#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
SMPD1	6609	broad.mit.edu	37	11	6411931	6411954	+	In_Frame_Del	DEL	CTGGTGCTGGCGCTGGCGCTGGCG	CTGGTGCTGGCGCTGGCGCTGGCG	-	rs550365194|rs550067660|rs1050228|rs61729852|rs200577287|rs141685473|rs71467507|rs71056748|rs78250081|rs571806745|rs558809956|rs3838786|rs377374691|rs201367689	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	CTGGTGCTGGCGCTGGCGCTGGCG	CTGGTGCTGGCGCTGGCGCTGGCG	-	-	CTGGTGCTGGCGCTGGCGCTGGCG	CTGGTGCTGGCGCTGGCGCTGGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:6411931_6411954delCTGGTGCTGGCGCTGGCGCTGGCG	ENST00000342245.4	+	1	271_294	c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	c.(103-126)ctggtgctggcgctggcgctggcgdel	p.LVLALALA35del	SMPD1_ENST00000299397.3_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000527275.1_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000356761.2_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000533196.1_3'UTR	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	35				Missing (in Ref. 4; CAA42584). {ECO:0000305}.	cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.L39V(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	TTGGATGGGCctggtgctggcgctggcgctggcgctggcgctgg	0.701														5	0.000998403	0.0	0.0	5008	,	,		11591	0.0		0.002	False		,,,				2504	0.0031					ENST00000342245.4		NA																	2	Substitution - Missense(2)	p.L39V(2)	pancreas(2)	breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(103-126)ctggtgctggcgctggcgctggcgdel		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)																																			SO:0001651	inframe_deletion	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6411931_6411954delCTGGTGCTGGCGCTGGCGCTGGCG	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	11.37:g.6411931_6411954delCTGGTGCTGGCGCTGGCGCTGGCG	ENSP00000340409:p.Leu35_Ala42del	True	False		Somatic	1				SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000527275.1_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000356761.2_In_Frame_Del_p.LVLALALA35del|SMPD1_ENST00000299397.3_In_Frame_Del_p.LVLALALA35del	p.LVLALALA35del	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	WXS	Illumina HiSeq	Phase_I	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	271_294	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	35	Missing (in Ref. 4; CAA42584).				A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	In_Frame_Del	DEL	ENST00000342245.4	37	c.103_126delCTGGTGCTGGCGCTGGCGCTGGCG	CCDS44531.1																																																																																				0.701	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	0	NM_000543		11:6411931
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
MAP3K9	4293	broad.mit.edu	37	14	71199938	71199939	+	Frame_Shift_Ins	INS	-	-	TTATATGTTTTTAAAGATTCTCTCACCACTA			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:71199938_71199939insTTATATGTTTTTAAAGATTCTCTCACCACTA	ENST00000554752.2	-	11	2146_2147	c.2147_2148insTAGTGGTGAGAGAATCTTTAAAAACATATAA	c.(2146-2148)ggafs	p.-716fs	MAP3K9_ENST00000553414.1_Frame_Shift_Ins_p.-449fs|MAP3K9_ENST00000381250.4_Frame_Shift_Ins_p.-693fs|MAP3K9_ENST00000554146.1_Frame_Shift_Ins_p.-444fs|MAP3K9_ENST00000555993.2_Frame_Shift_Ins_p.-730fs	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCTCATGGATTCCATCACTGGA	0.639																																					GBM(114;411 1587 13539 28235 50070)	ENST00000553414.1		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1345-1347)ggafs		mitogen-activated protein kinase kinase kinase 9																																				SO:0001589	frameshift_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71199938_71199939insTTATATGTTTTTAAAGATTCTCTCACCACTA	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2147_2148insTAGTGGTGAGAGAATCTTTAAAAACATATAA	14.37:g.71199938_71199939insTTATATGTTTTTAAAGATTCTCTCACCACTA	ENSP00000451612:p.Gly716fs	False	False		Somatic	0				MAP3K9_ENST00000555993.2_Frame_Shift_Ins_p.-730fs|MAP3K9_ENST00000381250.4_Frame_Shift_Ins_p.-693fs|MAP3K9_ENST00000554146.1_Frame_Shift_Ins_p.-444fs|MAP3K9_ENST00000554752.2_Frame_Shift_Ins_p.-716fs	p.-449fs			WXS	Illumina HiSeq	Phase_I	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	10	1661_1662	-			NA					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Frame_Shift_Ins	INS	ENST00000554752.2	37	c.1346_1347insTAGTGGTGAGAGAATCTTTAAAAACATATAA																																																																																					0.639	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	0			14:71199938
PRRC2C	23215	broad.mit.edu	37	1	171510805	171510806	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:171510805_171510806insA	ENST00000338920.4	+	16	4431_4432	c.4194_4195insA	c.(4195-4197)cctfs	p.P1399fs	PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.P1401fs|PRRC2C_ENST00000367742.3_Frame_Shift_Ins_p.P1401fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.P1399fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1399	Arg-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGCAGTTTATTCCTATAGCAGC	0.485																																						ENST00000367742.3		NA																	0					NA						c.(4201-4203)cctfs		proline-rich coiled-coil 2C																																				SO:0001589	frameshift_variant	23215						protein C-terminus binding	g.chr1:171510805_171510806insA	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	Exception_encountered	1.37:g.171510805_171510806insA	ENSP00000343629:p.Pro1399fs	False	False		Somatic	0				PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.P1399fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.P1401fs|PRRC2C_ENST00000338920.4_Frame_Shift_Ins_p.P1399fs	p.P1401fs			WXS	Illumina HiSeq	Phase_I	Q9Y520	PRC2C_HUMAN			16	4442_4443	+			1399			Arg-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Ins	INS	ENST00000338920.4	37	c.4200_4201insA	CCDS1296.2																																																																																				0.485	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	0	NM_015172		1:171510805
PSG7	5676	broad.mit.edu	37	19	43439844	43439845	+	RNA	INS	-	-	G	rs370231373		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:43439844_43439845insG	ENST00000406070.2	-	0	237_238				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ACATCCTTCCCCTCGGAAACTT	0.485																																						ENST00000406070.2		NA																	0					NA								pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439844_43439845insG			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439844_43439845insG		True	False		Somatic	0				PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	WXS	Illumina HiSeq	Phase_I	Q13046	PSG7_HUMAN			0	237_238	-		Prostate(69;0.00682)	NA					Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.485	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	0	NM_001206650		19:43439844
TAF1	6872	broad.mit.edu	37	X	70642968	70642970	+	Splice_Site	DEL	AAG	AAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:70642968_70642970delAAG	ENST00000373790.4	+	30	4502_4504	c.4451_4453delAAG	c.(4450-4455)aaagaa>aaa	p.E1485del	TAF1_ENST00000423759.1_Splice_Site_p.E1506del|TAF1_ENST00000276072.3_Splice_Site_p.E1506del|TAF1_ENST00000449580.1_Splice_Site_p.E1485del	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1485	Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAATTTCAGAAAGAAGACAAATT	0.443																																						ENST00000373790.4		NA																	0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(4450-4455)aaagaa>aaa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa																																				SO:0001630	splice_region_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70642968_70642970delAAG		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4450-1AAG>-	X.37:g.70642971_70642973delAAG		True	False		Somatic	2				TAF1_ENST00000449580.1_Splice_Site_p.E1485del|TAF1_ENST00000276072.3_Splice_Site_p.E1506del|TAF1_ENST00000423759.1_Splice_Site_p.E1506del	p.E1485del	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	WXS	Illumina HiSeq	Phase_I	P21675	TAF1_HUMAN			30	4502_4504	+	Renal(35;0.156)	all_lung(315;0.000321)	1485			Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Splice_Site	DEL	ENST00000373790.4	37	c.4451_4453delAAG	CCDS35325.1																																																																																				0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	0	NM_004606	In_Frame_Del	X:70642968
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
TGFBR2	7048	broad.mit.edu	37	3	30713755	30713758	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	CCTC	CCTC	-	-	CCTC	CCTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:30713755_30713758delCCTC	ENST00000295754.5	+	4	1462_1465	c.1080_1083delCCTC	c.(1078-1083)cacctcfs	p.HL360fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.HL385fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATTGCTCACCTCCACAGTGATC	0.608																																						ENST00000295754.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1078-1083)cacctcfs		transforming growth factor, beta receptor II (70/80kDa)																																				SO:0001589	frameshift_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713755_30713758delCCTC		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1080_1083delCCTC	3.37:g.30713755_30713758delCCTC	ENSP00000295754:p.His360fs	False	False		Somatic	1				TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.HL385fs	p.HL360fs	NM_003242.5	NP_003233.4	WXS	Illumina HiSeq	Phase_I	P37173	TGFR2_HUMAN			4	1462_1465	+			360			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	ENST00000295754.5	37	c.1080_1083delCCTC	CCDS2648.1																																																																																				0.608	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	0			3:30713755
HTR3E	285242	broad.mit.edu	37	3	183823996	183823997	+	Frame_Shift_Ins	INS	-	-	GTGATGAAGATGGTCT			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:183823996_183823997insGTGATGAAGATGGTCT	ENST00000415389.2	+	8	1472_1473	c.1006_1007insGTGATGAAGATGGTCT	c.(1006-1008)gccfs	p.A336fs	HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.A351fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.A321fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.A362fs|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.A336fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	336					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GCTGCACGTGGCCACCACCCAG	0.653																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1006-1008)gccfs		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic																																				SO:0001589	frameshift_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823996_183823997insGTGATGAAGATGGTCT	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	Exception_encountered	3.37:g.183823996_183823997insGTGATGAAGATGGTCT	ENSP00000401444:p.Ala336fs	False	False		Somatic	0				HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.A321fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.A351fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.A362fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.A336fs	p.A336fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	WXS	Illumina HiSeq	Phase_I	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1472_1473	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		336					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Frame_Shift_Ins	INS	ENST00000415389.2	37	c.1006_1007insGTGATGAAGATGGTCT	CCDS58868.1																																																																																				0.653	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	0	NM_182589		3:183823996
FLNC	2318	broad.mit.edu	37	7	128495281	128495282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:128495281_128495282insA	ENST00000325888.8	+	43	7425_7426	c.7164_7165insA	c.(7165-7167)gatfs	p.D2389fs	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Ins_p.D2356fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2389					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGTTCAATGATGAGCACAT	0.624																																						ENST00000325888.8		NA																	0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(7165-7167)gatfs		filamin C, gamma																																				SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128495281_128495282insA	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	Exception_encountered	7.37:g.128495281_128495282insA	ENSP00000327145:p.Asp2389fs	False	False		Somatic	0				RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Ins_p.D2356fs	p.D2389fs	NM_001458.4	NP_001449.3	WXS	Illumina HiSeq	Phase_I	Q14315	FLNC_HUMAN			43	7425_7426	+			2389					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Ins	INS	ENST00000325888.8	37	c.7164_7165insA	CCDS43644.1																																																																																				0.624	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	0			7:128495281
AKAP13	11214	broad.mit.edu	37	15	86124353	86124353	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:86124353G>A	ENST00000394518.2	+	7	3149	c.3054G>A	c.(3052-3054)gtG>gtA	p.V1018V	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.V1018V	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1018					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCCTGGTGCCACCAGGAG	0.572																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2		NA																	0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3052-3054)gtG>gtA		A kinase (PRKA) anchor protein 13							45.0	46.0	45.0					15																	86124353		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124353G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3054G>A	15.37:g.86124353G>A		False	False		Somatic	0				AKAP13_ENST00000361243.2_Silent_p.V1018V	p.V1018V	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	WXS	Illumina HiSeq	Phase_I	Q12802	AKP13_HUMAN			7	3149	+			1018					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.3054G>A	CCDS32319.1																																																																																				0.572	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	NM_007200		15:86124353
STYXL1	51657	broad.mit.edu	37	7	75634627	75634627	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:75634627C>T	ENST00000248600.1	-	6	891	c.549G>A	c.(547-549)aaG>aaA	p.K183K	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000451157.1_Silent_p.K183K|STYXL1_ENST00000431581.1_Silent_p.K183K|STYXL1_ENST00000340062.5_Silent_p.K87K|STYXL1_ENST00000359697.3_Silent_p.K183K	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	183	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTTTCAAGTCCTTCTGAATCT	0.398																																						ENST00000451157.1		NA																	0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(547-549)aaG>aaA		serine/threonine/tyrosine interacting-like 1							101.0	96.0	98.0					7																	75634627		2203	4300	6503	SO:0001819	synonymous_variant	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75634627C>T	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.549G>A	7.37:g.75634627C>T		False	False		Somatic	0				STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000248600.1_Silent_p.K183K|STYXL1_ENST00000340062.5_Silent_p.K87K|STYXL1_ENST00000431581.1_Silent_p.K183K|STYXL1_ENST00000359697.3_Silent_p.K183K	p.K183K			WXS	Illumina HiSeq	Phase_I	Q9Y6J8	STYL1_HUMAN			6	718	-			183			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Silent	SNP	ENST00000248600.1	37	c.549G>A	CCDS5580.1																																																																																				0.398	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	0	NM_016086		7:75634627
FMO3	2328	broad.mit.edu	37	1	171083214	171083214	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:171083214G>A	ENST00000367755.4	+	7	1006	c.895G>A	c.(895-897)Gta>Ata	p.V299I	FMO3_ENST00000542847.1_Missense_Mutation_p.V279I|FMO3_ENST00000538429.1_Missense_Mutation_p.V236I|FMO3_ENST00000392085.2_Missense_Mutation_p.V299I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	299					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CATTGTGTCCGTAAAGCCTAA	0.448																																						ENST00000367755.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(895-897)Gta>Ata		flavin containing monooxygenase 3							132.0	115.0	121.0					1																	171083214		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083214G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.895G>A	1.37:g.171083214G>A	ENSP00000356729:p.Val299Ile	False	False		Somatic	0				FMO3_ENST00000542847.1_Missense_Mutation_p.V279I|FMO3_ENST00000538429.1_Missense_Mutation_p.V236I|FMO3_ENST00000392085.2_Missense_Mutation_p.V299I	p.V299I	NM_001002294.2	NP_001002294.1	WXS	Illumina HiSeq	Phase_I	P31513	FMO3_HUMAN			7	1006	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		299					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.895G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.696916	0.00725	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.73	-3.92	0.04155	.	0.472641	0.25161	N	0.032676	T	0.07683	0.0193	N	0.05158	-0.105	0.09310	N	1	B;B;B	0.15141	0.006;0.012;0.002	B;B;B	0.13407	0.003;0.009;0.009	T	0.36529	-0.9744	10	0.12766	T	0.61	-5.0372	8.7136	0.34397	0.5223:0.1026:0.3751:0.0	.	236;279;299	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	I	299;299;279;236	ENSP00000356729:V299I;ENSP00000375935:V299I;ENSP00000444073:V279I;ENSP00000439500:V236I	ENSP00000356729:V299I	V	+	1	0	FMO3	169349838	0.000000	0.05858	0.034000	0.17996	0.041000	0.13682	-1.414000	0.02471	-1.022000	0.03346	-2.115000	0.00351	GTA		0.448	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	0	NM_006894		1:171083214
HECW1	23072	broad.mit.edu	37	7	43351452	43351452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:43351452C>T	ENST00000395891.2	+	4	723	c.118C>T	c.(118-120)Cga>Tga	p.R40*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.R40*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	40					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGAGCCGCTCCGATACAGCTA	0.617																																						ENST00000395891.2		NA																	0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(118-120)Cga>Tga		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							51.0	60.0	57.0					7																	43351452		1996	4148	6144	SO:0001587	stop_gained	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43351452C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.118C>T	7.37:g.43351452C>T	ENSP00000379228:p.Arg40*	False	False		Somatic	0				HECW1_ENST00000453890.1_Nonsense_Mutation_p.R40*	p.R40*	NM_015052.3	NP_055867.3	WXS	Illumina HiSeq	Phase_I	Q76N89	HECW1_HUMAN			4	723	+			NA					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	c.118C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838602	0.91117	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.96	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.103	0.65070	0.3056:0.6944:0.0:0.0	.	.	.	.	X	40;40;39	.	ENSP00000265522:R39X	R	+	1	2	HECW1	43317977	0.992000	0.36948	0.995000	0.50966	0.246000	0.25737	2.924000	0.48876	2.813000	0.96785	0.655000	0.94253	CGA		0.617	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	NM_015052		7:43351452
KEL	3792	broad.mit.edu	37	7	142655036	142655036	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:142655036T>G	ENST00000355265.2	-	6	1024	c.550A>C	c.(550-552)Aaa>Caa	p.K184Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	184					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGTCCATTTACCAGAGATG	0.517																																						ENST00000355265.2		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(550-552)Aaa>Caa		Kell blood group, metallo-endopeptidase							76.0	66.0	69.0					7																	142655036		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142655036T>G	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.550A>C	7.37:g.142655036T>G	ENSP00000347409:p.Lys184Gln	True	False		Somatic	0				KEL_ENST00000479768.2_5'UTR	p.K184Q	NM_000420.2	NP_000411.1	WXS	Illumina HiSeq	Phase_I	P23276	KELL_HUMAN			6	1024	-	Melanoma(164;0.059)		184					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.550A>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	T	8.336	0.827505	0.16749	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	T;T	0.73363	-0.74;-0.74	5.8	3.26	0.37387	Peptidase M13 (1);	0.316302	0.26719	N	0.022860	T	0.49677	0.1571	N	0.14661	0.345	0.09310	N	1	B	0.32010	0.351	B	0.29663	0.105	T	0.30416	-0.9979	10	0.16896	T	0.51	-4.6538	5.6937	0.17843	0.0:0.0867:0.1694:0.744	.	184	P23276	KELL_HUMAN	Q	184;165	ENSP00000347409:K184Q;ENSP00000420011:K165Q	ENSP00000347409:K184Q	K	-	1	0	KEL	142365158	0.003000	0.15002	0.096000	0.21009	0.846000	0.48090	0.398000	0.20899	0.992000	0.38840	0.528000	0.53228	AAA		0.517	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	0	NM_000420		7:142655036
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CATGGCTCGCACAGGGTGGAC	0.562																																						ENST00000373450.4		NA																	3	Substitution - Missense(3)	p.T4A(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(10-12)Aca>Gca			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						61.0	53.0	56.0					2																	234526363		2203	4300	6503	SO:0001583	missense	0				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234526363A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala	False	False		Somatic	0					p.T4A	NM_019076.4	NP_061949.3	WXS	Illumina HiSeq	Phase_I	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	NA					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.10A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA		0.562	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1	0			2:234526363
SLC2A7	155184	broad.mit.edu	37	1	9085071	9085071	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:9085071G>A	ENST00000400906.1	-	2	113	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	38					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGTTGTAGCCGTACTGGAAGG	0.647																																						ENST00000400906.1		NA																	0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.(112-114)taC>taT		solute carrier family 2 (facilitated glucose transporter), member 7							52.0	52.0	52.0					1																	9085071		2203	4300	6503	SO:0001819	synonymous_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9085071G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.114C>T	1.37:g.9085071G>A		False	False		Somatic	0					p.Y38Y	NM_207420.2	NP_997303.2	WXS	Illumina HiSeq	Phase_I	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	2	113	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	38					A2A333	Silent	SNP	ENST00000400906.1	37	c.114C>T	CCDS98.2																																																																																				0.647	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	0	NM_207420		1:9085071
