#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
MUC6	4588	broad.mit.edu	37	11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:1016412_1016414delGAG	ENST00000421673.2	-	31	6437_6439	c.6387_6389delCTC	c.(6385-6390)tcctca>tca	p.2129_2130SS>S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2129	Ser-rich.|Thr-rich.			S -> F (in Ref. 6; BAC04860). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGAAAATGAGGAGGACAGCT	0.522																																						ENST00000421673.2		NA																	1	Deletion - In frame(1)	p.S2130delS(1)	stomach(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6385-6390)tcctca>tca		mucin 6, oligomeric mucus/gel-forming				1,3949		0,1,1974						2.9	0.0			96	0,8040		0,0,4020	no	coding	MUC6	NM_005961.2		0,1,5994	A1A1,A1R,RR		0.0,0.0253,0.0083				1,11989				SO:0001651	inframe_deletion	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016412_1016414delGAG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6387_6389delCTC	11.37:g.1016415_1016417delGAG	ENSP00000406861:p.Ser2130del	False	False		Somatic	2					p.2129_2130SS>S	NM_005961.2	NP_005952.2	WXS	Illumina HiSeq	Phase_I	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6437_6439	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2129	S -> F (in Ref. 6; BAC04860).		Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	ENST00000421673.2	37	c.6387_6389delCTC	CCDS44513.1																																																																																				0.522	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	0	XM_290540		11:1016412
PZP	5858	broad.mit.edu	37	12	9344794	9344795	+	Frame_Shift_Ins	INS	-	-	TCTGCCTGTGGAGTCAGGAGACAGTGAGATGAAT			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:9344794_9344795insTCTGCCTGTGGAGTCAGGAGACAGTGAGATGAAT	ENST00000261336.2	-	13	1568_1569	c.1540_1541insATTCATCTCACTGTCTCCTGACTCCACAGGCAGA	c.(1540-1542)ggafs	p.G514fs	PZP_ENST00000381997.2_Frame_Shift_Ins_p.G383fs	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	514					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTCACTGTCTCCTGACTCCACA	0.465																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2		NA																	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(1540-1542)ggafs		pregnancy-zone protein																																				SO:0001589	frameshift_variant	5858							g.chr12:9344794_9344795insTCTGCCTGTGGAGTCAGGAGACAGTGAGATGAAT	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1540_1541insATTCATCTCACTGTCTCCTGACTCCACAGGCAGA	12.37:g.9344794_9344795insTCTGCCTGTGGAGTCAGGAGACAGTGAGATGAAT	ENSP00000261336:p.Gly514fs	False	False		Somatic	0				PZP_ENST00000381997.2_Frame_Shift_Ins_p.G383fs	p.G514fs	NM_002864.2	NP_002855.2	WXS	Illumina HiSeq	Phase_I					13	1568_1569	-			NA					A6ND27|Q15273|Q2NKL2|Q7M4N7	Frame_Shift_Ins	INS	ENST00000261336.2	37	c.1540_1541insATTCATCTCACTGTCTCCTGACTCCACAGGCAGA	CCDS8600.1																																																																																				0.465	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	0	NM_002864		12:9344794
DACH1	1602	broad.mit.edu	37	13	72014824	72014825	+	Splice_Site	DEL	TC	TC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:72014824_72014825delTC	ENST00000359684.2	-	12	2245	c.2246delGA	c.(2245-2247)gga>ga	p.G750fs	DACH1_ENST00000313174.7_Splice_Site_p.G550fs|DACH1_ENST00000354591.4_Splice_Site_p.G496fs|DACH1_ENST00000305425.4_Splice_Site_p.G698fs			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	750					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.?(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGTCTTCCATCTAGAAATGAA	0.307																																						ENST00000305425.4		NA																	1	Unknown(1)	p.?(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(2089-2091)gga>ga		dachshund homolog 1 (Drosophila)																																				SO:0001630	splice_region_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72014824_72014825delTC	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2246-1GA>-	13.37:g.72014824_72014825delTC		False	False		Somatic	1				DACH1_ENST00000359684.2_Splice_Site_p.G750fs|DACH1_ENST00000313174.7_Splice_Site_p.G550fs|DACH1_ENST00000354591.4_Splice_Site_p.G496fs	p.G698fs	NM_080759.4	NP_542937.2	WXS	Illumina HiSeq	Phase_I	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	11	2512	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	748			Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Splice_Site	DEL	ENST00000359684.2	37	c.2090delGA																																																																																					0.307	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	0	NM_004392	Frame_Shift_Del	13:72014824
SERPINA1	5265	broad.mit.edu	37	14	94847356	94847357	+	Frame_Shift_Ins	INS	-	-	CCCGGCTTTG	rs8350		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:94847356_94847357insCCCGGCTTTG	ENST00000448921.1	-	5	1340_1341	c.768_769insCAAAGCCGGG	c.(766-771)tgtaagfs	p.K257fs	SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000402629.1_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.K257fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	257					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GACAGCTTCTTACAGTGCTGGA	0.52																																						ENST00000448921.1		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(766-771)tgtaagfs		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)																																			SO:0001589	frameshift_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847356_94847357insCCCGGCTTTG	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.768_769insCAAAGCCGGG	14.37:g.94847356_94847357insCCCGGCTTTG	ENSP00000416066:p.Lys257fs	False	False		Somatic	0				SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000402629.1_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.K257fs	p.K257fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	WXS	Illumina HiSeq	Phase_I	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	5	1340_1341	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	257					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Frame_Shift_Ins	INS	ENST00000448921.1	37	c.768_769insCAAAGCCGGG	CCDS9925.1																																																																																				0.520	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	0	NM_001002235		14:94847356
ZNF830	91603	broad.mit.edu	37	17	33288801	33288802	+	Frame_Shift_Ins	INS	-	-	TTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:33288801_33288802insTTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT	ENST00000361952.3	+	1	253_254	c.216_217insTTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT	c.(217-219)aagfs	p.K73fs	CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	73					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				ACGTCCTGGGAAAGCAGCACCG	0.584																																						ENST00000361952.3		NA																	0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(217-219)aagfs		zinc finger protein 830																																				SO:0001589	frameshift_variant	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33288801_33288802insTTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	Exception_encountered	17.37:g.33288801_33288802insTTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT	ENSP00000354518:p.Lys73fs	True	False		Somatic	0					p.K73fs	NM_052857.3	NP_443089.3	WXS	Illumina HiSeq	Phase_I	Q96NB3	ZN830_HUMAN			1	253_254	+		Ovarian(249;0.17)	73					Q96F60|Q96GZ5|Q9BU38	Frame_Shift_Ins	INS	ENST00000361952.3	37	c.216_217insTTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT	CCDS32618.1																																																																																				0.584	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	0	NM_052857		17:33288801
CD300C	10871	broad.mit.edu	37	17	72541060	72541061	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:72541060_72541061insA	ENST00000330793.1	-	2	447_448	c.87_88insT	c.(85-90)atgaccfs	p.T30fs		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	30	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCCGCCACGGTCATGGGGTGGC	0.569																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(85-90)atgaccfs		CD300c molecule																																				SO:0001589	frameshift_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72541060_72541061insA	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.87_88insT	17.37:g.72541060_72541061insA	ENSP00000329507:p.Thr30fs	False	False		Somatic	0					p.T30fs	NM_006678.3	NP_006669.1	WXS	Illumina HiSeq	Phase_I	Q08708	CLM6_HUMAN			2	447_448	-			30			Ig-like V-type.			Frame_Shift_Ins	INS	ENST00000330793.1	37	c.87_88insT	CCDS11701.1																																																																																				0.569	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	0	NM_006678		17:72541060
CTDP1	9150	broad.mit.edu	37	18	77477911	77477912	+	Frame_Shift_Ins	INS	-	-	GTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:77477911_77477912insGTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC	ENST00000299543.7	+	10	2459_2460	c.2312_2313insGTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC	c.(2311-2316)gttcggfs	p.R772fs	CTDP1_ENST00000075430.7_Frame_Shift_Ins_p.R772fs	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	772					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GGCCCCGAGGTTCGGATCTACG	0.693																																						ENST00000299543.7		NA																	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(2311-2316)gttcggfs		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1																																				SO:0001589	frameshift_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77477911_77477912insGTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	Exception_encountered	18.37:g.77477911_77477912insGTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC	ENSP00000299543:p.Arg772fs	False	False		Somatic	0				CTDP1_ENST00000075430.7_Frame_Shift_Ins_p.R772fs	p.R772fs	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	WXS	Illumina HiSeq	Phase_I	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	10	2459_2460	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	772					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Frame_Shift_Ins	INS	ENST00000299543.7	37	c.2312_2313insGTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC	CCDS12017.1																																																																																				0.693	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	0	NM_004715		18:77477911
POU2F2	5452	broad.mit.edu	37	19	42603967	42603968	+	Frame_Shift_Ins	INS	-	-	GATCCCCCAAAAGATGGGGTAAGTGTCGGAAGAGGGAAGGATCT			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:42603967_42603968insGATCCCCCAAAAGATGGGGTAAGTGTCGGAAGAGGGAAGGATCT	ENST00000526816.2	-	6	324_325	c.309_310insAGATCCTTCCCTCTTCCGACACTTACCCCATCTTTTGGGGGATC	c.(307-312)atacagfs	p.Q104fs	POU2F2_ENST00000389341.5_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q126fs|POU2F2_ENST00000529067.1_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000529952.1_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000342301.4_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000533720.1_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000560558.1_Frame_Shift_Ins_p.Q65fs			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	104					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGGAGCTGCTGTATGTCCTGGC	0.614																																						ENST00000389341.5		NA																	0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(307-312)atacagfs		POU class 2 homeobox 2																																				SO:0001589	frameshift_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42603967_42603968insGATCCCCCAAAAGATGGGGTAAGTGTCGGAAGAGGGAAGGATCT		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.309_310insAGATCCTTCCCTCTTCCGACACTTACCCCATCTTTTGGGGGATC	19.37:g.42603967_42603968insGATCCCCCAAAAGATGGGGTAAGTGTCGGAAGAGGGAAGGATCT	ENSP00000431603:p.Gln104fs	False	False		Somatic	0				POU2F2_ENST00000533720.1_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000342301.4_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000529067.1_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000560558.1_Frame_Shift_Ins_p.Q65fs|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q126fs|POU2F2_ENST00000529952.1_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000526816.2_Frame_Shift_Ins_p.Q104fs	p.Q104fs	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	WXS	Illumina HiSeq	Phase_I	P09086	PO2F2_HUMAN			6	375_376	-		Prostate(69;0.059)	104					Q16648|Q7M4M8|Q9BRS4	Frame_Shift_Ins	INS	ENST00000526816.2	37	c.309_310insAGATCCTTCCCTCTTCCGACACTTACCCCATCTTTTGGGGGATC	CCDS56095.1																																																																																				0.614	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3	0			19:42603967
EMILIN3	90187	broad.mit.edu	37	20	39991236	39991237	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:39991236_39991237insA	ENST00000332312.3	-	4	1164_1165	c.972_973insT	c.(970-975)caaggcfs	p.G325fs		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	325						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTCTGGACGCCTTGCAGCTTCT	0.668																																						ENST00000332312.3		NA																	0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(970-975)caaggcfs		elastin microfibril interfacer 3																																				SO:0001589	frameshift_variant	90187					proteinaceous extracellular matrix		g.chr20:39991236_39991237insA	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.972_973insT	20.37:g.39991236_39991237insA	ENSP00000332806:p.Gly325fs	False	False		Somatic	0					p.G325fs	NM_052846.1	NP_443078.1	WXS	Illumina HiSeq	Phase_I	Q9NT22	EMIL3_HUMAN			4	1164_1165	-		Myeloproliferative disorder(115;0.00425)	325					Q495S5|Q495S6|Q495S7|Q76KT4	Frame_Shift_Ins	INS	ENST00000332312.3	37	c.972_973insT	CCDS13316.1																																																																																				0.668	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	0	XM_029741		20:39991236
ELK1	2002	broad.mit.edu	37	X	47500672	47500673	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	AA	AA	-	-	AA	AA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:47500672_47500673delAA	ENST00000247161.3	-	2	267_268	c.168_169delTT	c.(166-171)aattacfs	p.NY56fs	ELK1_ENST00000376983.3_Frame_Shift_Del_p.NY56fs|ELK1_ENST00000592066.1_Frame_Shift_Del_p.NY2fs|ELK1_ENST00000343894.4_Frame_Shift_Del_p.NY56fs	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	56					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						AGCTTGTCGTAATTCATGTTGG	0.53																																						ENST00000247161.3		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(166-171)aattacfs		ELK1, member of ETS oncogene family																																				SO:0001589	frameshift_variant	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47500672_47500673delAA	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.168_169delTT	X.37:g.47500672_47500673delAA	ENSP00000247161:p.Asn56fs	False	False		Somatic	2				ELK1_ENST00000592066.1_Frame_Shift_Del_p.NY2fs|ELK1_ENST00000343894.4_Frame_Shift_Del_p.NY56fs|ELK1_ENST00000376983.3_Frame_Shift_Del_p.NY56fs	p.NY56fs	NM_005229.4	NP_005220.2	WXS	Illumina HiSeq	Phase_I	P19419	ELK1_HUMAN			2	267_268	-			56					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Frame_Shift_Del	DEL	ENST00000247161.3	37	c.168_169delTT	CCDS14283.1																																																																																				0.530	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	0	NM_005229		X:47500672
DGKK	139189	broad.mit.edu	37	X	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693														4	0.0010596	0.0008	0.0014	3775	,	,		10178	0.0		0.0	False		,,,				2504	0.002					ENST00000376025.2		NA																	0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa				23,2795		5,10,3,1155,475						-3.9	0.0			19	82,5743		22,14,24,2121,1487	no	coding	DGKK	NM_001013742.2		27,24,27,3276,1962	A1A1,A1R,A1,RR,R		1.4077,0.8162,1.2149				105,8538						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213545_50213556delGCGGCGGAGCCG	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213545_50213556delGCGGCGGAGCCG		False	False		Somatic	1								WXS	Illumina HiSeq	Phase_I	Q5KSL6	DGKK_HUMAN			0	181_192	-	Ovarian(276;0.236)		NA					B2RP91	RNA	DEL	ENST00000376025.2	37																																																																																						0.693	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	0	NM_001013742		X:50213545
DHRS3	9249	broad.mit.edu	37	1	12640598	12640599	+	In_Frame_Ins	INS	-	-	AGACGGCCAAGG			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:12640598_12640599insAGACGGCCAAGG	ENST00000376223.2	-	2	674_675	c.291_292insCCTTGGCCGTCT	c.(289-294)gtgggc>gtgCCTTGGCCGTCTggc	p.97_98VG>VPWPSG	DHRS3_ENST00000482265.1_5'UTR	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	97					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCCCGGTTGCCCACATCACAGA	0.579																																						ENST00000376223.2		NA																	0				cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9						c.(289-294)gtgggc>gtgCCTTGGCCGTCTggc		dehydrogenase/reductase (SDR family) member 3	Vitamin A(DB00162)																																			SO:0001652	inframe_insertion	9249				retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	g.chr1:12640598_12640599insAGACGGCCAAGG	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.291_292insCCTTGGCCGTCT	1.37:g.12640598_12640599insAGACGGCCAAGG	ENSP00000365397:p.Val97_Gly98insProTrpProSer	True	False		Somatic	0				DHRS3_ENST00000482265.1_5'UTR	p.97_98VG>VPWPSG	NM_004753.4	NP_004744.2	WXS	Illumina HiSeq	Phase_I	O75911	DHRS3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	2	674_675	-	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	97					B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	In_Frame_Ins	INS	ENST00000376223.2	37	c.291_292insCCTTGGCCGTCT	CCDS146.1																																																																																				0.579	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	0	NM_004753		1:12640598
TGFBRAP1	9392	broad.mit.edu	37	2	105915152	105915153	+	In_Frame_Ins	INS	-	-	TCCTTTCCATAC			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:105915152_105915153insTCCTTTCCATAC	ENST00000393359.2	-	3	1124_1125	c.698_699insGTATGGAAAGGA	c.(697-699)gcc>gcGTATGGAAAGGAc	p.233_234insYGKD	TGFBRAP1_ENST00000258449.1_In_Frame_Ins_p.233_234insYGKD			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	233	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTGCGACTGTGGCAAACATGCC	0.53																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(697-699)gcc>gcGTATGGAAAGGAc		transforming growth factor, beta receptor associated protein 1																																				SO:0001652	inframe_insertion	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105915152_105915153insTCCTTTCCATAC	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.698_699insGTATGGAAAGGA	2.37:g.105915152_105915153insTCCTTTCCATAC	ENSP00000377027:p.Ala233_Thr234insTyrGlyLysAsp	False	False		Somatic	0				TGFBRAP1_ENST00000258449.1_In_Frame_Ins_p.233_234insYGKD	p.233_234insYGKD			WXS	Illumina HiSeq	Phase_I	Q8WUH2	TGFA1_HUMAN			3	1124_1125	-			233			CNH.		A8K5R7|D3DVJ8|O60466	In_Frame_Ins	INS	ENST00000393359.2	37	c.698_699insGTATGGAAAGGA	CCDS2067.1																																																																																				0.530	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	0	NM_004257		2:105915152
