000338033.4	+	10	1119	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	334					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCTGTGCCTGAGTACCGCAG	0.652																																						uc003yzj.2		NA																	0				lung(2)	2						c.(1000-1002)GAG>CAG		mitogen-activated protein kinase 15							18.0	25.0	23.0					8																	144803252		2060	4198	6258	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144803252G>C	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1000G>C	8.37:g.144803252G>C	ENSP00000337691:p.Glu334Gln						p.E334Q	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		10	1041	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		334					Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.1000G>C	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	13.39	2.222264	0.39300	.	.	ENSG00000181085	ENST00000338033	T	0.74421	-0.84	3.8	3.8	0.43715	.	0.063203	0.64402	D	0.000007	T	0.70360	0.3215	L	0.36672	1.1	0.80722	D	1	P	0.47545	0.897	P	0.47941	0.562	T	0.71583	-0.4549	10	0.39692	T	0.17	-14.8469	14.3781	0.66892	0.0:0.0:1.0:0.0	.	334	Q8TD08	MK15_HUMAN	Q	334	ENSP00000337691:E334Q	ENSP00000337691:E334Q	E	+	1	0	MAPK15	144875240	1.000000	0.71417	0.487000	0.27428	0.048000	0.14542	3.967000	0.56802	1.941000	0.56285	0.467000	0.42956	GAG		0.652	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		4	32	0	0	0	0	4	32				
PLEC	5339	broad.mit.edu	37	8	144991144	144991144	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:144991144C>T	ENST00000322810.4	-	32	13425	c.13256G>A	c.(13255-13257)gGc>gAc	p.G4419D	PLEC_ENST00000356346.3_Missense_Mutation_p.G4268D|PLEC_ENST00000436759.2_Missense_Mutation_p.G4309D|PLEC_ENST00000354589.3_Missense_Mutation_p.G4282D|PLEC_ENST00000398774.2_Missense_Mutation_p.G4250D|PLEC_ENST00000345136.3_Missense_Mutation_p.G4282D|PLEC_ENST00000357649.2_Missense_Mutation_p.G4286D|PLEC_ENST00000354958.2_Missense_Mutation_p.G4260D|PLEC_ENST00000527096.1_Missense_Mutation_p.G4305D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4419	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCCAGGATGCCAGCCACGGG	0.672																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(13255-13257)GGC>GAC		plectin isoform 1							29.0	35.0	33.0					8																	144991144		2042	4182	6224	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144991144C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13256G>A	8.37:g.144991144C>T	ENSP00000323856:p.Gly4419Asp					PLEC_uc003zab.1_Missense_Mutation_p.G4282D|PLEC_uc003zac.1_Missense_Mutation_p.G4286D|PLEC_uc003zad.2_Missense_Mutation_p.G4282D|PLEC_uc003zae.1_Missense_Mutation_p.G4250D|PLEC_uc003zag.1_Missense_Mutation_p.G4260D|PLEC_uc003zah.2_Missense_Mutation_p.G4268D|PLEC_uc003zaj.2_Missense_Mutation_p.G4309D	p.G4419D	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	13426	-			4419			Globular 2.|Plectin 29.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13256G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	8.242	0.807164	0.16467	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.24	5.24	0.73138	.	0.000000	0.64402	U	0.000007	D	0.84433	0.5471	M	0.74647	2.275	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D	0.85820	0.1385	10	0.87932	D	0	.	18.6231	0.91328	0.0:1.0:0.0:0.0	.	4309;4268;4260;4419;4250;4282;4286;4282	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	D	4282;4286;4282;4250;4419;4260;4268;4309;4305	ENSP00000344848:G4282D;ENSP00000350277:G4286D;ENSP00000346602:G4282D;ENSP00000381756:G4250D;ENSP00000323856:G4419D;ENSP00000347044:G4260D;ENSP00000348702:G4268D;ENSP00000388180:G4309D;ENSP00000434583:G4305D	ENSP00000323856:G4419D	G	-	2	0	PLEC	145063132	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	5.888000	0.69758	2.726000	0.93360	0.549000	0.68633	GGC		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	110	0	0	0	0	4	110				