SYNE2	23224	broad.mit.edu	37	14	64468799	64468799	+	Splice_Site	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:64468799G>C	ENST00000344113.4	+	29	3998	c.3786G>C	c.(3784-3786)agG>agC	p.R1262S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Splice_Site_p.R1262S|SYNE2_ENST00000358025.3_Splice_Site_p.R1262S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1262					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACACCTAAGGGTAAGTATAT	0.368																																						ENST00000358025.3		NA																	0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3784-3786)agG>agC		spectrin repeat containing, nuclear envelope 2							113.0	106.0	108.0					14																	64468799		1862	4096	5958	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64468799G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3786+1G>C	14.37:g.64468799G>C		True	False		Somatic	0				SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Splice_Site_p.R1262S|SYNE2_ENST00000554584.1_Splice_Site_p.R1262S	p.R1262S	NM_182914.2	NP_878918.2	WXS	Illumina HiSeq	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	29	4016	+			1262					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37	c.3786G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844143	0.32606	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59224	0.66;0.66;0.28	5.41	5.41	0.78517	.	0.323796	0.26446	N	0.024340	T	0.48732	0.1516	L	0.47716	1.5	0.80722	D	1	P;P	0.38504	0.501;0.634	B;B	0.28011	0.039;0.085	T	0.51450	-0.8704	10	0.39692	T	0.17	.	17.3435	0.87304	0.0:0.0:1.0:0.0	.	1262;1262	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	S	1262	ENSP00000350719:R1262S;ENSP00000341781:R1262S;ENSP00000452570:R1262S	ENSP00000261678:R1262S	R	+	3	2	SYNE2	63538552	1.000000	0.71417	0.941000	0.38009	0.045000	0.14185	5.812000	0.69194	2.709000	0.92574	0.655000	0.94253	AGG		0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	0	NM_182914	Missense_Mutation	14:64468799
S1PR1	1901	broad.mit.edu	37	1	101705012	101705012	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:101705012T>G	ENST00000305352.6	+	2	847	c.472T>G	c.(472-474)Ttc>Gtc	p.F158V	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	158					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GAGCAATAACTTCCGCCTCTT	0.557											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(472-474)Ttc>Gtc		sphingosine-1-phosphate receptor 1							99.0	93.0	95.0					1																	101705012		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705012T>G	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.472T>G	1.37:g.101705012T>G	ENSP00000305416:p.Phe158Val	False	False		Somatic	0	OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_ENST00000475821.1_3'UTR	p.F158V	NM_001400.4	NP_001391.2	WXS	Illumina HiSeq	Phase_I	P21453	S1PR1_HUMAN			2	847	+			158					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.472T>G	CCDS777.1	.	.	.	.	.	.	.	.	.	.	T	6.195	0.404153	0.11754	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36699	1.24	5.46	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.270993	0.42964	D	0.000624	T	0.04588	0.0125	N	0.02916	-0.46	0.31924	N	0.613066	B	0.02656	0.0	B	0.06405	0.002	T	0.38067	-0.9678	10	0.17369	T	0.5	.	7.8339	0.29360	0.0:0.0721:0.1384:0.7895	.	158	P21453	S1PR1_HUMAN	V	158	ENSP00000305416:F158V	ENSP00000305416:F158V	F	+	1	0	S1PR1	101477600	1.000000	0.71417	0.972000	0.41901	0.514000	0.34195	3.361000	0.52306	0.918000	0.36919	0.374000	0.22700	TTC		0.557	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	0	NM_001400		1:101705012
COL5A1	1289	broad.mit.edu	37	9	137593107	137593107	+	Silent	SNP	C	C	T	rs563191799		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:137593107C>T	ENST00000371817.3	+	4	996	c.582C>T	c.(580-582)agC>agT	p.S194S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	194	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGACCGCAGCGACCACCCCA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20096	0.0		0.0	False		,,,				2504	0.001					ENST00000371817.3		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(580-582)agC>agT		collagen, type V, alpha 1							170.0	124.0	140.0					9																	137593107		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593107C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.582C>T	9.37:g.137593107C>T		False	False		Somatic	0				COL5A1_ENST00000464187.1_3'UTR	p.S194S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	WXS	Illumina HiSeq	Phase_I	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	996	+		Myeloproliferative disorder(178;0.0341)	194			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.582C>T	CCDS6982.1																																																																																				0.522	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	0	NM_000093		9:137593107
KNDC1	85442	broad.mit.edu	37	10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A	rs182563365		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16017	0.0		0.0	False		,,,				2504	0.0					ENST00000304613.3		NA																	0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(1627-1629)Gtc>Atc		kinase non-catalytic C-lobe domain (KIND) containing 1			ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	47.0	42.0	43.0		1627	-5.3	0.0	10		43	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KNDC1	NM_152643.6	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	543/1750	135009218	4,13002	2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135009218G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1627G>A	10.37:g.135009218G>A	ENSP00000304437:p.Val543Ile	False	False		Somatic	0				KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I	p.V543I			WXS	Illumina HiSeq	Phase_I	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	10	1648	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	543			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1627G>A	CCDS7674.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.067	-0.671207	0.03403	2.27E-4	3.49E-4	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.32272	1.46;1.46;1.46	4.63	-5.31	0.02730	KIND (2);	0.976965	0.08346	N	0.960109	T	0.13415	0.0325	N	0.15975	0.35	0.09310	N	1	B;B	0.17465	0.022;0.005	B;B	0.09377	0.004;0.002	T	0.28138	-1.0053	10	0.27082	T	0.32	-20.5636	5.616	0.17432	0.5361:0.0:0.2633:0.2006	.	478;543	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	I	543;543;478	ENSP00000304437:V543I;ENSP00000357561:V543I;ENSP00000357560:V478I	ENSP00000304437:V543I	V	+	1	0	KNDC1	134859208	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.398000	0.07259	-0.658000	0.05366	-0.692000	0.03713	GTC		0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	0	NM_152643		10:135009218
OR4D5	219875	broad.mit.edu	37	11	123810974	123810974	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:123810974G>A	ENST00000307033.2	+	1	725	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCTGGGATCGTACACAGCAC	0.512																																						ENST00000307033.2		NA																	0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(649-651)tcG>tcA		olfactory receptor, family 4, subfamily D, member 5							255.0	236.0	242.0					11																	123810974		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810974G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.651G>A	11.37:g.123810974G>A		False	False		Somatic	0					p.S217S	NM_001001965.1	NP_001001965.1	WXS	Illumina HiSeq	Phase_I	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	725	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	217					B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.651G>A	CCDS31699.1																																																																																				0.512	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	0	NM_001001965		11:123810974
CELSR3	1951	broad.mit.edu	37	3	48696487	48696487	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:48696487C>T	ENST00000164024.4	-	1	3861	c.3581G>A	c.(3580-3582)cGc>cAc	p.R1194H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1194H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1194	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGGGATGCGCCCAATAAT	0.537																																						ENST00000544264.1		NA																	0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3580-3582)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 3							117.0	111.0	113.0					3																	48696487		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696487C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3581G>A	3.37:g.48696487C>T	ENSP00000164024:p.Arg1194His	False	False		Somatic	0				CELSR3_ENST00000164024.4_Missense_Mutation_p.R1194H	p.R1194H			WXS	Illumina HiSeq	Phase_I	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3861	-			1194			Cadherin 9.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3581G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049277	0.55218	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.39406	1.08;1.08	5.44	4.56	0.56223	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.59797	0.2220	M	0.82056	2.57	0.46437	D	0.999045	D;D	0.89917	1.0;0.999	D;P	0.63488	0.915;0.869	T	0.63545	-0.6613	9	0.72032	D	0.01	.	7.936	0.29931	0.0:0.7749:0.0:0.2251	.	1194;1264	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	1194	ENSP00000164024:R1194H;ENSP00000445694:R1194H	ENSP00000164024:R1194H	R	-	2	0	CELSR3	48671491	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.728000	0.47319	2.561000	0.86390	0.561000	0.74099	CGC		0.537	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	0	NM_001407		3:48696487
PCDHA1	56147	broad.mit.edu	37	5	140167336	140167336	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140167336C>T	ENST00000504120.2	+	1	1461	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA1_ENST00000394633.3_Silent_p.N487N|PCDHA1_ENST00000378133.3_Silent_p.N487N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N487K(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657																																						ENST00000504120.2		NA																	2	Substitution - Missense(2)	p.N487K(2)	lung(2)	breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1459-1461)aaC>aaT									68.0	73.0	71.0					5																	140167336		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140167336C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1461C>T	5.37:g.140167336C>T		False	False		Somatic	0				PCDHA1_ENST00000378133.3_Silent_p.N487N|PCDHA1_ENST00000394633.3_Silent_p.N487N	p.N487N	NM_018900.2	NP_061723.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1461	+			NA					O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1461C>T	CCDS54913.1																																																																																				0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	0	NM_018900		5:140167336
OR1C1	26188	broad.mit.edu	37	1	247920907	247920907	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:247920907G>T	ENST00000408896.2	-	1	1075	c.802C>A	c.(802-804)Cct>Act	p.P268T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	268					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCGCTCTCAGGCATATGGGGG	0.517																																						ENST00000408896.2		NA																	0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(802-804)Cct>Act		olfactory receptor, family 1, subfamily C, member 1							87.0	84.0	85.0					1																	247920907		2021	4201	6222	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920907G>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.802C>A	1.37:g.247920907G>T	ENSP00000386138:p.Pro268Thr	False	False		Somatic	0					p.P268T	NM_012353.2	NP_036485.2	WXS	Illumina HiSeq	Phase_I	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	1075	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	268					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.802C>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.835122	0.00579	.	.	ENSG00000221888	ENST00000408896	T	0.00207	8.55	3.22	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.11313	0.125	0.09310	N	1	B	0.22800	0.075	B	0.32393	0.145	T	0.09122	-1.0689	9	0.38643	T	0.18	.	5.286	0.15702	0.1055:0.0:0.5646:0.3299	.	268	Q15619	OR1C1_HUMAN	T	268	ENSP00000386138:P268T	ENSP00000386138:P268T	P	-	1	0	OR1C1	245987530	0.000000	0.05858	0.009000	0.14445	0.036000	0.12997	-0.309000	0.08145	0.681000	0.31386	0.591000	0.81541	CCT		0.517	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1	0			1:247920907
BCORL1	63035	broad.mit.edu	37	X	129185988	129185988	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:129185988G>A	ENST00000218147.7	+	12	5047	c.4850G>A	c.(4849-4851)cGc>cAc	p.R1617H	BCORL1_ENST00000359304.2_Missense_Mutation_p.R1487H|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1617H|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1691H			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1617					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGTGTCCCGCGGGTAAGTG	0.527													G|||	1	0.000264901	0.0	0.0	3775	,	,		14595	0.0		0.0	False		,,,				2504	0.001					ENST00000540052.1		NA																	0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4849-4851)cGc>cAc		BCL6 corepressor-like 1							110.0	87.0	95.0					X																	129185988		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129185988G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4850G>A	X.37:g.129185988G>A	ENSP00000218147:p.Arg1617His	True	False		Somatic	0				BCORL1_ENST00000359304.2_Missense_Mutation_p.R1487H|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1691H|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1617H	p.R1617H	NM_021946.4	NP_068765	WXS	Illumina HiSeq	Phase_I	Q5H9F3	BCORL_HUMAN			11	4894	+			1617					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4850G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798032	0.31777	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.40476	1.03;1.32;1.04;1.03;1.37	5.53	2.58	0.30949	.	0.759301	0.10829	N	0.629586	T	0.36220	0.0959	L	0.47716	1.5	0.32970	D	0.522206	B;B	0.24651	0.108;0.023	B;B	0.18871	0.023;0.006	T	0.42310	-0.9459	10	0.66056	D	0.02	-3.2989	9.7559	0.40502	0.2547:0.0:0.7453:0.0	.	1691;1617	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	H	1617;1691;1487;1617;1291	ENSP00000218147:R1617H;ENSP00000307541:R1691H;ENSP00000352253:R1487H;ENSP00000437775:R1617H;ENSP00000399483:R1291H	ENSP00000218147:R1617H	R	+	2	0	BCORL1	129013669	0.988000	0.35896	0.628000	0.29241	0.404000	0.30871	2.792000	0.47837	0.420000	0.25954	0.513000	0.50165	CGC		0.527	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	0	NM_021946		X:129185988
PUM2	23369	broad.mit.edu	37	2	20508209	20508209	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:20508209G>A	ENST00000361078.2	-	5	677	c.655C>T	c.(655-657)Cct>Tct	p.P219S	PUM2_ENST00000403432.1_Missense_Mutation_p.P219S|PUM2_ENST00000536417.1_Missense_Mutation_p.P163S|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000319801.5_Missense_Mutation_p.P219S|PUM2_ENST00000338086.5_Missense_Mutation_p.P219S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	219	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGTTTCAGGATTTGAAAAT	0.448																																						ENST00000361078.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(655-657)Cct>Tct		pumilio RNA-binding family member 2							84.0	85.0	85.0					2																	20508209		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20508209G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.655C>T	2.37:g.20508209G>A	ENSP00000354370:p.Pro219Ser	False	False		Somatic	0				PUM2_ENST00000403432.1_Missense_Mutation_p.P219S|PUM2_ENST00000338086.5_Missense_Mutation_p.P219S|PUM2_ENST00000319801.5_Missense_Mutation_p.P219S|PUM2_ENST00000536417.1_Missense_Mutation_p.P163S|PUM2_ENST00000420234.1_5'UTR	p.P219S			WXS	Illumina HiSeq	Phase_I	Q8TB72	PUM2_HUMAN			5	677	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		219			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.655C>T		.	.	.	.	.	.	.	.	.	.	G	14.59	2.581242	0.46006	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.18016	2.31;2.58;2.58;2.24;2.31;2.31	6.07	4.22	0.49857	.	0.151121	0.64402	D	0.000008	T	0.08044	0.0201	N	0.08118	0	0.38222	D	0.94079	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.25882	-1.0119	10	0.21014	T	0.42	-4.9397	8.5974	0.33723	0.0667:0.0:0.5388:0.3945	.	163;219;219	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	S	219;219;219;110;219;163;219	ENSP00000338173:P219S;ENSP00000354370:P219S;ENSP00000326746:P219S;ENSP00000409905:P110S;ENSP00000385992:P219S;ENSP00000440093:P163S	ENSP00000326746:P219S	P	-	1	0	PUM2	20371690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.825000	0.39081	0.840000	0.34995	0.650000	0.86243	CCT		0.448	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_015317		2:20508209
PTPN12	5782	broad.mit.edu	37	7	77212936	77212936	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:77212936T>G	ENST00000248594.6	+	4	622	c.350T>G	c.(349-351)tTt>tGt	p.F117C	PTPN12_ENST00000435495.2_Intron|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	117	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GTAATAGATTTTTGGAGGATG	0.299																																						ENST00000248594.6		NA																	0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(349-351)tTt>tGt		protein tyrosine phosphatase, non-receptor type 12							109.0	110.0	110.0					7																	77212936		2203	4300	6503	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77212936T>G		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.350T>G	7.37:g.77212936T>G	ENSP00000248594:p.Phe117Cys	True	False		Somatic	0				PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_Intron	p.F117C	NM_002835.3	NP_002826.3	WXS	Illumina HiSeq	Phase_I	Q05209	PTN12_HUMAN			4	622	+			117			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.350T>G	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.31|18.31	3.594923|3.594923	0.66219|0.66219	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594|ENST00000522115	T|.	0.39997|.	1.05|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.051905|0.051905	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89339|0.89339	0.6687|0.6687	H|H	0.99626|0.99626	4.665|4.665	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.92460|0.92460	0.5977|0.5977	10|7	0.87932|0.87932	D|D	0|0	.|.	10.7297|10.7297	0.46089|0.46089	0.1422:0.0:0.0:0.8578|0.1422:0.0:0.0:0.8578	.|.	117|.	Q05209|.	PTN12_HUMAN|.	C|V	117|80	ENSP00000248594:F117C|.	ENSP00000248594:F117C|ENSP00000430726:F80V	F|F	+|+	2|1	0|0	PTPN12|PTPN12	77050872|77050872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.753000|4.753000	0.62183|0.62183	2.140000|2.140000	0.66376|0.66376	0.482000|0.482000	0.46254|0.46254	TTT|TTT		0.299	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3	0			7:77212936
CLCN6	1185	broad.mit.edu	37	1	11897102	11897102	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:11897102A>G	ENST00000346436.6	+	19	2079	c.2027A>G	c.(2026-2028)cAg>cGg	p.Q676R	CLCN6_ENST00000376487.3_Missense_Mutation_p.Q654R|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q676R	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	676					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACGGAGCCAGTCCATGAAG	0.602																																						ENST00000346436.6		NA																	0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2026-2028)cAg>cGg		chloride channel, voltage-sensitive 6							70.0	66.0	67.0					1																	11897102		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11897102A>G	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2027A>G	1.37:g.11897102A>G	ENSP00000234488:p.Gln676Arg	False	False		Somatic	0				CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.Q654R|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q676R	p.Q676R	NM_001286.3	NP_001277	WXS	Illumina HiSeq	Phase_I	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	19	2079	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	676					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2027A>G	CCDS138.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664137	0.29604	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91237	-2.8;-2.8;-2.81	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	L	0.34521	1.04	0.80722	D	1	B;B	0.17268	0.021;0.012	B;B	0.12837	0.008;0.004	T	0.80251	-0.1460	10	0.16420	T	0.52	-27.6288	15.1511	0.72700	1.0:0.0:0.0:0.0	.	654;676	F8W9R3;P51797	.;CLCN6_HUMAN	R	676;654;676	ENSP00000234488:Q676R;ENSP00000365670:Q654R;ENSP00000365679:Q676R	ENSP00000234488:Q676R	Q	+	2	0	CLCN6	11819689	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.422000	0.90262	2.189000	0.69895	0.459000	0.35465	CAG		0.602	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	0	NM_001286		1:11897102
TTC21A	199223	broad.mit.edu	37	3	39177931	39177931	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:39177931G>A	ENST00000431162.2	+	23	3183	c.3049G>A	c.(3049-3051)Gcc>Acc	p.A1017T	TTC21A_ENST00000301819.6_Missense_Mutation_p.A1018T|TTC21A_ENST00000440121.1_Missense_Mutation_p.A969T|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1017										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTTGAATTGGCCAAGAAGGT	0.438																																						ENST00000301819.6		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(3052-3054)Gcc>Acc		tetratricopeptide repeat domain 21A							138.0	143.0	142.0					3																	39177931		1891	4116	6007	SO:0001583	missense	199223						binding	g.chr3:39177931G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3049G>A	3.37:g.39177931G>A	ENSP00000398211:p.Ala1017Thr	False	False		Somatic	0				TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.A969T|TTC21A_ENST00000431162.2_Missense_Mutation_p.A1017T	p.A1018T	NM_145755.2	NP_665698.2	WXS	Illumina HiSeq	Phase_I	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	23	3229	+			1017					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3052G>A	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175489	0.38413	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.54479	0.57;0.57;0.57	4.79	2.7	0.31948	Tetratricopeptide repeat-containing (1);	0.648196	0.14838	N	0.295467	T	0.57095	0.2030	M	0.73430	2.235	0.09310	N	1	B;B;B	0.27416	0.178;0.005;0.003	B;B;B	0.33960	0.173;0.015;0.006	T	0.57370	-0.7823	10	0.66056	D	0.02	-5.5503	13.7973	0.63180	0.0:0.0:0.7115:0.2885	.	969;1018;1017	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	T	1018;1000;1017;969	ENSP00000301819:A1018T;ENSP00000398211:A1017T;ENSP00000410882:A969T	ENSP00000301819:A1018T	A	+	1	0	TTC21A	39152935	1.000000	0.71417	0.027000	0.17364	0.857000	0.48899	1.702000	0.37836	0.990000	0.38787	0.462000	0.41574	GCC		0.438	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	0	NM_145755		3:39177931
