#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
PPFIBP2	8495	broad.mit.edu	37	11	7661048	7661050	+	In_Frame_Del	DEL	CTC	CTC	-	rs375552735|rs143023559	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:7661048_7661050delCTC	ENST00000299492.4	+	15	1710_1712	c.1322_1324delCTC	c.(1321-1326)tctcct>tct	p.P443del	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_In_Frame_Del_p.P300del|PPFIBP2_ENST00000528883.1_In_Frame_Del_p.P331del|PPFIBP2_ENST00000533792.1_In_Frame_Del_p.P285del	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	443					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.P442S(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCTGCCAAATCTCCTCCCACCAT	0.596														226	0.0451278	0.0129	0.0576	5008	,	,		18604	0.0933		0.0477	False		,,,				2504	0.0276					ENST00000530181.1		NA																	1	Substitution - Missense(1)	p.P442S(1)	upper_aerodigestive_tract(1)	breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(892-897)tctcct>tct		PTPRF interacting protein, binding protein 2 (liprin beta 2)				85,4179		1,83,2048						1.4	0.0		dbSNP_134	94	316,7928		9,298,3815	no	coding	PPFIBP2	NM_003621.2		10,381,5863	A1A1,A1R,RR		3.8331,1.9934,3.2059				401,12107				SO:0001651	inframe_deletion	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7661048_7661050delCTC	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1322_1324delCTC	11.37:g.7661051_7661053delCTC	ENSP00000299492:p.Pro443del	False	False		Somatic	2				PPFIBP2_ENST00000528883.1_In_Frame_Del_p.P331del|PPFIBP2_ENST00000299492.4_In_Frame_Del_p.P443del|PPFIBP2_ENST00000533792.1_In_Frame_Del_p.P285del|PPFIBP2_ENST00000530582.1_3'UTR	p.P300del	NM_001256569.1	NP_001243498.1	WXS	Illumina HiSeq	Phase_I	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	11	1114_1116	+			443					B7Z433|E9PK77|O75337|Q8WW26	In_Frame_Del	DEL	ENST00000299492.4	37	c.893_895delCTC	CCDS31419.1																																																																																				0.596	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	0	NM_003621		11:7661048
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del			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_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000578778.1_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
SYTL2	54843	broad.mit.edu	37	11	85422269	85422270	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:85422269_85422270insA	ENST00000528231.1	-	11	1993_1994	c.1716_1717insT	c.(1714-1719)gatgacfs	p.D573fs	SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.D895fs|SYTL2_ENST00000359152.5_Frame_Shift_Ins_p.D1419fs|SYTL2_ENST00000389958.3_Frame_Shift_Ins_p.D4fs|SYTL2_ENST00000529581.1_Frame_Shift_Ins_p.D15fs|SYTL2_ENST00000527523.1_Frame_Shift_Ins_p.D541fs|SYTL2_ENST00000525702.1_Frame_Shift_Ins_p.D15fs|SYTL2_ENST00000316356.4_Frame_Shift_Ins_p.D574fs|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.D911fs|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	573					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTTTCTCTGTCATCACTCTACA	0.401																																						ENST00000525423.1		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2680-2685)gatgacfs		synaptotagmin-like 2																																				SO:0001589	frameshift_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85422269_85422270insA	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1717dupT	11.37:g.85422270_85422270dupA	ENSP00000431701:p.Asp573fs	False	False		Somatic	1				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.D911fs|SYTL2_ENST00000316356.4_Frame_Shift_Ins_p.D574fs|SYTL2_ENST00000525702.1_Frame_Shift_Ins_p.D15fs|SYTL2_ENST00000389958.3_Frame_Shift_Ins_p.D4fs|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000529581.1_Frame_Shift_Ins_p.D15fs|SYTL2_ENST00000528231.1_Frame_Shift_Ins_p.D573fs|SYTL2_ENST00000527523.1_Frame_Shift_Ins_p.D541fs|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000359152.5_Frame_Shift_Ins_p.D1419fs	p.D895fs			WXS	Illumina HiSeq	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	5	4253_4254	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	573					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Ins	INS	ENST00000528231.1	37	c.2682_2683insT	CCDS53688.1																																																																																				0.401	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	0	NM_206927		11:85422269
DCP1B	196513	broad.mit.edu	37	12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG	rs570843986	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr12:2062350_2062351insTGG	ENST00000280665.6	-	7	834_835	c.755_756insCCA	c.(754-756)cag>caCCAg	p.251_252insH	DCP1B_ENST00000540622.1_In_Frame_Ins_p.125_126insH|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251	Poly-Gln.			H -> HQ (in Ref. 1; AAN62764, 2; BAB71118 and 4; AAH15368/AAH43437). {ECO:0000305}.	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55																																						ENST00000540622.1		NA																	8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(376-378)cag>caCCAg		decapping mRNA 1B																																				SO:0001652	inframe_insertion	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350_2062351insTGG	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.753_755dupCCA	12.37:g.2062354_2062356dupTGG	ENSP00000280665:p.His251_His251dup	True	False		Somatic	2				DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000541700.1_5'UTR	p.125_126insH			WXS	Illumina HiSeq	Phase_I	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		4	435_436	-			251					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	In_Frame_Ins	INS	ENST00000280665.6	37	c.377_378insCCA	CCDS31727.1																																																																																				0.550	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	0	NM_152640		12:2062350
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
STAT3	6774	broad.mit.edu	37	17	40489864	40489864	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr17:40489864delG	ENST00000264657.5	-	7	874	c.562delC	c.(562-564)ctgfs	p.L188fs	STAT3_ENST00000588969.1_Frame_Shift_Del_p.L188fs|STAT3_ENST00000389272.3_Frame_Shift_Del_p.L90fs|STAT3_ENST00000585517.1_Frame_Shift_Del_p.L188fs|STAT3_ENST00000404395.3_Frame_Shift_Del_p.L188fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	188					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTTCCATTCAGATCTTGCATG	0.517									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(562-564)ctgfs		signal transducer and activator of transcription 3 (acute-phase response factor)							87.0	74.0	79.0					17																	40489864		2203	4300	6503	SO:0001589	frameshift_variant	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40489864delG	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.562delC	17.37:g.40489864delG	ENSP00000264657:p.Leu188fs	False	False		Somatic	1				STAT3_ENST00000588969.1_Frame_Shift_Del_p.L188fs|STAT3_ENST00000389272.3_Frame_Shift_Del_p.L90fs|STAT3_ENST00000404395.3_Frame_Shift_Del_p.L188fs|STAT3_ENST00000585517.1_Frame_Shift_Del_p.L188fs	p.L188fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	WXS	Illumina HiSeq	Phase_I	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	7	874	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	188					A8K7B8|K7ENL3|O14916|Q9BW54	Frame_Shift_Del	DEL	ENST00000264657.5	37	c.562delC	CCDS32656.1																																																																																				0.517	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	0	NM_139276, NM_003150		17:40489864