SNED1	25992	broad.mit.edu	37	2	241976286	241976287	+	Frame_Shift_Ins	INS	-	-	CTTTCTT			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:241976286_241976287insCTTTCTT	ENST00000310397.8	+	5	885_886	c.885_886insCTTTCTT	c.(886-888)accfs	p.T296fs	SNED1_ENST00000342631.6_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000405547.3_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000401884.1_Frame_Shift_Ins_p.T296fs|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	296	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACCCCTCCTACACCTGCTCCTG	0.703																																						ENST00000310397.8		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(886-888)accfs		sushi, nidogen and EGF-like domains 1																																				SO:0001589	frameshift_variant	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241976286_241976287insCTTTCTT	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	Exception_encountered	2.37:g.241976286_241976287insCTTTCTT	ENSP00000308893:p.Thr296fs	False	False		Somatic	0				SNED1_ENST00000401884.1_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000405547.3_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000342631.6_Frame_Shift_Ins_p.T296fs|AC005237.4_ENST00000458377.1_RNA	p.T296fs	NM_001080437.1	NP_001073906.1	WXS	Illumina HiSeq	Phase_I	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	5	885_886	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	296			EGF-like 1.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Frame_Shift_Ins	INS	ENST00000310397.8	37	c.885_886insCTTTCTT	CCDS46562.1																																																																																				0.703	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	0	XM_059482		2:241976286
SNED1	25992	broad.mit.edu	37	2	241976287	241976288	+	Frame_Shift_Ins	INS	-	-	ATACATTTCCATTT			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:241976287_241976288insATACATTTCCATTT	ENST00000310397.8	+	5	886_887	c.886_887insATACATTTCCATTT	c.(886-888)accfs	p.T296fs	SNED1_ENST00000342631.6_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000405547.3_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000401884.1_Frame_Shift_Ins_p.T296fs|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	296	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCCCTCCTACACCTGCTCCTGC	0.708																																						ENST00000310397.8		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(886-888)accfs		sushi, nidogen and EGF-like domains 1																																				SO:0001589	frameshift_variant	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241976287_241976288insATACATTTCCATTT	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	Exception_encountered	2.37:g.241976287_241976288insATACATTTCCATTT	ENSP00000308893:p.Thr296fs	False	False		Somatic	0				SNED1_ENST00000401884.1_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000405547.3_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000342631.6_Frame_Shift_Ins_p.T296fs|AC005237.4_ENST00000458377.1_RNA	p.T296fs	NM_001080437.1	NP_001073906.1	WXS	Illumina HiSeq	Phase_I	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	5	886_887	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	296			EGF-like 1.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Frame_Shift_Ins	INS	ENST00000310397.8	37	c.886_887insATACATTTCCATTT	CCDS46562.1																																																																																				0.708	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	0	XM_059482		2:241976287
SYNPO2	171024	broad.mit.edu	37	4	119948539	119948540	+	Frame_Shift_Ins	INS	-	-	ACTT			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:119948539_119948540insACTT	ENST00000429713.2	+	3	1197_1198	c.1015_1016insACTT	c.(1015-1017)ccafs	p.P339fs	SYNPO2_ENST00000307142.4_Frame_Shift_Ins_p.P339fs|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Frame_Shift_Ins_p.P339fs	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	339						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGAGAAGATCCACGCTCGGAA	0.564																																						ENST00000307142.4		NA																	0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1015-1017)ccafs		synaptopodin 2																																				SO:0001589	frameshift_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948539_119948540insACTT	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	Exception_encountered	4.37:g.119948539_119948540insACTT	ENSP00000395143:p.Pro339fs	False	False		Somatic	0				SYNPO2_ENST00000434046.2_Frame_Shift_Ins_p.P339fs|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Frame_Shift_Ins_p.P339fs	p.P339fs	NM_133477.2	NP_597734.2	WXS	Illumina HiSeq	Phase_I	Q9UMS6	SYNP2_HUMAN			3	1211_1212	+			339					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Frame_Shift_Ins	INS	ENST00000429713.2	37	c.1015_1016insACTT	CCDS47129.1																																																																																				0.564	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1	0			4:119948539
SLC6A9	6536	broad.mit.edu	37	1	44474177	44474178	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:44474177_44474178delGT	ENST00000360584.2	-	5	847_848	c.656_657delAC	c.(655-657)tacfs	p.Y219fs	SLC6A9_ENST00000537678.1_Frame_Shift_Del_p.Y81fs|SLC6A9_ENST00000492434.2_5'Flank|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.Y146fs|SLC6A9_ENST00000372307.3_Frame_Shift_Del_p.Y81fs|SLC6A9_ENST00000357730.2_Frame_Shift_Del_p.Y165fs|SLC6A9_ENST00000372310.3_Frame_Shift_Del_p.Y146fs|SLC6A9_ENST00000475075.2_Frame_Shift_Del_p.Y35fs	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	219					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGTTATTGCAGTAGGCCCAGGG	0.584																																						ENST00000372307.3		NA																	0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(241-243)tacfs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)																																			SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474177_44474178delGT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.656_657delAC	1.37:g.44474177_44474178delGT	ENSP00000353791:p.Tyr219fs	False	False		Somatic	1				SLC6A9_ENST00000537678.1_Frame_Shift_Del_p.Y81fs|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.Y146fs|SLC6A9_ENST00000372310.3_Frame_Shift_Del_p.Y146fs|SLC6A9_ENST00000360584.2_Frame_Shift_Del_p.Y219fs|SLC6A9_ENST00000475075.2_Frame_Shift_Del_p.Y35fs|SLC6A9_ENST00000357730.2_Frame_Shift_Del_p.Y165fs	p.Y81fs			WXS	Illumina HiSeq	Phase_I	P48067	SC6A9_HUMAN			4	569_570	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	219					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000360584.2	37	c.242_243delAC	CCDS41317.1																																																																																				0.584	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	0	NM_201649		1:44474177
RAB3B	5865	broad.mit.edu	37	1	52385758	52385759	+	In_Frame_Ins	INS	-	-	CTG			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:52385758_52385759insCTG	ENST00000371655.3	-	5	712_713	c.500_501insCAG	c.(499-501)aag>aaCAGg	p.167_167K>NR		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	167					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						TGATGTTCTCCTTTGCACTGGC	0.52																																						ENST00000371655.3		NA																	0				large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(499-501)aag>aaCAGg		RAB3B, member RAS oncogene family																																				SO:0001652	inframe_insertion	5865				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:52385758_52385759insCTG	BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"""RAB, member RAS oncogene"""	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.500_501insCAG	1.37:g.52385758_52385759insCTG	ENSP00000360718:p.Lys167delinsAsnArg	True	False		Somatic	0					p.167_167K>NR	NM_002867.3	NP_002858.2	WXS	Illumina HiSeq	Phase_I	P20337	RAB3B_HUMAN			5	712_713	-			167					Q5VUL2|Q9BSI1	In_Frame_Ins	INS	ENST00000371655.3	37	c.500_501insCAG	CCDS560.1																																																																																				0.520	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1	0	NM_002867		1:52385758
LRP11	84918	broad.mit.edu	37	6	150158554	150158555	+	Frame_Shift_Ins	INS	-	-	ACCCA			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:150158554_150158555insACCCA	ENST00000239367.2	-	4	963_964	c.958_959insTGGGT	c.(958-960)ggcfs	p.-319fs	LRP11_ENST00000463728.1_5'Flank|LRP11_ENST00000546019.1_Frame_Shift_Ins_p.-64fs	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11							integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AATGCAGCAGCCATCGTCACAG	0.485																																						ENST00000239367.2		NA																	0				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8						c.(958-960)ggcfs		low density lipoprotein receptor-related protein 11																																				SO:0001589	frameshift_variant	84918					integral to membrane	receptor activity	g.chr6:150158554_150158555insACCCA	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.958_959insTGGGT	6.37:g.150158554_150158555insACCCA	ENSP00000239367:p.Asp319fs	False	False		Somatic	0				LRP11_ENST00000546019.1_Frame_Shift_Ins_p.-64fs	p.-319fs	NM_032832.5	NP_116221.3	WXS	Illumina HiSeq	Phase_I	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	4	963_964	-		Ovarian(120;0.0907)	NA					Q5VYC0|Q96SN6	Frame_Shift_Ins	INS	ENST00000239367.2	37	c.958_959insTGGGT	CCDS5220.1																																																																																				0.485	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	0	NM_032832		6:150158554
KIF25	3834	broad.mit.edu	37	6	168440883	168440884	+	Frame_Shift_Ins	INS	-	-	AGTT			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:168440883_168440884insAGTT	ENST00000443060.2	+	7	1024_1025	c.633_634insAGTT	c.(634-636)tctfs	p.-212fs	KIF25_ENST00000351261.3_Frame_Shift_Ins_p.-212fs|KIF25_ENST00000354419.2_Frame_Shift_Ins_p.-212fs			Q9UIL4	KIF25_HUMAN	kinesin family member 25						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCCTCCTGCTCTGACAGCAC	0.525																																						ENST00000443060.2		NA																	0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(634-636)tctfs		kinesin family member 25																																				SO:0001589	frameshift_variant	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168440883_168440884insAGTT	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	Exception_encountered	6.37:g.168440883_168440884insAGTT	ENSP00000388878:p.Ser212fs	False	False		Somatic	0				KIF25_ENST00000354419.2_Frame_Shift_Ins_p.-212fs|KIF25_ENST00000351261.3_Frame_Shift_Ins_p.-212fs	p.-212fs			WXS	Illumina HiSeq	Phase_I	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	1024_1025	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	NA					O94775|Q5SZU9	Frame_Shift_Ins	INS	ENST00000443060.2	37	c.633_634insAGTT	CCDS5305.1																																																																																				0.525	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1	0			6:168440883
FOXD3	27022	broad.mit.edu	37	1	63790114	63790131	+	In_Frame_Del	DEL	CGGCCGCCGCCGCTGCTG	CGGCCGCCGCCGCTGCTG	-	rs531096085	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	CGGCCGCCGCCGCTGCTG	CGGCCGCCGCCGCTGCTG	-	-	CGGCCGCCGCCGCTGCTG	CGGCCGCCGCCGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:63790114_63790131delCGGCCGCCGCCGCTGCTG	ENST00000371116.2	+	1	1385_1402	c.1385_1402delCGGCCGCCGCCGCTGCTG	c.(1384-1404)tcggccgccgccgctgctgcg>tcg	p.AAAAAA463del	RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	463	Poly-Ala.				embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						Cccgcagcctcggccgccgccgctgctgcggccgccgc	0.697																																					Pancreas(68;276 1750 11966 31252)	ENST00000371116.2		NA																	0				breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1384-1404)tcggccgccgccgctgctgcg>tcg		forkhead box D3																																				SO:0001651	inframe_deletion	27022				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:63790114_63790131delCGGCCGCCGCCGCTGCTG	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.1385_1402delCGGCCGCCGCCGCTGCTG	1.37:g.63790114_63790131delCGGCCGCCGCCGCTGCTG	ENSP00000360157:p.Ala463_Ala468del	True	False		Somatic	1					p.AAAAAA463del	NM_012183.2	NP_036315.1	WXS	Illumina HiSeq	Phase_I	Q9UJU5	FOXD3_HUMAN			1	1385_1402	+			463			Poly-Ala.		Q9BYM2|Q9UDD1	In_Frame_Del	DEL	ENST00000371116.2	37	c.1385_1402delCGGCCGCCGCCGCTGCTG	CCDS624.1																																																																																				0.697	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1	0			1:63790114
NEGR1	257194	broad.mit.edu	37	1	72076799	72076800	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:72076799_72076800insT	ENST00000357731.5	-	5	936_937	c.697_698insA	c.(697-699)ggcfs	p.G233fs	NEGR1_ENST00000306821.3_Frame_Shift_Ins_p.G105fs|NEGR1_ENST00000434200.1_Frame_Shift_Ins_p.G187fs	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	233	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGTCACGGTGCCAGATTTAATT	0.431																																						ENST00000357731.4		NA																	0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(697-699)ggcfs		neuronal growth regulator 1																																				SO:0001589	frameshift_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72076799_72076800insT	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.697_698insA	1.37:g.72076799_72076800insT	ENSP00000350364:p.Gly233fs	False	False		Somatic	0				NEGR1_ENST00000306821.3_Frame_Shift_Ins_p.G105fs|NEGR1_ENST00000434200.1_Frame_Shift_Ins_p.G187fs	p.G233fs	NM_173808.2	NP_776169.2	WXS	Illumina HiSeq	Phase_I	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	5	936_937	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	233			Ig-like C2-type 3.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Frame_Shift_Ins	INS	ENST00000357731.5	37	c.697_698insA	CCDS661.1																																																																																				0.431	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	0	NM_173808		1:72076799
NEGR1	257194	broad.mit.edu	37	1	72076800	72076801	+	Frame_Shift_Ins	INS	-	-	AGTAGGGG			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:72076800_72076801insAGTAGGGG	ENST00000357731.5	-	5	935_936	c.696_697insCCCCTACT	c.(694-699)tctggcfs	p.G233fs	NEGR1_ENST00000306821.3_Frame_Shift_Ins_p.G105fs|NEGR1_ENST00000434200.1_Frame_Shift_Ins_p.G187fs	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	233	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GTCACGGTGCCAGATTTAATTT	0.431																																						ENST00000357731.4		NA																	0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(694-699)tctggcfs		neuronal growth regulator 1																																				SO:0001589	frameshift_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72076800_72076801insAGTAGGGG	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.696_697insCCCCTACT	1.37:g.72076800_72076801insAGTAGGGG	ENSP00000350364:p.Gly233fs	False	False		Somatic	0				NEGR1_ENST00000306821.3_Frame_Shift_Ins_p.G105fs|NEGR1_ENST00000434200.1_Frame_Shift_Ins_p.G187fs	p.G233fs	NM_173808.2	NP_776169.2	WXS	Illumina HiSeq	Phase_I	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	5	935_936	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	233			Ig-like C2-type 3.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Frame_Shift_Ins	INS	ENST00000357731.5	37	c.696_697insCCCCTACT	CCDS661.1																																																																																				0.431	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	0	NM_173808		1:72076800
ST6GALNAC5	81849	broad.mit.edu	37	1	77510070	77510071	+	Frame_Shift_Ins	INS	-	-	AGCAGTGTCAAGAA			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:77510070_77510071insAGCAGTGTCAAGAA	ENST00000477717.1	+	3	678_679	c.443_444insAGCAGTGTCAAGAA	c.(442-447)agcatcfs	p.SI148fs		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	148					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCGCATTCCAGCATCCAGAGGA	0.634																																						ENST00000477717.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(442-447)agcatcfs		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5																																				SO:0001589	frameshift_variant	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510070_77510071insAGCAGTGTCAAGAA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	Exception_encountered	1.37:g.77510070_77510071insAGCAGTGTCAAGAA	ENSP00000417583:p.Ser148fs	False	False		Somatic	0					p.SI148fs	NM_030965.1	NP_112227.1	WXS	Illumina HiSeq	Phase_I	Q9BVH7	SIA7E_HUMAN			3	678_679	+			148					B1AK82	Frame_Shift_Ins	INS	ENST00000477717.1	37	c.443_444insAGCAGTGTCAAGAA	CCDS673.1																																																																																				0.634	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	0	NM_030965		1:77510070
SULF1	23213	broad.mit.edu	37	8	70501369	70501370	+	In_Frame_Ins	INS	-	-	GGG			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:70501369_70501370insGGG	ENST00000260128.4	+	8	1444_1445	c.727_728insGGG	c.(727-729)caa>cGGGaa	p.243_243Q>RE	SULF1_ENST00000458141.2_In_Frame_Ins_p.243_243Q>RE|SULF1_ENST00000402687.4_In_Frame_Ins_p.243_243Q>RE|SULF1_ENST00000419716.3_In_Frame_Ins_p.243_243Q>RE	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	243					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAATGCTTCCCAACACATGTAA	0.545																																						ENST00000260128.4		NA																	0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(727-729)caa>cGGGaa		sulfatase 1																																				SO:0001652	inframe_insertion	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70501369_70501370insGGG	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	Exception_encountered	8.37:g.70501369_70501370insGGG	ENSP00000260128:p.Gln243delinsArgGlu	True	False		Somatic	0				SULF1_ENST00000402687.4_In_Frame_Ins_p.243_243Q>RE|SULF1_ENST00000458141.2_In_Frame_Ins_p.243_243Q>RE|SULF1_ENST00000419716.3_In_Frame_Ins_p.243_243Q>RE	p.243_243Q>RE	NM_015170.2	NP_055985.2	WXS	Illumina HiSeq	Phase_I	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		8	1444_1445	+	Breast(64;0.0654)		243					Q86YV8|Q8NCA2|Q9UPS5	In_Frame_Ins	INS	ENST00000260128.4	37	c.727_728insGGG	CCDS6204.1																																																																																				0.545	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	0	NM_015170		8:70501369