EEF2	1938	broad.mit.edu	37	19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:3980040G>C	ENST00000309311.6	-	10	1459	c.1371C>G	c.(1369-1371)taC>taG	p.Y457*	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6		NA																	0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1369-1371)taC>taG		eukaryotic translation elongation factor 2							43.0	39.0	40.0					19																	3980040		2203	4300	6503	SO:0001587	stop_gained	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3980040G>C	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1371C>G	19.37:g.3980040G>C	ENSP00000307940:p.Tyr457*	False	False		Somatic	0					p.Y457*	NM_001961.3	NP_001952.1	WXS	Illumina HiSeq	Phase_I	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1459	-		Hepatocellular(1079;0.137)	457					B2RMP5|D6W618|Q58J86	Nonsense_Mutation	SNP	ENST00000309311.6	37	c.1371C>G	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611568	0.96637	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.45	-4.98	0.03019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.4193	14.8867	0.70575	0.5244:0.0:0.4756:0.0	.	.	.	.	X	457	.	ENSP00000307940:Y457X	Y	-	3	2	EEF2	3931040	0.000000	0.05858	0.873000	0.34254	0.950000	0.60333	-2.827000	0.00746	-0.965000	0.03591	-1.134000	0.01955	TAC		0.627	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	0	NM_001961		19:3980040
NPHP3	27031	broad.mit.edu	37	3	132415576	132415576	+	Splice_Site	SNP	G	G	A	rs542131508		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:132415576G>A	ENST00000337331.5	-	15	2256	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	724					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCACTCACCGCGCGATCATT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		17808	0.0		0.0	False		,,,				2504	0.001					ENST00000337331.5		NA																	0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2170-2172)Cgt>Tgt		nephronophthisis 3 (adolescent)							154.0	138.0	144.0					3																	132415576		2203	4300	6503	SO:0001630	splice_region_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132415576G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2171+1C>T	3.37:g.132415576G>A		True	False		Somatic	0				NPHP3_ENST00000326682.8_Intron	p.R724C	NM_153240.4	NP_694972.3	WXS	Illumina HiSeq	Phase_I	Q7Z494	NPHP3_HUMAN			15	2256	-			724					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Splice_Site	SNP	ENST00000337331.5	37	c.2170C>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071278	0.20147	.	.	ENSG00000113971	ENST00000337331	T	0.64085	-0.08	5.9	-3.65	0.04502	.	0.566832	0.22573	N	0.058315	T	0.30448	0.0765	N	0.02539	-0.55	0.35234	D	0.777212	B	0.02656	0.0	B	0.01281	0.0	T	0.04373	-1.0956	10	0.45353	T	0.12	-0.0351	11.0565	0.47922	0.6313:0.0:0.2772:0.0916	.	724	Q7Z494	NPHP3_HUMAN	C	724	ENSP00000338766:R724C	ENSP00000338766:R724C	R	-	1	0	NPHP3	133898266	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.361000	0.07612	-0.584000	0.05913	0.650000	0.86243	CGT		0.458	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	0	NM_153240	Missense_Mutation	3:132415576
CUBN	8029	broad.mit.edu	37	10	17169885	17169885	+	Silent	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:17169885C>A	ENST00000377833.4	-	3	356	c.291G>T	c.(289-291)ggG>ggT	p.G97G	CUBN_ENST00000377823.1_Silent_p.G97G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	97					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAATTGCACTCCCTTTTAACT	0.323																																						ENST00000377833.4		NA																	0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(289-291)ggG>ggT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						202.0	199.0	200.0					10																	17169885		2202	4300	6502	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17169885C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.291G>T	10.37:g.17169885C>A		True	False		Somatic	0				CUBN_ENST00000377823.1_Silent_p.G97G	p.G97G	NM_001081.3	NP_001072.2	WXS	Illumina HiSeq	Phase_I	O60494	CUBN_HUMAN			3	356	-			97					B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.291G>T	CCDS7113.1																																																																																				0.323	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	NM_001081		10:17169885
PYROXD2	84795	broad.mit.edu	37	10	100157191	100157191	+	Missense_Mutation	SNP	G	G	A	rs568245398	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:100157191G>A	ENST00000370575.4	-	6	584	c.536C>T	c.(535-537)gCg>gTg	p.A179V	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	179							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CACGGGGGCCGCATCCAGCAG	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		22686	0.002		0.0	False		,,,				2504	0.0					ENST00000370575.4		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(535-537)gCg>gTg		pyridine nucleotide-disulphide oxidoreductase domain 2							77.0	68.0	71.0					10																	100157191		2203	4300	6503	SO:0001583	missense	84795						oxidoreductase activity	g.chr10:100157191G>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.536C>T	10.37:g.100157191G>A	ENSP00000359607:p.Ala179Val	False	False		Somatic	0				PYROXD2_ENST00000483923.1_5'UTR	p.A179V	NM_032709.2	NP_116098.2	WXS	Illumina HiSeq	Phase_I	Q8N2H3	PYRD2_HUMAN			6	584	-			179					D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	c.536C>T	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922912	0.18056	.	.	ENSG00000119943	ENST00000370575	T	0.58940	0.3	5.47	2.64	0.31445	.	0.420066	0.29424	N	0.012194	T	0.54143	0.1840	M	0.75447	2.3	0.29975	N	0.81819	B	0.09022	0.002	B	0.06405	0.002	T	0.51585	-0.8687	10	0.32370	T	0.25	-28.5325	10.5055	0.44832	0.2151:0.0:0.7849:0.0	.	179	Q8N2H3	PYRD2_HUMAN	V	179	ENSP00000359607:A179V	ENSP00000359607:A179V	A	-	2	0	PYROXD2	100147181	0.339000	0.24784	0.199000	0.23439	0.516000	0.34256	2.976000	0.49289	0.301000	0.22738	-1.060000	0.02296	GCG		0.572	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	0	NM_032709		10:100157191
DNAH1	25981	broad.mit.edu	37	3	52387151	52387151	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:52387151C>G	ENST00000420323.2	+	19	3321	c.3060C>G	c.(3058-3060)ttC>ttG	p.F1020L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1020	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAAGGAGTTCCAACCCTACC	0.602																																						ENST00000420323.2		NA																	0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3058-3060)ttC>ttG		dynein, axonemal, heavy chain 1							50.0	54.0	52.0					3																	52387151		2085	4219	6304	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52387151C>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3060C>G	3.37:g.52387151C>G	ENSP00000401514:p.Phe1020Leu	False	False		Somatic	0					p.F1020L	NM_015512.4	NP_056327	WXS	Illumina HiSeq	Phase_I	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	19	3321	+			1020			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.3060C>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499784	0.85176	.	.	ENSG00000114841	ENST00000420323	T	0.58940	0.3	5.54	4.66	0.58398	.	0.000000	0.56097	D	0.000031	T	0.60907	0.2305	L	0.42632	1.34	0.51012	D	0.999902	D;P	0.76494	0.999;0.931	D;D	0.75484	0.986;0.936	T	0.57171	-0.7857	10	0.05833	T	0.94	.	10.0759	0.42360	0.0:0.8508:0.0:0.1492	.	1020;1020	C9JXH6;Q9P2D7-3	.;.	L	1020	ENSP00000401514:F1020L	ENSP00000401514:F1020L	F	+	3	2	DNAH1	52362191	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.810000	0.47979	2.626000	0.88956	0.650000	0.86243	TTC		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	0	NM_015512		3:52387151
PLXNB2	23654	broad.mit.edu	37	22	50728171	50728171	+	Silent	SNP	G	G	A	rs369882286		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:50728171G>A	ENST00000449103.1	-	3	983	c.843C>T	c.(841-843)gcC>gcT	p.A281A	PLXNB2_ENST00000359337.4_Silent_p.A281A			O15031	PLXB2_HUMAN	plexin B2	281	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGAGGCGGCCAGGCAGG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16198	0.0		0.0	False		,,,				2504	0.001					ENST00000449103.1		NA																	0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(841-843)gcC>gcT		plexin B2		G		0,3956		0,0,1978	29.0	33.0	32.0		843	-9.2	0.0	22		32	1,8299		0,1,4149	no	coding-synonymous	PLXNB2	NM_012401.3		0,1,6127	AA,AG,GG		0.012,0.0,0.0082		281/1839	50728171	1,12255	1978	4150	6128	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728171G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.843C>T	22.37:g.50728171G>A		False	False		Somatic	0				PLXNB2_ENST00000359337.4_Silent_p.A281A	p.A281A			WXS	Illumina HiSeq	Phase_I	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	983	-		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)	281			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.843C>T	CCDS43035.1																																																																																				0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	0	NM_012401		22:50728171
IGFALS	3483	broad.mit.edu	37	16	1843655	1843655	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:1843655C>A	ENST00000215539.3	-	0	109				IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000415638.3_De_novo_Start_InFrame			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGGGCCATCCTGCATGCAGG	0.716																																						ENST00000415638.3		NA																	0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8								insulin-like growth factor binding protein, acid labile subunit							17.0	15.0	16.0					16																	1843655		2187	4294	6481			3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1843655C>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1843655C>A		True	False		Somatic	0				IGFALS_ENST00000215539.3_De_novo_Start_InFrame|IGFALS_ENST00000568221.1_Intron		NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	WXS	Illumina HiSeq	Phase_I	P35858	ALS_HUMAN			0	78	-			NA					B4DZY8|E9PGU3	Translation_Start_Site	SNP	ENST00000215539.3	37		CCDS10446.1																																																																																				0.716	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2	0			16:1843655
CNKSR2	22866	broad.mit.edu	37	X	21627423	21627423	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:21627423T>C	ENST00000379510.3	+	20	2416	c.2380T>C	c.(2380-2382)Ttc>Ctc	p.F794L	CNKSR2_ENST00000543067.1_Missense_Mutation_p.F745L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.F764L|CNKSR2_ENST00000279451.4_Missense_Mutation_p.F794L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	794					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGATTCTGTCTTCTCTGACTC	0.567																																						ENST00000425654.2		NA																	0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2290-2292)Ttc>Ctc		connector enhancer of kinase suppressor of Ras 2							78.0	75.0	76.0					X																	21627423		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627423T>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2380T>C	X.37:g.21627423T>C	ENSP00000368824:p.Phe794Leu	False	False		Somatic	0				CNKSR2_ENST00000279451.4_Missense_Mutation_p.F794L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.F745L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.F794L	p.F764L	NM_001168647.1	NP_001162118.1	WXS	Illumina HiSeq	Phase_I	Q8WXI2	CNKR2_HUMAN			19	2770	+			794					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2290T>C	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577480	0.28180	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.17691	2.52;2.26;2.27;2.55	5.51	5.51	0.81932	.	0.161421	0.56097	D	0.000028	T	0.17619	0.0423	L	0.60455	1.87	0.47037	D	0.999295	B;B;B;B	0.18610	0.0;0.0;0.008;0.029	B;B;B;B	0.16289	0.002;0.001;0.015;0.008	T	0.06006	-1.0851	10	0.08599	T	0.76	-27.16	14.6111	0.68517	0.0:0.0:0.0:1.0	.	764;745;386;794	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	L	764;745;794;794	ENSP00000397906:F764L;ENSP00000444633:F745L;ENSP00000279451:F794L;ENSP00000368824:F794L	ENSP00000279451:F794L	F	+	1	0	CNKSR2	21537344	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.187000	0.58344	1.831000	0.53308	0.417000	0.27973	TTC		0.567	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	0	NM_014927		X:21627423
MC5R	4161	broad.mit.edu	37	18	13825811	13825811	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:13825811C>T	ENST00000324750.3	+	1	269	c.47C>T	c.(46-48)gCc>gTc	p.A16V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	16					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AACCTGAATGCCACAGAGGGC	0.438																																						ENST00000324750.3		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(46-48)gCc>gTc		melanocortin 5 receptor							86.0	84.0	84.0					18																	13825811		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13825811C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.47C>T	18.37:g.13825811C>T	ENSP00000318077:p.Ala16Val	False	False		Somatic	0					p.A16V	NM_005913.2	NP_005904.1	WXS	Illumina HiSeq	Phase_I	P33032	MC5R_HUMAN			1	269	+			16					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.47C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916374	0.33815	.	.	ENSG00000176136	ENST00000324750	T	0.37235	1.21	5.3	3.51	0.40186	.	1.217370	0.05665	N	0.587595	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22173	-1.0224	10	0.49607	T	0.09	.	6.4409	0.21849	0.0:0.6892:0.1497:0.161	.	16	P33032	MC5R_HUMAN	V	16	ENSP00000318077:A16V	ENSP00000318077:A16V	A	+	2	0	MC5R	13815811	0.001000	0.12720	0.670000	0.29842	0.921000	0.55340	0.478000	0.22212	0.615000	0.30124	0.455000	0.32223	GCC		0.438	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	0	NM_005913		18:13825811
LIN28B	389421	broad.mit.edu	37	6	105474175	105474175	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:105474175C>A	ENST00000345080.4	+	3	404	c.201C>A	c.(199-201)agC>agA	p.S67R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	67	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CTTTACAGAGCAAACTATTCA	0.338																																						ENST00000345080.4		NA																	0				large_intestine(1)|lung(10)|ovary(1)	12						c.(199-201)agC>agA		lin-28 homolog B (C. elegans)							67.0	76.0	73.0					6																	105474175		2196	4298	6494	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105474175C>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.201C>A	6.37:g.105474175C>A	ENSP00000344401:p.Ser67Arg	True	False		Somatic	0					p.S67R	NM_001004317.3	NP_001004317.1	WXS	Illumina HiSeq	Phase_I	Q6ZN17	LN28B_HUMAN			3	404	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	67			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.201C>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783141	0.70222	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.92	5.05	0.67936	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.074367	0.85682	D	0.000000	T	0.61160	0.2325	L	0.49640	1.575	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.66497	0.818;0.944	T	0.65302	-0.6201	9	0.52906	T	0.07	-13.7426	14.9456	0.71029	0.0:0.9318:0.0:0.0682	.	44;67	A7E2T3;Q6ZN17	.;LN28B_HUMAN	R	67	.	ENSP00000344401:S67R	S	+	3	2	LIN28B	105580868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.128000	0.50492	1.499000	0.48617	0.650000	0.86243	AGC		0.338	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	0	NM_001004317		6:105474175
FBXL7	23194	broad.mit.edu	37	5	15928366	15928366	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000510662.1_Silent_p.N118N|FBXL7_ENST00000329673.7_Silent_p.N153N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	165					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGACCATCAACGTGGACCGCG	0.667																																						ENST00000504595.1		NA																	0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(493-495)aaC>aaT		F-box and leucine-rich repeat protein 7							24.0	28.0	27.0					5																	15928366		2118	4226	6344	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928366C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.495C>T	5.37:g.15928366C>T		False	False		Somatic	0				FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	p.N165N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	WXS	Illumina HiSeq	Phase_I	Q9UJT9	FBXL7_HUMAN			3	976	+			165					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.495C>T	CCDS54833.1																																																																																				0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	0	NM_012304		5:15928366
CHRNA9	55584	broad.mit.edu	37	4	40339267	40339267	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:40339267G>A	ENST00000310169.2	+	3	390	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	84					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)	p.R84H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TTGTGGATCCGCCAAATCTGG	0.483																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2		NA																	1	Substitution - Missense(1)	p.R84H(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(250-252)cGc>cAc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)																																			SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40339267G>A	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.251G>A	4.37:g.40339267G>A	ENSP00000312663:p.Arg84His	False	False		Somatic	0					p.R84H	NM_017581.3	NP_060051.2	WXS	Illumina HiSeq	Phase_I	Q9UGM1	ACHA9_HUMAN			3	390	+			84					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.251G>A	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045322	0.93685	.	.	ENSG00000174343	ENST00000310169	T	0.80214	-1.35	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.046822	0.85682	D	0.000000	D	0.90937	0.7151	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91105	0.4917	10	0.66056	D	0.02	.	20.1174	0.97942	0.0:0.0:1.0:0.0	.	84	Q9UGM1	ACHA9_HUMAN	H	84	ENSP00000312663:R84H	ENSP00000312663:R84H	R	+	2	0	CHRNA9	40034024	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.476000	0.97823	2.771000	0.95319	0.591000	0.81541	CGC		0.483	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1	0			4:40339267
L3MBTL4	91133	broad.mit.edu	37	18	6239823	6239823	+	Missense_Mutation	SNP	C	C	T	rs199523434		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:6239823C>T	ENST00000284898.6	-	9	801	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V201M|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.V201M|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V14M|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V201M	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	201					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCCTGTCCACGGCCTCCAGC	0.463																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(601-603)Gtg>Atg		l(3)mbt-like 4 (Drosophila)							129.0	107.0	114.0					18																	6239823		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6239823C>T	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.601G>A	18.37:g.6239823C>T	ENSP00000284898:p.Val201Met	False	False		Somatic	0				L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V14M|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V201M|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.V201M|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V201M	p.V201M			WXS	Illumina HiSeq	Phase_I	Q8NA19	LMBL4_HUMAN			9	801	-		Colorectal(10;0.0249)	201					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.601G>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095859	0.56075	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.35	-1.99	0.07457	.	0.485871	0.17200	N	0.183141	T	0.65616	0.2708	H	0.95982	3.75	0.09310	N	1	D;D	0.89917	1.0;0.967	D;P	0.68483	0.958;0.636	T	0.60702	-0.7211	10	0.87932	D	0	.	10.7292	0.46087	0.0:0.4918:0.0:0.5082	.	201;201	Q8NA19;F8W9S8	LMBL4_HUMAN;.	M	201;201;201;14;201	ENSP00000382976:V201M;ENSP00000318543:V201M;ENSP00000284898:V201M;ENSP00000444774:V14M;ENSP00000382975:V201M	ENSP00000284898:V201M	V	-	1	0	L3MBTL4	6229823	0.017000	0.18338	0.002000	0.10522	0.857000	0.48899	0.514000	0.22786	-0.856000	0.04120	-0.469000	0.05056	GTG		0.463	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	0	NM_173464		18:6239823
FAT3	120114	broad.mit.edu	37	11	92532543	92532543	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:92532543G>A	ENST00000298047.6	+	9	6381	c.6364G>A	c.(6364-6366)Gtc>Atc	p.V2122I	FAT3_ENST00000409404.2_Missense_Mutation_p.V2122I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1972I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2122	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2122L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGACCTATGTCCTGCAGGA	0.423										TCGA Ovarian(4;0.039)																												ENST00000298047.6		NA																	2	Substitution - Missense(2)	p.V2122L(2)	lung(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6364-6366)Gtc>Atc		FAT atypical cadherin 3							47.0	47.0	47.0					11																	92532543		1905	4128	6033	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532543G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6364G>A	11.37:g.92532543G>A	ENSP00000298047:p.Val2122Ile	False	False	TCGA Ovarian(4;0.039)	Somatic	0				FAT3_ENST00000409404.2_Missense_Mutation_p.V2122I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1972I	p.V2122I			WXS	Illumina HiSeq	Phase_I	Q8TDW7	FAT3_HUMAN			9	6381	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2122			Cadherin 19.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6364G>A		.	.	.	.	.	.	.	.	.	.	G	6.771	0.511125	0.12883	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01767	4.65;4.65;4.65	5.9	0.248	0.15526	.	.	.	.	.	T	0.00936	0.0031	N	0.12853	0.265	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53464	-0.8435	9	0.23302	T	0.38	.	0.7489	0.00987	0.2335:0.2878:0.2715:0.2072	.	2122	Q8TDW7-3	.	I	2122;2122;1972	ENSP00000298047:V2122I;ENSP00000387040:V2122I;ENSP00000432586:V1972I	ENSP00000298047:V2122I	V	+	1	0	FAT3	92172191	0.011000	0.17503	0.983000	0.44433	0.964000	0.63967	0.949000	0.29109	0.412000	0.25729	-0.136000	0.14681	GTC		0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_001008781		11:92532543