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(61-66)gcggca>gca		insulin receptor substrate 4																																				SO:0001651	inframe_deletion	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979510_107979512delGCC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.63_65delGGC	X.37:g.107979513_107979515delGCC	ENSP00000361202:p.Ala25del	True	False		Somatic	2					p.21_22AA>A	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	139_141	-			21			Poly-Ala.			In_Frame_Del	DEL	ENST00000372129.2	37	c.63_65delGGC	CCDS14544.1																																																																																				0.616	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107979510
GPR50	9248	broad.mit.edu	37	X	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-	rs377556761|rs199797606|rs68058591|rs200787393		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	CACCACTGGCCA	CACCACTGGCCA	-	-	CACCACTGGCCA	CACCACTGGCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8647286, ECO:0000269|Ref.2}.		cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608																																						ENST00000218316.3		NA																	1	Deletion - In frame(1)	p.T502_H505delTTGH(1)	ovary(1)	breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1501-1515)cccaccactggccac>ccc		G protein-coupled receptor 50				1488,2015		315,617,241,554,290						2.6	0.0		dbSNP_130	100	2487,3842		404,1011,668,899,1033	no	coding	GPR50	NM_004224.3		719,1628,909,1453,1323	A1A1,A1R,A1,RR,R		39.2953,42.4779,40.4292				3975,5857				SO:0001651	inframe_deletion	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349558_150349569delCACCACTGGCCA	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1503_1514delCACCACTGGCCA	X.37:g.150349558_150349569delCACCACTGGCCA	ENSP00000218316:p.Thr502_His505del	False	False		Somatic	1					p.TTGH502del	NM_004224.3	NP_004215.2	WXS	Illumina HiSeq	Phase_I	Q13585	MTR1L_HUMAN			2	1572_1583	+	Acute lymphoblastic leukemia(192;6.56e-05)		502		Missing (lower fasting circulating triglyceride levels).	Pro-rich.		Q0VGG3|Q3ZAR0	In_Frame_Del	DEL	ENST00000218316.3	37	c.1503_1514delCACCACTGGCCA	CCDS44012.1																																																																																				0.608	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	0	NM_004224		X:150349558
OR2T4	127074	broad.mit.edu	37	1	248525639	248525639	+	Frame_Shift_Del	DEL	A	A	-	rs34079073|rs76878172	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:248525639delA	ENST00000366475.1	+	1	757	c.757delA	c.(757-759)atcfs	p.I253fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						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(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CTATTTACTCATCCTCCTCAC	0.522													a|A|-|deletion	2010	0.401358	0.3389	0.4452	5008	,	,		21944	0.3393		0.4811	False		,,,				2504	0.4366					ENST00000366475.1		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(757-759)atcfs		olfactory receptor, family 2, subfamily T, member 4				1560,2706		284,992,857	94.0	74.0	81.0			-2.8	0.0	1	dbSNP_126	132	4448,3806		1199,2050,878	no	frameshift	OR2T4	NM_001004696.1		1483,3042,1735	A1A1,A1R,RR		46.111,36.5682,47.9872			248525639	6008,6512	2024	3426	5450	SO:0001589	frameshift_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525639delA	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.757delA	1.37:g.248525639delA	ENSP00000355431:p.Ile253fs	False	False		Somatic	1					p.I253fs	NM_001004696.1	NP_001004696.1	WXS	Illumina HiSeq	Phase_I	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	757	+	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)		253					Q6IEZ8	Frame_Shift_Del	DEL	ENST00000366475.1	37	c.757delA	CCDS31113.1																																																																																				0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	0	NM_001004696		1:248525639
CCDC93	54520	broad.mit.edu	37	2	118705727	118705727	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr2:118705727delT	ENST00000376300.2	-	15	1315	c.1178delA	c.(1177-1179)aatfs	p.N393fs	CCDC93_ENST00000319432.5_Frame_Shift_Del_p.N392fs	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	393										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CAGATTTTCATTCATGGCTAC	0.373																																						ENST00000376300.2		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(1177-1179)aatfs		coiled-coil domain containing 93							229.0	228.0	228.0					2																	118705727		2203	4300	6503	SO:0001589	frameshift_variant	54520							g.chr2:118705727delT	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1178delA	2.37:g.118705727delT	ENSP00000365477:p.Asn393fs	True	False		Somatic	2				CCDC93_ENST00000319432.5_Frame_Shift_Del_p.N392fs	p.N393fs	NM_019044.4	NP_061917.3	WXS	Illumina HiSeq	Phase_I	Q567U6	CCD93_HUMAN			15	1315	-			393					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Frame_Shift_Del	DEL	ENST00000376300.2	37	c.1178delA	CCDS2121.2																																																																																				0.373	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	0	NM_019044		2:118705727
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
P2RY13	53829	broad.mit.edu	37	3	151045999	151046002	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	TGAC	TGAC	-	-	TGAC	TGAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr3:151045999_151046002delTGAC	ENST00000325602.5	-	2	861_864	c.842_845delGTCA	c.(841-846)agtcaafs	p.SQ281fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	281					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATTGTTGGTTTGACTGTGAGTATA	0.368																																						ENST00000325602.5		NA																	0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(841-846)agtcaafs		purinergic receptor P2Y, G-protein coupled, 13																																				SO:0001589	frameshift_variant	53829					integral to membrane|plasma membrane		g.chr3:151045999_151046002delTGAC	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.842_845delGTCA	3.37:g.151045999_151046002delTGAC	ENSP00000320376:p.Ser281fs	False	False		Somatic	1				MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	p.SQ281fs	NM_176894.2	NP_795713.2	WXS	Illumina HiSeq	Phase_I	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	861_864	-			281					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Frame_Shift_Del	DEL	ENST00000325602.5	37	c.842_845delGTCA	CCDS3158.2																																																																																				0.368	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	0	NM_023914		3:151045999
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
CLIC1	1192	broad.mit.edu	37	6	31704066	31704068	+	In_Frame_Del	DEL	TTC	TTC	-	rs147567766	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:31704066_31704068delTTC	ENST00000375780.2	-	2	582_584	c.10_12delGAA	c.(10-12)gaadel	p.E4del	CLIC1_ENST00000375784.3_In_Frame_Del_p.E4del|CLIC1_ENST00000375779.2_In_Frame_Del_p.E4del|CLIC1_ENST00000395892.1_In_Frame_Del_p.E4del			O00299	CLIC1_HUMAN	chloride intracellular channel 1	4	Required for insertion into the membrane.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E4E(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CCTGCGGTTGTTCTTCAGCCATG	0.596														139	0.0277556	0.0023	0.0159	5008	,	,		17185	0.0675		0.0457	False		,,,				2504	0.0112					ENST00000375780.2		NA																	1	Substitution - coding silent(1)	p.E4E(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(10-12)gaadel		chloride intracellular channel 1				32,3594		0,32,1781						4.5	1.0		dbSNP_131	121	286,7080		24,238,3421	no	coding	CLIC1	NM_001288.4		24,270,5202	A1A1,A1R,RR		3.8827,0.8825,2.893				318,10674				SO:0001651	inframe_deletion	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31704066_31704068delTTC	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.10_12delGAA	6.37:g.31704069_31704071delTTC	ENSP00000364935:p.Glu4del	False	False		Somatic	2				CLIC1_ENST00000375779.2_In_Frame_Del_p.E4del|CLIC1_ENST00000395892.1_In_Frame_Del_p.E4del|CLIC1_ENST00000375784.3_In_Frame_Del_p.E4del	p.E4del			WXS	Illumina HiSeq	Phase_I	O00299	CLIC1_HUMAN			2	582_584	-			4			Required for insertion into the membrane.		Q15089|Q502X1	In_Frame_Del	DEL	ENST00000375780.2	37	c.10_12delGAA	CCDS4719.1																																																																																				0.596	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	0	NM_001288		6:31704066