SULF1	23213	broad.mit.edu	37	8	70501370	70501371	+	Frame_Shift_Ins	INS	-	-	AGCATTGGGGT			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:70501370_70501371insAGCATTGGGGT	ENST00000260128.4	+	8	1445_1446	c.728_729insAGCATTGGGGT	c.(727-732)caacacfs	p.H244fs	SULF1_ENST00000458141.2_Frame_Shift_Ins_p.H244fs|SULF1_ENST00000402687.4_Frame_Shift_Ins_p.H244fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.H244fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	244					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AATGCTTCCCAACACATGTAAG	0.545																																						ENST00000260128.4		NA																	0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(727-732)caacacfs		sulfatase 1																																				SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70501370_70501371insAGCATTGGGGT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	Exception_encountered	8.37:g.70501370_70501371insAGCATTGGGGT	ENSP00000260128:p.His244fs	False	False		Somatic	0				SULF1_ENST00000402687.4_Frame_Shift_Ins_p.H244fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.H244fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.H244fs	p.H244fs	NM_015170.2	NP_055985.2	WXS	Illumina HiSeq	Phase_I	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		8	1445_1446	+	Breast(64;0.0654)		244					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Ins	INS	ENST00000260128.4	37	c.728_729insAGCATTGGGGT	CCDS6204.1																																																																																				0.545	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	0	NM_015170		8:70501370
ARRDC1	92714	broad.mit.edu	37	9	140507340	140507354	+	Splice_Site	DEL	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	-	rs374081670|rs147183389	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	-	-	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:140507340_140507354delCTTTGCAGCCATCCG	ENST00000371421.4	+	2	182_189	c.118_125delCTTTGCAGCCATCCG	c.(118-126)ctttgcagc>c	p.LCS40del	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	40						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CAGCCATCCCCTTTGCAGCCATCCGGGTGACCTGC	0.633																																						ENST00000371421.4		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(118-126)ctttgcagc>c		arrestin domain containing 1																																				SO:0001630	splice_region_variant	92714							g.chr9:140507340_140507354delCTTTGCAGCCATCCG	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.119-1CTTTGCAGCCATCCG>-	9.37:g.140507340_140507354delCTTTGCAGCCATCCG		False	False		Somatic	1				ARRDC1_ENST00000491911.1_3'UTR	p.LCS40del	NM_152285.2	NP_689498.1	WXS	Illumina HiSeq	Phase_I	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	2	182_189	+	all_cancers(76;0.106)		40						Splice_Site	DEL	ENST00000371421.4	37	c.118_125delCTTTGCAGCCATCCG	CCDS7049.1																																																																																				0.633	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	0	NM_152285	In_Frame_Del	9:140507340
ISLR2	57611	broad.mit.edu	37	15	74425848	74425848	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:74425848C>T	ENST00000361742.3	+	4	1522	c.753C>T	c.(751-753)cgC>cgT	p.R251R	ISLR2_ENST00000453268.2_Silent_p.R251R|ISLR2_ENST00000445793.1_Silent_p.R251R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000565540.1_Silent_p.R251R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	251	Ig-like.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCCCACTGCGCGCAGGACTGG	0.677																																						ENST00000361742.3		NA																	0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(751-753)cgC>cgT		immunoglobulin superfamily containing leucine-rich repeat 2							35.0	34.0	34.0					15																	74425848		2196	4296	6492	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425848C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.753C>T	15.37:g.74425848C>T		True	False		Somatic	0				ISLR2_ENST00000565159.1_Silent_p.R251R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.R251R|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000453268.2_Silent_p.R251R|ISLR2_ENST00000445793.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R	p.R251R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	WXS	Illumina HiSeq	Phase_I	Q6UXK2	ISLR2_HUMAN			4	1522	+			251			Ig-like.		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.753C>T	CCDS10259.1																																																																																				0.677	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	0	NM_020851		15:74425848
TRIOBP	11078	broad.mit.edu	37	22	38153721	38153721	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38153721G>A	ENST00000406386.3	+	16	6044	c.5789G>A	c.(5788-5790)cGg>cAg	p.R1930Q	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R217Q|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R217Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1930					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTCATCAGCCGGGGTGGCCCT	0.701																																						ENST00000406386.3		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(5788-5790)cGg>cAg		TRIO and F-actin binding protein							12.0	14.0	14.0					22																	38153721		2177	4278	6455	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38153721G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5789G>A	22.37:g.38153721G>A	ENSP00000384312:p.Arg1930Gln	True	False		Somatic	0				RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R217Q|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R217Q	p.R1930Q	NM_001039141.2	NP_001034230.1	WXS	Illumina HiSeq	Phase_I	Q9H2D6	TARA_HUMAN			16	6044	+	Melanoma(58;0.0574)		1930					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.5789G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561208	0.86335	.	.	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	T	0.26957	1.7	5.5	5.5	0.81552	.	.	.	.	.	T	0.43055	0.1230	M	0.76574	2.34	0.31902	N	0.615782	D;D;D	0.71674	0.993;0.994;0.998	P;P;P	0.53760	0.713;0.734;0.608	T	0.56505	-0.7968	9	0.66056	D	0.02	.	13.1341	0.59399	0.0828:0.0:0.9172:0.0	.	217;217;1930	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	Q	1930;217;217;176;146	ENSP00000384312:R1930Q	ENSP00000386026:R217Q	R	+	2	0	TRIOBP	36483667	0.999000	0.42202	0.997000	0.53966	0.785000	0.44390	3.643000	0.54374	2.580000	0.87095	0.555000	0.69702	CGG		0.701	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	0			22:38153721
CDH2	1000	broad.mit.edu	37	18	25570188	25570188	+	Missense_Mutation	SNP	C	C	T	rs201148355		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:25570188C>T	ENST00000269141.3	-	10	1894	c.1471G>A	c.(1471-1473)Gta>Ata	p.V491I	CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	491	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.V491I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCATTTACGTCAATAACT	0.468																																						ENST00000269141.3		NA																	1	Substitution - Missense(1)	p.V491I(1)	cervix(1)	NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1471-1473)Gta>Ata		cadherin 2, type 1, N-cadherin (neuronal)		C	ILE/VAL	0,4406		0,0,2203	133.0	123.0	127.0		1471	6.2	1.0	18		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH2	NM_001792.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	491/907	25570188	1,13005	2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25570188C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1471G>A	18.37:g.25570188C>T	ENSP00000269141:p.Val491Ile	False	False		Somatic	0				CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	p.V491I	NM_001792.3	NP_001783.2	WXS	Illumina HiSeq	Phase_I	P19022	CADH2_HUMAN			10	1894	-			491			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1471G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871347	0.72065	0.0	1.16E-4	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.62232	0.04;0.04	6.16	6.16	0.99307	Cadherin (3);Cadherin-like (1);	0.056760	0.64402	D	0.000001	T	0.61476	0.2350	L	0.49699	1.58	0.80722	D	1	B;B	0.17268	0.021;0.007	B;B	0.08055	0.003;0.001	T	0.53961	-0.8364	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	460;491	A8MWK3;P19022	.;CADH2_HUMAN	I	491;460	ENSP00000269141:V491I;ENSP00000382312:V460I	ENSP00000269141:V491I	V	-	1	0	CDH2	23824186	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GTA		0.468	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	0	NM_001792		18:25570188
PIK3CA	5290	broad.mit.edu	37	3	178936074	178936074	+	Missense_Mutation	SNP	C	C	G	rs121913285		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:178936074C>G	ENST00000263967.3	+	10	1773	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	539	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P539R(17)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACACGAGATCCTCTCTCTGAA	0.328	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		17	Substitution - Missense(17)	p.P539R(17)	breast(12)|thyroid(1)|large_intestine(1)|central_nervous_system(1)|endometrium(1)|lung(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1615-1617)cCt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							53.0	53.0	53.0					3																	178936074		1806	4068	5874	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936074C>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1616C>G	3.37:g.178936074C>G	ENSP00000263967:p.Pro539Arg	True	False	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic	0					p.P539R	NM_006218.2	NP_006209.2	WXS	Illumina HiSeq	Phase_I	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1773	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		539			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1616C>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987372	0.93106	.	.	ENSG00000121879	ENST00000263967	D	0.89270	-2.49	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.80332	2.49	0.80722	D	1	D	0.59357	0.985	D	0.63192	0.912	D	0.94197	0.7446	10	0.59425	D	0.04	-26.0829	20.0024	0.97423	0.0:1.0:0.0:0.0	.	539	P42336	PK3CA_HUMAN	R	539	ENSP00000263967:P539R	ENSP00000263967:P539R	P	+	2	0	PIK3CA	180418768	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CCT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2	0			3:178936074
GPSM1	26086	broad.mit.edu	37	9	139228944	139228944	+	Missense_Mutation	SNP	C	C	T	rs140085951		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:139228944C>T	ENST00000440944.1	+	2	329	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	GPSM1_ENST00000392945.3_Missense_Mutation_p.R37C	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	37	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGAGGGCGAGCGTCTGTGCAA	0.652																																						ENST00000440944.1		NA																	0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(109-111)Cgt>Tgt		G-protein signaling modulator 1							55.0	52.0	53.0					9																	139228944		2202	4299	6501	SO:0001583	missense	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139228944C>T	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.109C>T	9.37:g.139228944C>T	ENSP00000392828:p.Arg37Cys	False	False		Somatic	0				GPSM1_ENST00000392945.3_Missense_Mutation_p.R37C	p.R37C	NM_001145638.1	NP_001139110.1	WXS	Illumina HiSeq	Phase_I	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	2	329	+		Myeloproliferative disorder(178;0.0821)	37			Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	c.109C>T	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	c	19.82	3.899125	0.72754	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.75477	-0.94;-0.94;-0.0	4.66	3.65	0.41850	.	0.000000	0.64402	U	0.000001	D	0.84397	0.5463	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86778	0.1977	10	0.87932	D	0	-12.3547	14.5162	0.67821	0.1569:0.8431:0.0:0.0	.	37;37	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	C	37;37;14	ENSP00000376674:R37C;ENSP00000392828:R37C;ENSP00000346797:R14C	ENSP00000346797:R14C	R	+	1	0	GPSM1	138348765	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	1.805000	0.38883	2.113000	0.64589	0.556000	0.70494	CGT		0.652	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_015597		9:139228944
SBK2	646643	broad.mit.edu	37	19	56042597	56042597	+	Silent	SNP	G	G	A	rs200066533	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56042597G>A	ENST00000413299.1	-	3	406	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SBK2_ENST00000344158.3_Silent_p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCAATGCCGTAGGCCGTCA	0.642																																						ENST00000413299.1		NA																	0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(367-369)taC>taT		SH3 domain binding kinase family, member 2							48.0	55.0	52.0					19																	56042597		2165	4254	6419	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56042597G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.369C>T	19.37:g.56042597G>A		False	False		Somatic	0				SBK2_ENST00000344158.3_Silent_p.Y123Y	p.Y123Y	NM_001101401.2	NP_001094871.2	WXS	Illumina HiSeq	Phase_I	P0C263	SBK2_HUMAN			3	406	-			123			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.369C>T	CCDS42631.1																																																																																				0.642	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	0	NM_001101401		19:56042597
RAB40B	10966	broad.mit.edu	37	17	80616499	80616499	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:80616499C>T	ENST00000571995.1	-	5	564	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Intron	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	145					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGGCGCTCGGCGTAGGCCTGG	0.652																																						ENST00000571995.1		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10						c.(433-435)Gcc>Acc		RAB40B, member RAS oncogene family							39.0	40.0	40.0					17																	80616499		2203	4300	6503	SO:0001583	missense	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80616499C>T	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.433G>A	17.37:g.80616499C>T	ENSP00000461785:p.Ala145Thr	False	False		Somatic	0				RAB40B_ENST00000538809.2_Intron|RAB40B_ENST00000269347.6_5'UTR	p.A145T	NM_006822.2	NP_006813.1	WXS	Illumina HiSeq	Phase_I	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		5	564	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	145					Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	c.433G>A	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306869	0.95629	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	3.84	3.84	0.44239	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000008	D	0.84804	0.5553	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.63597	0.916	D	0.89908	0.4049	9	0.87932	D	0	.	16.2189	0.82244	0.0:1.0:0.0:0.0	.	145	Q12829	RB40B_HUMAN	T	145;179	.	ENSP00000269347:A145T	A	-	1	0	RAB40B	78209788	1.000000	0.71417	0.792000	0.32020	0.907000	0.53573	5.860000	0.69546	2.082000	0.62665	0.591000	0.81541	GCC		0.652	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1	0			17:80616499
UXS1	80146	broad.mit.edu	37	2	106710580	106710580	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:106710580G>A	ENST00000409501.3	-	15	1222	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	UXS1_ENST00000283148.7_Missense_Mutation_p.H394Y|UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y|UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	389					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGGAAGTAGTGAATTGCTTTG	0.473																																						ENST00000283148.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(1180-1182)Cac>Tac		UDP-glucuronate decarboxylase 1							219.0	208.0	212.0					2																	106710580		1960	4143	6103	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106710580G>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1165C>T	2.37:g.106710580G>A	ENSP00000387019:p.His389Tyr	False	False		Somatic	0				UXS1_ENST00000409501.3_Missense_Mutation_p.H389Y|UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y|UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y	p.H394Y	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	WXS	Illumina HiSeq	Phase_I	Q8NBZ7	UXS1_HUMAN			15	1277	-			389					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.1180C>T	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287260	0.59867	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.68	5.68	0.88126	.	0.046027	0.85682	D	0.000000	T	0.54647	0.1871	L	0.43923	1.385	0.80722	D	1	B;B;B	0.19817	0.039;0.023;0.023	B;B;B	0.14578	0.011;0.005;0.008	T	0.51748	-0.8666	10	0.72032	D	0.01	-10.5314	19.7704	0.96361	0.0:0.0:1.0:0.0	.	394;389;394	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	Y	394;332;389;221	ENSP00000283148:H394Y;ENSP00000438265:H332Y;ENSP00000387019:H389Y;ENSP00000387096:H221Y	ENSP00000283148:H394Y	H	-	1	0	UXS1	106077012	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	9.266000	0.95659	2.670000	0.90874	0.563000	0.77884	CAC		0.473	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	0	NM_025076.3		2:106710580
AP4B1	10717	broad.mit.edu	37	1	114445373	114445373	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:114445373A>G	ENST00000369569.1	-	2	505	c.225T>C	c.(223-225)taT>taC	p.Y75Y	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Silent_p.Y75Y|AP4B1_ENST00000256658.4_Silent_p.Y75Y|DCLRE1B_ENST00000369563.3_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	75					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGGGGAGCATATGTGCACA	0.498																																						ENST00000369569.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(223-225)taT>taC		adaptor-related protein complex 4, beta 1 subunit							156.0	127.0	137.0					1																	114445373		2203	4300	6503	SO:0001819	synonymous_variant	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114445373A>G	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.225T>C	1.37:g.114445373A>G		False	False		Somatic	0				AP4B1_ENST00000256658.4_Silent_p.Y75Y|AP4B1_ENST00000369566.3_Silent_p.Y75Y|AP4B1_ENST00000369567.1_Intron	p.Y75Y	NM_001253852.1	NP_001240781.1	WXS	Illumina HiSeq	Phase_I	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	505	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	75					B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	37	c.225T>C	CCDS865.1																																																																																				0.498	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	0	NM_006594		1:114445373
ZNF3	7551	broad.mit.edu	37	7	99669508	99669508	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:99669508T>C	ENST00000424697.1	-	6	905	c.599A>G	c.(598-600)cAt>cGt	p.H200R	ZNF3_ENST00000303915.6_Missense_Mutation_p.H200R|ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	200					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			ATCACACTTATGGGGTCTGTC	0.433																																						ENST00000303915.6		NA																	0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(598-600)cAt>cGt		zinc finger protein 3							86.0	93.0	91.0					7																	99669508		2146	4274	6420	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669508T>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.599A>G	7.37:g.99669508T>C	ENSP00000415358:p.His200Arg	True	False		Somatic	0				ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R|ZNF3_ENST00000424697.1_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron	p.H200R			WXS	Illumina HiSeq	Phase_I	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1566	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	200					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.599A>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189385	0.57909	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.35421	1.31;1.31;1.31	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.51584	0.1683	L	0.60845	1.875	0.37016	D	0.895972	D;D	0.63880	0.993;0.982	P;P	0.62491	0.824;0.903	T	0.61783	-0.6992	10	0.87932	D	0	-15.5748	12.2643	0.54668	0.0:0.0:0.0:1.0	.	183;200	B3KRP4;P17036	.;ZNF3_HUMAN	R	200	ENSP00000415358:H200R;ENSP00000306372:H200R;ENSP00000299667:H200R	ENSP00000299667:H200R	H	-	2	0	ZNF3	99507444	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.261000	0.18442	2.075000	0.62263	0.533000	0.62120	CAT		0.433	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	0	NM_017715		7:99669508