FREM1	158326	broad.mit.edu	37	9	14824903	14824903	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:14824903C>T	ENST00000380880.3	-	11	2752	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	FREM1_ENST00000380881.4_Missense_Mutation_p.E658K|FREM1_ENST00000422223.2_Missense_Mutation_p.E657K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	657					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGGCCACCTCAGTTTCCTTG	0.408																																						uc003zlm.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1969-1971)GAG>AAG		FRAS1 related extracellular matrix 1 precursor							88.0	82.0	84.0					9																	14824903		1830	4081	5911	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14824903C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1969G>A	9.37:g.14824903C>T	ENSP00000370262:p.Glu657Lys					FREM1_uc010mic.2_RNA	p.E657K	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	11	2559	-			657			CSPG 4.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1969G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544193	0.96488	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.28255	1.62;1.62;1.62	5.92	5.92	0.95590	.	0.090873	0.85682	D	0.000000	T	0.56470	0.1987	M	0.73962	2.25	0.80722	D	1	D	0.63880	0.993	P	0.62382	0.901	T	0.53627	-0.8412	10	0.51188	T	0.08	-22.3567	20.3206	0.98668	0.0:1.0:0.0:0.0	.	657	Q5H8C1	FREM1_HUMAN	K	658;657;657	ENSP00000370263:E658K;ENSP00000412940:E657K;ENSP00000370262:E657K	ENSP00000370257:E660K	E	-	1	0	FREM1	14814903	1.000000	0.71417	0.974000	0.42286	0.996000	0.88848	4.636000	0.61339	2.809000	0.96659	0.655000	0.94253	GAG		0.408	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		10	65	0	0	0	0	10	65				
TMEM2	23670	broad.mit.edu	37	9	74365204	74365204	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:74365204G>A	ENST00000377044.4	-	2	625	c.86C>T	c.(85-87)cCa>cTa	p.P29L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P29L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	29					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCTTCCCTGGAACATAGCC	0.517																																						uc011lsa.1		NA																	0				ovary(2)	2						c.(85-87)CCA>CTA		transmembrane protein 2 isoform a							91.0	89.0	90.0					9																	74365204		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74365204G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.86C>T	9.37:g.74365204G>A	ENSP00000366243:p.Pro29Leu					TMEM2_uc010mos.2_Missense_Mutation_p.P29L|TMEM2_uc011lsb.1_RNA	p.P29L	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	2	626	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	29					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.86C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893606	0.91889	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.83075	-1.51;-1.68	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87525	0.6199	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.88504	0.3084	10	0.87932	D	0	.	19.2125	0.93763	0.0:0.0:1.0:0.0	.	29;29	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	29	ENSP00000366243:P29L;ENSP00000366266:P29L	ENSP00000366243:P29L	P	-	2	0	TMEM2	73555024	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.889000	0.69766	2.840000	0.97914	0.655000	0.94253	CCA		0.517	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		15	88	0	0	0	0	15	88				
GDA	9615	broad.mit.edu	37	9	74828816	74828816	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:74828816C>T	ENST00000358399.3	+	5	580	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	GDA_ENST00000376986.1_Missense_Mutation_p.R121W|GDA_ENST00000376989.3_Missense_Mutation_p.R138W|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.R163W|GDA_ENST00000545168.1_Missense_Mutation_p.R89W	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	163					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTTGGACAGCGGGCATTTGT	0.348																																						uc004aiq.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(487-489)CGG>TGG		guanine deaminase							114.0	113.0	114.0					9																	74828816		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74828816C>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.487C>T	9.37:g.74828816C>T	ENSP00000351170:p.Arg163Trp					GDA_uc011lse.1_Missense_Mutation_p.R89W|GDA_uc011lsf.1_Missense_Mutation_p.R89W|GDA_uc004air.2_Missense_Mutation_p.R163W|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.R121W|GDA_uc004ait.1_Missense_Mutation_p.R89W	p.R163W	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	5	670	+		Myeloproliferative disorder(762;0.0122)	163					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.487C>T	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637359	0.67130	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	5.64	3.72	0.42706	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	H	0.97023	3.925	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97524	1.0075	10	0.87932	D	0	-9.3723	13.4568	0.61204	0.5727:0.4273:0.0:0.0	.	121;163;163	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	W	89;163;138;121;163	ENSP00000437972:R89W;ENSP00000238018:R163W;ENSP00000366188:R138W;ENSP00000366185:R121W;ENSP00000351170:R163W	ENSP00000238018:R163W	R	+	1	2	GDA	74018636	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.318000	0.19504	0.671000	0.31185	0.591000	0.81541	CGG		0.348	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			14	55	0	0	0	0	14	55				