PRSS3P2	154754	broad.mit.edu	37	7	142478881	142478882	+	RNA	INS	-	-	AG			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr7:142478881_142478882insAG	ENST00000603901.1	+	0	40					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GAGCTGCTGGTGAGTTTCATGC	0.554																																						ENST00000603901.1		NA																	0					NA																																														0							g.chr7:142478881_142478882insAG			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142478881_142478882insAG		False	False		Somatic	0						NR_001296.3		WXS	Illumina HiSeq	Phase_I					0	40	+			NA						RNA	INS	ENST00000603901.1	37																																																																																						0.554	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	0	NR_001296		7:142478881
CCAR2	57805	broad.mit.edu	37	8	22476436	22476437	+	Frame_Shift_Del	DEL	TT	TT	-	rs201278118		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr8:22476436_22476437delTT	ENST00000308511.4	+	19	2678_2679	c.2429_2430delTT	c.(2428-2430)attfs	p.I810fs	CCAR2_ENST00000389279.3_Frame_Shift_Del_p.I810fs|CCAR2_ENST00000520861.1_Frame_Shift_Del_p.I485fs|BIN3_ENST00000519335.1_5'Flank|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	810	Interaction with NR1D1. {ECO:0000269|PubMed:23398316}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GGCAGCCTGATTAACGTGGGGA	0.619																																						ENST00000308511.4		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(2428-2430)attfs																																						SO:0001589	frameshift_variant	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22476436_22476437delTT	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2429_2430delTT	8.37:g.22476436_22476437delTT	ENSP00000310670:p.Ile810fs	False	False		Somatic	2				KIAA1967_ENST00000520861.1_Frame_Shift_Del_p.I485fs|KIAA1967_ENST00000389279.3_Frame_Shift_Del_p.I810fs	p.I810fs			WXS	Illumina HiSeq	Phase_I	Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	19	2678_2679	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	810					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Frame_Shift_Del	DEL	ENST00000308511.4	37	c.2429_2430delTT	CCDS34863.1																																																																																				0.619	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	0	NM_021174		8:22476436
PADI1	29943	broad.mit.edu	37	1	17570638	17570638	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:17570638A>T	ENST00000375471.4	+	16	1984	c.1892A>T	c.(1891-1893)gAt>gTt	p.D631V	PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Missense_Mutation_p.D146V|PADI1_ENST00000536552.1_Missense_Mutation_p.D102V|PADI1_ENST00000537499.1_Missense_Mutation_p.D188V	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	631					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ATCTTCATTGATGACTACTTG	0.592																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4		NA																	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1891-1893)gAt>gTt		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						100.0	91.0	94.0					1																	17570638		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17570638A>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1892A>T	1.37:g.17570638A>T	ENSP00000364620:p.Asp631Val	False	False		Somatic	0				PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Missense_Mutation_p.D102V|PADI1_ENST00000413717.2_Missense_Mutation_p.D146V|PADI1_ENST00000537499.1_Missense_Mutation_p.D188V	p.D631V	NM_013358.2	NP_037490.2	WXS	Illumina HiSeq	Phase_I	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	16	1984	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	631					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1892A>T	CCDS178.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601209	0.66445	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717;ENST00000536552	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.19	5.19	0.71726	Protein-arginine deiminase, C-terminal (1);	0.055229	0.64402	D	0.000001	T	0.62221	0.2410	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.71283	-0.4639	10	0.87932	D	0	-21.0955	13.8958	0.63770	1.0:0.0:0.0:0.0	.	146;631	B4DPX6;Q9ULC6	.;PADI1_HUMAN	V	631;188;146;102	ENSP00000364620:D631V;ENSP00000444032:D188V;ENSP00000396697:D146V;ENSP00000444833:D102V	ENSP00000364620:D631V	D	+	2	0	PADI1	17443225	1.000000	0.71417	0.832000	0.32986	0.445000	0.32107	9.063000	0.93927	1.965000	0.57142	0.459000	0.35465	GAT		0.592	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	0	NM_013358		1:17570638
RBM15	64783	broad.mit.edu	37	1	110883698	110883698	+	Silent	SNP	A	A	C			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:110883698A>C	ENST00000369784.3	+	1	2571	c.1671A>C	c.(1669-1671)gcA>gcC	p.A557A	RBM15_ENST00000602849.1_Silent_p.A557A|RBM15_ENST00000487146.2_Silent_p.A557A|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	557					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GACATCGGGCACCAGACCCTT	0.532			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3		NA		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(1669-1671)gcA>gcC		RNA binding motif protein 15							60.0	55.0	57.0					1																	110883698		2203	4300	6503	SO:0001819	synonymous_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110883698A>C	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1671A>C	1.37:g.110883698A>C		False	False		Somatic	0				RBM15_ENST00000487146.2_Silent_p.A557A|RBM15_ENST00000602849.1_Silent_p.A557A	p.A557A	NM_022768.4	NP_073605.4	WXS	Illumina HiSeq	Phase_I	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	2571	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	557					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	c.1671A>C	CCDS822.1																																																																																				0.532	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	0	NM_022768		1:110883698
PI4KAP1	728233	broad.mit.edu	37	22	20386816	20386816	+	RNA	SNP	A	A	G			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr22:20386816A>G	ENST00000430523.3	-	0	1696					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												GTTTTCTTGGAGACAGTGATG	0.597																																						ENST00000430523.3		NA																	0					NA																																														0							g.chr22:20386816A>G			22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20386816A>G		False	False		Somatic	0						NR_003563.1		WXS	Illumina HiSeq	Phase_I					0	1696	-			NA						RNA	SNP	ENST00000430523.3	37																																																																																						0.597	PI4KAP1-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319534.5	0			22:20386816