MYO1F	4542	broad.mit.edu	37	19	8595429	8595429	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:8595429C>T	ENST00000338257.8	-	20	2339	c.2072G>A	c.(2071-2073)cGa>cAa	p.R691Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	691					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCGAACTTTCGCTCTCGCAC	0.647																																						ENST00000338257.8		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(2071-2073)cGa>cAa		myosin IF							82.0	87.0	86.0					19																	8595429		2007	4161	6168	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8595429C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2072G>A	19.37:g.8595429C>T	ENSP00000344871:p.Arg691Gln	True	False		Somatic	0					p.R691Q	NM_012335.3	NP_036467.2	WXS	Illumina HiSeq	Phase_I	O00160	MYO1F_HUMAN			20	2339	-			691					Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.2072G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	36	5.683094	0.96774	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95205	-3.64	5.36	5.36	0.76844	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.96259	0.8780	M	0.81942	2.565	0.80722	D	1	D	0.63880	0.993	P	0.54174	0.744	D	0.95729	0.8773	10	0.41790	T	0.15	.	18.1619	0.89710	0.0:1.0:0.0:0.0	.	691	O00160	MYO1F_HUMAN	Q	736;691	ENSP00000344871:R691Q	ENSP00000304899:R736Q	R	-	2	0	MYO1F	8501429	1.000000	0.71417	0.952000	0.39060	0.951000	0.60555	7.748000	0.85085	2.532000	0.85374	0.555000	0.69702	CGA		0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2	0			19:8595429
FAT2	2196	broad.mit.edu	37	5	150885588	150885588	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150885588G>A	ENST00000261800.5	-	23	12600	c.12588C>T	c.(12586-12588)tcC>tcT	p.S4196S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4196					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCACTTCGGAGTGGGGGT	0.622																																						ENST00000261800.5		NA																	0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12586-12588)tcC>tcT		FAT atypical cadherin 2							67.0	83.0	77.0					5																	150885588		2195	4294	6489	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885588G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12588C>T	5.37:g.150885588G>A		False	False		Somatic	0					p.S4196S	NM_001447.2	NP_001438.1	WXS	Illumina HiSeq	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12600	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4196					O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.12588C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	0.702	-0.790312	0.02884	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.02	-5.86	0.02304	.	.	.	.	.	.	.	.	.	.	.	0.29771	N	0.83475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4588	0.27283	0.3167:0.2335:0.4498:0.0	.	.	.	.	X	969	.	.	R	-	1	2	FAT2	150865781	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-2.499000	0.00968	-0.718000	0.04949	-0.459000	0.05422	CGA		0.622	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	NM_001447		5:150885588
GPR156	165829	broad.mit.edu	37	3	119962542	119962542	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:119962542C>T	ENST00000464295.1	-	3	623	c.178G>A	c.(178-180)Gga>Aga	p.G60R	GPR156_ENST00000315843.3_Missense_Mutation_p.G60R|GPR156_ENST00000461057.1_Missense_Mutation_p.G60R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGCAGAAGTCCACAGCTGAGA	0.433																																						ENST00000464295.1		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(178-180)Gga>Aga		G protein-coupled receptor 156							130.0	116.0	121.0					3																	119962542		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962542C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.178G>A	3.37:g.119962542C>T	ENSP00000417261:p.Gly60Arg	False	False		Somatic	0				GPR156_ENST00000461057.1_Missense_Mutation_p.G60R|GPR156_ENST00000315843.3_Missense_Mutation_p.G60R	p.G60R			WXS	Illumina HiSeq	Phase_I	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	3	623	-			60					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.178G>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949646	0.73787	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.91945	-2.94;-2.94;-2.94	5.2	4.31	0.51392	GPCR, family 3, C-terminal (2);	0.089971	0.46758	D	0.000261	D	0.95974	0.8689	M	0.88512	2.96	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.95894	0.8909	9	.	.	.	-13.3173	10.9026	0.47059	0.187:0.813:0.0:0.0	.	60;60	E9PFZ4;Q8NFN8	.;GP156_HUMAN	R	60	ENSP00000417261:G60R;ENSP00000324553:G60R;ENSP00000418758:G60R	.	G	-	1	0	GPR156	121445232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.539000	0.60657	1.385000	0.46445	0.650000	0.86243	GGA		0.433	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	0	NM_153002		3:119962542
PPM1G	5496	broad.mit.edu	37	2	27607706	27607706	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27607706C>T	ENST00000344034.4	-	5	923	c.659G>A	c.(658-660)cGt>cAt	p.R220H	PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	220					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTCAGTCCCACGTTCCGAGTT	0.572																																						ENST00000344034.4		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(658-660)cGt>cAt		protein phosphatase, Mg2+/Mn2+ dependent, 1G							136.0	117.0	123.0					2																	27607706		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27607706C>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.659G>A	2.37:g.27607706C>T	ENSP00000342778:p.Arg220His	False	False		Somatic	0				PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	p.R220H	NM_177983.2	NP_817092.1	WXS	Illumina HiSeq	Phase_I	O15355	PPM1G_HUMAN			5	923	-	Acute lymphoblastic leukemia(172;0.155)		220						Missense_Mutation	SNP	ENST00000344034.4	37	c.659G>A	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335465	0.24253	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.44083	0.93;0.93	5.75	2.95	0.34219	Protein phosphatase 2C-like (3);	0.608394	0.16245	N	0.222966	T	0.27663	0.0680	L	0.36672	1.1	0.27600	N	0.948996	B	0.02656	0.0	B	0.01281	0.0	T	0.21245	-1.0251	10	0.21014	T	0.42	0.2289	5.1636	0.15073	0.0:0.5481:0.1408:0.3111	.	220	O15355	PPM1G_HUMAN	H	220;220;203	ENSP00000342778:R220H;ENSP00000264714:R220H	ENSP00000342778:R220H	R	-	2	0	PPM1G	27461210	0.997000	0.39634	0.997000	0.53966	0.986000	0.74619	1.019000	0.30014	0.348000	0.23949	0.655000	0.94253	CGT		0.572	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	0	NM_002707		2:27607706
INHBB	3625	broad.mit.edu	37	2	121106698	121106698	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:121106698C>T	ENST00000295228.3	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCCCGGGTCCGCCTATACTT	0.557																																						ENST00000295228.3		NA																	0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15						c.(472-474)Cgc>Tgc		inhibin, beta B							56.0	60.0	59.0					2																	121106698		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121106698C>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.472C>T	2.37:g.121106698C>T	ENSP00000295228:p.Arg158Cys	False	False		Somatic	0					p.R158C	NM_002193.2	NP_002184.2	WXS	Illumina HiSeq	Phase_I	P09529	INHBB_HUMAN			2	518	+		Prostate(154;0.122)	158					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.472C>T	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070536	0.55539	.	.	ENSG00000163083	ENST00000295228	T	0.66995	-0.24	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.216528	0.39210	N	0.001426	T	0.61751	0.2372	L	0.54323	1.7	0.47698	D	0.999492	B	0.17667	0.023	B	0.12837	0.008	T	0.60667	-0.7218	10	0.59425	D	0.04	-3.9508	12.8184	0.57679	0.1636:0.8364:0.0:0.0	.	158	P09529	INHBB_HUMAN	C	158	ENSP00000295228:R158C	ENSP00000295228:R158C	R	+	1	0	INHBB	120823168	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.726000	0.38085	2.804000	0.96469	0.655000	0.94253	CGC		0.557	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1	0			2:121106698
TSHZ2	128553	broad.mit.edu	37	20	51871827	51871827	+	Silent	SNP	G	G	A	rs147016688	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:51871827G>A	ENST00000371497.5	+	2	2717	c.1830G>A	c.(1828-1830)gcG>gcA	p.A610A	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.A607A|TSHZ2_ENST00000603338.2_Silent_p.A607A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	610					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A610A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGATGAAGCGGTGAAGGAGT	0.502																																						ENST00000371497.5		NA																	1	Substitution - coding silent(1)	p.A610A(1)	large_intestine(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1828-1830)gcG>gcA		teashirt zinc finger homeobox 2							92.0	93.0	93.0					20																	51871827		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871827G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1830G>A	20.37:g.51871827G>A		False	False		Somatic	0				TSHZ2_ENST00000603338.2_Silent_p.A607A|TSHZ2_ENST00000329613.6_Silent_p.A607A	p.A610A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	WXS	Illumina HiSeq	Phase_I	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2717	+			610					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1830G>A	CCDS33490.1																																																																																				0.502	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	0	NM_173485		20:51871827
PHF1	5252	broad.mit.edu	37	6	33382134	33382134	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:33382134C>A	ENST00000374516.3	+	9	1138	c.867C>A	c.(865-867)ctC>ctA	p.L289L	PHF1_ENST00000374512.3_Silent_p.L289L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	289					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACAGTTTGCTCCTGGGGGAGG	0.498											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(865-867)ctC>ctA		PHD finger protein 1							96.0	99.0	98.0					6																	33382134		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382134C>A	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.867C>A	6.37:g.33382134C>A		False	False		Somatic	0	OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.L289L	p.L289L	NM_024165.2	NP_077084.1	WXS	Illumina HiSeq	Phase_I	O43189	PHF1_HUMAN			9	1138	+		Ovarian(999;0.0443)	289					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.867C>A	CCDS4777.1																																																																																				0.498	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3	0			6:33382134
PEX16	9409	broad.mit.edu	37	11	45936217	45936217	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:45936217C>T	ENST00000378750.5	-	6	722	c.479G>A	c.(478-480)gGc>gAc	p.G160D	PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000241041.3_Missense_Mutation_p.G160D|PEX16_ENST00000532681.1_Missense_Mutation_p.G65D			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	160					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTCATGGTTGCCAGGGCTGTG	0.582																																						ENST00000532681.1		NA																	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)	7						c.(193-195)gGc>gAc		peroxisomal biogenesis factor 16							159.0	132.0	141.0					11																	45936217		2203	4299	6502	SO:0001583	missense	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45936217C>T	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.479G>A	11.37:g.45936217C>T	ENSP00000368024:p.Gly160Asp	False	False		Somatic	0				PEX16_ENST00000378750.5_Missense_Mutation_p.G160D|PEX16_ENST00000241041.3_Missense_Mutation_p.G160D|PEX16_ENST00000532554.1_5'UTR	p.G65D			WXS	Illumina HiSeq	Phase_I	Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	6	1057	-			160					Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	37	c.194G>A	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	C	3.698	-0.062097	0.07317	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151;ENST00000525192	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.85	4.0	0.46444	.	0.670270	0.16493	N	0.212040	T	0.13756	0.0333	L	0.31294	0.92	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.12156	0.007;0.004	T	0.32161	-0.9917	10	0.15952	T	0.53	-5.9846	8.1875	0.31348	0.0:0.7141:0.139:0.1469	.	160;160	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	D	160;160;65;56;65	ENSP00000241041:G160D;ENSP00000368024:G160D;ENSP00000434654:G65D;ENSP00000433045:G56D;ENSP00000431309:G65D	ENSP00000241041:G160D	G	-	2	0	PEX16	45892793	0.123000	0.22298	0.047000	0.18901	0.134000	0.20937	0.876000	0.28092	0.827000	0.34685	-0.291000	0.09656	GGC		0.582	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	0	NM_057174		11:45936217
TRIM16L	147166	broad.mit.edu	37	17	18634465	18634465	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:18634465G>A	ENST00000449552.2	+	5	1768	c.284G>A	c.(283-285)cGc>cAc	p.R95H	TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R95H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R95H|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R149H			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	95						cytoplasm (GO:0005737)		p.R95H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TCGGGCATCCGCAAAGTTATC	0.443																																						ENST00000449552.2		NA																	1	Substitution - Missense(1)	p.R95H(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(283-285)cGc>cAc		tripartite motif containing 16-like							82.0	75.0	77.0					17																	18634465		2202	4300	6502	SO:0001583	missense	147166					cytoplasm		g.chr17:18634465G>A	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.284G>A	17.37:g.18634465G>A	ENSP00000461386:p.Arg95His	False	False		Somatic	0				TRIM16L_ENST00000395672.2_Missense_Mutation_p.R95H|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R149H|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R95H|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R95H	p.R95H			WXS	Illumina HiSeq	Phase_I	Q309B1	TR16L_HUMAN			5	1768	+			95					A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.284G>A	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	g	6.943	0.543701	0.13250	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.69306	-0.39;-0.35;-0.35	3.34	1.08	0.20341	.	0.505333	0.19169	U	0.120992	T	0.46464	0.1394	L	0.27053	0.805	0.27535	N	0.950972	B;B;B	0.16603	0.018;0.018;0.018	B;B;B	0.10450	0.005;0.004;0.005	T	0.34279	-0.9835	10	0.48119	T	0.1	-15.3991	4.4089	0.11423	0.4614:0.0:0.5386:0.0	.	149;311;95	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	H	149;95;95	ENSP00000379239:R149H;ENSP00000379031:R95H;ENSP00000379030:R95H	ENSP00000379030:R95H	R	+	2	0	TRIM16L	18575190	0.986000	0.35501	1.000000	0.80357	0.454000	0.32378	1.469000	0.35343	0.609000	0.30018	0.405000	0.27470	CGC		0.443	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	0	NM_001037330		17:18634465
KIAA0195	9772	broad.mit.edu	37	17	73492816	73492816	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:73492816G>A	ENST00000314256.7	+	25	3643	c.3249G>A	c.(3247-3249)cgG>cgA	p.R1083R	KIAA0195_ENST00000375248.5_Silent_p.R1093R|KIAA0195_ENST00000579208.1_Silent_p.R734R|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1083						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTAGGCTCGGCATGCCACCT	0.607																																						ENST00000314256.7		NA																	0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3247-3249)cgG>cgA		KIAA0195							119.0	110.0	113.0					17																	73492816		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73492816G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3249G>A	17.37:g.73492816G>A		False	False		Somatic	0				KIAA0195_ENST00000375248.5_Silent_p.R1093R|KIAA0195_ENST00000579208.1_Silent_p.R734R|AC100787.1_ENST00000579379.1_RNA	p.R1083R	NM_014738.4	NP_055553.3	WXS	Illumina HiSeq	Phase_I	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	3643	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1083					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.3249G>A	CCDS32732.1																																																																																				0.607	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	0	NM_014738		17:73492816
ASTN1	460	broad.mit.edu	37	1	176833536	176833536	+	Missense_Mutation	SNP	C	C	T	rs538221544		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:176833536C>T	ENST00000367654.3	-	23	4004	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1265					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTTGATCTCGCTGTAGCGG	0.587																																						ENST00000367654.2		NA																	0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3793-3795)Gag>Aag		astrotactin 1							92.0	90.0	91.0					1																	176833536		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176833536C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3793G>A	1.37:g.176833536C>T	ENSP00000356626:p.Glu1265Lys	False	False		Somatic	0				ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K|ASTN1_ENST00000367657.3_Intron	p.E1265K			WXS	Illumina HiSeq	Phase_I	O14525	ASTN1_HUMAN			23	3806	-			1265					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3793G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.600256	0.87055	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.14022	2.55;2.54	4.61	4.61	0.57282	.	0.047461	0.85682	D	0.000000	T	0.09774	0.0240	L	0.27053	0.805	0.80722	D	1	P	0.50710	0.938	B	0.33454	0.164	T	0.12218	-1.0556	10	0.87932	D	0	-23.1216	17.4153	0.87498	0.0:1.0:0.0:0.0	.	1257	O14525-2	.	K	1257;1265	ENSP00000354536:E1257K;ENSP00000356626:E1265K	ENSP00000354536:E1257K	E	-	1	0	ASTN1	175100159	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.018000	0.76406	2.282000	0.76494	0.555000	0.69702	GAG		0.587	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		0	NM_004319		1:176833536