RPS6KA3	6197	broad.mit.edu	37	X	20190890	20190890	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:20190890C>T	ENST00000379565.3	-	15	1534	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.A414T|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.A413T|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.A415T|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	443	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	ATGTTTGTAGCTTTATGTATA	0.333																																						uc004czu.2		NA																	0				central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						c.(1327-1329)GCT>ACT		ribosomal protein S6 kinase, 90kDa, polypeptide							62.0	51.0	54.0					X																	20190890		2200	4293	6493	SO:0001583	missense	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20190890C>T	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1327G>A	X.37:g.20190890C>T	ENSP00000368884:p.Ala443Thr					RPS6KA3_uc011mjk.1_Missense_Mutation_p.A413T|RPS6KA3_uc004czv.2_Missense_Mutation_p.A430T|RPS6KA3_uc011mjl.1_Missense_Mutation_p.A414T|RPS6KA3_uc011mjm.1_Missense_Mutation_p.A415T	p.A443T	NM_004586	NP_004577	P51812	KS6A3_HUMAN			15	1327	-			443			Protein kinase 2.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	c.1327G>A	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466674	0.43839	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.238447	0.40728	N	0.001036	T	0.41050	0.1142	N	0.03304	-0.355	0.47547	D	0.999456	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.24621	-1.0155	10	0.26408	T	0.33	.	17.9258	0.88982	0.0:1.0:0.0:0.0	.	414;413;415;443	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	T	443;415;413;414	ENSP00000368884:A443T;ENSP00000440220:A415T;ENSP00000368865:A413T;ENSP00000444837:A414T	ENSP00000368865:A413T	A	-	1	0	RPS6KA3	20100811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.754000	0.55189	2.253000	0.74438	0.600000	0.82982	GCT		0.333	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		11	33	0	0	0	0	11	33				
CXorf21	80231	broad.mit.edu	37	X	30578442	30578442	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:30578442C>G	ENST00000378962.3	-	3	353	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	11										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TTCCAGTACTCAAGTCCACTG	0.418																																						uc004dcg.1		NA																	0				ovary(1)	1						c.(31-33)GAG>CAG		hypothetical protein LOC80231							44.0	37.0	40.0					X																	30578442		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30578442C>G	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.31G>C	X.37:g.30578442C>G	ENSP00000368245:p.Glu11Gln						p.E11Q	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	307	-			11						Missense_Mutation	SNP	ENST00000378962.3	37	c.31G>C	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	C	3.276	-0.148061	0.06627	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.24	4.37	0.52481	.	0.468588	0.20198	N	0.097150	T	0.14056	0.0340	N	0.03608	-0.345	0.21220	N	0.99975	B	0.02656	0.0	B	0.01281	0.0	T	0.23583	-1.0184	9	0.15066	T	0.55	-0.6925	6.1766	0.20447	0.0:0.5591:0.2693:0.1716	.	11	Q9HAI6	CX021_HUMAN	Q	11	.	ENSP00000368245:E11Q	E	-	1	0	CXorf21	30488363	0.976000	0.34144	1.000000	0.80357	0.778000	0.44026	0.549000	0.23329	1.171000	0.42768	0.538000	0.68166	GAG		0.418	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		13	95	0	0	0	0	13	95				