FAT3	120114	broad.mit.edu	37	11	92533399	92533399	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:92533399C>T	ENST00000298047.6	+	9	7237	c.7220C>T	c.(7219-7221)gCc>gTc	p.A2407V	FAT3_ENST00000525166.1_Missense_Mutation_p.A2257V|FAT3_ENST00000409404.2_Missense_Mutation_p.A2407V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2407	Cadherin 22. {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)			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)				AGTGAATTAGCCCCCCGGGGC	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6		NA																	0				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.(7219-7221)gCc>gTc		FAT atypical cadherin 3							85.0	86.0	86.0					11																	92533399		1825	4078	5903	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533399C>T	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.7220C>T	11.37:g.92533399C>T	ENSP00000298047:p.Ala2407Val	True	False	TCGA Ovarian(4;0.039)	Somatic	0				FAT3_ENST00000525166.1_Missense_Mutation_p.A2257V|FAT3_ENST00000409404.2_Missense_Mutation_p.A2407V	p.A2407V			WXS	Illumina HiSeq	Phase_I	Q8TDW7	FAT3_HUMAN			9	7237	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2407			Cadherin 22.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7220C>T		.	.	.	.	.	.	.	.	.	.	C	21.9	4.220431	0.79464	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.55588	0.51;0.51;0.51	5.86	5.86	0.93980	.	.	.	.	.	T	0.74283	0.3696	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72404	-0.4304	9	0.45353	T	0.12	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	2407	Q8TDW7-3	.	V	2407;2407;2257	ENSP00000298047:A2407V;ENSP00000387040:A2407V;ENSP00000432586:A2257V	ENSP00000298047:A2407V	A	+	2	0	FAT3	92173047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.778000	0.95560	0.655000	0.94253	GCC		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_001008781		11:92533399
PSD	5662	broad.mit.edu	37	10	104170669	104170669	+	Silent	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr10:104170669G>A	ENST00000020673.5	-	10	2563	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	PSD_ENST00000406432.1_Silent_p.I679I	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	679	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCAGGTTCCCGATGAAGTCCC	0.632																																						ENST00000020673.5		NA																	0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2035-2037)atC>atT		pleckstrin and Sec7 domain containing							74.0	76.0	75.0					10																	104170669		2203	4300	6503	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104170669G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2037C>T	10.37:g.104170669G>A		True	False		Somatic	0				PSD_ENST00000406432.1_Silent_p.I679I	p.I679I	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	WXS	Illumina HiSeq	Phase_I	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	10	2563	-			679			SEC7.		B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.2037C>T	CCDS31272.1																																																																																				0.632	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2	0			10:104170669
DOT1L	84444	broad.mit.edu	37	19	2210769	2210769	+	Silent	SNP	C	C	T	rs373787443		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr19:2210769C>T	ENST00000398665.3	+	14	1302	c.1266C>T	c.(1264-1266)ccC>ccT	p.P422P	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	422					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CTGCGAACCCCGAGCGGAAGC	0.632																																						ENST00000398665.3		NA																	0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1264-1266)ccC>ccT		DOT1-like histone H3K79 methyltransferase		C		0,4022		0,0,2011	50.0	63.0	59.0		1266	-1.8	0.9	19		59	2,8310		0,2,4154	no	coding-synonymous	DOT1L	NM_032482.2		0,2,6165	TT,TC,CC		0.0241,0.0,0.0162		422/1538	2210769	2,12332	2011	4156	6167	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210769C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1266C>T	19.37:g.2210769C>T		True	False		Somatic	0					p.P422P	NM_032482.2	NP_115871.1	WXS	Illumina HiSeq	Phase_I	Q8TEK3	DOT1L_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)	14	1302	+		Hepatocellular(1079;0.137)	422					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1266C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	9.563	1.119008	0.20877	0.0	2.41E-4	ENSG00000104885	ENST00000440640	T	0.43294	0.95	4.84	-1.75	0.08031	.	0.214680	0.38778	N	0.001567	T	0.40719	0.1128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20806	-1.0264	7	0.44086	T	0.13	-23.3002	6.5387	0.22369	0.0:0.2079:0.1517:0.6404	.	.	.	.	L	209	ENSP00000388276:P209L	ENSP00000388276:P209L	P	+	2	0	DOT1L	2161769	0.013000	0.17824	0.899000	0.35326	0.617000	0.37484	-1.172000	0.03112	-0.107000	0.12088	0.561000	0.74099	CCG		0.632	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	0	NM_032482		19:2210769
ZNF284	342909	broad.mit.edu	37	19	44590411	44590411	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr19:44590411T>G	ENST00000421176.3	+	5	996	c.780T>G	c.(778-780)atT>atG	p.I260M	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AACCTCATATTTGTGAGGAAT	0.408																																						ENST00000421176.3		NA																	0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(778-780)atT>atG		zinc finger protein 284							74.0	81.0	79.0					19																	44590411		2185	4288	6473	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44590411T>G	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.780T>G	19.37:g.44590411T>G	ENSP00000411032:p.Ile260Met	True	False		Somatic	0				ZNF223_ENST00000591793.1_3'UTR	p.I260M	NM_001037813.2	NP_001032902.1	WXS	Illumina HiSeq	Phase_I	Q2VY69	ZN284_HUMAN			5	996	+		Prostate(69;0.0435)	260					Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.780T>G	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	t	12.86	2.064710	0.36470	.	.	ENSG00000186026	ENST00000421176	T	0.17528	2.27	2.59	-5.18	0.02840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	N	0.26162	0.8	0.09310	N	1	P	0.52463	0.953	P	0.50860	0.652	T	0.13098	-1.0522	9	0.72032	D	0.01	.	4.1304	0.10146	0.4782:0.0:0.2078:0.3139	.	260	Q2VY69	ZN284_HUMAN	M	260	ENSP00000411032:I260M	ENSP00000411032:I260M	I	+	3	3	ZNF284	49282251	0.000000	0.05858	0.004000	0.12327	0.189000	0.23516	-4.639000	0.00205	-0.871000	0.04042	0.379000	0.24179	ATT		0.408	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	0	NM_001037813		19:44590411
ACSM2A	123876	broad.mit.edu	37	16	20491925	20491925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr16:20491925C>T	ENST00000573854.1	+	11	1426	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R359*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R210*	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	438					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAACATTCGAGGAGACTT	0.512																																						ENST00000573854.1		NA																	0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1312-1314)Cga>Tga		acyl-CoA synthetase medium-chain family member 2A							116.0	93.0	101.0					16																	20491925		2203	4298	6501	SO:0001587	stop_gained	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20491925C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1312C>T	16.37:g.20491925C>T	ENSP00000459451:p.Arg438*	False	False		Somatic	0				ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R359*|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R210*|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R438*	p.R438*	NM_001010845.2	NP_001010845	WXS	Illumina HiSeq	Phase_I	Q08AH3	ACS2A_HUMAN			11	1426	+			438					B3KTT9|O75202	Nonsense_Mutation	SNP	ENST00000573854.1	37	c.1312C>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	39	7.630041	0.98399	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	.	.	.	3.22	2.21	0.28008	.	0.490322	0.14929	N	0.290162	.	.	.	.	.	.	0.32100	N	0.590723	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3051	6.6302	0.22853	0.1786:0.7175:0.0:0.1039	.	.	.	.	X	359;438;210;438	.	ENSP00000219054:R438X	R	+	1	2	ACSM2A	20399426	0.004000	0.15560	0.806000	0.32338	0.843000	0.47879	0.146000	0.16180	0.422000	0.26005	0.298000	0.19748	CGA		0.512	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	0	NM_001010845		16:20491925