SLC12A7	10723	broad.mit.edu	37	5	1074737	1074737	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:1074737C>A	ENST00000264930.5	-	16	2060	c.2017G>T	c.(2017-2019)Gcc>Tcc	p.A673S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	673					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGTAGCGGGCGGCGTTCAGG	0.672																																						ENST00000264930.5		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2017-2019)Gcc>Tcc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						57.0	53.0	55.0					5																	1074737		2202	4298	6500	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1074737C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2017G>T	5.37:g.1074737C>A	ENSP00000264930:p.Ala673Ser	True	False		Somatic	0					p.A673S	NM_006598.2	NP_006589.2	WXS	Illumina HiSeq	Phase_I	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		16	2060	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		673					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2017G>T	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.40|18.40	3.616049|3.616049	0.66672|0.66672	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.98862|.	-5.19|.	4.11|4.11	4.11|4.11	0.48088|0.48088	Amino acid permease domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84097|0.84097	0.5397|0.5397	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88363|0.88363	0.2989|0.2989	10|5	0.87932|.	D|.	0|.	.|.	14.1738|14.1738	0.65527|0.65527	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	673|.	Q9Y666|.	S12A7_HUMAN|.	S|L	673|30	ENSP00000264930:A673S|.	ENSP00000264930:A673S|.	A|R	-|-	1|2	0|0	SLC12A7|SLC12A7	1127737|1127737	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.045000|0.045000	0.14185|0.14185	6.881000|6.881000	0.75584|0.75584	1.996000|1.996000	0.58369|0.58369	0.313000|0.313000	0.20887|0.20887	GCC|CGC		0.672	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	0	NM_006598		5:1074737
FOXF1	2294	broad.mit.edu	37	16	86544569	86544569	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:86544569T>C	ENST00000262426.4	+	1	437	c.394T>C	c.(394-396)Ttc>Ctc	p.F132L	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	132					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGAGTTCATGTTCGAGGAGGG	0.632																																						ENST00000262426.4		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(394-396)Ttc>Ctc		forkhead box F1							64.0	79.0	74.0					16																	86544569		2197	4298	6495	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544569T>C	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.394T>C	16.37:g.86544569T>C	ENSP00000262426:p.Phe132Leu	False	False		Somatic	0					p.F132L	NM_001451.2	NP_001442.2	WXS	Illumina HiSeq	Phase_I	Q12946	FOXF1_HUMAN			1	437	+			132					B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.394T>C	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	T	28.1	4.887395	0.91814	.	.	ENSG00000103241	ENST00000262426	T	0.36340	1.26	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	L	0.45285	1.41	0.80722	D	1	D	0.55605	0.972	D	0.66716	0.946	T	0.52563	-0.8559	10	0.87932	D	0	.	12.9875	0.58599	0.0:0.0:0.0:1.0	.	132	Q12946	FOXF1_HUMAN	L	132	ENSP00000262426:F132L	ENSP00000262426:F132L	F	+	1	0	FOXF1	85102070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.653000	0.83643	1.668000	0.50843	0.528000	0.53228	TTC		0.632	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	0	NM_001451		16:86544569
C3	718	broad.mit.edu	37	19	6694601	6694601	+	Missense_Mutation	SNP	G	G	A	rs370052728		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:6694601G>A	ENST00000245907.6	-	24	3087	c.2995C>T	c.(2995-2997)Cgg>Tgg	p.R999W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	999					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGCTTCAGCCGTTCCGCGTCG	0.622																																						ENST00000245907.6		NA																	0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2995-2997)Cgg>Tgg		complement component 3							74.0	61.0	65.0					19																	6694601		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6694601G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2995C>T	19.37:g.6694601G>A	ENSP00000245907:p.Arg999Trp	False	False		Somatic	0					p.R999W	NM_000064.2	NP_000055.2	WXS	Illumina HiSeq	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	24	3087	-			999					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2995C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913948	0.52546	.	.	ENSG00000125730	ENST00000245907	T	0.37584	1.19	5.67	4.61	0.57282	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.519800	0.21650	N	0.071200	T	0.32704	0.0838	N	0.08118	0	0.20926	N	0.999829	D	0.76494	0.999	P	0.58620	0.842	T	0.13683	-1.0500	10	0.72032	D	0.01	.	10.8984	0.47036	0.0:0.0:0.6435:0.3565	.	999	P01024	CO3_HUMAN	W	999	ENSP00000245907:R999W	ENSP00000245907:R999W	R	-	1	2	C3	6645601	0.290000	0.24343	0.988000	0.46212	0.150000	0.21749	1.655000	0.37345	2.693000	0.91896	0.650000	0.86243	CGG		0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	0	NM_000064		19:6694601
OPCML	4978	broad.mit.edu	37	11	132307148	132307148	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:132307148G>A	ENST00000331898.7	-	4	1210	c.632C>T	c.(631-633)cCc>cTc	p.P211L	OPCML_ENST00000374778.4_Missense_Mutation_p.P170L|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.P204L|OPCML_ENST00000541867.1_Missense_Mutation_p.P211L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	211	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CCGCACATCGGGCGCAGCGAC	0.542																																						ENST00000331898.7		NA																	0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(631-633)cCc>cTc		opioid binding protein/cell adhesion molecule-like							129.0	114.0	119.0					11																	132307148		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307148G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.632C>T	11.37:g.132307148G>A	ENSP00000330862:p.Pro211Leu	True	False		Somatic	0				OPCML_ENST00000541867.1_Missense_Mutation_p.P211L|OPCML_ENST00000524381.1_Missense_Mutation_p.P204L|OPCML_ENST00000374778.4_Missense_Mutation_p.P170L|OPCML_ENST00000529038.1_5'UTR	p.P211L	NM_002545.3	NP_002536.1	WXS	Illumina HiSeq	Phase_I	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	1210	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	211			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.632C>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825927	0.71143	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.59224	0.29;0.28;1.19;1.19	5.95	5.95	0.96441	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.997	T	0.78640	-0.2125	10	0.87932	D	0	-13.4278	19.9958	0.97383	0.0:0.0:1.0:0.0	.	211;204;210;211	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	L	211;204;170;178;211	ENSP00000330862:P211L;ENSP00000434750:P204L;ENSP00000363910:P170L;ENSP00000445496:P211L	ENSP00000330862:P211L	P	-	2	0	OPCML	131812358	1.000000	0.71417	0.320000	0.25306	0.040000	0.13550	9.476000	0.97823	2.825000	0.97269	0.655000	0.94253	CCC		0.542	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	0	NM_001012393		11:132307148
XIST	7503	broad.mit.edu	37	X	73062286	73062286	+	lincRNA	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:73062286C>A	ENST00000429829.1	-	0	10302					NR_001564.2				X inactive specific transcript (non-protein coding)																		AAGAATGGTTCTTGTCCCCAG	0.408																																						ENST00000429829.1		NA																	0					NA															18.0	17.0	17.0					X																	73062286		874	1986	2860			0							g.chrX:73062286C>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73062286C>A		False	False		Somatic	0						NR_001564.2		WXS	Illumina HiSeq	Phase_I					0	10302	-			NA						RNA	SNP	ENST00000429829.1	37																																																																																						0.408	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	0	NR_001564		X:73062286
ASNSD1	54529	broad.mit.edu	37	2	190535201	190535201	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:190535201C>T	ENST00000260952.4	+	6	2094	c.1681C>T	c.(1681-1683)Cta>Tta	p.L561L	ASNSD1_ENST00000607062.1_Silent_p.L80L	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	561	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTCTCCTTTCTAAATTCTCT	0.353																																						ENST00000260952.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(1681-1683)Cta>Tta		asparagine synthetase domain containing 1							69.0	72.0	71.0					2																	190535201		2203	4300	6503	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190535201C>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1681C>T	2.37:g.190535201C>T		True	False		Somatic	0				ASNSD1_ENST00000607062.1_Silent_p.L80L	p.L561L	NM_019048.2	NP_061921	WXS	Illumina HiSeq	Phase_I	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		6	2094	+			561			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.1681C>T	CCDS2300.1																																																																																				0.353	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	0	NM_019048		2:190535201
ZNF536	9745	broad.mit.edu	37	19	31038886	31038886	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:31038886C>T	ENST00000355537.3	+	4	2507	c.2360C>T	c.(2359-2361)gCc>gTc	p.A787V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	787					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.A787D(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGACTATGCCGGCACGCAG	0.512																																						ENST00000355537.3		NA																	1	Substitution - Missense(1)	p.A787D(1)	lung(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2359-2361)gCc>gTc		zinc finger protein 536							65.0	68.0	67.0					19																	31038886		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31038886C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2360C>T	19.37:g.31038886C>T	ENSP00000347730:p.Ala787Val	False	False		Somatic	0					p.A787V	NM_014717.1	NP_055532.1	WXS	Illumina HiSeq	Phase_I	O15090	ZN536_HUMAN			4	2507	+	Esophageal squamous(110;0.0834)		787					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2360C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372690	0.82573	.	.	ENSG00000198597	ENST00000355537	T	0.13778	2.56	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	N	0.25332	0.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.01218	-1.1415	10	0.72032	D	0.01	-31.1218	20.6721	0.99693	0.0:1.0:0.0:0.0	.	787;787	A7E228;O15090	.;ZN536_HUMAN	V	787	ENSP00000347730:A787V	ENSP00000347730:A787V	A	+	2	0	ZNF536	35730726	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.481000	0.81124	2.894000	0.99253	0.591000	0.81541	GCC		0.512	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	0	NM_014717		19:31038886
MYH4	4622	broad.mit.edu	37	17	10352050	10352050	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:10352050C>A	ENST00000255381.2	-	32	4526	c.4416G>T	c.(4414-4416)gaG>gaT	p.E1472D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1472					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGGAGGCCTCAAGTTCAG	0.448																																						ENST00000255381.2		NA																	0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4414-4416)gaG>gaT		myosin, heavy chain 4, skeletal muscle							86.0	87.0	87.0					17																	10352050		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352050C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4416G>T	17.37:g.10352050C>A	ENSP00000255381:p.Glu1472Asp	False	False		Somatic	0				RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.E1472D	NM_017533.2	NP_060003.2	WXS	Illumina HiSeq	Phase_I	Q9Y623	MYH4_HUMAN			32	4526	-			1472						Missense_Mutation	SNP	ENST00000255381.2	37	c.4416G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545239	0.45280	.	.	ENSG00000141048	ENST00000255381	T	0.77229	-1.08	4.97	0.598	0.17512	Myosin tail (1);	0.000000	0.37577	U	0.002040	T	0.66819	0.2828	L	0.35249	1.045	0.38463	D	0.947264	B	0.28760	0.221	B	0.37015	0.239	T	0.56625	-0.7948	10	0.23302	T	0.38	.	9.7593	0.40522	0.0:0.6205:0.0:0.3795	.	1472	Q9Y623	MYH4_HUMAN	D	1472	ENSP00000255381:E1472D	ENSP00000255381:E1472D	E	-	3	2	MYH4	10292775	0.001000	0.12720	0.997000	0.53966	0.973000	0.67179	-1.559000	0.02162	0.222000	0.20900	0.561000	0.74099	GAG		0.448	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	0	NM_017533		17:10352050
SYMPK	8189	broad.mit.edu	37	19	46357673	46357673	+	Silent	SNP	G	G	A	rs374626694		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:46357673G>A	ENST00000245934.7	-	2	325	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	27	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCATGCCATCGATGCCCGGCC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20064	0.0		0.0	False		,,,				2504	0.001					ENST00000245934.7		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(79-81)atC>atT		symplekin		G		0,4284		0,0,2142	62.0	65.0	64.0		81	-8.7	0.8	19		64	1,8475		0,1,4237	no	coding-synonymous	SYMPK	NM_004819.2		0,1,6379	AA,AG,GG		0.0118,0.0,0.0078		27/1275	46357673	1,12759	2142	4238	6380	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46357673G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.81C>T	19.37:g.46357673G>A		False	False		Somatic	0					p.I27I	NM_004819.2	NP_004810.2	WXS	Illumina HiSeq	Phase_I	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	2	325	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	27			Interaction with HSF1.		O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.81C>T	CCDS12676.2																																																																																				0.617	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	0	NM_004819		19:46357673
ATP5O	539	broad.mit.edu	37	21	35281465	35281465	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr21:35281465C>T	ENST00000290299.2	-	4	465	c.249G>A	c.(247-249)gtG>gtA	p.V83V	AP000304.12_ENST00000429238.1_Missense_Mutation_p.E32K	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	83					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						TGGAACGCTTCACATAGGGAT	0.368																																						ENST00000429238.1		NA																	0					NA						c.(94-96)Gaa>Aaa									99.0	89.0	93.0					21																	35281465		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr21:35281465C>T	AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	850	protein-coding gene	gene with protein product	"""oligomycin sensitivity conferring protein"""	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.249G>A	21.37:g.35281465C>T		False	False		Somatic	0				ATP5O_ENST00000290299.2_Silent_p.V83V	p.E32K			WXS	Illumina HiSeq	Phase_I					2	93	-			NA					B2R4E2|Q5U042|Q6IBI2	Missense_Mutation	SNP	ENST00000290299.2	37	c.94G>A	CCDS13634.1	.	.	.	.	.	.	.	.	.	.	C	7.061	0.566329	0.13560	.	.	ENSG00000249209	ENST00000429238	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.29976	0.0750	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39165	-0.9627	4	.	.	.	-28.5225	0.4541	0.00506	0.2592:0.2488:0.266:0.226	.	.	.	.	K	32	.	.	E	-	1	0	AP000304.12	34203335	0.001000	0.12720	0.002000	0.10522	0.717000	0.41224	-1.870000	0.01641	-2.262000	0.00690	-0.188000	0.12872	GAA		0.368	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139907.1	0	NM_001697		21:35281465
ANKRD11	29123	broad.mit.edu	37	16	89350085	89350085	+	Silent	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:89350085C>A	ENST00000301030.4	-	9	3325	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L	ANKRD11_ENST00000378330.2_Silent_p.L955L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	955	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCAGCTCTCCAGGGCGTCCT	0.612																																						ENST00000301030.4		NA																	0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2863-2865)ctG>ctT		ankyrin repeat domain 11							79.0	86.0	83.0					16																	89350085		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89350085C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2865G>T	16.37:g.89350085C>A		False	False		Somatic	0				ANKRD11_ENST00000378330.2_Silent_p.L955L	p.L955L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	WXS	Illumina HiSeq	Phase_I	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3325	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	955			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.2865G>T	CCDS32513.1																																																																																				0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	0	NM_013275		16:89350085
ATP6V1H	51606	broad.mit.edu	37	8	54684564	54684564	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:54684564C>T	ENST00000359530.2	-	10	1297	c.1034G>A	c.(1033-1035)aGt>aAt	p.S345N	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.S345N|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.S305N|ATP6V1H_ENST00000355221.3_Missense_Mutation_p.S327N|ATP6V1H_ENST00000523899.1_5'Flank	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	345					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GTCCTGGACACTCTCTCCAAG	0.373																																						ENST00000355221.3		NA																	0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18						c.(979-981)aGt>aAt		ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H							128.0	120.0	123.0					8																	54684564		2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54684564C>T	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1034G>A	8.37:g.54684564C>T	ENSP00000352522:p.Ser345Asn	True	False		Somatic	0				ATP6V1H_ENST00000396774.2_Missense_Mutation_p.S345N|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.S305N|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.S345N	p.S327N	NM_213619.2	NP_998784.1	WXS	Illumina HiSeq	Phase_I	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		9	1539	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	345					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.980G>A	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835276	0.71373	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.46567	1.45	0.80722	D	1	P;P	0.40360	0.68;0.714	P;B	0.44946	0.465;0.414	T	0.50800	-0.8785	9	0.15952	T	0.53	-20.9211	19.3551	0.94408	0.0:1.0:0.0:0.0	.	327;345	Q9UI12-2;Q9UI12	.;VATH_HUMAN	N	327;305;345;345	.	ENSP00000347359:S327N	S	-	2	0	ATP6V1H	54847117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.639000	0.89480	0.609000	0.83330	AGT		0.373	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	0	NM_015941		8:54684564
GRM8	2918	broad.mit.edu	37	7	126173853	126173853	+	Missense_Mutation	SNP	G	G	A	rs537365104		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:126173853G>A	ENST00000339582.2	-	9	2391	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	GRM8_ENST00000444921.2_Missense_Mutation_p.T528M|GRM8_ENST00000358373.3_Missense_Mutation_p.T528M|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	528					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCTTTCACCGTTTTCTTCCT	0.542										HNSCC(24;0.065)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18363	0.0		0.0	False		,,,				2504	0.001					ENST00000339582.2		NA																	0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1582-1584)aCg>aTg		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						85.0	85.0	85.0					7																	126173853		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173853G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1583C>T	7.37:g.126173853G>A	ENSP00000344173:p.Thr528Met	True	False	HNSCC(24;0.065)	Somatic	0				GRM8_ENST00000444921.2_Missense_Mutation_p.T528M|GRM8_ENST00000358373.3_Missense_Mutation_p.T528M|GRM8_ENST00000480995.1_Intron	p.T528M			WXS	Illumina HiSeq	Phase_I	O00222	GRM8_HUMAN			9	2391	-		Prostate(267;0.186)	528					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1583C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	1.717	-0.497514	0.04291	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89617	-2.54;-2.54;-2.54	5.8	4.92	0.64577	GPCR, family 3, nine cysteines domain (1);	0.100013	0.64402	D	0.000001	T	0.74261	0.3693	N	0.03999	-0.3	0.80722	D	1	B;B	0.16166	0.013;0.016	B;B	0.22880	0.002;0.042	T	0.69075	-0.5241	10	0.02654	T	1	.	14.0626	0.64808	0.0721:0.0:0.9279:0.0	.	528;528	O00222-2;O00222	.;GRM8_HUMAN	M	528	ENSP00000344173:T528M;ENSP00000409790:T528M;ENSP00000351142:T528M	ENSP00000344173:T528M	T	-	2	0	GRM8	125961089	0.754000	0.28360	0.709000	0.30452	0.984000	0.73092	1.180000	0.32005	1.468000	0.48064	0.643000	0.83706	ACG		0.542	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4	0			7:126173853
TTN	7273	broad.mit.edu	37	2	179455476	179455476	+	Missense_Mutation	SNP	C	C	T	rs370995867		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:179455476C>T	ENST00000591111.1	-	254	56277	c.56053G>A	c.(56053-56055)Gct>Act	p.A18685T	TTN_ENST00000359218.5_Missense_Mutation_p.A11386T|TTN_ENST00000460472.2_Missense_Mutation_p.A11261T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11453T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A20326T|TTN_ENST00000342992.6_Missense_Mutation_p.A17758T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18685	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTCAGGTCAGCGATAGGTGTT	0.443																																						ENST00000589042.1		NA																	0				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						c.(60976-60978)Gct>Act		titin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,3812		0,0,1906	138.0	132.0	134.0		34357,34156,53272,33781	0.8	0.0	2		134	1,8267		0,1,4133	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	58,58,58,58	0,1,6039	TT,TC,CC		0.0121,0.0,0.0083	benign,benign,benign,benign	11453/27119,11386/27052,17758/33424,11261/26927	179455476	1,12079	1906	4134	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455476C>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.56053G>A	2.37:g.179455476C>T	ENSP00000465570:p.Ala18685Thr	False	False		Somatic	0				TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17758T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11261T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18685T|TTN_ENST00000342175.6_Missense_Mutation_p.A11453T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11386T|TTN-AS1_ENST00000590932.1_RNA	p.A20326T	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61200	-			18685			Fibronectin type-III 47.		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.60976G>A		.	.	.	.	.	.	.	.	.	.	C	6.198	0.404659	0.11754	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.11	0.782	0.18567	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35158	0.0922	N	0.13352	0.335	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.28396	-1.0045	9	0.87932	D	0	.	11.1443	0.48422	0.0:0.2701:0.5822:0.1477	.	11261;11386;11453;18685	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17758;11261;11453;11386;11259	ENSP00000343764:A17758T;ENSP00000434586:A11261T;ENSP00000340554:A11453T;ENSP00000352154:A11386T	ENSP00000340554:A11453T	A	-	1	0	TTN	179163722	0.086000	0.21541	0.001000	0.08648	0.796000	0.44982	0.327000	0.19663	-0.131000	0.11578	0.655000	0.94253	GCT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179455476