SGCD	6444	broad.mit.edu	37	5	155771526	155771526	+	Missense_Mutation	SNP	C	C	T	rs566181541		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:155771526C>T	ENST00000435422.3	+	2	515	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	SGCD_ENST00000447401.1_Missense_Mutation_p.R11W|SGCD_ENST00000337851.4_Missense_Mutation_p.R11W|SGCD_ENST00000517913.1_Missense_Mutation_p.R11W	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	10					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCACCACCGGAGCACCAT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18429	0.001		0.0	False		,,,				2504	0.0					ENST00000435422.3		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(28-30)Cgg>Tgg		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							108.0	109.0	109.0					5																	155771526		1950	4166	6116	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155771526C>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.28C>T	5.37:g.155771526C>T	ENSP00000403003:p.Arg10Trp	False	False		Somatic	0				SGCD_ENST00000337851.4_Missense_Mutation_p.R11W|SGCD_ENST00000447401.1_Missense_Mutation_p.R11W|SGCD_ENST00000517913.1_Missense_Mutation_p.R11W	p.R10W	NM_001128209.1	NP_001121681.1	WXS	Illumina HiSeq	Phase_I	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	515	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	10					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.28C>T	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212095	0.79240	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	T;D;D;T	0.86694	1.41;-2.15;-2.16;1.41	5.59	2.34	0.29019	.	0.051785	0.64402	D	0.000001	D	0.91297	0.7256	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.996;0.999	D	0.91387	0.5132	10	0.72032	D	0.01	0.2039	14.2572	0.66060	0.5847:0.4153:0.0:0.0	.	10;11;11	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	W	11;10;11;11	ENSP00000429378:R11W;ENSP00000403003:R10W;ENSP00000338343:R11W;ENSP00000408324:R11W	ENSP00000338343:R11W	R	+	1	2	SGCD	155704104	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.486000	0.35530	0.624000	0.30286	0.655000	0.94253	CGG		0.478	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3	0			5:155771526
RASAL3	64926	broad.mit.edu	37	19	15567402	15567402	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:15567402G>A	ENST00000343625.7	-	10	1572	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	496	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAACAGCAGCGCCTCACGGCC	0.617																																						ENST00000343625.6		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(1486-1488)gCg>gTg		RAS protein activator like 3							67.0	72.0	70.0					19																	15567402		2182	4278	6460	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15567402G>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1487C>T	19.37:g.15567402G>A	ENSP00000341905:p.Ala496Val	False	False		Somatic	0				RASAL3_ENST00000595098.1_5'UTR	p.A496V	NM_022904.1	NP_075055.1	WXS	Illumina HiSeq	Phase_I	Q86YV0	RASL3_HUMAN			10	1567	-			496			Ras-GAP.		Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.1487C>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.834497	0.71373	.	.	ENSG00000105122	ENST00000343625	T	0.79554	-1.28	4.37	4.37	0.52481	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.212338	0.22735	U	0.056263	T	0.82098	0.4963	L	0.49350	1.555	0.38814	D	0.955492	D	0.56968	0.978	P	0.54312	0.748	T	0.80476	-0.1366	10	0.23302	T	0.38	.	14.8191	0.70059	0.0:0.0:1.0:0.0	.	496	Q86YV0	RASL3_HUMAN	V	496	ENSP00000341905:A496V	ENSP00000341905:A496V	A	-	2	0	RASAL3	15428402	0.007000	0.16637	1.000000	0.80357	0.994000	0.84299	1.074000	0.30703	2.158000	0.67659	0.558000	0.71614	GCG		0.617	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	0	NM_022904		19:15567402
ZNF787	126208	broad.mit.edu	37	19	56600294	56600294	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56600294G>A	ENST00000270459.3	-	3	365	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGCTGGTGCCGCGTCAGCTTG	0.721																																						ENST00000270459.3		NA																	0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(247-249)Cgg>Tgg		zinc finger protein 787							14.0	15.0	15.0					19																	56600294		2187	4273	6460	SO:0001583	missense	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600294G>A	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.247C>T	19.37:g.56600294G>A	ENSP00000270459:p.Arg83Trp	False	False		Somatic	0					p.R83W	NM_001002836.2	NP_001002836.2	WXS	Illumina HiSeq	Phase_I	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	365	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	83					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.247C>T	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406781	0.62399	.	.	ENSG00000142409	ENST00000270459	T	0.56275	0.47	3.22	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73860	0.3641	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.78902	-0.2021	9	0.59425	D	0.04	-20.4997	12.27	0.54700	0.0:0.0:1.0:0.0	.	83	Q6DD87	ZN787_HUMAN	W	83	ENSP00000270459:R83W	ENSP00000270459:R83W	R	-	1	2	ZNF787	61292106	0.000000	0.05858	0.980000	0.43619	0.978000	0.69477	-0.893000	0.04127	1.812000	0.52913	0.462000	0.41574	CGG		0.721	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	0	NM_001002836		19:56600294
SRFBP1	153443	broad.mit.edu	37	5	121362757	121362757	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:121362757G>A	ENST00000339397.4	+	8	1298	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GCAAGCAGAAGGCGAAAAGAA	0.368																																						ENST00000339397.4		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(1225-1227)aGg>aAg		serum response factor binding protein 1							47.0	45.0	46.0					5																	121362757		1835	4088	5923	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121362757G>A	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.1226G>A	5.37:g.121362757G>A	ENSP00000341324:p.Arg409Lys	False	False		Somatic	0				SRFBP1_ENST00000504881.1_Intron	p.R409K	NM_152546.2	NP_689759.2	WXS	Illumina HiSeq	Phase_I	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	8	1298	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	409						Missense_Mutation	SNP	ENST00000339397.4	37	c.1226G>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569176	0.28003	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	-0.243	0.13035	Bud-site selection protein, BUD22 (1);	0.337294	0.36303	N	0.002678	T	0.30479	0.0766	N	0.16368	0.405	0.34634	D	0.719936	B	0.17038	0.02	B	0.17433	0.018	T	0.29366	-1.0014	9	0.13853	T	0.58	-6.0429	11.318	0.49403	0.5482:0.0:0.4518:0.0	.	409	Q8NEF9	SRFB1_HUMAN	K	409	.	ENSP00000341324:R409K	R	+	2	0	SRFBP1	121390656	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	1.433000	0.34947	0.003000	0.14656	0.655000	0.94253	AGG		0.368	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	0	NM_152546		5:121362757
CHRNA9	55584	broad.mit.edu	37	4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGAAAATGTGCCCCTGATAGG	0.498																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2		NA																	0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(889-891)Ccc>Tcc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						56.0	61.0	59.0					4																	40351422		2202	4297	6499	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351422C>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.889C>T	4.37:g.40351422C>T	ENSP00000312663:p.Pro297Ser	True	False		Somatic	0					p.P297S	NM_017581.3	NP_060051.2	WXS	Illumina HiSeq	Phase_I	Q9UGM1	ACHA9_HUMAN			4	1028	+			297					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.889C>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005901	0.74932	.	.	ENSG00000174343	ENST00000310169	D	0.93859	-3.3	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98107	1.0418	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	297	Q9UGM1	ACHA9_HUMAN	S	297	ENSP00000312663:P297S	ENSP00000312663:P297S	P	+	1	0	CHRNA9	40046179	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCC		0.498	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1	0			4:40351422
ITPR1	3708	broad.mit.edu	37	3	4722339	4722339	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:4722339G>A	ENST00000443694.2	+	22	3025	c.3025G>A	c.(3025-3027)Gga>Aga	p.G1009R	ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1024R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1015R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1024					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AACATCCTCCGGAAACAGCAG	0.433																																						ENST00000354582.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(3070-3072)Gga>Aga		inositol 1,4,5-trisphosphate receptor, type 1							61.0	60.0	60.0					3																	4722339		1876	4104	5980	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4722339G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3025G>A	3.37:g.4722339G>A	ENSP00000401671:p.Gly1009Arg	False	False		Somatic	0				ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1009R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1015R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R	p.G1024R			WXS	Illumina HiSeq	Phase_I	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	25	3420	+			1024					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.3070G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700462	0.48307	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.56	5.56	0.83823	.	0.236966	0.43260	D	0.000598	T	0.50735	0.1633	M	0.69358	2.11	0.80722	D	1	B;B;P	0.36837	0.308;0.311;0.571	B;B;B	0.32090	0.027;0.02;0.14	T	0.50320	-0.8842	10	0.26408	T	0.33	.	17.7004	0.88293	0.0:0.0:1.0:0.0	.	1009;1024;1015	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	R	1024;1009;1024;1015;1015;1000;1009	ENSP00000306253:G1009R;ENSP00000346595:G1024R;ENSP00000405934:G1015R;ENSP00000349597:G1015R;ENSP00000397885:G1000R;ENSP00000401671:G1009R	ENSP00000306253:G1009R	G	+	1	0	ITPR1	4697339	1.000000	0.71417	0.968000	0.41197	0.959000	0.62525	6.688000	0.74557	2.599000	0.87857	0.591000	0.81541	GGA		0.433	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	0	NM_002222		3:4722339
PRADC1	84279	broad.mit.edu	37	2	73457283	73457283	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73457283G>A	ENST00000258083.2	-	2	193	c.126C>T	c.(124-126)taC>taT	p.Y42Y	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	42						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						CTGTGAAGATGTATCGAATGT	0.488																																						ENST00000258083.2		NA																	0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(124-126)taC>taT		protease-associated domain containing 1							81.0	74.0	76.0					2																	73457283		2203	4300	6503	SO:0001819	synonymous_variant	84279					extracellular region		g.chr2:73457283G>A	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.126C>T	2.37:g.73457283G>A		False	False		Somatic	0				PRADC1_ENST00000480093.1_5'UTR	p.Y42Y	NM_032319.1	NP_115695.1	WXS	Illumina HiSeq	Phase_I	Q9BSG0	PADC1_HUMAN			2	193	-			42					Q2Z1P2	Silent	SNP	ENST00000258083.2	37	c.126C>T	CCDS1924.1																																																																																				0.488	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	0	NM_032319		2:73457283
AGL	178	broad.mit.edu	37	1	100336383	100336383	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:100336383G>A	ENST00000294724.4	+	7	1394	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	AGL_ENST00000370165.3_Missense_Mutation_p.V306I|AGL_ENST00000370161.2_Missense_Mutation_p.V290I|AGL_ENST00000370163.3_Missense_Mutation_p.V306I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I|AGL_ENST00000361302.3_Missense_Mutation_p.V290I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	306					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCAAGTAGATGTCAACAAAGC	0.303																																						ENST00000294724.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(916-918)Gtc>Atc		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							34.0	39.0	37.0					1																	100336383		2176	4279	6455	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100336383G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.916G>A	1.37:g.100336383G>A	ENSP00000294724:p.Val306Ile	False	False		Somatic	0				AGL_ENST00000370161.2_Missense_Mutation_p.V290I|AGL_ENST00000370165.3_Missense_Mutation_p.V306I|AGL_ENST00000370163.3_Missense_Mutation_p.V306I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I|AGL_ENST00000361302.3_Missense_Mutation_p.V290I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I	p.V306I	NM_000028.2	NP_000019.2	WXS	Illumina HiSeq	Phase_I	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	7	1394	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	306					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.916G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	g	5.406	0.260007	0.10239	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.34	1.41	0.22369	Glycoside hydrolase, superfamily (1);	0.273612	0.36101	N	0.002797	T	0.60843	0.2300	L	0.39898	1.24	0.09310	N	0.999996	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.14578	0.011;0.011;0.007	T	0.53760	-0.8393	10	0.30078	T	0.28	.	9.6993	0.40175	0.2549:0.0:0.7451:0.0	.	289;290;306	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	I	306;306;306;306;290;290;289	ENSP00000355106:V306I;ENSP00000359184:V306I;ENSP00000359182:V306I;ENSP00000294724:V306I;ENSP00000354971:V290I;ENSP00000359180:V290I;ENSP00000354635:V289I	ENSP00000294724:V306I	V	+	1	0	AGL	100108971	0.990000	0.36364	0.001000	0.08648	0.123000	0.20343	2.092000	0.41700	0.073000	0.16731	-0.796000	0.03273	GTC		0.303	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	0	NM_000028		1:100336383
NCKAP5L	57701	broad.mit.edu	37	12	50191075	50191075	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:50191075T>A	ENST00000335999.6	-	8	769	c.568A>T	c.(568-570)Att>Ttt	p.I190F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	186	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACCTCCAGAATCTGGGCCTTC	0.682																																						ENST00000335999.6		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(568-570)Att>Ttt		NCK-associated protein 5-like							24.0	28.0	27.0					12																	50191075		1906	4117	6023	SO:0001583	missense	57701							g.chr12:50191075T>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.568A>T	12.37:g.50191075T>A	ENSP00000337998:p.Ile190Phe	False	False		Somatic	0					p.I190F	NM_001037806.3	NP_001032895.2	WXS	Illumina HiSeq	Phase_I	Q9HCH0	NCK5L_HUMAN			8	769	-			186			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.568A>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465970	0.84425	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.63913	-0.07	4.3	4.3	0.51218	.	.	.	.	.	T	0.71204	0.3312	L	0.42245	1.32	0.47153	D	0.999339	D	0.76494	0.999	D	0.87578	0.998	T	0.73372	-0.4003	9	0.59425	D	0.04	-4.9163	12.7587	0.57350	0.0:0.0:0.0:1.0	.	186	E2QRB5	.	F	190;186	ENSP00000337998:I190F	ENSP00000337998:I190F	I	-	1	0	NCKAP5L	48477342	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.480000	0.53172	1.717000	0.51406	0.379000	0.24179	ATT		0.682	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	0	XM_035497		12:50191075
ALPK2	115701	broad.mit.edu	37	18	56246544	56246544	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:56246544A>T	ENST00000361673.3	-	4	1677	c.1464T>A	c.(1462-1464)gaT>gaA	p.D488E	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	488						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTACTGATTCATCCATGTTGA	0.493											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3		NA																	0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1462-1464)gaT>gaA		alpha-kinase 2							148.0	149.0	148.0					18																	56246544		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246544A>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1464T>A	18.37:g.56246544A>T	ENSP00000354991:p.Asp488Glu	False	False		Somatic	0	OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.D488E	NM_052947.3	NP_443179.3	WXS	Illumina HiSeq	Phase_I	Q86TB3	ALPK2_HUMAN			4	1677	-			488					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1464T>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251969	0.22880	.	.	ENSG00000198796	ENST00000361673	T	0.54479	0.57	5.34	-0.259	0.12971	.	0.515524	0.15105	N	0.280317	T	0.31231	0.0790	L	0.33485	1.01	0.09310	N	1	B	0.32829	0.386	B	0.24269	0.052	T	0.09122	-1.0689	10	0.35671	T	0.21	-8.4846	4.6008	0.12352	0.3972:0.4204:0.0685:0.1138	.	488	Q86TB3	ALPK2_HUMAN	E	488	ENSP00000354991:D488E	ENSP00000354991:D488E	D	-	3	2	ALPK2	54397524	0.027000	0.19231	0.028000	0.17463	0.004000	0.04260	0.054000	0.14205	-0.291000	0.09012	-0.313000	0.08912	GAT		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	0	NM_052947		18:56246544
TOP2B	7155	broad.mit.edu	37	3	25674236	25674236	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:25674236A>G	ENST00000264331.4	-	9	1075	c.1076T>C	c.(1075-1077)aTt>aCt	p.I359T	TOP2B_ENST00000435706.2_Missense_Mutation_p.I354T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	359					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AACTACTTCAATCAGTTTACC	0.328																																						ENST00000435706.2		NA																	0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1060-1062)aTt>aCt		topoisomerase (DNA) II beta 180kDa							155.0	152.0	153.0					3																	25674236		1859	4094	5953	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25674236A>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1076T>C	3.37:g.25674236A>G	ENSP00000264331:p.Ile359Thr	False	False		Somatic	0				TOP2B_ENST00000264331.4_Missense_Mutation_p.I359T	p.I354T			WXS	Illumina HiSeq	Phase_I	Q02880	TOP2B_HUMAN			9	1262	-			359					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.1061T>C		.	.	.	.	.	.	.	.	.	.	A	17.51	3.408676	0.62399	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.46063	0.88;0.88	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.53561	1.675	0.80722	D	1	B	0.25048	0.117	B	0.29440	0.102	T	0.37337	-0.9710	10	0.54805	T	0.06	-15.1386	15.4062	0.74881	1.0:0.0:0.0:0.0	.	354	Q02880-2	.	T	354;359;354	ENSP00000396704:I354T;ENSP00000264331:I359T	ENSP00000264331:I359T	I	-	2	0	TOP2B	25649240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.059000	0.93902	2.032000	0.59987	0.528000	0.53228	ATT		0.328	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0			3:25674236
TONSL	4796	broad.mit.edu	37	8	145660399	145660399	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:145660399C>T	ENST00000409379.3	-	19	3036		c.e19+1		AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein						cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTGCGGCTCACCTCGTCATTG	0.697																																						ENST00000409379.3		NA																	0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.e19+1		tonsoku-like, DNA repair protein							22.0	24.0	23.0					8																	145660399		2200	4299	6499	SO:0001630	splice_region_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145660399C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3006+1G>A	8.37:g.145660399C>T		False	False		Somatic	0						NM_013432.4	NP_038460.4	WXS	Illumina HiSeq	Phase_I	Q96HA7	TONSL_HUMAN			19	3036	-			NA					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Splice_Site	SNP	ENST00000409379.3	37		CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774814	0.49786	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3613	0.74478	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TONSL	145631207	1.000000	0.71417	0.965000	0.40720	0.431000	0.31685	7.097000	0.76967	2.218000	0.71995	0.491000	0.48974	.		0.697	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	0	NM_013432	Intron	8:145660399