RPGR	6103	broad.mit.edu	37	X	38156556	38156556	+	Silent	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:38156556G>T	ENST00000339363.3	-	11	1562	c.1395C>A	c.(1393-1395)ctC>ctA	p.L465L	RPGR_ENST00000338898.3_Silent_p.L465L|RPGR_ENST00000342811.3_Silent_p.L465L|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Silent_p.L403L|RPGR_ENST00000318842.7_Silent_p.L465L|RPGR_ENST00000378505.2_Silent_p.L465L			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	465					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGGCTGCATGAGGTCCTGTT	0.418																																						uc004ded.1		NA																	0				ovary(1)	1						c.(1393-1395)CTC>CTA		retinitis pigmentosa GTPase regulator isoform C							117.0	108.0	111.0					X																	38156556		2202	4300	6502	SO:0001819	synonymous_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38156556G>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1395C>A	X.37:g.38156556G>T						RPGR_uc004deb.2_Silent_p.L465L|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Silent_p.L150L	p.L465L	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			11	1563	-			465					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37	c.1395C>A																																																																																					0.418	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		9	103	1	0	3.86e-05	4.24e-05	9	103				
TEX13A	56157	broad.mit.edu	37	X	104464803	104464803	+	Silent	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:104464803C>A	ENST00000413579.1	-	2	390	c.279G>T	c.(277-279)ctG>ctT	p.L93L	TEX13A_ENST00000372575.1_Silent_p.L93L|TEX13A_ENST00000372578.3_Silent_p.L93L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	93							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CGAAGCCGTGCAGCCACCGCA	0.632																																						uc004ema.2		NA																	0				ovary(2)	2						c.(277-279)CTG>CTT		testis expressed sequence 13A							32.0	32.0	32.0					X																	104464803		2203	4292	6495	SO:0001819	synonymous_variant	56157					intracellular	zinc ion binding	g.chrX:104464803C>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.279G>T	X.37:g.104464803C>A						IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Silent_p.L93L	p.L93L	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	391	-			93					B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37	c.279G>T																																																																																					0.632	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		9	41	1	0	0.000274275	0.000296464	9	41				
ATP11C	286410	broad.mit.edu	37	X	138880468	138880468	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:138880468T>C	ENST00000327569.3	-	10	928	c.830A>G	c.(829-831)tAc>tGc	p.Y277C	ATP11C_ENST00000370543.1_Missense_Mutation_p.Y277C|ATP11C_ENST00000460773.1_5'Flank|ATP11C_ENST00000359686.2_Missense_Mutation_p.Y277C|ATP11C_ENST00000370557.1_Missense_Mutation_p.Y274C|ATP11C_ENST00000361648.2_Missense_Mutation_p.Y277C	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	277					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTTCCCTTGGTAGTTCAAAGC	0.338																																						uc004faz.2		NA																	0				ovary(5)|large_intestine(3)	8						c.(829-831)TAC>TGC		ATPase, class VI, type 11C isoform a							117.0	101.0	107.0					X																	138880468		2202	4300	6502	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138880468T>C	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.830A>G	X.37:g.138880468T>C	ENSP00000332756:p.Tyr277Cys					ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Missense_Mutation_p.Y277C	p.Y277C	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			10	929	-	Acute lymphoblastic leukemia(192;0.000127)		277			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.830A>G	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194743	0.78902	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.68	5.68	0.88126	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	M	0.65677	2.01	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94251	0.7493	10	0.51188	T	0.08	.	13.9985	0.64419	0.0:0.0:0.0:1.0	.	277;277	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	C	274;277;277;277;277	ENSP00000359588:Y274C;ENSP00000355165:Y277C;ENSP00000332756:Y277C;ENSP00000359574:Y277C;ENSP00000352715:Y277C	ENSP00000332756:Y277C	Y	-	2	0	ATP11C	138708134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.903000	0.55091	0.425000	0.28330	TAC		0.338	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		27	116	0	0	0	0	27	116				