PYHIN1	149628	broad.mit.edu	37	1	158914733	158914733	+	Silent	SNP	G	G	A	rs150828296	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:158914733G>A	ENST00000368140.1	+	7	1505	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	PYHIN1_ENST00000392254.2_Silent_p.Q420Q|PYHIN1_ENST00000368138.3_Silent_p.Q411Q|PYHIN1_ENST00000392252.3_Silent_p.Q411Q|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	420					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACAGAGTCAGCATCCAAAAC	0.458																																						ENST00000368140.1		NA																	0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1258-1260)caG>caA		pyrin and HIN domain family, member 1							120.0	114.0	116.0					1																	158914733		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158914733G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1260G>A	1.37:g.158914733G>A		False	False		Somatic	0				PYHIN1_ENST00000392252.3_Silent_p.Q411Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.Q411Q|PYHIN1_ENST00000392254.2_Silent_p.Q420Q	p.Q420Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	WXS	Illumina HiSeq	Phase_I	Q6K0P9	IFIX_HUMAN			7	1505	+	all_hematologic(112;0.0378)		420					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.1260G>A	CCDS1178.1																																																																																				0.458	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	0	NM_152501		1:158914733
CFAP61	26074	broad.mit.edu	37	20	20056245	20056245	+	Silent	SNP	C	C	T	rs116838168	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:20056245C>T	ENST00000245957.5	+	6	628	c.552C>T	c.(550-552)caC>caT	p.H184H	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Silent_p.H184H|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Silent_p.H184H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		184										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCAGCTGCACGTTCGCAAAG	0.478													C|||	16	0.00319489	0.0121	0.0	5008	,	,		19569	0.0		0.0	False		,,,				2504	0.0					ENST00000245957.5		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(550-552)caC>caT		chromosome 20 open reading frame 26		C	,	18,4388	28.1+/-56.4	0,18,2185	140.0	129.0	133.0		552,552	-0.5	0.1	20	dbSNP_132	133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C20orf26	NM_001167816.1,NM_015585.3	,	0,18,6485	TT,TC,CC		0.0,0.4085,0.1384	,	184/471,184/1238	20056245	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20056245C>T																												ENST00000245957.5:c.552C>T	20.37:g.20056245C>T		False	False		Somatic	0				C20orf26_ENST00000377306.1_Silent_p.H184H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Silent_p.H184H	p.H184H	NM_015585.3	NP_056400.3	WXS	Illumina HiSeq	Phase_I	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	6	628	+			184					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.552C>T	CCDS33447.1																																																																																				0.478	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3	0			20:20056245
ARFGAP1	55738	broad.mit.edu	37	20	61906986	61906986	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:61906986G>T	ENST00000370283.4	+	2	194	c.54G>T	c.(52-54)gaG>gaT	p.E18D	ARFGAP1_ENST00000547204.1_5'UTR|NKAIN4_ENST00000370307.2_5'Flank|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E18D|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.R2I|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.E18D	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	18	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TGCAGGATGAGAACAACGTAA	0.517																																						ENST00000370275.4		NA																	0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(52-54)gaG>gaT		ADP-ribosylation factor GTPase activating protein 1							56.0	54.0	54.0					20																	61906986		2202	4299	6501	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61906986G>T	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.54G>T	20.37:g.61906986G>T	ENSP00000359306:p.Glu18Asp	False	False		Somatic	0				ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E18D|ARFGAP1_ENST00000547204.1_5'UTR|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.R2I|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E18D	p.E18D	NM_001281482.1	NP_001268411.1	WXS	Illumina HiSeq	Phase_I	Q8N6T3	ARFG1_HUMAN			2	146	+	all_cancers(38;1.59e-09)		18			Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.54G>T	CCDS13515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.379|2.379	-0.342631|-0.342631	0.05243|0.05243	.|.	.|.	ENSG00000101199|ENSG00000101199	ENST00000370283;ENST00000523114;ENST00000370275;ENST00000353546;ENST00000522403;ENST00000550188|ENST00000519604	T;T;T;T;T;T|T	0.46819|0.46063	0.86;0.86;0.86;0.86;0.86;0.86|0.88	4.78|4.78	0.0115|0.0115	0.14087|0.14087	.|.	0.057039|.	0.64402|.	N|.	0.000002|.	T|T	0.34890|0.34890	0.0913|0.0913	N|N	0.16862|0.16862	0.45|0.45	0.80722|0.80722	D|D	1|1	B;B;B|B	0.10296|0.29955	0.003;0.0;0.0|0.263	B;B;B|P	0.17098|0.46208	0.017;0.009;0.005|0.507	T|T	0.32534|0.32534	-0.9903|-0.9903	10|9	0.21014|0.87932	T|D	0.42|0	-0.3684|-0.3684	5.8773|5.8773	0.18836|0.18836	0.328:0.1544:0.5176:0.0|0.328:0.1544:0.5176:0.0	.|.	18;18;18|2	B7ZBI2;Q8N6T3;Q8N6T3-2|E7EV62	.;ARFG1_HUMAN;.|.	D|I	18|2	ENSP00000359306:E18D;ENSP00000428355:E18D;ENSP00000359298:E18D;ENSP00000314615:E18D;ENSP00000430929:E18D;ENSP00000449515:E18D|ENSP00000430500:R2I	ENSP00000314615:E18D|ENSP00000430500:R2I	E|R	+|+	3|2	2|0	ARFGAP1|ARFGAP1	61377431|61377431	0.998000|0.998000	0.40836|0.40836	0.900000|0.900000	0.35374|0.35374	0.053000|0.053000	0.15095|0.15095	0.412000|0.412000	0.21131|0.21131	-0.161000|-0.161000	0.10983|0.10983	-0.379000|-0.379000	0.06801|0.06801	GAG|AGA		0.517	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	0	NM_018209		20:61906986
CFAP54	144535	broad.mit.edu	37	12	97112291	97112291	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:97112291C>T	ENST00000524981.4	+	49	6818	c.6795C>T	c.(6793-6795)agC>agT	p.S2265S				Q96N23	CL055_HUMAN		0																	TCACTCTTAGCATGCTAAAGG	0.343																																						ENST00000524981.4		NA																	0					NA						c.(6793-6795)agC>agT		chromosome 12 open reading frame 55							60.0	62.0	62.0					12																	97112291		2201	4298	6499	SO:0001819	synonymous_variant	144535							g.chr12:97112291C>T																												ENST00000524981.4:c.6795C>T	12.37:g.97112291C>T		False	False		Somatic	0					p.S2265S			WXS	Illumina HiSeq	Phase_I					49	6818	+			NA						Silent	SNP	ENST00000524981.4	37	c.6795C>T																																																																																					0.343	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4	0			12:97112291
SPESP1	246777	broad.mit.edu	37	15	69238112	69238112	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:69238112A>G	ENST00000310673.3	+	2	393	c.239A>G	c.(238-240)cAt>cGt	p.H80R	NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	80					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTAGTTACACATGGAGACGCT	0.403																																						ENST00000310673.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(238-240)cAt>cGt		sperm equatorial segment protein 1							103.0	104.0	104.0					15																	69238112		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238112A>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.239A>G	15.37:g.69238112A>G	ENSP00000312284:p.His80Arg	False	False		Somatic	0				NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron	p.H80R	NM_145658.3	NP_663633.1	WXS	Illumina HiSeq	Phase_I	Q6UW49	SPESP_HUMAN			2	393	+			80					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.239A>G	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	A	1.739	-0.492198	0.04322	.	.	ENSG00000258484	ENST00000310673	T	0.20738	2.05	4.62	-1.08	0.09936	.	0.742875	0.11558	N	0.552026	T	0.14614	0.0353	L	0.32530	0.975	0.09310	N	1	B	0.32160	0.358	B	0.33521	0.165	T	0.25779	-1.0122	10	0.41790	T	0.15	-0.9374	7.6284	0.28226	0.3289:0.5445:0.0:0.1265	.	80	Q6UW49	SPESP_HUMAN	R	80	ENSP00000312284:H80R	ENSP00000312284:H80R	H	+	2	0	SPESP1	67025166	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.104000	0.15313	-0.050000	0.13356	-0.313000	0.08912	CAT		0.403	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	0	NM_145658		15:69238112
SIGLEC1	6614	broad.mit.edu	37	20	3687258	3687258	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:3687258C>T	ENST00000344754.4	-	2	144	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V49M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	49	Ig-like V-type.				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						GGCACCTCCACGTCGGCAGGG	0.672																																						ENST00000344754.4		NA																	0				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						c.(145-147)Gtg>Atg		sialic acid binding Ig-like lectin 1, sialoadhesin							23.0	18.0	20.0					20																	3687258		2202	4299	6501	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3687258C>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.145G>A	20.37:g.3687258C>T	ENSP00000341141:p.Val49Met	False	False		Somatic	0				SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V49M	p.V49M	NM_023068.3	NP_075556.1	WXS	Illumina HiSeq	Phase_I	Q9BZZ2	SN_HUMAN			2	144	-			49			Ig-like V-type.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.145G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926139	0.52759	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.22336	1.96;1.96	5.01	1.48	0.22813	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.207799	0.24185	N	0.040780	T	0.36908	0.0984	M	0.70595	2.14	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.09207	-1.0685	10	0.62326	D	0.03	.	3.7683	0.08632	0.0:0.5395:0.1965:0.2641	.	49;49	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	M	49	ENSP00000341141:V49M;ENSP00000202578:V49M	ENSP00000202578:V49M	V	-	1	0	SIGLEC1	3635258	0.133000	0.22466	0.002000	0.10522	0.058000	0.15608	0.940000	0.28992	0.416000	0.25844	0.563000	0.77884	GTG		0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	0	NM_023068		20:3687258
SGIP1	84251	broad.mit.edu	37	1	67147855	67147855	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:67147855C>T	ENST00000371037.4	+	15	1195	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P377L|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	373	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTACTATCGCCGCTCAATTTA	0.542																																						ENST00000371037.4		NA																	0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1117-1119)cCg>cTg		SH3-domain GRB2-like (endophilin) interacting protein 1							78.0	96.0	90.0					1																	67147855		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147855C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1118C>T	1.37:g.67147855C>T	ENSP00000360076:p.Pro373Leu	False	False		Somatic	0				SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P377L|SGIP1_ENST00000371035.3_Intron	p.P373L	NM_032291.2	NP_115667.2	WXS	Illumina HiSeq	Phase_I	Q9BQI5	SGIP1_HUMAN			15	1195	+			373			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1118C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068566	0.76301	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03152	4.03;4.03	5.19	4.26	0.50523	.	0.113033	0.64402	D	0.000010	T	0.07369	0.0186	L	0.47716	1.5	0.80722	D	1	D;B	0.89917	1.0;0.014	D;B	0.79108	0.992;0.005	T	0.13229	-1.0517	10	0.52906	T	0.07	-9.3174	13.4763	0.61310	0.0:0.9243:0.0:0.0757	.	376;373	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	L	377;376;376;373	ENSP00000237247:P377L;ENSP00000360076:P373L	ENSP00000237247:P377L	P	+	2	0	SGIP1	66920443	0.996000	0.38824	1.000000	0.80357	0.965000	0.64279	4.809000	0.62591	2.570000	0.86706	0.455000	0.32223	CCG		0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	0	NM_032291		1:67147855
MT-CYB	4519	broad.mit.edu	37	M	15615	15615	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrM:15615G>A	ENST00000361789.2	+	1	869	c.869G>A	c.(868-870)gGc>gAc	p.G290D	MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	290			G -> D (in exercise intolerance). {ECO:0000269|PubMed:8910895}.		cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CAAACTAGGAGGCGTCCTTGC	0.463											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2		NA																	0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(868-870)gGc>gAc		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:15615G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.869G>A	M.37:g.15615G>A	ENSP00000354554:p.Gly290Asp	False	False		Somatic	0	OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.G290D			WXS	Illumina HiSeq	Phase_I					1	869	+			NA					Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.869G>A																																																																																					0.463	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	YP_003024038		MT:15615
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:25380276T>C	ENST00000256078.4	-	3	245	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	141	Substitution - Missense(141)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)cAa>cGa		Kirsten rat sarcoma viral oncogene homolog							109.0	97.0	101.0					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380276T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.182A>G	12.37:g.25380276T>C	ENSP00000256078:p.Gln61Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron	p.Q61R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	373	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.182A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25380276
SLC9C1	285335	broad.mit.edu	37	3	112005603	112005603	+	Silent	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:112005603A>G	ENST00000305815.5	-	2	288	c.36T>C	c.(34-36)acT>acC	p.T12T	SLC9C1_ENST00000487372.1_Silent_p.T12T|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	12					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGAGGTCCTCAGTACTGAAAA	0.353																																						ENST00000305815.5		NA																	0					NA						c.(34-36)acT>acC		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							64.0	64.0	64.0					3																	112005603		2203	4298	6501	SO:0001819	synonymous_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:112005603A>G	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.36T>C	3.37:g.112005603A>G		False	False		Somatic	0				SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Silent_p.T12T	p.T12T	NM_183061.1	NP_898884.1	WXS	Illumina HiSeq	Phase_I	Q4G0N8	S9A10_HUMAN			2	288	-			12					Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	c.36T>C	CCDS33817.1																																																																																				0.353	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	0	NM_183061		3:112005603
TMX3	54495	broad.mit.edu	37	18	66377374	66377374	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:66377374G>A	ENST00000299608.2	-	4	465	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TMX3_ENST00000562706.1_Missense_Mutation_p.A50V|TMX3_ENST00000443099.2_Missense_Mutation_p.A50V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	50	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACCATGGCGCATAAAACTT	0.323																																						ENST00000299608.2		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(148-150)gCg>gTg		thioredoxin-related transmembrane protein 3							55.0	49.0	51.0					18																	66377374		2203	4300	6503	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66377374G>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.149C>T	18.37:g.66377374G>A	ENSP00000299608:p.Ala50Val	False	False		Somatic	0				TMX3_ENST00000443099.2_Missense_Mutation_p.A50V|TMX3_ENST00000562706.1_Missense_Mutation_p.A50V	p.A50V	NM_019022.3	NP_061895.3	WXS	Illumina HiSeq	Phase_I	Q96JJ7	TMX3_HUMAN			4	465	-			50			Thioredoxin.		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.149C>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916459	0.92249	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T;T	0.10192	2.9;2.9;2.9	5.57	5.57	0.84162	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61352	-0.7080	10	0.87932	D	0	.	18.1057	0.89519	0.0:0.0:1.0:0.0	.	50;50;50	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	V	50	ENSP00000299608:A50V;ENSP00000444954:A50V;ENSP00000402605:A50V	ENSP00000299608:A50V	A	-	2	0	TMX3	64528354	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.738000	0.98835	2.619000	0.88677	0.563000	0.77884	GCG		0.323	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	0	NM_019022		18:66377374
AHNAK2	113146	broad.mit.edu	37	14	105413912	105413912	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105413912C>T	ENST00000333244.5	-	7	7995	c.7876G>A	c.(7876-7878)Gat>Aat	p.D2626N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2626						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGCGCACCATCCAGCTTTGCT	0.592																																						ENST00000333244.5		NA																	0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7876-7878)Gat>Aat		AHNAK nucleoprotein 2							165.0	179.0	174.0					14																	105413912		1916	4110	6026	SO:0001583	missense	113146					nucleus		g.chr14:105413912C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7876G>A	14.37:g.105413912C>T	ENSP00000353114:p.Asp2626Asn	False	False		Somatic	0				AHNAK2_ENST00000557457.1_Intron	p.D2626N	NM_138420.2	NP_612429.2	WXS	Illumina HiSeq	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7995	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2626					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7876G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.120665	0.37436	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	2.6	2.6	0.31112	.	.	.	.	.	T	0.02156	0.0067	M	0.70903	2.155	0.09310	N	1	P	0.40834	0.73	B	0.34385	0.181	T	0.42582	-0.9443	9	0.21540	T	0.41	.	4.3944	0.11356	0.0:0.7139:0.0:0.2861	.	2626	Q8IVF2	AHNK2_HUMAN	N	2626	ENSP00000353114:D2626N	ENSP00000353114:D2626N	D	-	1	0	AHNAK2	104484957	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.581000	0.05820	1.000000	0.39049	0.306000	0.20318	GAT		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	NM_138420		14:105413912
PCDHGB3	56102	broad.mit.edu	37	5	140751953	140751953	+	Silent	SNP	C	C	T	rs376952769		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140751953C>T	ENST00000576222.1	+	1	2123	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	664	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCAGATAGCT	0.607																																						ENST00000576222.1		NA																	0				endometrium(1)|kidney(1)|lung(3)	5						c.(1990-1992)ttC>ttT				C	,,,,,,,,	0,4224		0,0,2112	67.0	73.0	71.0		,,,,,,,1992,1992	-1.0	0.5	5		71	1,8487		0,1,4243	no	intron,intron,intron,intron,intron,intron,intron,coding-synonymous,coding-synonymous	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,,	0,1,6355	TT,TC,CC		0.0118,0.0,0.0079	,,,,,,,,	,,,,,,,664/930,664/815	140751953	1,12711	2112	4244	6356	SO:0001819	synonymous_variant	0							g.chr5:140751953C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1992C>T	5.37:g.140751953C>T		False	False		Somatic	0				PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.F664F	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2123	+			NA					A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1992C>T	CCDS58980.1																																																																																				0.607	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	0	NM_018924		5:140751953
TMC5	79838	broad.mit.edu	37	16	19488791	19488791	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:19488791G>A	ENST00000396229.2	+	13	2869	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	TMC5_ENST00000381414.4_Missense_Mutation_p.G707D|TMC5_ENST00000541464.1_Missense_Mutation_p.G655D|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.G707D|TMC5_ENST00000219821.5_Missense_Mutation_p.G461D|TMC5_ENST00000561503.1_Missense_Mutation_p.G348D|TMC5_ENST00000564959.1_Missense_Mutation_p.G390D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	707					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAATCATTGGCATTCTTTGT	0.383																																						ENST00000396229.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2119-2121)gGc>gAc		transmembrane channel-like 5							247.0	228.0	234.0					16																	19488791		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19488791G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2120G>A	16.37:g.19488791G>A	ENSP00000379531:p.Gly707Asp	False	False		Somatic	0				TMC5_ENST00000541464.1_Missense_Mutation_p.G655D|TMC5_ENST00000542583.2_Missense_Mutation_p.G707D|TMC5_ENST00000219821.5_Missense_Mutation_p.G461D|TMC5_ENST00000561503.1_Missense_Mutation_p.G348D|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.G707D|TMC5_ENST00000564959.1_Missense_Mutation_p.G390D	p.G707D	NM_001105248.1	NP_001098718.1	WXS	Illumina HiSeq	Phase_I	Q6UXY8	TMC5_HUMAN			13	2869	+			707					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2120G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537353	0.65085	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.69561	-0.41;-0.03;-0.03;-0.03;-0.03	4.33	4.33	0.51752	.	0.193755	0.43579	D	0.000559	T	0.81781	0.4895	M	0.81802	2.56	0.51233	D	0.99991	D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.998;0.999;1.0	D;D;D;D;D;D	0.81914	0.992;0.954;0.982;0.94;0.981;0.995	T	0.82625	-0.0365	10	0.38643	T	0.18	-14.3434	16.7528	0.85490	0.0:0.0:1.0:0.0	.	655;390;461;461;707;707	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	D	655;707;707;707;461;390	ENSP00000441227:G655D;ENSP00000370822:G707D;ENSP00000379531:G707D;ENSP00000446274:G707D;ENSP00000219821:G461D	ENSP00000219821:G461D	G	+	2	0	TMC5	19396292	1.000000	0.71417	0.998000	0.56505	0.422000	0.31414	7.615000	0.83006	2.112000	0.64535	0.655000	0.94253	GGC		0.383	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	0	NM_024780		16:19488791
CTDSP1	58190	broad.mit.edu	37	2	219266400	219266400	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:219266400C>T	ENST00000273062.2	+	2	517	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P61S|RP11-378A13.2_ENST00000608367.1_RNA|MIR26B_ENST00000362251.2_RNA	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	61					negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCGGGGCGCCCCTGCTTGT	0.667																																						ENST00000273062.2		NA																	0				NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8						c.(181-183)Ccc>Tcc		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1							30.0	29.0	29.0					2																	219266400		2203	4300	6503	SO:0001583	missense	58190				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219266400C>T	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.181C>T	2.37:g.219266400C>T	ENSP00000273062:p.Pro61Ser	True	False		Somatic	0				CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P61S	p.P61S	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	WXS	Illumina HiSeq	Phase_I	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	517	+		Renal(207;0.0915)	61					C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	37	c.181C>T	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561410	0.65538	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	T;T	0.14144	2.53;2.55	5.08	4.19	0.49359	.	0.061117	0.64402	D	0.000003	T	0.19725	0.0474	M	0.74467	2.265	0.58432	D	0.999999	B;B	0.17852	0.024;0.024	B;B	0.26202	0.024;0.067	T	0.03060	-1.1077	10	0.44086	T	0.13	-16.6294	12.6141	0.56567	0.0:0.9192:0.0:0.0807	.	61;61	Q9GZU7;C9IYG0	CTDS1_HUMAN;.	S	61	ENSP00000392248:P61S;ENSP00000273062:P61S	ENSP00000273062:P61S	P	+	1	0	CTDSP1	218974644	0.543000	0.26434	0.924000	0.36721	0.734000	0.41952	3.105000	0.50314	2.362000	0.80069	0.655000	0.94253	CCC		0.667	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	0	NM_182642, NM_021198		2:219266400