KCNA6	3742	broad.mit.edu	37	12	4920011	4920011	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:4920011G>A	ENST00000280684.3	+	1	1670	c.804G>A	c.(802-804)acG>acA	p.T268T	KCNA6_ENST00000433855.1_Silent_p.T268T|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TGGTGGAGACGCTGTGCATTG	0.562										HNSCC(72;0.22)																												ENST00000433855.1		NA																	0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(802-804)acG>acA		potassium voltage-gated channel, shaker-related subfamily, member 6							89.0	88.0	89.0					12																	4920011		2203	4300	6503	SO:0001819	synonymous_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920011G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.804G>A	12.37:g.4920011G>A		False	False	HNSCC(72;0.22)	Somatic	0				KCNA6_ENST00000280684.3_Silent_p.T268T	p.T268T	NM_002235.3	NP_002226.1	WXS	Illumina HiSeq	Phase_I	P17658	KCNA6_HUMAN			1	1670	+			268						Silent	SNP	ENST00000280684.3	37	c.804G>A	CCDS8534.1																																																																																				0.562	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	0	NM_002235		12:4920011
TRIB2	28951	broad.mit.edu	37	2	12858610	12858610	+	Silent	SNP	T	T	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:12858610T>G	ENST00000405331.3	+	1	247	c.177T>G	c.(175-177)tcT>tcG	p.S59S	RP11-333O1.1_ENST00000569860.1_lincRNA|TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000155926.4_Silent_p.S59S					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATTGCGTTTCTTGTATCGGGA	0.567											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000155926.4		NA																	0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(175-177)tcT>tcG		tribbles pseudokinase 2							77.0	82.0	80.0					2																	12858610		2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12858610T>G	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.177T>G	2.37:g.12858610T>G		False	False		Somatic	0	OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000405331.3_Silent_p.S59S	p.S59S	NM_021643.3	NP_067675.1	WXS	Illumina HiSeq	Phase_I	Q92519	TRIB2_HUMAN			1	1596	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		59						Silent	SNP	ENST00000405331.3	37	c.177T>G																																																																																					0.567	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	0	NM_021643		2:12858610
CTNND2	1501	broad.mit.edu	37	5	10973809	10973809	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:10973809A>C	ENST00000304623.8	-	22	3623	c.3434T>G	c.(3433-3435)gTc>gGc	p.V1145G	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G|CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G|CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1145					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCTGTGGGACTGGCTGTGC	0.522																																						ENST00000304623.8		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(3433-3435)gTc>gGc		catenin (cadherin-associated protein), delta 2							85.0	77.0	79.0					5																	10973809		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10973809A>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3434T>G	5.37:g.10973809A>C	ENSP00000307134:p.Val1145Gly	True	False		Somatic	0				CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G|CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G	p.V1145G	NM_001332.2	NP_001323.1	WXS	Illumina HiSeq	Phase_I	Q9UQB3	CTND2_HUMAN			22	3623	-			1145					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3434T>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	6.986	0.551943	0.13374	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78595	-1.08;-1.15;-1.07;-1.19;-1.19	5.93	2.29	0.28610	.	0.757929	0.12479	N	0.465306	T	0.57021	0.2025	N	0.08118	0	0.80722	D	1	B;B;B	0.26318	0.002;0.035;0.146	B;B;B	0.24974	0.004;0.012;0.057	T	0.35943	-0.9768	10	0.26408	T	0.33	-15.0539	9.4259	0.38578	0.8:0.0:0.2:0.0	.	808;737;1145	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	G	1145;1087;1054;240;712;808	ENSP00000307134:V1145G;ENSP00000352661:V1087G;ENSP00000426510:V1054G;ENSP00000391155:V712G;ENSP00000426887:V808G	ENSP00000307134:V1145G	V	-	2	0	CTNND2	11026809	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.062000	0.57492	0.162000	0.19483	0.533000	0.62120	GTC		0.522	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	0	NM_001332		5:10973809
NCAPD2	9918	broad.mit.edu	37	12	6631057	6631057	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:6631057C>T	ENST00000315579.5	+	15	2607	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	603	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCAATATGTCGGATCCTGAG	0.483																																						ENST00000315579.5		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1807-1809)tCg>tTg		non-SMC condensin I complex, subunit D2							107.0	102.0	104.0					12																	6631057		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6631057C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1808C>T	12.37:g.6631057C>T	ENSP00000325017:p.Ser603Leu	False	False		Somatic	0				NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	p.S603L	NM_014865.3	NP_055680.3	WXS	Illumina HiSeq	Phase_I	Q15021	CND1_HUMAN			15	2607	+			603			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.1808C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	6.832	0.522777	0.13066	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.31769	2.49;1.48;2.22	4.69	0.379	0.16213	Armadillo-type fold (1);	0.958927	0.08648	N	0.914555	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.001	T	0.30179	-0.9987	10	0.29301	T	0.29	0.0031	7.6424	0.28300	0.1363:0.5837:0.0:0.28	.	558;564;603	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	L	603;475;558;475	ENSP00000325017:S603L;ENSP00000371895:S475L;ENSP00000444417:S558L	ENSP00000325017:S603L	S	+	2	0	NCAPD2	6501318	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.426000	0.07008	-0.050000	0.13356	-1.736000	0.00690	TCG		0.483	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	0	NM_014865		12:6631057
PPWD1	23398	broad.mit.edu	37	5	64868000	64868000	+	Missense_Mutation	SNP	G	G	A	rs150307628		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:64868000G>A	ENST00000261308.5	+	5	928	c.856G>A	c.(856-858)Gta>Ata	p.V286I	PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I|PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	286					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCCAACCAGCGTATGTTTTTC	0.348													A|||	1	0.000199681	0.0	0.0	5008	,	,		18017	0.0		0.001	False		,,,				2504	0.0					ENST00000261308.5		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(856-858)Gta>Ata		peptidylprolyl isomerase domain and WD repeat containing 1		A	ILE/VAL	1,4405	798.9+/-415.5	0,1,2202	65.0	71.0	69.0		856	5.6	1.0	5	dbSNP_134	69	3,8597	814.0+/-407.0	0,3,4297	yes	missense	PPWD1	NM_015342.2	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	286/647	64868000	4,13002	2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64868000G>A	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.856G>A	5.37:g.64868000G>A	ENSP00000261308:p.Val286Ile	False	False		Somatic	0				PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I|PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I	p.V286I	NM_015342.3	NP_056157.1	WXS	Illumina HiSeq	Phase_I	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	5	928	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	286					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.856G>A	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	A	8.826	0.938643	0.18206	2.27E-4	3.49E-4	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098404	0.64402	N	0.000003	T	0.44095	0.1277	L	0.38838	1.175	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28808	-1.0032	10	0.09338	T	0.73	.	11.6254	0.51142	0.9304:0.0:0.0695:0.0	.	256;286	F5H7P7;Q96BP3	.;PPWD1_HUMAN	I	286;256;130;205	ENSP00000261308:V286I;ENSP00000442371:V256I;ENSP00000444496:V130I;ENSP00000423234:V205I	ENSP00000261308:V286I	V	+	1	0	PPWD1	64903756	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.661000	0.61518	0.955000	0.37878	-0.361000	0.07541	GTA		0.348	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	0	NM_015342		5:64868000
PAMR1	25891	broad.mit.edu	37	11	35513689	35513689	+	Nonsense_Mutation	SNP	G	G	A	rs368867348		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:35513689G>A	ENST00000378880.2	-	3	728	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	95						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAGCCATTTCGGCAGCTCTTG	0.522																																						ENST00000378880.2		NA																	0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(283-285)Cga>Tga		peptidase domain containing associated with muscle regeneration 1		G	stop/ARG,stop/ARG	1,4403	2.1+/-5.4	0,1,2201	183.0	179.0	181.0		283,283	3.1	1.0	11		181	0,8596		0,0,4298	no	stop-gained,stop-gained	PAMR1	NM_001001991.1,NM_015430.2	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	95/721,95/738	35513689	1,12999	2202	4298	6500	SO:0001587	stop_gained	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513689G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.283C>T	11.37:g.35513689G>A	ENSP00000368158:p.Arg95*	False	False		Somatic	0				PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*	p.R95*	NM_001001991.1	NP_001001991.1	WXS	Illumina HiSeq	Phase_I	Q6UXH9	PAMR1_HUMAN			3	728	-			95					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Nonsense_Mutation	SNP	ENST00000378880.2	37	c.283C>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	41	9.063677	0.99053	2.27E-4	0.0	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	.	.	.	5.05	3.08	0.35506	.	0.459441	0.22469	N	0.059650	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6536	0.56776	0.0:0.0:0.5742:0.4258	.	.	.	.	X	95;95;95;55;55;95	.	ENSP00000278360:R95X	R	-	1	2	PAMR1	35470265	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	3.430000	0.52807	0.471000	0.27319	0.491000	0.48974	CGA		0.522	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	0	NM_015430		11:35513689
RAB3GAP1	22930	broad.mit.edu	37	2	135888166	135888166	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:135888166G>A	ENST00000264158.8	+	13	1154	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A371T|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A327T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	371					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GACAGAGCCGGCATCAGTTCC	0.348																																						ENST00000264158.8		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1111-1113)Gca>Aca		RAB3 GTPase activating protein subunit 1 (catalytic)							53.0	56.0	55.0					2																	135888166		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135888166G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1111G>A	2.37:g.135888166G>A	ENSP00000264158:p.Ala371Thr	False	False		Somatic	0				RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A327T|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A371T	p.A371T	NM_012233.2	NP_036365.1	WXS	Illumina HiSeq	Phase_I	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	13	1154	+			371					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.1111G>A	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707287	0.30322	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.70869	-0.52;-0.52;-0.52	5.29	-0.65	0.11457	.	0.523000	0.21267	N	0.077395	T	0.52645	0.1747	L	0.29908	0.895	0.45139	D	0.998159	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31971	-0.9924	10	0.17369	T	0.5	-3.5373	11.575	0.50856	0.1823:0.0:0.8177:0.0	.	371;371	C9J837;Q15042	.;RB3GP_HUMAN	T	371;327;371	ENSP00000264158:A371T;ENSP00000444306:A327T;ENSP00000411418:A371T	ENSP00000264158:A371T	A	+	1	0	RAB3GAP1	135604636	1.000000	0.71417	0.729000	0.30791	0.384000	0.30261	2.085000	0.41634	-0.209000	0.10156	-0.964000	0.02622	GCA		0.348	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	0	NM_012233		2:135888166
OR2Y1	134083	broad.mit.edu	37	5	180166545	180166545	+	Nonsense_Mutation	SNP	G	G	A	rs372667309		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:180166545G>A	ENST00000307832.2	-	1	554	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATTCAGTCGATGGCCACAG	0.542																																						ENST00000307832.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(514-516)Cga>Tga		olfactory receptor, family 2, subfamily Y, member 1		G	stop/ARG	0,4406		0,0,2203	60.0	54.0	56.0		514	2.6	0.0	5		56	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR2Y1	NM_001001657.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		172/312	180166545	1,13005	2203	4300	6503	SO:0001587	stop_gained	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166545G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.514C>T	5.37:g.180166545G>A	ENSP00000312403:p.Arg172*	False	False		Somatic	0					p.R172*	NM_001001657.1	NP_001001657.1	WXS	Illumina HiSeq	Phase_I	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	554	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	172					B9EIP1|Q6IFB1|Q96R16	Nonsense_Mutation	SNP	ENST00000307832.2	37	c.514C>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327676	0.60743	0.0	1.16E-4	ENSG00000174339	ENST00000307832	.	.	.	4.41	2.59	0.31030	.	3.529880	0.00714	N	0.000849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0741	0.25195	0.0936:0.0:0.7351:0.1713	.	.	.	.	X	172	.	ENSP00000312403:R172X	R	-	1	2	OR2Y1	180099151	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.967000	0.01508	0.572000	0.29383	0.511000	0.50034	CGA		0.542	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	0	XM_068682		5:180166545
PDCD2L	84306	broad.mit.edu	37	19	34912428	34912428	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:34912428T>C	ENST00000246535.3	+	6	849	c.802T>C	c.(802-804)Tcc>Ccc	p.S268P	PDCD2L_ENST00000587065.2_5'UTR|RN7SL154P_ENST00000578043.1_RNA	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	268					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCCTAGGTATTCCTGGAGTGG	0.493																																						ENST00000246535.3		NA																	0				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(802-804)Tcc>Ccc		programmed cell death 2-like							198.0	213.0	208.0					19																	34912428		2203	4300	6503	SO:0001583	missense	84306					cytoplasm		g.chr19:34912428T>C	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.802T>C	19.37:g.34912428T>C	ENSP00000246535:p.Ser268Pro	False	False		Somatic	0				PDCD2L_ENST00000587065.2_5'UTR	p.S268P	NM_032346.1	NP_115722.1	WXS	Illumina HiSeq	Phase_I	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	849	+	Esophageal squamous(110;0.162)		268						Missense_Mutation	SNP	ENST00000246535.3	37	c.802T>C	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.486734	0.63962	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	4.94	0.65067	Programmed cell death protein 2, C-terminal (1);	0.144113	0.64402	D	0.000004	T	0.81451	0.4825	M	0.91196	3.185	0.41755	D	0.989686	D	0.76494	0.999	D	0.73708	0.981	D	0.83431	0.0038	9	0.48119	T	0.1	-15.8635	11.5108	0.50492	0.1347:0.0:0.0:0.8653	.	268	Q9BRP1	PDD2L_HUMAN	P	268	.	ENSP00000246535:S268P	S	+	1	0	PDCD2L	39604268	1.000000	0.71417	0.999000	0.59377	0.749000	0.42624	3.088000	0.50175	1.048000	0.40298	0.477000	0.44152	TCC		0.493	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	0	NM_032346		19:34912428
CBLL1	79872	broad.mit.edu	37	7	107398626	107398626	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:107398626G>A	ENST00000440859.3	+	6	946	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q|CBLL1_ENST00000415884.2_3'UTR	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	160	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CAGTGTACACGAGGTTCTCTC	0.378																																						ENST00000440859.2		NA																	0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(478-480)cGa>cAa		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							107.0	95.0	99.0					7																	107398626		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107398626G>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.479G>A	7.37:g.107398626G>A	ENSP00000401277:p.Arg160Gln	False	False		Somatic	0				CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q	p.R160Q	NM_024814.2	NP_079090.2	WXS	Illumina HiSeq	Phase_I	Q75N03	HAKAI_HUMAN			6	946	+			160					B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.479G>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860457	0.71834	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.32753	1.45;1.44;1.48	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.77004	0.989;0.755	T	0.36432	-0.9748	10	0.28530	T	0.3	-2.0467	15.7175	0.77681	0.0:0.1374:0.8626:0.0	.	159;160	B7ZM03;Q75N03	.;HAKAI_HUMAN	Q	160;39;159;110;106	ENSP00000401277:R160Q;ENSP00000222597:R159Q;ENSP00000410615:R110Q	ENSP00000222597:R159Q	R	+	2	0	CBLL1	107185862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.543000	0.98089	1.259000	0.44117	0.655000	0.94253	CGA		0.378	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	0	NM_024814		7:107398626
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578406
FAT2	2196	broad.mit.edu	37	5	150923873	150923873	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150923873A>G	ENST00000261800.5	-	9	6827	c.6815T>C	c.(6814-6816)tTt>tCt	p.F2272S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2272	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAATTGGGAAAAAGTGGGAGG	0.517																																						ENST00000261800.5		NA																	0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6814-6816)tTt>tCt		FAT atypical cadherin 2							100.0	99.0	100.0					5																	150923873		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923873A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6815T>C	5.37:g.150923873A>G	ENSP00000261800:p.Phe2272Ser	True	False		Somatic	0					p.F2272S	NM_001447.2	NP_001438.1	WXS	Illumina HiSeq	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6827	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2272			Cadherin 19.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6815T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513047	0.64522	.	.	ENSG00000086570	ENST00000261800	T	0.32023	1.47	5.68	5.68	0.88126	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.69860	0.3158	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81348	-0.0973	10	0.87932	D	0	.	15.938	0.79729	1.0:0.0:0.0:0.0	.	2272	Q9NYQ8	FAT2_HUMAN	S	2272	ENSP00000261800:F2272S	ENSP00000261800:F2272S	F	-	2	0	FAT2	150904066	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.252000	0.95491	2.167000	0.68274	0.459000	0.35465	TTT		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	NM_001447		5:150923873
DCHS2	54798	broad.mit.edu	37	4	155156138	155156138	+	Silent	SNP	C	C	T	rs572747172		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:155156138C>T	ENST00000357232.4	-	25	8300	c.8301G>A	c.(8299-8301)acG>acA	p.T2767T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2767					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCAGAGGTCGTCTGAGTTG	0.418																																						ENST00000357232.3		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(8299-8301)acG>acA		dachsous cadherin-related 2							100.0	95.0	97.0					4																	155156138		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156138C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8301G>A	4.37:g.155156138C>T		False	False		Somatic	0					p.T2767T	NM_017639.3	NP_060109.2	WXS	Illumina HiSeq	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8300	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2767					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.8301G>A	CCDS3785.1																																																																																				0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	0	NM_001142552		4:155156138