CDK5RAP2	55755	broad.mit.edu	37	9	123253652	123253652	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr9:123253652A>C	ENST00000349780.4	-	13	1594	c.1415T>G	c.(1414-1416)tTg>tGg	p.L472W	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.L472W	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	472					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTGATTGTGCAATTTTTTATT	0.318																																						ENST00000349780.4		NA																	0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1414-1416)tTg>tGg		CDK5 regulatory subunit associated protein 2							205.0	182.0	189.0					9																	123253652		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123253652A>C	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1415T>G	9.37:g.123253652A>C	ENSP00000343818:p.Leu472Trp	False	False		Somatic	0				CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.L472W	p.L472W	NM_018249.4	NP_060719.4	WXS	Illumina HiSeq	Phase_I	Q96SN8	CK5P2_HUMAN			13	1594	-			472					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1415T>G	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768643	0.31320	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.76	4.59	0.56863	.	0.528460	0.15845	N	0.241808	T	0.64778	0.2629	M	0.66939	2.045	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.68943	0.961;0.961;0.944;0.915	T	0.56998	-0.7886	10	0.66056	D	0.02	.	11.7091	0.51614	0.8524:0.1476:0.0:0.0	.	273;472;472;472	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	W	472;472;472;472;474	ENSP00000354065:L472W;ENSP00000352258:L472W;ENSP00000343818:L472W;ENSP00000353317:L472W	ENSP00000341695:L474W	L	-	2	0	CDK5RAP2	122293473	0.059000	0.20769	0.001000	0.08648	0.030000	0.12068	3.122000	0.50446	0.969000	0.38237	0.528000	0.53228	TTG		0.318	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	0	NM_018249		9:123253652
ADAMTS12	81792	broad.mit.edu	37	5	33616037	33616038	+	Nonsense_Mutation	DNP	TC	TC	GT			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T|C	T|C	-	-	T|C	T|C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:33616037_33616038TC>GT	ENST00000504830.1	-	15	2618_2619	c.2283_2284GA>AC	c.(2281-2286)tgGAac>tgACac	p.761_762WN>*H	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.676_677WN>*H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	761	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W761*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTTCCCGTTCCACTGGATAA	0.465										HNSCC(64;0.19)																												ENST00000504830.1		NA																	1	Substitution - Nonsense(1)	|p.W761*(1)	large_intestine(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(2284-2286)Aac>Cac|c.(2281-2283)tgG>tgA		ADAM metallopeptidase with thrombospondin type 1 motif, 12																																				SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33616037T>G|g.chr5:33616038C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2283_2284delinsGT	5.37:g.33616037_33616038delinsGT	ENSP00000422554:p.W761_N762delins*H	False	False	HNSCC(64;0.19)	Somatic	0				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N677H|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W676*	p.N762H|p.W761*	NM_030955.2	NP_112217.2	WXS	Illumina HiSeq	Phase_I	P58397	ATS12_HUMAN			15	2619|2618	-			762|761			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000504830.1	37	c.2284A>C|c.2283G>A	CCDS34140.1																																																																																				0.465	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	0	NM_030955		5:33616037|5:33616038
DMAP1	55929	broad.mit.edu	37	1	44680450	44680450	+	Silent	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:44680450G>A	ENST00000372289.2	+	3	536	c.273G>A	c.(271-273)aaG>aaA	p.K91K	DMAP1_ENST00000361745.6_Silent_p.K91K|DMAP1_ENST00000315913.5_Silent_p.K91K	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	91					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GCTCCAAGAAGGTGCGGCCTT	0.612																																						ENST00000372289.2		NA																	0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(271-273)aaG>aaA		DNA methyltransferase 1 associated protein 1							93.0	82.0	86.0					1																	44680450		2203	4300	6503	SO:0001819	synonymous_variant	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44680450G>A	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.273G>A	1.37:g.44680450G>A		False	False		Somatic	0				DMAP1_ENST00000361745.6_Silent_p.K91K|DMAP1_ENST00000315913.5_Silent_p.K91K	p.K91K	NM_019100.4	NP_061973.1	WXS	Illumina HiSeq	Phase_I	Q9NPF5	DMAP1_HUMAN			3	536	+	Acute lymphoblastic leukemia(166;0.155)		91					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	c.273G>A	CCDS509.1																																																																																				0.612	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	0	NM_019100		1:44680450
NAA40	79829	broad.mit.edu	37	11	63720021	63720021	+	Missense_Mutation	SNP	G	G	A	rs560814398	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:63720021G>A	ENST00000377793.4	+	5	495	c.394G>A	c.(394-396)Gat>Aat	p.D132N	NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000542163.1_Missense_Mutation_p.D111N|NAA40_ENST00000456907.2_Missense_Mutation_p.D92N|NAA40_ENST00000539656.1_Intron	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	132	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GGAGTGTGGGGATGAAGTCCT	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		21258	0.0		0.0	False		,,,				2504	0.002					ENST00000377793.4		NA																	0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(394-396)Gat>Aat		N(alpha)-acetyltransferase 40, NatD catalytic subunit							155.0	132.0	140.0					11																	63720021		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63720021G>A	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.394G>A	11.37:g.63720021G>A	ENSP00000367024:p.Asp132Asn	True	False		Somatic	0				NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000542163.1_Missense_Mutation_p.D111N|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000456907.2_Missense_Mutation_p.D92N	p.D132N	NM_024771.2	NP_079047.2	WXS	Illumina HiSeq	Phase_I	Q86UY6	NAA40_HUMAN			5	495	+			132			N-acetyltransferase.		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.394G>A	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219701	0.95139	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.21932	1.98;1.98;1.98	5.63	5.63	0.86233	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.044312	0.85682	D	0.000000	T	0.31358	0.0794	L	0.45422	1.42	0.80722	D	1	P;P	0.52577	0.954;0.922	P;P	0.54060	0.741;0.697	T	0.00896	-1.1523	10	0.18276	T	0.48	-14.1974	18.432	0.90628	0.0:0.0:1.0:0.0	.	92;132	B4DU10;Q86UY6	.;NAA40_HUMAN	N	132;92;111	ENSP00000367024:D132N;ENSP00000407578:D92N;ENSP00000442055:D111N	ENSP00000367024:D132N	D	+	1	0	NAA40	63476597	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.514000	0.98013	2.645000	0.89757	0.484000	0.47621	GAT		0.582	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	0	NM_024771		11:63720021