DMRT2	10655	broad.mit.edu	37	9	1056510	1056510	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:1056510A>G	ENST00000358146.2	+	3	923	c.923A>G	c.(922-924)gAt>gGt	p.D308G	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.D308G|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.D308G			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	308					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ACCTGCCTTGATTTAACCATG	0.458																																						ENST00000382251.3		NA																	0				large_intestine(1)|lung(1)|prostate(2)	4						c.(922-924)gAt>gGt		doublesex and mab-3 related transcription factor 2							86.0	88.0	87.0					9																	1056510		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056510A>G	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.923A>G	9.37:g.1056510A>G	ENSP00000350865:p.Asp308Gly	True	False		Somatic	0				DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.D308G|DMRT2_ENST00000302441.6_Missense_Mutation_p.D308G|DMRT2_ENST00000382255.3_3'UTR	p.D308G			WXS	Illumina HiSeq	Phase_I	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1252	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	308					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.923A>G	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753973	0.69648	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.34275	1.37;1.37;1.37	5.62	5.62	0.85841	.	0.289079	0.38663	N	0.001609	T	0.57755	0.2075	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.965;0.984	T	0.61108	-0.7129	10	0.87932	D	0	-21.4324	15.5071	0.75748	1.0:0.0:0.0:0.0	.	308;152	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	G	308	ENSP00000371686:D308G;ENSP00000305785:D308G;ENSP00000350865:D308G	ENSP00000305785:D308G	D	+	2	0	DMRT2	1046510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.730000	0.91510	2.153000	0.67306	0.528000	0.53228	GAT		0.458	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	0	NM_006557		9:1056510
ACTG2	72	broad.mit.edu	37	2	74146664	74146664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:74146664G>T	ENST00000409624.1	+	10	1736	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	ACTG2_ENST00000345517.3_Nonsense_Mutation_p.E365*|ACTG2_ENST00000409731.3_Nonsense_Mutation_p.E322*			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	365					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TGAGTATGATGAGGCAGGGCC	0.532																																						ENST00000409624.1		NA																	0				large_intestine(3)|lung(14)|skin(1)	18						c.(1093-1095)Gag>Tag		actin, gamma 2, smooth muscle, enteric							77.0	75.0	76.0					2																	74146664		2203	4300	6503	SO:0001587	stop_gained	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74146664G>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1093G>T	2.37:g.74146664G>T	ENSP00000386857:p.Glu365*	False	False		Somatic	0				ACTG2_ENST00000409731.3_Nonsense_Mutation_p.E322*|ACTG2_ENST00000345517.3_Nonsense_Mutation_p.E365*	p.E365*			WXS	Illumina HiSeq	Phase_I	P63267	ACTH_HUMAN			10	1736	+			365					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Nonsense_Mutation	SNP	ENST00000409624.1	37	c.1093G>T	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	36	5.762352	0.96906	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	.	.	.	4.8	4.8	0.61643	.	0.502454	0.17436	N	0.174289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1435	0.86760	0.0:0.0:1.0:0.0	.	.	.	.	X	322;365;365	.	ENSP00000295137:E365X	E	+	1	0	ACTG2	74000172	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.601000	0.98297	2.651000	0.90000	0.591000	0.81541	GAG		0.532	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	0	NM_001615		2:74146664
DNAH11	8701	broad.mit.edu	37	7	21640427	21640427	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:21640427G>A	ENST00000409508.3	+	16	3165	c.3134G>A	c.(3133-3135)cGa>cAa	p.R1045Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R1045Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1045	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGATGATCGAGCTGAGTTT	0.448									Kartagener syndrome																													ENST00000328843.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3133-3135)cGa>cAa		dynein, axonemal, heavy chain 11							187.0	182.0	183.0					7																	21640427		1972	4152	6124	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640427G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3134G>A	7.37:g.21640427G>A	ENSP00000475939:p.Arg1045Gln	False	False		Somatic	0				DNAH11_ENST00000409508.3_Missense_Mutation_p.R1045Q	p.R1045Q			WXS	Illumina HiSeq	Phase_I	Q96DT5	DYH11_HUMAN			16	3165	+			1045			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3134G>A		.	.	.	.	.	.	.	.	.	.	G	19.10	3.762115	0.69763	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	5.23	5.23	0.72850	.	0.280795	0.30639	N	0.009182	T	0.35537	0.0935	.	.	.	0.46317	D	0.998987	D	0.76494	0.999	P	0.55615	0.78	T	0.02320	-1.1177	9	0.23891	T	0.37	.	13.1616	0.59547	0.0791:0.0:0.9209:0.0	.	1045	Q96DT5	DYH11_HUMAN	Q	1045	ENSP00000330671:R1045Q	ENSP00000330671:R1045Q	R	+	2	0	DNAH11	21606952	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	4.241000	0.58707	2.452000	0.82932	0.551000	0.68910	CGA		0.448	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	NM_003777		7:21640427
ACTRT1	139741	broad.mit.edu	37	X	127185417	127185417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:127185417G>A	ENST00000371124.3	-	1	965	c.769C>T	c.(769-771)Caa>Taa	p.Q257*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	257						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCGGGCACTTGGTACAGCTCA	0.542																																						ENST00000371124.3		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(769-771)Caa>Taa		actin-related protein T1							125.0	114.0	118.0					X																	127185417		2203	4300	6503	SO:0001587	stop_gained	139741					cytoplasm|cytoskeleton		g.chrX:127185417G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.769C>T	X.37:g.127185417G>A	ENSP00000360165:p.Gln257*	False	False		Somatic	0					p.Q257*	NM_138289.3	NP_612146.1	WXS	Illumina HiSeq	Phase_I	Q8TDG2	ACTT1_HUMAN			1	965	-			257					Q6X7C1|Q96L10	Nonsense_Mutation	SNP	ENST00000371124.3	37	c.769C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811660	0.50527	.	.	ENSG00000123165	ENST00000371124	.	.	.	3.58	0.589	0.17452	.	0.537891	0.16370	N	0.217347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.9033	0.41362	0.0:0.0:0.4788:0.5212	.	.	.	.	X	257	.	ENSP00000360165:Q257X	Q	-	1	0	ACTRT1	127013098	1.000000	0.71417	0.001000	0.08648	0.023000	0.10783	1.058000	0.30504	0.001000	0.14605	0.600000	0.82982	CAA		0.542	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	0	NM_138289		X:127185417
CHD8	57680	broad.mit.edu	37	14	21875121	21875121	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:21875121C>G	ENST00000557364.1	-	14	3064	c.2801G>C	c.(2800-2802)tGt>tCt	p.C934S	CHD8_ENST00000399982.2_Missense_Mutation_p.C934S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.C655S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	934	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGCTCAGGACAATCTGACAA	0.438																																						ENST00000399982.2		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(2800-2802)tGt>tCt		chromodomain helicase DNA binding protein 8							65.0	61.0	62.0					14																	21875121		1966	4149	6115	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21875121C>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2801G>C	14.37:g.21875121C>G	ENSP00000451601:p.Cys934Ser	False	False		Somatic	0				CHD8_ENST00000557364.1_Missense_Mutation_p.C934S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.C655S	p.C934S	NM_001170629.1	NP_001164100.1	WXS	Illumina HiSeq	Phase_I	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	13	2865	-	all_cancers(95;0.00121)		934			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2801G>C	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.542986|4.542986	0.86022|0.86022	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.93019|.	-3.15;-3.15;-3.15|.	5.41|5.41	5.41|5.41	0.78517|0.78517	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.34193|0.34193	0.0889|0.0889	N|N	0.02334|0.02334	-0.595|-0.595	0.80722|0.80722	D|D	1|1	B;P|.	0.36633|.	0.236;0.562|.	B;B|.	0.43950|.	0.345;0.437|.	T|T	0.30357|0.30357	-0.9981|-0.9981	10|5	0.27785|.	T|.	0.31|.	-17.6138|-17.6138	18.1343|18.1343	0.89612|0.89612	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	934;655|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	S|F	655;934;654;934|159	ENSP00000406288:C655S;ENSP00000382863:C934S;ENSP00000451601:C934S|.	ENSP00000262707:C654S|.	C|L	-|-	2|3	0|2	CHD8|CHD8	20944961|20944961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.932000|5.932000	0.70121|0.70121	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	TGT|TTG		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	0	NM_020920		14:21875121
MALT1	10892	broad.mit.edu	37	18	56401610	56401610	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:56401610C>T	ENST00000348428.3	+	12	1730	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.A480V	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	491	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTTGGATATGCCACGTAAGAA	0.403			T	BIRC3	MALT																																	ENST00000348428.3		NA		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(1471-1473)gCc>gTc		mucosa associated lymphoid tissue lymphoma translocation gene 1							133.0	114.0	120.0					18																	56401610		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56401610C>T		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1472C>T	18.37:g.56401610C>T	ENSP00000319279:p.Ala491Val	False	False		Somatic	0				RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.A480V	p.A491V	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	WXS	Illumina HiSeq	Phase_I	Q9UDY8	MALT1_HUMAN			12	1730	+			491			Caspase-like.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1472C>T	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609673	0.96637	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.56611	0.45;0.45	5.88	5.88	0.94601	Peptidase C14, caspase catalytic (1);	0.046173	0.85682	D	0.000000	T	0.78168	0.4241	M	0.88570	2.965	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	T	0.81450	-0.0927	10	0.87932	D	0	.	19.0095	0.92867	0.0:1.0:0.0:0.0	.	480;491	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	V	491;480	ENSP00000319279:A491V;ENSP00000304161:A480V	ENSP00000304161:A480V	A	+	2	0	MALT1	54552590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.779000	0.95612	0.650000	0.86243	GCC		0.403	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2	0			18:56401610
ACTL9	284382	broad.mit.edu	37	19	8807951	8807951	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:8807951G>C	ENST00000324436.3	-	1	1221	c.1101C>G	c.(1099-1101)caC>caG	p.H367Q		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	367						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCACCACCACGTGGGTCTCGG	0.677																																						ENST00000324436.3		NA																	0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(1099-1101)caC>caG		actin-like 9							25.0	28.0	27.0					19																	8807951		2203	4298	6501	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8807951G>C		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1101C>G	19.37:g.8807951G>C	ENSP00000316674:p.His367Gln	True	False		Somatic	0					p.H367Q	NM_178525.3	NP_848620.3	WXS	Illumina HiSeq	Phase_I	Q8TC94	ACTL9_HUMAN			1	1221	-			367					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.1101C>G	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	g	3.006	-0.204896	0.06180	.	.	ENSG00000181786	ENST00000324436	T	0.07444	3.19	4.51	2.29	0.28610	.	0.738936	0.11482	U	0.559628	T	0.05227	0.0139	N	0.17564	0.495	0.09310	N	1	B	0.12630	0.006	B	0.19148	0.024	T	0.38243	-0.9670	10	0.87932	D	0	.	3.6914	0.08347	0.088:0.316:0.4331:0.1629	.	367	Q8TC94	ACTL9_HUMAN	Q	367	ENSP00000316674:H367Q	ENSP00000316674:H367Q	H	-	3	2	ACTL9	8668951	0.001000	0.12720	0.084000	0.20598	0.088000	0.18126	0.676000	0.25247	0.604000	0.29930	-0.482000	0.04802	CAC		0.677	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	0	NM_178525		19:8807951
AMY2A	279	broad.mit.edu	37	1	104160198	104160198	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:104160198T>G	ENST00000414303.2	+	1	200	c.136T>G	c.(136-138)Tat>Gat	p.Y46D		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	46					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	ATGTGAGCGATATTTAGCTCC	0.423																																						ENST00000414303.2		NA																	0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)Tat>Gat		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						276.0	228.0	244.0					1																	104160198		2201	4279	6480	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160198T>G	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.136T>G	1.37:g.104160198T>G	ENSP00000397582:p.Tyr46Asp	False	False		Somatic	0					p.Y46D	NM_000699.2	NP_000690.1	WXS	Illumina HiSeq	Phase_I	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	1	200	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	46					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.136T>G	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	15.43|15.43	2.831461|2.831461	0.50845|0.50845	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|D	.|0.99663	.|-6.33	3.22|3.22	3.22|3.22	0.36961|0.36961	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.056220	.|0.64402	.|D	.|0.000001	D|D	0.99462|0.99462	0.9809|0.9809	M|M	0.82132|0.82132	2.575|2.575	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.97110	.|1.0;0.985	D|D	0.98570|0.98570	1.0645|1.0645	5|10	.|0.87932	.|D	.|0	.|.	11.6147|11.6147	0.51083|0.51083	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|46;46	.|B9EJG1;P04746	.|.;AMYP_HUMAN	R|D	44|46	.|ENSP00000397582:Y46D	.|ENSP00000377509:Y46D	I|Y	+|+	2|1	0|0	AMY2A|AMY2A	103961721|103961721	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.474000|0.474000	0.32979|0.32979	7.267000|7.267000	0.78462|0.78462	1.455000|1.455000	0.47813|0.47813	0.374000|0.374000	0.22700|0.22700	ATA|TAT		0.423	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	0	NM_000699		1:104160198
PLXNC1	10154	broad.mit.edu	37	12	94620456	94620456	+	Silent	SNP	C	C	T	rs139278274	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:94620456C>T	ENST00000258526.4	+	8	2115	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	622					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCACAGCTTGCGACCCTTCTG	0.483													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18832	0.0		0.0	False		,,,				2504	0.0					ENST00000258526.4		NA																	0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1864-1866)tgC>tgT		plexin C1		C		6,4400	12.9+/-30.5	0,6,2197	172.0	165.0	167.0		1866	-5.5	0.0	12	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	PLXNC1	NM_005761.2		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		622/1569	94620456	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94620456C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1866C>T	12.37:g.94620456C>T		False	False		Somatic	0					p.C622C	NM_005761.2	NP_005752.1	WXS	Illumina HiSeq	Phase_I	O60486	PLXC1_HUMAN			8	2115	+			622					Q59H25	Silent	SNP	ENST00000258526.4	37	c.1866C>T	CCDS9049.1																																																																																				0.483	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2	0			12:94620456
ZNF790	388536	broad.mit.edu	37	19	37310991	37310991	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:37310991C>A	ENST00000356725.4	-	5	375	c.255G>T	c.(253-255)aaG>aaT	p.K85N	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	85					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTAATAACTTCTTGGTCTGAC	0.323																																						ENST00000356725.4		NA																	0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(253-255)aaG>aaT		zinc finger protein 790							50.0	51.0	51.0					19																	37310991		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310991C>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.255G>T	19.37:g.37310991C>A	ENSP00000349161:p.Lys85Asn	False	False		Somatic	0				CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.K85N	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	WXS	Illumina HiSeq	Phase_I	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	375	-	Esophageal squamous(110;0.183)		85						Missense_Mutation	SNP	ENST00000356725.4	37	c.255G>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	8.442	0.851037	0.17034	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.07327	3.2;6.04;5.63	3.08	3.08	0.35506	.	.	.	.	.	T	0.09862	0.0242	L	0.50333	1.59	0.09310	N	1	P	0.41313	0.745	B	0.41202	0.35	T	0.16482	-1.0401	9	0.52906	T	0.07	.	7.5937	0.28035	0.2541:0.7459:0.0:0.0	.	85	Q6PG37	ZN790_HUMAN	N	85	ENSP00000349161:K85N;ENSP00000435944:K85N;ENSP00000433389:K85N	ENSP00000349161:K85N	K	-	3	2	ZNF790	42002831	0.000000	0.05858	0.115000	0.21578	0.254000	0.26022	0.138000	0.16016	1.708000	0.51301	0.484000	0.47621	AAG		0.323	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	0	NM_206894		19:37310991
NEIL2	252969	broad.mit.edu	37	8	11637109	11637109	+	Silent	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:11637109C>G	ENST00000284503.6	+	3	740	c.141C>G	c.(139-141)gtC>gtG	p.V47V	NEIL2_ENST00000455213.2_Silent_p.V47V|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000436750.3_Silent_p.V47V|NEIL2_ENST00000403422.3_5'UTR	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	47					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TTTTCTAGGTCCATGGAAAGA	0.468								Base excision repair (BER), DNA glycosylases																														ENST00000284503.6		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(139-141)gtC>gtG	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 2 (E. coli)							56.0	70.0	65.0					8																	11637109		2200	4296	6496	SO:0001819	synonymous_variant	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11637109C>G	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.141C>G	8.37:g.11637109C>G		False	False		Somatic	0				NEIL2_ENST00000436750.3_Silent_p.V47V|NEIL2_ENST00000455213.2_Silent_p.V47V|NEIL2_ENST00000403422.3_5'UTR|NEIL2_ENST00000528323.1_Intron	p.V47V	NM_145043.2	NP_659480.1	WXS	Illumina HiSeq	Phase_I	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	3	740	+	all_epithelial(15;0.103)		47					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	37	c.141C>G	CCDS5984.1																																																																																				0.468	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	0	NM_145043		8:11637109
NCAM1	4684	broad.mit.edu	37	11	113078701	113078701	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:113078701C>T	ENST00000533760.1	+	7	1138	c.539C>T	c.(538-540)gCg>gTg	p.A180V	NCAM1_ENST00000401611.2_Missense_Mutation_p.A297V|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.A288V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	298	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGCAGGATGCGACCATCCAC	0.537																																						ENST00000316851.7		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(862-864)gCg>gTg		neural cell adhesion molecule 1							50.0	51.0	51.0					11																	113078701		2071	4217	6288	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113078701C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.539C>T	11.37:g.113078701C>T	ENSP00000473281:p.Ala180Val	False	False		Somatic	0				NCAM1_ENST00000533760.1_Missense_Mutation_p.A180V|NCAM1_ENST00000401611.2_Missense_Mutation_p.A297V|NCAM1_ENST00000397957.4_3'UTR	p.A288V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina HiSeq	Phase_I	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	6	863	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	298			Ig-like C2-type 3.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.863C>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.105555	0.77096	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.69040	-0.37;-0.37	5.71	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.205034	0.50627	D	0.000106	T	0.72293	0.3442	.	.	.	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.97	P;P;P;P;B	0.51657	0.612;0.612;0.609;0.676;0.329	T	0.75260	-0.3380	9	0.56958	D	0.05	-40.4986	15.5067	0.75745	0.1389:0.8611:0.0:0.0	.	298;298;298;298;298	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	V	180;297;288	ENSP00000384055:A297V;ENSP00000318472:A288V	ENSP00000318472:A288V	A	+	2	0	NCAM1	112583911	0.996000	0.38824	0.946000	0.38457	0.966000	0.64601	4.470000	0.60175	2.710000	0.92621	0.655000	0.94253	GCG		0.537	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	0	NM_000615		11:113078701
KRT76	51350	broad.mit.edu	37	12	53170526	53170526	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:53170526G>A	ENST00000332411.2	-	1	603	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	184	Coil 1A.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCTGTTCCCGCTCCTGGGCC	0.557																																						ENST00000332411.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(550-552)Cgg>Tgg		keratin 76							106.0	112.0	110.0					12																	53170526		2203	4298	6501	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170526G>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.550C>T	12.37:g.53170526G>A	ENSP00000330101:p.Arg184Trp	True	False		Somatic	0					p.R184W	NM_015848.4	NP_056932.2	WXS	Illumina HiSeq	Phase_I	Q01546	K22O_HUMAN			1	603	-			184			Coil 1A.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.550C>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271171	0.59649	.	.	ENSG00000185069	ENST00000332411	D	0.90261	-2.64	4.2	1.28	0.21552	Filament (1);	0.187921	0.26140	N	0.026104	D	0.95201	0.8444	M	0.87547	2.89	0.35775	D	0.821214	D	0.89917	1.0	D	0.97110	1.0	D	0.96746	0.9550	10	0.87932	D	0	.	13.7626	0.62975	0.0:0.0:0.2799:0.7201	.	184	Q01546	K22O_HUMAN	W	184	ENSP00000330101:R184W	ENSP00000330101:R184W	R	-	1	2	KRT76	51456793	1.000000	0.71417	0.969000	0.41365	0.984000	0.73092	1.734000	0.38166	0.284000	0.22305	-0.372000	0.07161	CGG		0.557	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	0	NM_015848		12:53170526