FIGNL1	63979	broad.mit.edu	37	7	50513641	50513641	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:50513641G>T	ENST00000419119.1	-	2	2898	c.1345C>A	c.(1345-1347)Cta>Ata	p.L449I	FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	449					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.L449L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGCCAATTAGAGTTTTACCA	0.458																																						ENST00000419119.1		NA																	1	Substitution - coding silent(1)	p.L449L(1)	upper_aerodigestive_tract(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1345-1347)Cta>Ata		fidgetin-like 1							52.0	53.0	53.0					7																	50513641		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513641G>T	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1345C>A	7.37:g.50513641G>T	ENSP00000410811:p.Leu449Ile	False	False		Somatic	0				FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I	p.L449I			WXS	Illumina HiSeq	Phase_I	Q6PIW4	FIGL1_HUMAN			2	2898	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	449					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1345C>A	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031312	0.75504	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68	5.99	4.18	0.49190	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	D	0.97573	0.9205	M	0.92970	3.365	0.80722	D	1	D	0.64830	0.994	D	0.76071	0.987	D	0.98137	1.0434	10	0.72032	D	0.01	-9.5128	12.3571	0.55182	0.1376:0.0:0.8624:0.0	.	449	Q6PIW4	FIGL1_HUMAN	I	449	ENSP00000349356:L449I;ENSP00000378924:L449I;ENSP00000399997:L449I;ENSP00000410811:L449I	ENSP00000349356:L449I	L	-	1	2	FIGNL1	50481135	1.000000	0.71417	0.899000	0.35326	0.997000	0.91878	6.779000	0.75057	1.538000	0.49270	0.655000	0.94253	CTA		0.458	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	0	NM_001042762		7:50513641
EXOC7	23265	broad.mit.edu	37	17	74097870	74097870	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:74097870C>T	ENST00000335146.7	-	3	254	c.201G>A	c.(199-201)acG>acA	p.T67T	EXOC7_ENST00000411744.2_Silent_p.T67T|EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000405575.4_Silent_p.T67T|EXOC7_ENST00000607838.1_Silent_p.T67T|EXOC7_ENST00000589210.1_Silent_p.T67T|EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	67					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGATTCTCCGTCTGCTTGT	0.522																																						ENST00000607838.1		NA																	0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(199-201)acG>acA		exocyst complex component 7							95.0	86.0	89.0					17																	74097870		2203	4300	6503	SO:0001819	synonymous_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74097870C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.201G>A	17.37:g.74097870C>T		False	False		Somatic	0				EXOC7_ENST00000589210.1_Silent_p.T67T|EXOC7_ENST00000335146.7_Silent_p.T67T|EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000411744.2_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T|EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000405575.4_Silent_p.T67T	p.T67T	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	WXS	Illumina HiSeq	Phase_I	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	295	-			67					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Silent	SNP	ENST00000335146.7	37	c.201G>A	CCDS45782.1																																																																																				0.522	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	0	NM_015219		17:74097870
LPPR2	64748	broad.mit.edu	37	19	11474857	11474857	+	Missense_Mutation	SNP	G	G	A	rs201858119		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:11474857G>A	ENST00000251473.5	+	9	1344	c.968G>A	c.(967-969)cGc>cAc	p.R323H	DKFZP761J1410_ENST00000591608.1_Silent_p.P303P	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCTGCAGGCCGCATTCGACAC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		13187	0.0		0.001	False		,,,				2504	0.0					ENST00000251473.5		NA																	0					NA						c.(967-969)cGc>cAc									68.0	78.0	75.0					19																	11474857		2203	4300	6503	SO:0001583	missense	0							g.chr19:11474857G>A																												ENST00000251473.5:c.968G>A	19.37:g.11474857G>A	ENSP00000251473:p.Arg323His	False	False		Somatic	0				DKFZP761J1410_ENST00000591608.1_Silent_p.P303P	p.R323H	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2	WXS	Illumina HiSeq	Phase_I					9	1344	+			NA						Missense_Mutation	SNP	ENST00000251473.5	37	c.968G>A	CCDS12258.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.04	3.011123	0.54361	.	.	ENSG00000105520	ENST00000251473	T	0.32023	1.47	4.83	2.39	0.29439	.	2.078530	0.01797	N	0.032683	T	0.23532	0.0569	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30001	-0.9993	9	0.31617	T	0.26	.	5.8218	0.18532	0.1106:0.2557:0.6337:0.0	.	323	Q96GM1	LPPR2_HUMAN	H	323	ENSP00000251473:R323H	ENSP00000251473:R323H	R	+	2	0	AC024575.1	11335857	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.890000	0.39728	1.168000	0.42723	0.313000	0.20887	CGC		0.647	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1	0			19:11474857
COL24A1	255631	broad.mit.edu	37	1	86590761	86590761	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:86590761C>T	ENST00000370571.2	-	3	1624	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	420					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.E420*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCATGAGTTCGTTAGTGTGT	0.358																																						ENST00000370571.2		NA																	1	Substitution - Nonsense(1)	p.E420*(1)	upper_aerodigestive_tract(1)	NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1258-1260)Gaa>Aaa		collagen, type XXIV, alpha 1							154.0	130.0	137.0					1																	86590761		1866	4104	5970	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590761C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1258G>A	1.37:g.86590761C>T	ENSP00000359603:p.Glu420Lys	False	False		Somatic	0				COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	p.E420K	NM_152890.5	NP_690850.2	WXS	Illumina HiSeq	Phase_I	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1624	-			420					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1258G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.026954	0.19512	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.11821	2.74;2.74	5.45	3.24	0.37175	.	0.000000	0.40640	N	0.001059	T	0.02418	0.0074	N	0.19112	0.55	0.35766	D	0.820548	B;B	0.27791	0.189;0.046	B;B	0.25506	0.061;0.005	T	0.29119	-1.0022	10	0.07990	T	0.79	.	10.6098	0.45415	0.0:0.8214:0.0:0.1786	.	420;420	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	420	ENSP00000359603:E420K;ENSP00000392531:E420K	ENSP00000359603:E420K	E	-	1	0	COL24A1	86363349	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.119000	0.41958	1.307000	0.44944	0.563000	0.77884	GAA		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	0	NM_152890		1:86590761
MAGEL2	54551	broad.mit.edu	37	15	23890209	23890209	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:23890209G>A	ENST00000532292.1	-	1	966	c.872C>T	c.(871-873)gCc>gTc	p.A291V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	174					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTCCTCTTGGGCTTCCAGATG	0.632																																						ENST00000532292.1		NA																	0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(871-873)gCc>gTc		MAGE-like 2							46.0	53.0	51.0					15																	23890209		2177	4288	6465	SO:0001583	missense	54551							g.chr15:23890209G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.872C>T	15.37:g.23890209G>A	ENSP00000433433:p.Ala291Val	True	False		Somatic	0					p.A291V	NM_019066.4	NP_061939.3	WXS	Illumina HiSeq	Phase_I				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	966	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	NA						Missense_Mutation	SNP	ENST00000532292.1	37	c.872C>T		.	.	.	.	.	.	.	.	.	.	G	7.175	0.588375	0.13812	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.22	3.3	0.37823	.	.	.	.	.	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19877	-1.0292	5	.	.	.	.	7.8726	0.29576	0.1098:0.0:0.8901:0.0	.	.	.	.	S	323	.	.	P	-	1	0	MAGEL2	21441302	0.001000	0.12720	0.002000	0.10522	0.299000	0.27559	0.810000	0.27183	1.364000	0.46038	0.655000	0.94253	CCC		0.632	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	0	NM_019066		15:23890209
CCL8	6355	broad.mit.edu	37	17	32647821	32647821	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:32647821C>T	ENST00000394620.1	+	3	661	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	65					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCCCCCACAGCTTCAAGACCA	0.512																																						ENST00000394620.1		NA																	0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.e3-1		chemokine (C-C motif) ligand 8							70.0	59.0	63.0					17																	32647821		2203	4300	6503	SO:0001630	splice_region_variant	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32647821C>T	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.195-1C>T	17.37:g.32647821C>T		False	False		Somatic	0					p.I65_splice	NM_005623.2	NP_005614.2	WXS	Illumina HiSeq	Phase_I	P80075	CCL8_HUMAN			3	661	+		Ovarian(249;0.0443)|Breast(31;0.151)	65					A0AV77|P78388	Splice_Site	SNP	ENST00000394620.1	37	c.194_splice	CCDS11280.1																																																																																				0.512	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	0	NM_005623	Silent	17:32647821
ITGA6	3655	broad.mit.edu	37	2	173333979	173333979	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:173333979T>A	ENST00000264106.6	+	4	717	c.514T>A	c.(514-516)Tgg>Agg	p.W172R	ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R|ITGA6_ENST00000375221.2_Missense_Mutation_p.W172R|ITGA6_ENST00000264107.7_Missense_Mutation_p.W172R|ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R			P23229	ITA6_HUMAN	integrin, alpha 6	172					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGGGGGAGATTGGAGCTTTTG	0.448																																						ENST00000375221.2		NA																	0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(514-516)Tgg>Agg		integrin, alpha 6							176.0	169.0	171.0					2																	173333979		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173333979T>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.514T>A	2.37:g.173333979T>A	ENSP00000264106:p.Trp172Arg	False	False		Somatic	0				ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R|ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R|ITGA6_ENST00000264107.7_Missense_Mutation_p.W172R|ITGA6_ENST00000264106.6_Missense_Mutation_p.W172R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R	p.W172R			WXS	Illumina HiSeq	Phase_I	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		4	717	+			172					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.514T>A		.	.	.	.	.	.	.	.	.	.	T	18.32	3.597715	0.66332	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.77406	2.37	0.80722	D	1	B;B;P	0.43578	0.313;0.448;0.811	B;P;P	0.54346	0.279;0.55;0.749	T	0.66748	-0.5845	10	0.33141	T	0.24	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	172;172;172	P23229-4;G5E9H1;P23229-2	.;.;.	R	58;58;172;172;172;172;172;172;172	ENSP00000413470:W58R;ENSP00000386614:W58R;ENSP00000264107:W172R;ENSP00000264106:W172R;ENSP00000364369:W172R;ENSP00000341078:W172R;ENSP00000386896:W172R;ENSP00000406694:W172R;ENSP00000394169:W172R	ENSP00000264106:W172R	W	+	1	0	ITGA6	173042225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TGG		0.448	ITGA6-201	KNOWN	basic	protein_coding	protein_coding		0			2:173333979
TNPO1	3842	broad.mit.edu	37	5	72195908	72195908	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:72195908G>A	ENST00000337273.5	+	21	2840	c.2414G>A	c.(2413-2415)tGg>tAg	p.W805*	TNPO1_ENST00000454282.1_Splice_Site_p.W755*|TNPO1_ENST00000523768.1_Splice_Site_p.W755*|TNPO1_ENST00000506351.2_Splice_Site_p.W797*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	805					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.W797*(1)|p.W797L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATAAGACCCTGGTGTGTATTA	0.348																																						ENST00000337273.5		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.W797*(1)|p.W797L(1)	urinary_tract(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.e21+1		transportin 1							180.0	167.0	171.0					5																	72195908		2203	4300	6503	SO:0001630	splice_region_variant	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72195908G>A	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2414+1G>A	5.37:g.72195908G>A		True	False		Somatic	0				TNPO1_ENST00000454282.1_Splice_Site_p.W755_splice|TNPO1_ENST00000506351.2_Splice_Site_p.W797_splice|TNPO1_ENST00000523768.1_Splice_Site_p.W755_splice	p.W805_splice	NM_002270.3	NP_002261.3	WXS	Illumina HiSeq	Phase_I	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	21	2840	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	805					B4DVC6|Q92957|Q92975	Splice_Site	SNP	ENST00000337273.5	37	c.2414_splice	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	38	6.879768	0.97904	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5419	19.1767	0.93605	0.0:0.0:1.0:0.0	.	.	.	.	X	805;755;755;797;316	.	ENSP00000336712:W805X	W	+	2	0	TNPO1	72231664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.619000	0.88677	0.467000	0.42956	TGG		0.348	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	0	NM_002270	Nonsense_Mutation	5:72195908
DND1	373863	broad.mit.edu	37	5	140052939	140052939	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140052939G>A	ENST00000542735.1	-	2	102	c.59C>T	c.(58-60)gCg>gTg	p.A20V	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	20					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCGCCGCCTTGTTCTC	0.642																																						ENST00000542735.1		NA																	0				central_nervous_system(1)|prostate(4)	5						c.(58-60)gCg>gTg		DND microRNA-mediated repression inhibitor 1							59.0	59.0	59.0					5																	140052939		2203	4300	6503	SO:0001583	missense	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052939G>A	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.59C>T	5.37:g.140052939G>A	ENSP00000445366:p.Ala20Val	False	False		Somatic	0				HARS_ENST00000504156.1_3'UTR	p.A20V	NM_194249.2	NP_919225.1	WXS	Illumina HiSeq	Phase_I	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	102	-			20						Missense_Mutation	SNP	ENST00000542735.1	37	c.59C>T	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290610	0.40494	.	.	ENSG00000256453	ENST00000542735	T	0.34859	1.34	4.58	4.58	0.56647	.	0.209202	0.33457	N	0.004895	T	0.20333	0.0489	N	0.20574	0.59	0.80722	D	1	P	0.35401	0.499	B	0.23716	0.048	T	0.06516	-1.0822	10	0.37606	T	0.19	-6.6743	12.0698	0.53609	0.0868:0.0:0.9132:0.0	.	20	Q8IYX4	DND1_HUMAN	V	20	ENSP00000445366:A20V	ENSP00000445366:A20V	A	-	2	0	DND1	140033123	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.251000	0.43187	2.358000	0.79984	0.462000	0.41574	GCG		0.642	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	0	NM_194249		5:140052939
DSCAM	1826	broad.mit.edu	37	21	41385178	41385178	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:41385178G>A	ENST00000400454.1	-	33	6299	c.5822C>T	c.(5821-5823)aCg>aTg	p.T1941M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1941				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAGGACCGTGGGGCGCTT	0.627																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5821-5823)aCg>aTg		Down syndrome cell adhesion molecule							38.0	41.0	40.0					21																	41385178		1960	4142	6102	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385178G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5822C>T	21.37:g.41385178G>A	ENSP00000383303:p.Thr1941Met	False	False		Somatic	0					p.T1941M	NM_001389.3	NP_001380.2	WXS	Illumina HiSeq	Phase_I	O60469	DSCAM_HUMAN			33	6299	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1941	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5822C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	19.61	3.860756	0.71834	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59638	0.25;0.36	5.29	5.29	0.74685	.	0.345440	0.33180	N	0.005197	T	0.38585	0.1046	N	0.08118	0	0.43073	D	0.994714	P	0.48640	0.913	B	0.36666	0.23	T	0.52931	-0.8509	10	0.72032	D	0.01	.	18.9499	0.92637	0.0:0.0:1.0:0.0	.	1941	O60469	DSCAM_HUMAN	M	1941;1675	ENSP00000383303:T1941M;ENSP00000385342:T1675M	ENSP00000383303:T1941M	T	-	2	0	DSCAM	40307048	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.219000	0.95173	2.464000	0.83262	0.557000	0.71058	ACG		0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	0	NM_001389		21:41385178
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_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_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_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
CPNE8	144402	broad.mit.edu	37	12	39117617	39117617	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:39117617A>T	ENST00000331366.5	-	13	967	c.871T>A	c.(871-873)Ttg>Atg	p.L291M	CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M|CPNE8_ENST00000538596.2_5'Flank	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	291						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTTTCTACCAAGAAAGAGAGT	0.328																																						ENST00000331366.5		NA																	0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(871-873)Ttg>Atg		copine VIII							92.0	91.0	91.0					12																	39117617		2203	4300	6503	SO:0001583	missense	144402							g.chr12:39117617A>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.871T>A	12.37:g.39117617A>T	ENSP00000329748:p.Leu291Met	True	False		Somatic	0				CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M	p.L291M	NM_153634.2	NP_705898.1	WXS	Illumina HiSeq	Phase_I	Q86YQ8	CPNE8_HUMAN			13	967	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	291					Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.871T>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781337	0.49891	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.25085	1.82;1.82	4.51	0.923	0.19413	.	0.174644	0.38720	N	0.001594	T	0.20047	0.0482	L	0.35854	1.095	0.48762	D	0.999705	P	0.37207	0.587	B	0.42882	0.401	T	0.03534	-1.1027	10	0.59425	D	0.04	-5.3906	4.2841	0.10846	0.582:0.1718:0.2463:0.0	.	291	Q86YQ8	CPNE8_HUMAN	M	291;279	ENSP00000329748:L291M;ENSP00000353633:L279M	ENSP00000329748:L291M	L	-	1	2	CPNE8	37403884	0.989000	0.36119	0.997000	0.53966	0.989000	0.77384	0.619000	0.24388	0.317000	0.23160	0.460000	0.39030	TTG		0.328	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	0	NM_153634		12:39117617