CPNE6	9362	broad.mit.edu	37	14	24546432	24546432	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr14:24546432G>A	ENST00000397016.2	+	16	1680	c.1369G>A	c.(1369-1371)Gtg>Atg	p.V457M	CPNE6_ENST00000537691.1_Missense_Mutation_p.V512M|CPNE6_ENST00000216775.2_Missense_Mutation_p.V457M	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	457	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CACTGCTATCGTGCGTGCCTC	0.617																																						ENST00000397016.2		NA																	0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(1369-1371)Gtg>Atg		copine VI (neuronal)							119.0	98.0	105.0					14																	24546432		2203	4300	6503	SO:0001583	missense	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24546432G>A	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1369G>A	14.37:g.24546432G>A	ENSP00000380211:p.Val457Met	True	False		Somatic	0				CPNE6_ENST00000537691.1_Missense_Mutation_p.V512M|CPNE6_ENST00000216775.2_Missense_Mutation_p.V457M	p.V457M	NM_001280558.1	NP_001267487.1	WXS	Illumina HiSeq	Phase_I	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	16	1680	+			457			VWFA.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.1369G>A	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569874	0.65765	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.31247	1.5;1.5;1.5	5.06	5.06	0.68205	von Willebrand factor, type A (2);Copine (1);	0.000000	0.48286	D	0.000197	T	0.66127	0.2758	M	0.93507	3.425	0.51233	D	0.999918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	T	0.76454	-0.2953	10	0.87932	D	0	-12.3339	15.9207	0.79570	0.0:0.0:1.0:0.0	.	512;282;457	F5GXN1;B3KWK1;O95741	.;.;CPNE6_HUMAN	M	512;457;457	ENSP00000440077:V512M;ENSP00000380211:V457M;ENSP00000216775:V457M	ENSP00000216775:V457M	V	+	1	0	CPNE6	23616272	1.000000	0.71417	0.991000	0.47740	0.208000	0.24298	8.019000	0.88732	2.347000	0.79759	0.467000	0.42956	GTG		0.617	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5	0			14:24546432
HS6ST2	90161	broad.mit.edu	37	X	131762528	131762528	+	Missense_Mutation	SNP	C	C	T	rs192014750		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:131762528C>T	ENST00000370836.2	-	4	1956	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	HS6ST2_ENST00000521489.1_Missense_Mutation_p.R554H|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R408H|HS6ST2_ENST00000406696.3_Missense_Mutation_p.R240H	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	514					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGTTCCTGACGCTTTCGCCT	0.483													C|||	2	0.000529801	0.0	0.0	3775	,	,		15036	0.002		0.0	False		,,,				2504	0.0					ENST00000370836.2		NA																	0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1540-1542)cGt>cAt		heparan sulfate 6-O-sulfotransferase 2							108.0	105.0	106.0					X																	131762528		1974	4127	6101	SO:0001583	missense	90161					integral to membrane	sulfotransferase activity	g.chrX:131762528C>T	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1541G>A	X.37:g.131762528C>T	ENSP00000359873:p.Arg514His	False	False		Somatic	0				HS6ST2_ENST00000406696.3_Missense_Mutation_p.R240H|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R554H|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R408H	p.R514H	NM_147175.3	NP_671704.3	WXS	Illumina HiSeq	Phase_I	Q96MM7	H6ST2_HUMAN			4	1956	-	Acute lymphoblastic leukemia(192;0.000127)		514					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	37	c.1541G>A	CCDS48169.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.93	3.508910	0.64410	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	T;T;T;T;T	0.81330	-1.4;-0.86;-0.77;-1.48;-1.25	6.01	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.54323	1.7	0.45899	D	0.998743	P;P;B	0.43231	0.801;0.801;0.019	B;B;B	0.27500	0.08;0.08;0.004	T	0.69960	-0.5003	10	0.72032	D	0.01	-3.7585	10.293	0.43608	0.0:0.7937:0.1322:0.0742	.	514;554;240	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	H	368;514;554;240;408	ENSP00000359874:R368H;ENSP00000359873:R514H;ENSP00000429473:R554H;ENSP00000384013:R240H;ENSP00000359870:R408H	ENSP00000359870:R408H	R	-	2	0	HS6ST2	131590209	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.070000	0.71220	0.665000	0.31066	0.594000	0.82650	CGT		0.483	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	0	NM_147174		X:131762528
ZNF532	55205	broad.mit.edu	37	18	56586416	56586416	+	Silent	SNP	G	G	A	rs368482208		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr18:56586416G>A	ENST00000336078.4	+	4	1673	c.897G>A	c.(895-897)ccG>ccA	p.P299P	ZNF532_ENST00000591808.1_Silent_p.P299P|ZNF532_ENST00000591083.1_Silent_p.P299P|ZNF532_ENST00000589288.1_Silent_p.P299P|ZNF532_ENST00000591230.1_Silent_p.P299P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATCCTCCCCGTTACCAAAAG	0.542													g|||	1	0.000199681	0.0	0.0	5008	,	,		17415	0.0		0.0	False		,,,				2504	0.001					ENST00000336078.4		NA																	0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(895-897)ccG>ccA		zinc finger protein 532		G		1,4405	2.1+/-5.4	0,1,2202	81.0	82.0	82.0		897	-9.9	0.1	18		82	0,8598		0,0,4299	no	coding-synonymous	ZNF532	NM_018181.4		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		299/1302	56586416	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586416G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.897G>A	18.37:g.56586416G>A		True	False		Somatic	0				ZNF532_ENST00000591083.1_Silent_p.P299P|ZNF532_ENST00000589288.1_Silent_p.P299P|ZNF532_ENST00000591808.1_Silent_p.P299P|ZNF532_ENST00000591230.1_Silent_p.P299P	p.P299P	NM_018181.4	NP_060651.2	WXS	Illumina HiSeq	Phase_I	Q9HCE3	ZN532_HUMAN			4	1673	+			299					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.897G>A	CCDS11969.1																																																																																				0.542	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	0	NM_018181		18:56586416
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000449733.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000341272.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697																																						ENST00000373818.4		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e1+2		gelsolin							22.0	24.0	23.0					9																	124062285		1599	3598	5197	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124062285T>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+2T>G	9.37:g.124062285T>G		True	False		Somatic	0				GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron		NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	WXS	Illumina HiSeq	Phase_I	P06396	GELS_HUMAN			1	213	+			NA					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37		CCDS6828.1																																																																																				0.697	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	0	NM_000177	Intron	9:124062285
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1		NA																	9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg	False	False		Somatic	0				ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R	p.H1411R			WXS	Illumina HiSeq	Phase_I					63	4316	-			NA					C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	0	NM_001010914		2:96521777