MYOF	26509	broad.mit.edu	37	10	95134520	95134521	+	Splice_Site	INS	-	-	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:95134520_95134521insT	ENST00000359263.4	-	23	2299_2300	c.2300_2301insA	c.(2299-2301)gag>gaAg	p.E767fs	MYOF_ENST00000371502.4_Splice_Site_p.E767fs|MYOF_ENST00000358334.5_Splice_Site_p.E754fs|MYOF_ENST00000371501.4_Splice_Site_p.E767fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	767					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAGTCCTACCTCTTCAGTCAG	0.455																																						uc001kin.2		NA																	0				ovary(3)|breast(1)	4						c.(2299-2301)GAGfs		myoferlin isoform a																																				SO:0001630	splice_region_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95134520_95134521insT	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2301+1->A	10.37:g.95134521_95134521dupT						MYOF_uc001kio.2_Frame_Shift_Ins_p.E754fs|MYOF_uc009xue.2_RNA	p.E767fs	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			23	2423_2424	-			767			Cytoplasmic (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Ins	INS	ENST00000359263.4	37	c.2300_2301insA	CCDS41551.1																																																																																				0.455	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	Frame_Shift_Ins	14	136	NA	NA	NA	NA	14	136	---	---	---	---
SP1	6667	broad.mit.edu	37	12	53776257	53776258	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:53776257_53776258delAT	ENST00000327443.4	+	3	624_625	c.526_527delAT	c.(526-528)atcfs	p.I176fs	SP1_ENST00000426431.2_Frame_Shift_Del_p.I169fs	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	176	Transactivation domain A (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTATCAAGTAATCCCACAGTTC	0.515																																						uc001scw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(526-528)ATCfs		Sp1 transcription factor isoform a																																				SO:0001589	frameshift_variant	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776257_53776258delAT	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.526_527delAT	12.37:g.53776257_53776258delAT	ENSP00000329357:p.Ile176fs					SP1_uc010sog.1_Frame_Shift_Del_p.I169fs	p.I176fs	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	623_624	+			176			Transactivation domain A (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Frame_Shift_Del	DEL	ENST00000327443.4	37	c.526_527delAT	CCDS8857.1																																																																																				0.515	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			20	228	NA	NA	NA	NA	20	228	---	---	---	---
SRPK2	6733	broad.mit.edu	37	7	104782508	104782509	+	Frame_Shift_Ins	INS	-	-	A	rs56112661	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:104782508_104782509insA	ENST00000393651.3	-	11	1576_1577	c.1489_1490insT	c.(1489-1491)tccfs	p.S497fs	SRPK2_ENST00000357311.3_Frame_Shift_Ins_p.S486fs|SRPK2_ENST00000489828.1_Frame_Shift_Ins_p.S486fs	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCTGTCATGGGATGGACTGCTC	0.52																																						uc003vct.2		NA																	0				central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1456-1458)TCCfs		serine/arginine-rich protein-specific kinase 2																																				SO:0001589	frameshift_variant	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104782508_104782509insA	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1490dupT	7.37:g.104782509_104782509dupA	ENSP00000377262:p.Ser497fs					SRPK2_uc003vcu.2_Frame_Shift_Ins_p.S486fs|SRPK2_uc003vcv.2_Frame_Shift_Ins_p.S497fs|SRPK2_uc003vcw.1_Frame_Shift_Ins_p.S486fs	p.S486fs	NM_182691	NP_872633	P78362	SRPK2_HUMAN			10	1643_1644	-			486			Protein kinase.			Frame_Shift_Ins	INS	ENST00000393651.3	37	c.1456_1457insT	CCDS34724.1																																																																																				0.520	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		29	131	NA	NA	NA	NA	29	131	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418																																						uc004eod.3		NA																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(3190-3192)AAAfs		guanylate cyclase 2F precursor							171.0	156.0	161.0					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs					GUCY2F_uc011msq.1_RNA	p.K1064fs	NM_001522	NP_001513	P51841	GUC2F_HUMAN			18	3468	-			1064			Cytoplasmic (Potential).		Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		7	539	NA	NA	NA	NA	7	539	---	---	---	---