ADAMTS4	9507	broad.mit.edu	37	1	161166670	161166670	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:161166670G>A	ENST00000367996.5	-	2	1062	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Splice_Site_p.R212C	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	212					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GAAGCAAAGCGCTGTAGAGAA	0.527																																						ENST00000367996.5		NA																	0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(634-636)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 4							120.0	125.0	123.0					1																	161166670		2203	4300	6503	SO:0001630	splice_region_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161166670G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.634-1C>T	1.37:g.161166670G>A		False	False		Somatic	0				ADAMTS4_ENST00000367995.3_Splice_Site_p.R212C	p.R212C	NM_005099.4	NP_005090.3	WXS	Illumina HiSeq	Phase_I	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		2	1062	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		NA					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Splice_Site	SNP	ENST00000367996.5	37	c.634C>T	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989431	0.74589	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.76839	-0.51;-1.05	4.64	4.64	0.57946	Metallopeptidase, catalytic domain (1);	0.197716	0.32548	N	0.005951	T	0.75287	0.3829	L	0.27053	0.805	0.54753	D	0.999987	D;D	0.89917	1.0;0.982	D;P	0.83275	0.996;0.75	T	0.79671	-0.1706	10	0.87932	D	0	.	11.7012	0.51571	0.0:0.0:0.823:0.177	.	212;212	Q5VTW1;O75173	.;ATS4_HUMAN	C	212	ENSP00000356975:R212C;ENSP00000356974:R212C	ENSP00000356974:R212C	R	-	1	0	ADAMTS4	159433294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.564000	0.67359	2.418000	0.82041	0.650000	0.86243	CGC		0.527	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	0	NM_005099	Missense_Mutation	1:161166670
AHNAK2	113146	broad.mit.edu	37	14	105412337	105412337	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105412337G>A	ENST00000333244.5	-	7	9570	c.9451C>T	c.(9451-9453)Ccg>Tcg	p.P3151S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3151						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.597																																						ENST00000333244.5		NA																	0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9451-9453)Ccg>Tcg		AHNAK nucleoprotein 2							197.0	138.0	157.0					14																	105412337		1926	4055	5981	SO:0001583	missense	113146					nucleus		g.chr14:105412337G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9451C>T	14.37:g.105412337G>A	ENSP00000353114:p.Pro3151Ser	False	False		Somatic	0				AHNAK2_ENST00000557457.1_Intron	p.P3151S	NM_138420.2	NP_612429.2	WXS	Illumina HiSeq	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9570	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3151					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9451C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	11.15	1.553486	0.27739	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	3.29	3.29	0.37713	.	.	.	.	.	T	0.23649	0.0572	M	0.93106	3.38	0.35976	D	0.8357	D	0.89917	1.0	D	0.87578	0.998	T	0.48790	-0.9004	9	0.52906	T	0.07	.	14.1401	0.65313	0.0:0.0:1.0:0.0	.	3151	Q8IVF2	AHNK2_HUMAN	S	3151	ENSP00000353114:P3151S	ENSP00000353114:P3151S	P	-	1	0	AHNAK2	104483382	0.998000	0.40836	0.775000	0.31657	0.006000	0.05464	2.062000	0.41413	1.372000	0.46190	0.313000	0.20887	CCG		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	NM_138420		14:105412337
PLAA	9373	broad.mit.edu	37	9	26919394	26919394	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:26919394A>G	ENST00000397292.3	-	9	1748	c.1331T>C	c.(1330-1332)cTg>cCg	p.L444P	PLAA_ENST00000520884.1_Missense_Mutation_p.L444P|PLAA_ENST00000520641.1_5'UTR	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	444	PFU. {ECO:0000255|PROSITE- ProRule:PRU00727}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TACTTGATCCAGAAACATAGG	0.353																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3		NA																	0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1330-1332)cTg>cCg		phospholipase A2-activating protein							134.0	138.0	136.0					9																	26919394		2203	4297	6500	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26919394A>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1331T>C	9.37:g.26919394A>G	ENSP00000380460:p.Leu444Pro	False	False		Somatic	0				PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.L444P	p.L444P	NM_001031689.2	NP_001026859.1	WXS	Illumina HiSeq	Phase_I	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	9	1748	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	444			PFU.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1331T>C	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212242	0.79240	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.61627	0.09;0.23	5.53	5.53	0.82687	PLAA family ubiquitin binding, PFU (2);	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85613	0.1259	10	0.72032	D	0.01	-5.71	15.6677	0.77242	1.0:0.0:0.0:0.0	.	444;444	E5RIM3;Q9Y263	.;PLAP_HUMAN	P	444	ENSP00000380460:L444P;ENSP00000429372:L444P	ENSP00000380460:L444P	L	-	2	0	PLAA	26909394	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.059000	0.76684	2.092000	0.63282	0.482000	0.46254	CTG		0.353	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	0	NM_001031689		9:26919394
MMP9	4318	broad.mit.edu	37	20	44639630	44639630	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:44639630G>A	ENST00000372330.3	+	4	609	c.590G>A	c.(589-591)gGc>gAc	p.G197D	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	197					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCTGGCCCCGGCATTCAGGGA	0.602																																						ENST00000372330.3		NA																	0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(589-591)gGc>gAc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						86.0	80.0	82.0					20																	44639630		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639630G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.590G>A	20.37:g.44639630G>A	ENSP00000361405:p.Gly197Asp	False	False		Somatic	0					p.G197D	NM_004994.2	NP_004985.2	WXS	Illumina HiSeq	Phase_I	P14780	MMP9_HUMAN			4	609	+		Myeloproliferative disorder(115;0.0122)	197					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.590G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125006	0.94429	.	.	ENSG00000100985	ENST00000372330	T	0.23754	1.89	4.62	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.76328	2.33	0.80722	D	1	P	0.40660	0.726	P	0.53649	0.731	T	0.50642	-0.8804	10	0.87932	D	0	.	16.9809	0.86327	0.0:0.0:1.0:0.0	.	197	P14780	MMP9_HUMAN	D	197	ENSP00000361405:G197D	ENSP00000361405:G197D	G	+	2	0	MMP9	44073037	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.601000	0.98297	2.553000	0.86117	0.650000	0.86243	GGC		0.602	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1	0			20:44639630
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:7578555C>A	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site	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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(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						c.e5-1	Other conserved DNA damage response genes	tumor protein p53							42.0	42.0	42.0					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555C>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.376-1G>T	17.37:g.7578555C>A		False	False	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)	Somatic	0				TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	NA					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		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370877	0.61624	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546	Intron	17:7578555
NOTUM	147111	broad.mit.edu	37	17	79914915	79914915	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:79914915C>T	ENST00000409678.3	-	7	1114	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	244				R -> L (in Ref. 1; AAH36872). {ECO:0000305}.		extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTCAGCCACACGGTCCACATT	0.662																																						ENST00000409678.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(730-732)cGt>cAt		notum pectinacetylesterase homolog (Drosophila)							61.0	52.0	55.0					17																	79914915		2203	4300	6503	SO:0001583	missense	147111					extracellular region	hydrolase activity	g.chr17:79914915C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.731G>A	17.37:g.79914915C>T	ENSP00000387310:p.Arg244His	False	False		Somatic	0					p.R244H	NM_178493.5	NP_848588.3	WXS	Illumina HiSeq	Phase_I	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1114	-	all_neural(118;0.0878)|Ovarian(332;0.12)		244	R -> L (in Ref. 1; AAH36872).				Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.731G>A	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724700	0.30593	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.54	3.56	0.40772	.	0.302720	0.37483	N	0.002071	T	0.43255	0.1239	L	0.39245	1.2	0.43994	D	0.996693	B	0.28258	0.205	B	0.28139	0.086	T	0.44817	-0.9303	9	0.48119	T	0.1	.	5.0317	0.14413	0.1749:0.6566:0.0:0.1686	.	244	Q6P988	NOTUM_HUMAN	H	244	.	ENSP00000387310:R244H	R	-	2	0	NOTUM	77508205	0.958000	0.32768	0.998000	0.56505	0.611000	0.37282	2.080000	0.41586	2.055000	0.61198	0.313000	0.20887	CGT		0.662	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	0	NM_178493		17:79914915
TLL2	7093	broad.mit.edu	37	10	98157035	98157035	+	Missense_Mutation	SNP	G	G	A	rs142713663	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:98157035G>A	ENST00000357947.3	-	11	1517	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	431	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAGGGGCTCCGGGATCTTATC	0.577																																						ENST00000357947.3		NA																	0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1291-1293)cCg>cTg		tolloid-like 2		G	LEU/PRO	0,4406		0,0,2203	53.0	49.0	50.0		1292	5.1	0.5	10	dbSNP_134	50	9,8591	7.1+/-27.0	0,9,4291	yes	missense	TLL2	NM_012465.3	98	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	probably-damaging	431/1016	98157035	9,12997	2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98157035G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1292C>T	10.37:g.98157035G>A	ENSP00000350630:p.Pro431Leu	True	False		Somatic	0				TLL2_ENST00000469598.1_5'UTR	p.P431L	NM_012465.3	NP_036597.1	WXS	Illumina HiSeq	Phase_I	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1517	-		Colorectal(252;0.0846)	431			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1292C>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868544	0.72065	0.0	0.001047	ENSG00000095587	ENST00000357947	T	0.39406	1.08	5.11	5.11	0.69529	CUB (5);	0.000000	0.45361	D	0.000368	T	0.72590	0.3479	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76716	-0.2857	10	0.40728	T	0.16	.	17.7077	0.88313	0.0:0.0:1.0:0.0	.	431	Q9Y6L7	TLL2_HUMAN	L	431	ENSP00000350630:P431L	ENSP00000350630:P431L	P	-	2	0	TLL2	98147025	1.000000	0.71417	0.486000	0.27416	0.177000	0.22998	9.464000	0.97655	2.654000	0.90174	0.650000	0.86243	CCG		0.577	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1	0			10:98157035
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6		NA																	1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214.0	180.0	192.0					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val	False	False		Somatic	0					p.A2493V	NM_003890.2	NP_003881.2	WXS	Illumina HiSeq	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	NM_003890		19:40395919
ADAMTS2	9509	broad.mit.edu	37	5	178541162	178541162	+	Silent	SNP	G	G	A	rs79606317		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:178541162G>A	ENST00000251582.7	-	22	3443	c.3342C>T	c.(3340-3342)aaC>aaT	p.N1114N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1114					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1114N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGTCAATGTCGTTGTGCTTCC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19030	0.001		0.0	False		,,,				2504	0.0					ENST00000251582.7		NA																	1	Substitution - coding silent(1)	p.N1114N(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(3340-3342)aaC>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 2		G		0,4406		0,0,2203	192.0	148.0	163.0		3342	-7.7	0.7	5	dbSNP_131	163	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ADAMTS2	NM_014244.4		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		1114/1212	178541162	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541162G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3342C>T	5.37:g.178541162G>A		False	False		Somatic	0					p.N1114N	NM_014244.4	NP_055059.2	WXS	Illumina HiSeq	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3443	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1114						Silent	SNP	ENST00000251582.7	37	c.3342C>T	CCDS4444.1																																																																																				0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	0	NM_014244		5:178541162
TEP1	7011	broad.mit.edu	37	14	20869179	20869179	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:20869179G>A	ENST00000262715.5	-	9	1553	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	TEP1_ENST00000556935.1_Missense_Mutation_p.R397W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	505	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGTTCCCCCGTAGGCTCAGC	0.542																																						ENST00000262715.5		NA																	0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1513-1515)Cgg>Tgg		telomerase-associated protein 1							142.0	117.0	125.0					14																	20869179		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20869179G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1513C>T	14.37:g.20869179G>A	ENSP00000262715:p.Arg505Trp	True	False		Somatic	0				TEP1_ENST00000556935.1_Missense_Mutation_p.R397W	p.R505W	NM_007110.4	NP_009041.2	WXS	Illumina HiSeq	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	9	1553	-	all_cancers(95;0.00123)	all_lung(585;0.235)	505			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1513C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860278	0.51482	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15718	2.4;2.4	5.71	2.77	0.32553	TROVE (2);	0.542528	0.20377	N	0.093526	T	0.17789	0.0427	M	0.64997	1.995	0.20307	N	0.999916	B;B	0.22346	0.022;0.068	B;B	0.17722	0.008;0.019	T	0.18335	-1.0340	10	0.87932	D	0	-9.617	8.5605	0.33507	0.0721:0.0:0.4738:0.4541	.	397;505	G3V5X7;Q99973	.;TEP1_HUMAN	W	505;505;397	ENSP00000262715:R505W;ENSP00000452574:R397W	ENSP00000262715:R505W	R	-	1	2	TEP1	19939019	0.002000	0.14202	0.333000	0.25482	0.410000	0.31052	0.233000	0.17911	0.752000	0.32923	0.555000	0.69702	CGG		0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	0	NM_007110		14:20869179
ZNF709	163051	broad.mit.edu	37	19	12576048	12576048	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:12576048C>T	ENST00000397732.3	-	4	859	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.G230R	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						AACGTTTTCCCGCATTCTTTA	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3		NA																	0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(688-690)Ggg>Agg		zinc finger protein 709							102.0	106.0	104.0					19																	12576048		2197	4300	6497	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12576048C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.688G>A	19.37:g.12576048C>T	ENSP00000380840:p.Gly230Arg	True	False		Somatic	0				CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.G230R	p.G230R	NM_152601.3	NP_689814.1	WXS	Illumina HiSeq	Phase_I	Q8N972	ZN709_HUMAN			4	859	-			230					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.688G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397133	0.62177	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.03524	3.9;3.9	2.4	0.0633	0.14348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34676	N	0.003765	T	0.12732	0.0309	M	0.77616	2.38	0.30398	N	0.780325	D	0.89917	1.0	D	0.78314	0.991	T	0.01972	-1.1237	10	0.66056	D	0.02	.	6.0058	0.19544	0.0:0.6798:0.1959:0.1243	.	230	Q8N972	ZN709_HUMAN	R	230	ENSP00000380840:G230R;ENSP00000404127:G230R	ENSP00000404127:G230R	G	-	1	0	ZNF709;CTD-2192J16.17	12437048	0.059000	0.20769	0.201000	0.23476	0.396000	0.30629	1.548000	0.36201	0.097000	0.17492	0.313000	0.20887	GGG		0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	0	NM_152601		19:12576048
DSG3	1830	broad.mit.edu	37	18	29049139	29049139	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:29049139G>A	ENST00000257189.4	+	12	1807	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	575					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAACAATCGGTGTGAGATG	0.527																																						ENST00000257189.4		NA																	0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1723-1725)cGg>cAg		desmoglein 3							151.0	136.0	141.0					18																	29049139		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29049139G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1724G>A	18.37:g.29049139G>A	ENSP00000257189:p.Arg575Gln	False	False		Somatic	0					p.R575Q	NM_001944.2	NP_001935.2	WXS	Illumina HiSeq	Phase_I	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1807	+			575					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1724G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462788	0.26248	.	.	ENSG00000134757	ENST00000257189	T	0.58060	0.36	5.95	-11.9	0.00025	.	1.487420	0.04727	N	0.420484	T	0.23094	0.0558	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05852	-1.0860	10	0.14252	T	0.57	.	8.0923	0.30807	0.1856:0.0:0.3465:0.4679	.	575	P32926	DSG3_HUMAN	Q	575	ENSP00000257189:R575Q	ENSP00000257189:R575Q	R	+	2	0	DSG3	27303137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.230000	0.01207	-3.245000	0.00206	-1.911000	0.00521	CGG		0.527	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	0	NM_001944		18:29049139
BNIP3P1	319138	broad.mit.edu	37	14	28734253	28734253	+	RNA	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:28734253C>A	ENST00000550043.1	+	0	658									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		TGAAAGTTTTCTTTCCATCTC	0.493																																						ENST00000550043.1		NA																	0					NA																																														0							g.chr14:28734253C>A			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28734253C>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	658	+			NA						RNA	SNP	ENST00000550043.1	37																																																																																						0.493	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1	0			14:28734253
ST8SIA5	29906	broad.mit.edu	37	18	44272163	44272163	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:44272163C>A	ENST00000315087.7	-	3	940	c.280G>T	c.(280-282)Gcg>Tcg	p.A94S	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A130S|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A63S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	94					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATGTTCATCGCCCATTTGCAC	0.522																																						ENST00000315087.7		NA																	0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(280-282)Gcg>Tcg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							228.0	153.0	178.0					18																	44272163		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44272163C>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.280G>T	18.37:g.44272163C>A	ENSP00000321343:p.Ala94Ser	True	False		Somatic	0				ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A130S|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A63S|ST8SIA5_ENST00000590497.1_5'UTR	p.A94S	NM_013305.4	NP_037437.2	WXS	Illumina HiSeq	Phase_I	O15466	SIA8E_HUMAN			3	940	-			94					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.280G>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627958	0.28978	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.43294	0.97;0.95;1.57	4.89	4.02	0.46733	.	0.249281	0.40064	N	0.001183	T	0.30823	0.0777	L	0.29908	0.895	0.34705	D	0.727107	B;B;B;B	0.16166	0.008;0.006;0.001;0.016	B;B;B;B	0.18561	0.017;0.004;0.003;0.022	T	0.32534	-0.9903	10	0.23302	T	0.38	.	13.3123	0.60386	0.0:0.923:0.0:0.077	.	63;130;63;94	F5H8D1;B7Z1K9;B7Z5F7;O15466	.;.;.;SIA8E_HUMAN	S	94;130;63	ENSP00000321343:A94S;ENSP00000445492:A130S;ENSP00000443683:A63S	ENSP00000321343:A94S	A	-	1	0	ST8SIA5	42526161	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.591000	0.67536	1.199000	0.43173	0.555000	0.69702	GCG		0.522	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	0	NM_013305		18:44272163
GLIS3	169792	broad.mit.edu	37	9	4118378	4118378	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:4118378C>T	ENST00000324333.10	-	3	828	c.635G>A	c.(634-636)gGc>gAc	p.G212D	GLIS3_ENST00000381971.3_Missense_Mutation_p.G367D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	212					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCTGGCTGCCGGGCACCGG	0.736																																						ENST00000324333.10		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(634-636)gGc>gAc		GLIS family zinc finger 3							5.0	6.0	6.0					9																	4118378		1786	3552	5338	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118378C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.635G>A	9.37:g.4118378C>T	ENSP00000325494:p.Gly212Asp	False	False		Somatic	0				GLIS3_ENST00000381971.3_Missense_Mutation_p.G367D	p.G212D	NM_152629.3	NP_689842.3	WXS	Illumina HiSeq	Phase_I	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	828	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	212					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.635G>A	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	4.448	0.083027	0.08533	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.10573	2.87;2.86	5.63	4.73	0.59995	.	0.314417	0.25622	N	0.029409	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B;B	0.17667	0.023;0.006	B;B	0.18561	0.022;0.01	T	0.40117	-0.9580	10	0.15066	T	0.55	.	5.5169	0.16912	0.0:0.6111:0.1599:0.229	.	367;212	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	D	212;367	ENSP00000325494:G212D;ENSP00000371398:G367D	ENSP00000325494:G212D	G	-	2	0	GLIS3	4108378	0.000000	0.05858	0.016000	0.15963	0.060000	0.15804	0.091000	0.15046	1.372000	0.46190	0.655000	0.94253	GGC		0.736	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	0	NM_152629		9:4118378