BRINP3	339479	broad.mit.edu	37	1	190067264	190067264	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:190067264G>A	ENST00000367462.3	-	8	2416	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R627C	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	729					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AGTCTATGACGAAGCAAGCAA	0.463																																						ENST00000367462.3		NA																	0					NA						c.(2185-2187)Cgt>Tgt		bone morphogenetic protein/retinoic acid inducible neural-specific 3							116.0	111.0	113.0					1																	190067264		2203	4300	6503	SO:0001583	missense	339479							g.chr1:190067264G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2185C>T	1.37:g.190067264G>A	ENSP00000356432:p.Arg729Cys	True	False		Somatic	0				BRINP3_ENST00000534846.1_Missense_Mutation_p.R627C	p.R729C	NM_199051.1	NP_950252.1	WXS	Illumina HiSeq	Phase_I					8	2416	-			729					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2185C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043770	0.75732	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.23147	2.17;1.92	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.985	T	0.52465	-0.8572	10	0.87932	D	0	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	627;729	B7Z260;Q76B58	.;FAM5C_HUMAN	C	729;627	ENSP00000356432:R729C;ENSP00000438022:R627C	ENSP00000356432:R729C	R	-	1	0	FAM5C	188333887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.799000	0.85936	2.695000	0.91970	0.650000	0.86243	CGT		0.463	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	0	NM_199051		1:190067264
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		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)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	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.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		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.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	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)		2	226	-	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)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
FAM47A	158724	broad.mit.edu	37	X	34149477	34149477	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:34149477C>T	ENST00000346193.3	-	1	970	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	307										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTGGAGTCTCGAAAGGCCGA	0.612																																						ENST00000346193.3		NA																	0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(919-921)Gag>Aag		family with sequence similarity 47, member A							20.0	23.0	22.0					X																	34149477		2195	4297	6492	SO:0001583	missense	158724							g.chrX:34149477C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.919G>A	X.37:g.34149477C>T	ENSP00000345029:p.Glu307Lys	False	False		Somatic	0					p.E307K	NM_203408.3	NP_981953.2	WXS	Illumina HiSeq	Phase_I	Q5JRC9	FA47A_HUMAN			1	970	-			307					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.919G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	9.037	0.988840	0.18966	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	0.13	0.13	0.14746	.	.	.	.	.	T	0.11367	0.0277	L	0.52126	1.63	0.09310	N	1	P	0.49253	0.921	B	0.29353	0.101	T	0.30060	-0.9991	8	0.16896	T	0.51	.	.	.	.	.	307	Q5JRC9	FA47A_HUMAN	K	307	ENSP00000345029:E307K	ENSP00000345029:E307K	E	-	1	0	FAM47A	34059398	0.730000	0.28100	0.064000	0.19789	0.064000	0.16182	0.440000	0.21592	0.171000	0.19730	0.173000	0.16961	GAG		0.612	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	0	NM_203408		X:34149477
ZBTB22	9278	broad.mit.edu	37	6	33284203	33284203	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:33284203G>A	ENST00000431845.2	-	2	642	c.491C>T	c.(490-492)aCc>aTc	p.T164I	TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.T164I|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGTGACAGAGGTGGCTGCAGC	0.642																																						ENST00000431845.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(490-492)aCc>aTc		zinc finger and BTB domain containing 22							73.0	71.0	71.0					6																	33284203		2202	4300	6502	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284203G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.491C>T	6.37:g.33284203G>A	ENSP00000407545:p.Thr164Ile	False	False		Somatic	0				ZBTB22_ENST00000418724.1_Missense_Mutation_p.T164I	p.T164I	NM_005453.4	NP_005444.4	WXS	Illumina HiSeq	Phase_I	O15209	ZBT22_HUMAN			2	642	-			164					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.491C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314965	0.23908	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06142	3.34;3.34	3.53	3.53	0.40419	.	0.500652	0.15013	N	0.285427	T	0.01421	0.0046	N	0.14661	0.345	0.26247	N	0.978772	B	0.26975	0.165	B	0.22601	0.04	T	0.46775	-0.9167	10	0.33141	T	0.24	.	10.8007	0.46487	0.0:0.0:1.0:0.0	.	164	O15209	ZBT22_HUMAN	I	164	ENSP00000404403:T164I;ENSP00000407545:T164I	ENSP00000404403:T164I	T	-	2	0	ZBTB22	33392181	0.997000	0.39634	0.997000	0.53966	0.983000	0.72400	0.435000	0.21510	1.990000	0.58119	0.551000	0.68910	ACC		0.642	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2	0			6:33284203
NRSN1	140767	broad.mit.edu	37	6	24134622	24134622	+	Missense_Mutation	SNP	C	C	T	rs143725119		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:24134622C>T	ENST00000378491.4	+	3	368	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	NRSN1_ENST00000378475.1_Missense_Mutation_p.R23C|NRSN1_ENST00000378478.1_Missense_Mutation_p.R23C	NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGGTTACCAGCGCTATGGAGT	0.517																																						ENST00000378491.4		NA																	0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(67-69)Cgc>Tgc		neurensin 1		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	135.0	122.0	127.0		67	5.8	1.0	6	dbSNP_134	127	0,8600		0,0,4300	yes	missense	NRSN1	NM_080723.4	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	23/196	24134622	2,13004	2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24134622C>T	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.67C>T	6.37:g.24134622C>T	ENSP00000367752:p.Arg23Cys	False	False		Somatic	0				NRSN1_ENST00000378478.1_Missense_Mutation_p.R23C|NRSN1_ENST00000378475.1_Missense_Mutation_p.R23C	p.R23C	NM_080723.4	NP_542454.3	WXS	Illumina HiSeq	Phase_I	Q8IZ57	NRSN1_HUMAN			3	368	+			23						Missense_Mutation	SNP	ENST00000378491.4	37	c.67C>T	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652867	0.88056	4.54E-4	0.0	ENSG00000152954	ENST00000378491;ENST00000378478;ENST00000378477;ENST00000378475	T;T;T	0.18338	2.22;2.22;2.22	5.85	5.85	0.93711	.	0.105826	0.64402	D	0.000003	T	0.27663	0.0680	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.56700	0.804	T	0.01004	-1.1484	10	0.87932	D	0	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	23	Q8IZ57	NRSN1_HUMAN	C	23	ENSP00000367752:R23C;ENSP00000367739:R23C;ENSP00000367736:R23C	ENSP00000367736:R23C	R	+	1	0	NRSN1	24242601	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.736000	0.55052	2.773000	0.95371	0.655000	0.94253	CGC		0.517	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	0	NM_080723		6:24134622
GRM1	2911	broad.mit.edu	37	6	146720262	146720262	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:146720262G>A	ENST00000282753.1	+	7	2322	c.2087G>A	c.(2086-2088)cGg>cAg	p.R696Q	GRM1_ENST00000392299.2_Missense_Mutation_p.R696Q|GRM1_ENST00000355289.4_Missense_Mutation_p.R696Q|GRM1_ENST00000492807.2_Missense_Mutation_p.R696Q|GRM1_ENST00000507907.1_Missense_Mutation_p.R696Q|GRM1_ENST00000361719.2_Missense_Mutation_p.R696Q			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	696			R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ATCTGCACCCGGAAGCCCAGG	0.512																																						ENST00000392299.2		NA																	0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2086-2088)cGg>cAg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						134.0	132.0	133.0					6																	146720262		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720262G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2087G>A	6.37:g.146720262G>A	ENSP00000282753:p.Arg696Gln	True	False		Somatic	0				GRM1_ENST00000507907.1_Missense_Mutation_p.R696Q|GRM1_ENST00000361719.2_Missense_Mutation_p.R696Q|GRM1_ENST00000492807.2_Missense_Mutation_p.R696Q|GRM1_ENST00000282753.1_Missense_Mutation_p.R696Q|GRM1_ENST00000355289.4_Missense_Mutation_p.R696Q	p.R696Q			WXS	Illumina HiSeq	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2557	+		Ovarian(120;0.0387)	696		R -> W (in a colorectal cancer sample; somatic mutation).			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2087G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016814	0.35606	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84647	0.5518	L	0.37850	1.14	0.58432	D	0.999998	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.64321	0.852;0.924;0.852	T	0.80883	-0.1183	10	0.06365	T	0.9	.	19.4081	0.94656	0.0:0.0:1.0:0.0	.	696;696;696	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	Q	696	ENSP00000354896:R696Q;ENSP00000376119:R696Q;ENSP00000424095:R696Q;ENSP00000282753:R696Q;ENSP00000347437:R696Q;ENSP00000425599:R696Q	ENSP00000282753:R696Q	R	+	2	0	GRM1	146761955	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.604000	0.88044	0.585000	0.79938	CGG		0.512	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	0	NM_000838		6:146720262