HIPK3	10114	broad.mit.edu	37	11	33369721	33369721	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:33369721G>C	ENST00000303296.4	+	12	2621	c.2316G>C	c.(2314-2316)ttG>ttC	p.L772F	HIPK3_ENST00000456517.1_Intron|HIPK3_ENST00000379016.3_Intron|HIPK3_ENST00000525975.1_Intron	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	772	Interaction with AR. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAGGTATTTTGGTAAAACTAA	0.363																																						ENST00000303296.4		NA																	0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(2314-2316)ttG>ttC		homeodomain interacting protein kinase 3							85.0	79.0	81.0					11																	33369721		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33369721G>C	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2316G>C	11.37:g.33369721G>C	ENSP00000304226:p.Leu772Phe	True	False		Somatic	0				HIPK3_ENST00000379016.3_Intron|HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000456517.1_Intron	p.L772F	NM_005734.3	NP_005725.3	WXS	Illumina HiSeq	Phase_I	Q9H422	HIPK3_HUMAN			12	2621	+			772			Interaction with AR (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.2316G>C	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517978	0.27211	.	.	ENSG00000110422	ENST00000303296	T	0.23348	1.91	5.74	5.74	0.90152	.	0.162090	0.29314	N	0.012518	T	0.13713	0.0332	N	0.14661	0.345	0.80722	D	1	P	0.35908	0.527	B	0.33042	0.157	T	0.12066	-1.0562	10	0.09843	T	0.71	.	13.1561	0.59518	0.0728:0.0:0.9272:0.0	.	772	Q9H422	HIPK3_HUMAN	F	772	ENSP00000304226:L772F	ENSP00000304226:L772F	L	+	3	2	HIPK3	33326297	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.785000	0.55424	2.707000	0.92482	0.557000	0.71058	TTG		0.363	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	0	NM_005734		11:33369721
CRTAC1	55118	broad.mit.edu	37	10	99696061	99696061	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:99696061G>A	ENST00000370597.3	-	3	642	c.287C>T	c.(286-288)gCg>gTg	p.A96V	CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	96						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATCGACCGCGATGTTCAC	0.662																																						ENST00000370597.3		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(286-288)gCg>gTg		cartilage acidic protein 1							59.0	50.0	53.0					10																	99696061		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696061G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.287C>T	10.37:g.99696061G>A	ENSP00000359629:p.Ala96Val	False	False		Somatic	0				CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V	p.A96V	NM_018058.6	NP_060528.3	WXS	Illumina HiSeq	Phase_I	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	642	-		Colorectal(252;0.24)	96					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.287C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184476	0.78677	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.91635	0.704;0.999	T	0.43523	-0.9386	10	0.27785	T	0.31	-10.778	17.7665	0.88480	0.0:0.0:1.0:0.0	.	96;96	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	V	96;96;88;96	ENSP00000359629:A96V;ENSP00000298819:A96V;ENSP00000310810:A88V;ENSP00000359623:A96V	ENSP00000298819:A96V	A	-	2	0	CRTAC1	99686051	1.000000	0.71417	0.892000	0.35008	0.640000	0.38277	9.725000	0.98778	2.204000	0.70986	0.313000	0.20887	GCG		0.662	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	0	NM_018058		10:99696061
KIF24	347240	broad.mit.edu	37	9	34256761	34256761	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:34256761A>G	ENST00000402558.2	-	10	2868	c.2844T>C	c.(2842-2844)taT>taC	p.Y948Y	KIF24_ENST00000379174.3_Silent_p.Y814Y|KIF24_ENST00000379166.2_Silent_p.Y948Y|KIF24_ENST00000345050.2_Silent_p.Y814Y			Q5T7B8	KIF24_HUMAN	kinesin family member 24	948					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTCCTGTCTATATATGAAAT	0.527																																						ENST00000379166.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2842-2844)taT>taC		kinesin family member 24							81.0	88.0	85.0					9																	34256761		2203	4300	6503	SO:0001819	synonymous_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256761A>G	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2844T>C	9.37:g.34256761A>G		True	False		Somatic	0				KIF24_ENST00000402558.2_Silent_p.Y948Y|KIF24_ENST00000345050.2_Silent_p.Y814Y|KIF24_ENST00000379174.3_Silent_p.Y814Y	p.Y948Y	NM_194313.2	NP_919289.2	WXS	Illumina HiSeq	Phase_I	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2963	-			948					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	c.2844T>C	CCDS6551.2																																																																																				0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5	0			9:34256761
MINA	84864	broad.mit.edu	37	3	97669652	97669652	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:97669652C>T	ENST00000333396.7	-	6	1448	c.866G>A	c.(865-867)gGc>gAc	p.G289D	MINA_ENST00000360258.4_Missense_Mutation_p.G289D|MINA_ENST00000394198.2_Missense_Mutation_p.G289D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCGGGGTATGCCGGTCCGTAA	0.532																																						ENST00000333396.6		NA																	0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(865-867)gGc>gAc		MYC induced nuclear antigen							90.0	83.0	85.0					3																	97669652		2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97669652C>T	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.866G>A	3.37:g.97669652C>T	ENSP00000328251:p.Gly289Asp	False	False		Somatic	0				MINA_ENST00000360258.4_Missense_Mutation_p.G289D|MINA_ENST00000394198.2_Missense_Mutation_p.G289D	p.G289D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	WXS	Illumina HiSeq	Phase_I	Q8IUF8	MINA_HUMAN			6	1448	-			289						Missense_Mutation	SNP	ENST00000333396.7	37	c.866G>A	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666304	0.88251	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.18502	2.21;2.21;2.21	5.91	5.91	0.95273	Cupin, JmjC-type (1);	0.044809	0.85682	D	0.000000	T	0.47820	0.1466	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	T	0.32561	-0.9902	10	0.22109	T	0.4	-16.5243	20.2985	0.98592	0.0:1.0:0.0:0.0	.	289;289	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	D	35;289;289;289	ENSP00000328251:G289D;ENSP00000377748:G289D;ENSP00000353395:G289D	ENSP00000328251:G289D	G	-	2	0	MINA	99152342	1.000000	0.71417	0.955000	0.39395	0.680000	0.39746	6.189000	0.72051	2.793000	0.96121	0.655000	0.94253	GGC		0.532	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	0	NM_032778		3:97669652
FAM181B	220382	broad.mit.edu	37	11	82444594	82444594	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:82444594G>A	ENST00000329203.3	-	1	312	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	60										large_intestine(1)|lung(2)|prostate(1)	4						GTGGCCTCGCGCACGTCCCCT	0.662																																						ENST00000329203.3		NA																	0				large_intestine(1)|lung(2)|prostate(1)	4						c.(178-180)Cgc>Tgc		family with sequence similarity 181, member B							24.0	21.0	22.0					11																	82444594		2202	4300	6502	SO:0001583	missense	220382							g.chr11:82444594G>A	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.178C>T	11.37:g.82444594G>A	ENSP00000365295:p.Arg60Cys	False	False		Somatic	0					p.R60C	NM_175885.3	NP_787081.2	WXS	Illumina HiSeq	Phase_I	A6NEQ2	F181B_HUMAN			1	312	-			60					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.178C>T	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025614	0.35701	.	.	ENSG00000182103	ENST00000329203	T	0.34275	1.37	3.79	1.62	0.23740	.	0.378309	0.21245	U	0.077752	T	0.41465	0.1160	L	0.43152	1.355	0.43919	D	0.996568	D	0.76494	0.999	D	0.63113	0.911	T	0.18366	-1.0339	9	.	.	.	.	6.0139	0.19592	0.0:0.1346:0.4145:0.4508	.	60	A6NEQ2	F181B_HUMAN	C	60	ENSP00000365295:R60C	.	R	-	1	0	FAM181B	82122242	1.000000	0.71417	0.998000	0.56505	0.004000	0.04260	2.558000	0.45879	0.771000	0.33359	-0.519000	0.04390	CGC		0.662	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	0	NM_175885		11:82444594
TRIOBP	11078	broad.mit.edu	37	22	38165362	38165362	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38165362C>T	ENST00000406386.3	+	21	7084	c.6829C>T	c.(6829-6831)Cgg>Tgg	p.R2277W	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2277					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGCAACGAGCGGAGTTCCTG	0.667																																						ENST00000406386.3		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(6829-6831)Cgg>Tgg		TRIO and F-actin binding protein							14.0	17.0	16.0					22																	38165362		1982	4164	6146	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38165362C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6829C>T	22.37:g.38165362C>T	ENSP00000384312:p.Arg2277Trp	False	False		Somatic	0				RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W	p.R2277W	NM_001039141.2	NP_001034230.1	WXS	Illumina HiSeq	Phase_I	Q9H2D6	TARA_HUMAN			21	7084	+	Melanoma(58;0.0574)		2277					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.6829C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193152	0.58017	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.23950	1.88	4.96	0.994	0.19832	.	.	.	.	.	T	0.44265	0.1285	L	0.53249	1.67	0.44711	D	0.997706	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.971;0.989;0.976	T	0.48305	-0.9047	9	0.87932	D	0	.	14.7584	0.69588	0.5226:0.4774:0.0:0.0	.	2179;266;564;2277	Q9H2D6-2;Q8TCM3;F8W6V6;Q9H2D6	.;.;.;TARA_HUMAN	W	2277;564	ENSP00000384312:R2277W	ENSP00000386026:R564W	R	+	1	2	TRIOBP	36495308	1.000000	0.71417	0.989000	0.46669	0.459000	0.32528	0.925000	0.28791	0.428000	0.26173	0.462000	0.41574	CGG		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	0			22:38165362
PCDHGA5	56110	broad.mit.edu	37	5	140745619	140745619	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140745619C>T	ENST00000518069.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACGGGCGTGGAGCTGG	0.622																																						ENST00000518069.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1720-1722)ggC>ggT									111.0	123.0	119.0					5																	140745619		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140745619C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1722C>T	5.37:g.140745619C>T		True	False		Somatic	0				PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.G574G	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1722	+			NA					Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1722C>T	CCDS54925.1																																																																																				0.622	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	0	NM_018918		5:140745619
FANCD2	2177	broad.mit.edu	37	3	10107621	10107621	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:10107621C>T	ENST00000419585.1	+	25	2504	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	FANCD2_ENST00000383806.1_Silent_p.F781F|FANCD2_ENST00000383807.1_Silent_p.F781F|FANCD2_ENST00000287647.3_Silent_p.F781F			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	781					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGCGTTCATTCATGTGTTCTC	0.393			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3		NA	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2341-2343)ttC>ttT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							151.0	124.0	133.0					3																	10107621		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10107621C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2343C>T	3.37:g.10107621C>T		True	False		Somatic	0				FANCD2_ENST00000383806.1_Silent_p.F781F|FANCD2_ENST00000419585.1_Silent_p.F781F|FANCD2_ENST00000383807.1_Silent_p.F781F	p.F781F	NM_033084.3	NP_149075.2	WXS	Illumina HiSeq	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	25	2436	+			781					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.2343C>T	CCDS33696.1																																																																																				0.393	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1	0			3:10107621
BTBD11	121551	broad.mit.edu	37	12	108013765	108013765	+	Missense_Mutation	SNP	G	G	A	rs201620480		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:108013765G>A	ENST00000280758.5	+	11	2983	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	819						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTCCAGGCGTCCCGTGGAC	0.587																																						ENST00000280758.5		NA																	0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2455-2457)Gtc>Atc		BTB (POZ) domain containing 11		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	25.0	24.0	24.0		1066,2455	5.2	1.0	12		24	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	BTBD11	NM_001017523.1,NM_001018072.1	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	356/642,819/1105	108013765	2,13004	2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108013765G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2455G>A	12.37:g.108013765G>A	ENSP00000280758:p.Val819Ile	False	False		Somatic	0				BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I	p.V819I	NM_001018072.1	NP_001018082.1	WXS	Illumina HiSeq	Phase_I	A6QL63	BTBDB_HUMAN			11	2983	+			819					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.2455G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868192	0.91587	2.27E-4	1.16E-4	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.55052	0.65;0.65;0.67;0.54	5.15	5.15	0.70609	.	0.117935	0.56097	D	0.000021	T	0.72495	0.3467	M	0.70275	2.135	0.80722	D	1	D;P;D;D	0.71674	0.998;0.508;0.987;0.99	D;B;B;P	0.73708	0.981;0.073;0.403;0.496	T	0.75560	-0.3275	10	0.66056	D	0.02	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	700;356;819;819	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	I	819;700;819;356	ENSP00000280758:V819I;ENSP00000413889:V700I;ENSP00000447319:V819I;ENSP00000349690:V356I	ENSP00000280758:V819I	V	+	1	0	BTBD11	106537895	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.975000	0.88055	2.398000	0.81561	0.650000	0.86243	GTC		0.587	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	0	NM_152322		12:108013765
HK3	3101	broad.mit.edu	37	5	176318141	176318141	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:176318141C>T	ENST00000292432.5	-	4	402	c.311G>A	c.(310-312)cGt>cAt	p.R104H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	104	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAAAACACGCAGTGAGGC	0.602																																						ENST00000292432.5		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(310-312)cGt>cAt		hexokinase 3 (white cell)							57.0	58.0	58.0					5																	176318141		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176318141C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.311G>A	5.37:g.176318141C>T	ENSP00000292432:p.Arg104His	False	False		Somatic	0					p.R104H	NM_002115.2	NP_002106.2	WXS	Illumina HiSeq	Phase_I	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	402	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	104			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.311G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504410	0.85176	.	.	ENSG00000160883	ENST00000292432	D	0.99724	-6.54	4.96	4.96	0.65561	Hexokinase, N-terminal (1);	0.000000	0.51477	D	0.000081	D	0.99664	0.9875	M	0.87900	2.915	0.32374	N	0.55541	D	0.71674	0.998	D	0.62955	0.909	D	0.97938	1.0324	10	0.62326	D	0.03	-7.6649	17.1545	0.86787	0.0:1.0:0.0:0.0	.	104	P52790	HXK3_HUMAN	H	104	ENSP00000292432:R104H	ENSP00000292432:R104H	R	-	2	0	HK3	176250747	0.996000	0.38824	0.984000	0.44739	0.870000	0.49936	4.152000	0.58111	2.460000	0.83146	0.561000	0.74099	CGT		0.602	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1	0			5:176318141
HECTD1	25831	broad.mit.edu	37	14	31576215	31576215	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:31576215T>A	ENST00000399332.1	-	38	7351	c.6863A>T	c.(6862-6864)tAt>tTt	p.Y2288F	HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2288	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCGTGACTCATAAATCAGTTT	0.368																																						ENST00000399332.1		NA																	0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6862-6864)tAt>tTt		HECT domain containing E3 ubiquitin protein ligase 1							82.0	77.0	79.0					14																	31576215		1851	4100	5951	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31576215T>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6863A>T	14.37:g.31576215T>A	ENSP00000382269:p.Tyr2288Phe	True	False		Somatic	0				HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	p.Y2288F	NM_015382.2	NP_056197.2	WXS	Illumina HiSeq	Phase_I	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	38	7351	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2288			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6863A>T	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.57|11.57	1.677590|1.677590	0.29783|0.29783	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.39406	.|1.08;1.08	5.96|5.96	5.96|5.96	0.96718|0.96718	.|HECT (4);	.|0.085238	.|0.49305	.|U	.|0.000145	T|T	0.38161|0.38161	0.1030|0.1030	N|N	0.03608|0.03608	-0.345|-0.345	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.57257	.|0.979	.|D	.|0.71414	.|0.973	T|T	0.39563|0.39563	-0.9608|-0.9608	5|10	.|0.11794	.|T	.|0.64	-10.4726|-10.4726	15.0049|15.0049	0.71504|0.71504	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2288	.|Q9ULT8	.|HECD1_HUMAN	L|F	654|2288;2290;2288	.|ENSP00000450697:Y2288F;ENSP00000382269:Y2288F	.|ENSP00000261312:Y2290F	M|Y	-|-	1|2	0|0	HECTD1|HECTD1	30645966|30645966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.694000|7.694000	0.84235|0.84235	2.270000|2.270000	0.75569|0.75569	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.368	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1	0			14:31576215
FAM178A	55719	broad.mit.edu	37	10	102672997	102672997	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:102672997C>T	ENST00000238961.4	+	1	672	c.130C>T	c.(130-132)Cct>Tct	p.P44S	FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S|FAM178A_ENST00000609386.1_Missense_Mutation_p.P44S|RP11-179B2.2_ENST00000608554.1_RNA|FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	44						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AACAGAGAGTCCTGGGGACAG	0.682																																						ENST00000238961.3		NA																	0					NA						c.(130-132)Cct>Tct		family with sequence similarity 178, member A							22.0	24.0	23.0					10																	102672997		2199	4300	6499	SO:0001583	missense	0							g.chr10:102672997C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.130C>T	10.37:g.102672997C>T	ENSP00000238961:p.Pro44Ser	False	False		Somatic	0				FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S|FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S	p.P44S	NM_018121.3	NP_060591.3	WXS	Illumina HiSeq	Phase_I	Q8IX21	F178A_HUMAN			1	278	+			44					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.130C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545875	0.86022	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.61392	0.11;0.85;0.81	5.25	5.25	0.73442	.	0.000000	0.53938	D	0.000044	T	0.63745	0.2537	N	0.24115	0.695	0.35168	D	0.771306	D;D;D	0.89917	0.995;0.995;1.0	D;D;D	0.87578	0.919;0.919;0.998	T	0.72204	-0.4361	10	0.72032	D	0.01	-15.2639	14.5237	0.67873	0.0:1.0:0.0:0.0	.	44;44;44	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	S	44	ENSP00000359294:P44S;ENSP00000238961:P44S;ENSP00000359292:P44S	ENSP00000238961:P44S	P	+	1	0	FAM178A	102662987	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.254000	0.51477	2.890000	0.99128	0.585000	0.79938	CCT		0.682	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3	0			10:102672997