SZT2	23334	broad.mit.edu	37	1	43902866	43902866	+	Missense_Mutation	SNP	C	C	T	rs143602595		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:43902866C>T	ENST00000562955.1	+	42	5888	c.5888C>T	c.(5887-5889)gCg>gTg	p.A1963V	SZT2_ENST00000372442.1_Missense_Mutation_p.A1121V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2020					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGAGCTGTGCGCCCCGTGGG	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19243	0.0		0.0	False		,,,				2504	0.0					ENST00000562955.1		NA																	0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(5887-5889)gCg>gTg		seizure threshold 2 homolog (mouse)		C	VAL/ALA	0,4406		0,0,2203	115.0	112.0	113.0		5888	3.9	1.0	1	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	missense	SZT2	NM_015284.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1963/3376	43902866	2,13004	2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43902866C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5888C>T	1.37:g.43902866C>T	ENSP00000457168:p.Ala1963Val	False	False		Somatic	0				SZT2_ENST00000372442.1_Missense_Mutation_p.A1121V	p.A1963V	NM_015284.3	NP_056099.3	WXS	Illumina HiSeq	Phase_I	Q5T011	SZT2_HUMAN			42	5888	+			2020					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5888C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859171	0.51376	0.0	2.33E-4	ENSG00000198198	ENST00000372442	.	.	.	5.86	3.88	0.44766	.	0.255324	0.38663	N	0.001618	T	0.11922	0.0290	N	0.08118	0	0.24335	N	0.994987	P	0.35774	0.519	B	0.24269	0.052	T	0.13980	-1.0489	9	0.27785	T	0.31	.	8.642	0.33983	0.3233:0.5576:0.1191:0.0	.	1963	Q5T011-5	.	V	1121	.	ENSP00000361519:A1121V	A	+	2	0	SZT2	43675453	1.000000	0.71417	0.992000	0.48379	0.801000	0.45260	5.486000	0.66856	1.475000	0.48197	0.655000	0.94253	GCG		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	0	NM_015284		1:43902866
NKAIN2	154215	broad.mit.edu	37	6	124979616	124979616	+	Intron	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:124979616C>A	ENST00000368417.1	+	4	534				NKAIN2_ENST00000368416.1_Silent_p.I186I|NKAIN2_ENST00000545433.1_Intron|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CAAATGGAATCTGTGGGTAAA	0.453																																						ENST00000368416.1		NA																	0				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19						c.(556-558)atC>atA		Na+/K+ transporting ATPase interacting 2																																				SO:0001627	intron_variant	154215					integral to membrane|plasma membrane		g.chr6:124979616C>A	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.474+84C>A	6.37:g.124979616C>A		False	False		Somatic	0				NKAIN2_ENST00000368417.1_Intron|NKAIN2_ENST00000545433.1_Intron|NKAIN2_ENST00000546092.1_Intron	p.I186I			WXS	Illumina HiSeq	Phase_I	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	4	618	+			13					Q8IYR4|Q8TF67	Silent	SNP	ENST00000368417.1	37	c.558C>A	CCDS34526.1																																																																																				0.453	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	0	NM_001040214		6:124979616
DDX46	9879	broad.mit.edu	37	5	134130654	134130654	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:134130654G>A	ENST00000354283.4	+	14	1876	c.1741G>A	c.(1741-1743)Gta>Ata	p.V581I	DDX46_ENST00000452510.2_Missense_Mutation_p.V581I|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	581	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCTATTGAAGTACAAGTTGG	0.468																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2		NA																	0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1741-1743)Gta>Ata		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							220.0	198.0	206.0					5																	134130654		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134130654G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1741G>A	5.37:g.134130654G>A	ENSP00000346236:p.Val581Ile	False	False		Somatic	0				DDX46_ENST00000354283.4_Missense_Mutation_p.V581I|DDX46_ENST00000509178.1_3'UTR	p.V581I	NM_014829.2	NP_055644.2	WXS	Illumina HiSeq	Phase_I	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		14	1899	+			581			Helicase ATP-binding.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.1741G>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872519	0.33069	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.92149	-2.98;-2.98	5.42	5.42	0.78866	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.81673	0.4872	N	0.04335	-0.225	0.80722	D	1	B	0.12630	0.006	B	0.16289	0.015	T	0.77138	-0.2698	10	0.02654	T	1	-15.5181	19.5998	0.95557	0.0:0.0:1.0:0.0	.	581	Q7L014	DDX46_HUMAN	I	581	ENSP00000416534:V581I;ENSP00000346236:V581I	ENSP00000346236:V581I	V	+	1	0	DDX46	134158553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.887000	0.87295	2.717000	0.92951	0.655000	0.94253	GTA		0.468	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	0	NM_014829		5:134130654
NYAP2	57624	broad.mit.edu	37	2	226447451	226447451	+	Missense_Mutation	SNP	G	G	A	rs551391208		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:226447451G>A	ENST00000272907.6	+	4	1731	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	440	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.V440I(1)									TCCCTCCCCCGTCAGCATGGG	0.642																																						ENST00000272907.6		NA																	1	Substitution - Missense(1)	p.V440I(1)	large_intestine(1)		NA						c.(1318-1320)Gtc>Atc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							35.0	39.0	37.0					2																	226447451		2007	4183	6190	SO:0001583	missense	57624							g.chr2:226447451G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1318G>A	2.37:g.226447451G>A	ENSP00000272907:p.Val440Ile	True	False		Somatic	0				NYAP2_ENST00000409269.2_Intron	p.V440I	NM_020864.1	NP_065915.1	WXS	Illumina HiSeq	Phase_I	Q9P242	K1486_HUMAN			4	1731	+			440			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1318G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121708	0.77436	.	.	ENSG00000144460	ENST00000272907	T	0.33654	1.4	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.41824	1.3	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.41538	-0.9503	10	0.30854	T	0.27	-12.6994	18.7321	0.91739	0.0:0.0:1.0:0.0	.	440	Q9P242	K1486_HUMAN	I	440	ENSP00000272907:V440I	ENSP00000272907:V440I	V	+	1	0	KIAA1486	226155695	1.000000	0.71417	0.039000	0.18376	0.943000	0.58893	9.476000	0.97823	2.415000	0.81967	0.563000	0.77884	GTC		0.642	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	0	NM_020864		2:226447451
OR2T1	26696	broad.mit.edu	37	1	248569553	248569553	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:248569553C>A	ENST00000366474.1	+	1	258	c.258C>A	c.(256-258)ttC>ttA	p.F86L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCTTCTTCACCGCACTGA	0.443																																						ENST00000366474.1		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(256-258)ttC>ttA		olfactory receptor, family 2, subfamily T, member 1							160.0	145.0	150.0					1																	248569553		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569553C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.258C>A	1.37:g.248569553C>A	ENSP00000355430:p.Phe86Leu	False	False		Somatic	0					p.F86L	NM_030904.1	NP_112166.1	WXS	Illumina HiSeq	Phase_I	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	258	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		86					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.258C>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	1.274	-0.612375	0.03690	.	.	ENSG00000175143	ENST00000366474	T	0.00672	5.89	4.71	-0.642	0.11486	.	0.422262	0.17374	N	0.176578	T	0.00241	0.0007	N	0.00496	-1.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45323	-0.9269	10	0.02654	T	1	.	1.4067	0.02282	0.1474:0.2756:0.1437:0.4333	.	86	O43869	OR2T1_HUMAN	L	86	ENSP00000355430:F86L	ENSP00000355430:F86L	F	+	3	2	OR2T1	246636176	0.000000	0.05858	0.105000	0.21289	0.088000	0.18126	-4.701000	0.00196	0.213000	0.20722	0.557000	0.71058	TTC		0.443	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2	0			1:248569553
RNF114	55905	broad.mit.edu	37	20	48561946	48561946	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:48561946G>A	ENST00000244061.2	+	3	321	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	107					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CCGGTCCCACGTGGCTACTTG	0.458																																						ENST00000244061.2		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(319-321)Gtg>Atg		ring finger protein 114							159.0	128.0	138.0					20																	48561946		2203	4300	6503	SO:0001583	missense	55905				cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding	g.chr20:48561946G>A	AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"""RING-type (C3HC4) zinc fingers"""	13094	protein-coding gene	gene with protein product		612451	"""zinc finger protein 313"""	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.319G>A	20.37:g.48561946G>A	ENSP00000244061:p.Val107Met	False	False		Somatic	0					p.V107M	NM_018683.3	NP_061153.1	WXS	Illumina HiSeq	Phase_I	Q9Y508	RN114_HUMAN			3	321	+			107					B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	c.319G>A	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496437	0.44352	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.81078	-1.45	5.97	5.02	0.67125	.	0.234988	0.44688	D	0.000431	T	0.73984	0.3657	L	0.46157	1.445	0.26976	N	0.965477	P;B	0.52842	0.956;0.282	B;B	0.43508	0.422;0.041	T	0.70263	-0.4920	10	0.42905	T	0.14	-6.465	9.5071	0.39053	0.0741:0.0:0.7856:0.1403	.	107;107	Q9Y508-2;Q9Y508	.;RN114_HUMAN	M	107	ENSP00000244061:V107M	ENSP00000244061:V107M	V	+	1	0	RNF114	47995353	1.000000	0.71417	0.977000	0.42913	0.934000	0.57294	4.718000	0.61930	2.833000	0.97629	0.585000	0.79938	GTG		0.458	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	0	NM_018683		20:48561946
LEPR	3953	broad.mit.edu	37	1	66102532	66102532	+	Missense_Mutation	SNP	C	C	T	rs538482870		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:66102532C>T	ENST00000349533.6	+	20	3517	c.3332C>T	c.(3331-3333)aCg>aTg	p.T1111M	LEPR_ENST00000406510.3_Missense_Mutation_p.T178M	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTTATTCACGGACATCAGA	0.418																																						ENST00000349533.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(3331-3333)aCg>aTg		leptin receptor							69.0	66.0	67.0					1																	66102532		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102532C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3332C>T	1.37:g.66102532C>T	ENSP00000330393:p.Thr1111Met	False	False		Somatic	0				LEPR_ENST00000406510.3_Missense_Mutation_p.T178M	p.T1111M	NM_002303.5	NP_002294.2	WXS	Illumina HiSeq	Phase_I	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3517	+			1111					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.3332C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048241	0.19827	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.55760	0.5	5.37	-1.07	0.09968	.	0.746455	0.13820	N	0.360475	T	0.31765	0.0807	L	0.51422	1.61	0.09310	N	1	D	0.56287	0.975	P	0.49999	0.628	T	0.12372	-1.0550	10	0.48119	T	0.1	-4.0534	5.9674	0.19332	0.1701:0.3559:0.402:0.0719	.	1111	P48357	LEPR_HUMAN	M	1111;178	ENSP00000330393:T1111M	ENSP00000330393:T1111M	T	+	2	0	LEPR	65875120	0.038000	0.19896	0.098000	0.21074	0.002000	0.02628	0.224000	0.17738	0.136000	0.18733	-0.237000	0.12165	ACG		0.418	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	NM_002303		1:66102532
F11	2160	broad.mit.edu	37	4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T	rs369435407		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:187206814C>T	ENST00000403665.2	+	12	1679	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	F11_ENST00000264692.4_Missense_Mutation_p.R391C|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358																																						ENST00000264692.4		NA																	1	Substitution - Missense(1)	p.R443C(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32	GRCh37	CM062624	F11	M		c.(1171-1173)Cgt>Tgt		coagulation factor XI	Coagulation Factor IX(DB00100)	C	CYS/ARG	0,4406		0,0,2203	121.0	122.0	122.0		1327	4.9	1.0	4		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	F11	NM_000128.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	443/626	187206814	1,13005	2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187206814C>T	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1327C>T	4.37:g.187206814C>T	ENSP00000384957:p.Arg443Cys	False	False		Somatic	0				F11_ENST00000403665.2_Missense_Mutation_p.R443C	p.R391C			WXS	Illumina HiSeq	Phase_I	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	12	1504	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	443			Peptidase S1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.1171C>T	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655726	0.67586	0.0	1.16E-4	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.89617	-2.54;-2.54	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.278238	0.31673	N	0.007243	D	0.93861	0.8036	M	0.81341	2.54	0.48395	D	0.999649	D	0.89917	1.0	D	0.76071	0.987	D	0.93783	0.7085	9	.	.	.	.	13.1878	0.59691	0.1594:0.8406:0.0:0.0	.	443	P03951	FA11_HUMAN	C	443;391	ENSP00000384957:R443C;ENSP00000264692:R391C	.	R	+	1	0	F11	187443808	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.339000	0.52135	2.504000	0.84457	0.650000	0.86243	CGT		0.358	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4	0			4:187206814
RP11-423O2.5	0	broad.mit.edu	37	1	142803697	142803697	+	lincRNA	SNP	A	A	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:142803697A>C	ENST00000423385.1	-	0	1268																											taaagccatcataacatctgt	0.338																																						ENST00000423385.1		NA																	0					NA																																														0							g.chr1:142803697A>C																													1.37:g.142803697A>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1268	-			NA						RNA	SNP	ENST00000423385.1	37																																																																																						0.338	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1	0			1:142803697
ANAPC4	29945	broad.mit.edu	37	4	25395511	25395511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:25395511C>T	ENST00000315368.3	+	11	1016	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.Q292*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.Q292*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CAAGTTTGTGCAGGTAAAGCA	0.353																																						ENST00000315368.3		NA																	1	Substitution - Nonsense(1)	p.Q292*(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(874-876)Cag>Tag		anaphase promoting complex subunit 4							81.0	76.0	78.0					4																	25395511		2203	4300	6503	SO:0001587	stop_gained	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25395511C>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.874C>T	4.37:g.25395511C>T	ENSP00000318775:p.Gln292*	False	False		Somatic	0				ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.Q292*	p.Q292*	NM_013367.2	NP_037499.2	WXS	Illumina HiSeq	Phase_I	Q9UJX5	APC4_HUMAN			11	1016	+		Breast(46;0.0503)	292					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Nonsense_Mutation	SNP	ENST00000315368.3	37	c.874C>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	39	7.341870	0.98224	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-20.3366	20.394	0.98981	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000318775:Q292X	Q	+	1	0	ANAPC4	25004609	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.162000	0.77515	2.830000	0.97506	0.585000	0.79938	CAG		0.353	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	0	NM_013367		4:25395511
TRIM67	440730	broad.mit.edu	37	1	231298879	231298879	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:231298879C>T	ENST00000366653.5	+	1	164	c.164C>T	c.(163-165)tCg>tTg	p.S55L	TRIM67_ENST00000444294.3_Missense_Mutation_p.S55L|TRIM67_ENST00000366652.2_Missense_Mutation_p.S55L|TRIM67_ENST00000449018.3_Intron			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	55					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TCCCGGGGATCGGGGCTGCAG	0.741																																						ENST00000444294.3		NA																	0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(163-165)tCg>tTg		tripartite motif containing 67							5.0	6.0	5.0					1																	231298879		1795	3951	5746	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231298879C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.164C>T	1.37:g.231298879C>T	ENSP00000355613:p.Ser55Leu	True	False		Somatic	0				TRIM67_ENST00000366653.5_Missense_Mutation_p.S55L|TRIM67_ENST00000366652.2_Missense_Mutation_p.S55L|TRIM67_ENST00000449018.3_Intron	p.S55L	NM_001004342.3	NP_001004342.3	WXS	Illumina HiSeq	Phase_I	Q6ZTA4	TRI67_HUMAN			1	1022	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	55					Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.164C>T	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079775	0.20309	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000366653	T;T;T	0.70516	-0.49;-0.4;-0.49	4.02	4.02	0.46733	Zinc finger, RING-type (1);	2.080550	0.03330	N	0.193199	T	0.55784	0.1942	N	0.08118	0	0.09310	N	1	B	0.22851	0.076	B	0.12156	0.007	T	0.41305	-0.9516	10	0.28530	T	0.3	.	13.4243	0.61015	0.0:1.0:0.0:0.0	.	55	Q6ZTA4	TRI67_HUMAN	L	55	ENSP00000412124:S55L;ENSP00000355612:S55L;ENSP00000355613:S55L	ENSP00000355612:S55L	S	+	2	0	TRIM67	229365502	0.772000	0.28567	0.083000	0.20561	0.114000	0.19823	-0.265000	0.08644	1.949000	0.56562	0.313000	0.20887	TCG		0.741	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	0	NM_001004342		1:231298879
LGI3	203190	broad.mit.edu	37	8	22006465	22006465	+	Silent	SNP	C	C	T	rs531787685		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:22006465C>T	ENST00000306317.2	-	8	1144	c.855G>A	c.(853-855)ccG>ccA	p.P285P	LGI3_ENST00000424267.2_Silent_p.P261P	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	285					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCACCACCATCGGCTTGCAGT	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19186	0.0		0.0	False		,,,				2504	0.0					ENST00000306317.2		NA																	0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(853-855)ccG>ccA		leucine-rich repeat LGI family, member 3							42.0	37.0	39.0					8																	22006465		2203	4300	6503	SO:0001819	synonymous_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006465C>T	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.855G>A	8.37:g.22006465C>T		False	False		Somatic	0				LGI3_ENST00000424267.2_Silent_p.P261P	p.P285P	NM_139278.2	NP_644807.1	WXS	Illumina HiSeq	Phase_I	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1144	-			285					A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	c.855G>A	CCDS6025.1																																																																																				0.637	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1	0			8:22006465
ATP8B3	148229	broad.mit.edu	37	19	1785279	1785279	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:1785279C>A	ENST00000310127.6	-	27	3649	c.3411G>T	c.(3409-3411)aaG>aaT	p.K1137N	ATP8B3_ENST00000539485.1_Missense_Mutation_p.K1147N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.K1100N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1137					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|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)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCCAGTACTTGATGATAA	0.607																																						ENST00000539485.1		NA																	0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3439-3441)aaG>aaT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							39.0	47.0	44.0					19																	1785279		2190	4290	6480	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785279C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3411G>T	19.37:g.1785279C>A	ENSP00000311336:p.Lys1137Asn	False	False		Somatic	0				ATP8B3_ENST00000310127.6_Missense_Mutation_p.K1137N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.K1100N	p.K1147N			WXS	Illumina HiSeq	Phase_I	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3674	-		Hepatocellular(1079;0.137)	1137					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3441G>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345599	0.41498	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	D;D;D	0.88664	-2.41;-2.41;-2.41	4.49	-0.244	0.13031	.	0.488846	0.21162	N	0.079130	D	0.83594	0.5288	L	0.28694	0.88	0.21604	N	0.999627	D;D	0.54964	0.961;0.969	P;P	0.52159	0.617;0.691	T	0.75068	-0.3448	10	0.45353	T	0.12	.	5.2161	0.15344	0.1426:0.6161:0.0:0.2414	.	1137;1100	O60423;Q7Z485	AT8B3_HUMAN;.	N	1137;1147;1100	ENSP00000311336:K1137N;ENSP00000443574:K1147N;ENSP00000437115:K1100N	ENSP00000311336:K1137N	K	-	3	2	ATP8B3	1736279	0.001000	0.12720	0.070000	0.20053	0.053000	0.15095	-0.307000	0.08167	-0.219000	0.10003	-0.136000	0.14681	AAG		0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	0	NM_138813		19:1785279
PKHD1	5314	broad.mit.edu	37	6	51944795	51944795	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:51944795G>A	ENST00000371117.3	-	5	568	c.293C>T	c.(292-294)tCt>tTt	p.S98F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S98F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	98	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGCTTCAGACAGCACAGA	0.473																																						ENST00000371117.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(292-294)tCt>tTt		polycystic kidney and hepatic disease 1 (autosomal recessive)							128.0	117.0	120.0					6																	51944795		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944795G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.293C>T	6.37:g.51944795G>A	ENSP00000360158:p.Ser98Phe	False	False		Somatic	0				PKHD1_ENST00000340994.4_Missense_Mutation_p.S98F	p.S98F	NM_138694.3	NP_619639.3	WXS	Illumina HiSeq	Phase_I	P08F94	PKHD1_HUMAN			5	568	-	Lung NSC(77;0.0605)		98			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.293C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345983	0.41599	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88124	-2.13;-2.34	5.31	3.41	0.39046	.	0.768295	0.12007	N	0.508240	T	0.74951	0.3784	L	0.46157	1.445	0.09310	N	1	P;P	0.45474	0.859;0.779	B;B	0.40444	0.329;0.177	T	0.67452	-0.5667	10	0.62326	D	0.03	.	9.7386	0.40404	0.0:0.1492:0.6976:0.1532	.	98;98	P08F94-2;P08F94	.;PKHD1_HUMAN	F	98	ENSP00000360158:S98F;ENSP00000341097:S98F	ENSP00000341097:S98F	S	-	2	0	PKHD1	52052754	0.010000	0.17322	0.008000	0.14137	0.776000	0.43924	1.556000	0.36288	2.631000	0.89168	0.655000	0.94253	TCT		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	0	NM_138694		6:51944795