ATP10B	23120	broad.mit.edu	37	5	160034027	160034027	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:160034027G>A	ENST00000327245.5	-	19	3751	c.2905C>T	c.(2905-2907)Cca>Tca	p.P969S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	969					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGCGGTCTGGCTTCTGTAGT	0.443																																						ENST00000327245.5		NA																	0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2905-2907)Cca>Tca		ATPase, class V, type 10B							106.0	99.0	101.0					5																	160034027		1932	4118	6050	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160034027G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2905C>T	5.37:g.160034027G>A	ENSP00000313600:p.Pro969Ser	False	False		Somatic	0					p.P969S	NM_025153.2	NP_079429.2	WXS	Illumina HiSeq	Phase_I	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	3751	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	969					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2905C>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	7.993	0.753803	0.15778	.	.	ENSG00000118322	ENST00000327245	T	0.05996	3.36	5.05	0.51	0.16983	HAD-like domain (1);	0.350809	0.30742	N	0.008963	T	0.04588	0.0125	L	0.31845	0.965	0.20196	N	0.999925	B	0.30146	0.27	B	0.34931	0.192	T	0.36672	-0.9738	9	.	.	.	.	3.8603	0.08993	0.0801:0.2168:0.4445:0.2586	.	969	O94823	AT10B_HUMAN	S	969	ENSP00000313600:P969S	.	P	-	1	0	ATP10B	159966605	0.572000	0.26668	0.873000	0.34254	0.294000	0.27393	0.461000	0.21940	0.526000	0.28541	-0.302000	0.09304	CCA		0.443	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	0	NM_025153		5:160034027
MOV10L1	54456	broad.mit.edu	37	22	50553049	50553049	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr22:50553049C>T	ENST00000262794.5	+	7	1207	c.1124C>T	c.(1123-1125)cCa>cTa	p.P375L	MOV10L1_ENST00000545383.1_Missense_Mutation_p.P375L|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P375L|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.P355L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	375					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGAATCTCTCCAGGTAGTGGA	0.512																																						ENST00000262794.5		NA																	0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1123-1125)cCa>cTa		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							37.0	42.0	40.0					22																	50553049		2199	4297	6496	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50553049C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1124C>T	22.37:g.50553049C>T	ENSP00000262794:p.Pro375Leu	True	False		Somatic	0				MOV10L1_ENST00000540615.1_Missense_Mutation_p.P355L|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P375L|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P375L	p.P375L	NM_018995.2	NP_061868.1	WXS	Illumina HiSeq	Phase_I	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	7	1207	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	375					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.1124C>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875431	0.33162	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85702	-1.83;-1.83;-1.42;-2.02	6.04	4.84	0.62591	.	0.562070	0.17296	N	0.179461	T	0.80874	0.4707	L	0.54323	1.7	0.80722	D	1	B;P;B;B	0.34724	0.418;0.465;0.335;0.335	B;B;B;B	0.34242	0.075;0.178;0.058;0.08	T	0.75445	-0.3315	10	0.17832	T	0.49	-3.1	13.463	0.61237	0.0:0.9129:0.0:0.0871	.	136;355;375;375	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	L	375;375;375;355	ENSP00000438978:P375L;ENSP00000262794:P375L;ENSP00000379199:P375L;ENSP00000438542:P355L	ENSP00000262794:P375L	P	+	2	0	MOV10L1	48895176	0.715000	0.27946	0.641000	0.29422	0.103000	0.19146	1.020000	0.30027	2.873000	0.98535	0.563000	0.77884	CCA		0.512	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	0	NM_018995		22:50553049
GRIK3	2899	broad.mit.edu	37	1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T	rs569112734		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R361H(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTTCATGAAGCGGCCGCCAAA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18567	0.0		0.0	False		,,,				2504	0.001					ENST00000373091.3		NA																	2	Substitution - Missense(2)	p.R361H(2)	prostate(1)|lung(1)	breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1081-1083)cGc>cAc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						77.0	81.0	80.0					1																	37324731		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37324731C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1082G>A	1.37:g.37324731C>T	ENSP00000362183:p.Arg361His	False	False		Somatic	0				GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H|GRIK3_ENST00000462621.1_5'UTR	p.R361H	NM_000831.3	NP_000822.2	WXS	Illumina HiSeq	Phase_I	Q13003	GRIK3_HUMAN			7	1098	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	361					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1082G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578993	0.96565	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83163	-1.69;-1.69	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.71581	2.175	0.80722	D	1	D;D	0.55605	0.972;0.963	P;P	0.55545	0.778;0.703	D	0.88965	0.3396	10	0.54805	T	0.06	.	19.7849	0.96432	0.0:1.0:0.0:0.0	.	361;361	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	361	ENSP00000362183:R361H;ENSP00000362185:R361H	ENSP00000362183:R361H	R	-	2	0	GRIK3	37097318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	2.671000	0.90904	0.650000	0.86243	CGC		0.627	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	0	NM_000831		1:37324731
LINC00303	284573	broad.mit.edu	37	1	204006440	204006440	+	lincRNA	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:204006440C>T	ENST00000367207.3	-	0	580							Q3SY05	CA157_HUMAN	long intergenic non-protein coding RNA 303																		AGTCTCGGGGCGGGGGTATGG	0.522																																						ENST00000367207.3		NA																	0					NA																																														0							g.chr1:204006440C>T	AK097662		1q32.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000176754	ENSG00000176754		"""Long non-coding RNAs"""	26865	non-coding RNA	RNA, long non-coding			"""chromosome 1 open reading frame 157"", ""non-protein coding RNA 303"""	C1orf157, NCRNA00303			Standard	NR_027902		Approved	FLJ40343	uc010pqo.1	Q3SY05	OTTHUMG00000036054		1.37:g.204006440C>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	580	-			NA					Q3SY06|Q8N7U1	RNA	SNP	ENST00000367207.3	37																																																																																						0.522	LINC00303-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087885.3	0	NR_027902		1:204006440
