#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
LOC100288069	100288069	broad.mit.edu	37	1	700594	700596	+	lincRNA	DEL	ATC	ATC	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	ATC	ATC	-	-	ATC	ATC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:700594_700596delATC	ENST00000428504.1	-	0	957_959				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						AGGGTATGGGATCATCACCGGAC	0.325																																						ENST00000428504.1		NA																	0					NA																																														0							g.chr1:700594_700596delATC																													1.37:g.700597_700599delATC		False	False		Somatic	2						NR_033908.1		WXS	Illumina HiSeq	Phase_I					0	957_959	-			NA						RNA	DEL	ENST00000428504.1	37																																																																																						0.325	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1	0			1:700594
EXTL2	2135	broad.mit.edu	37	1	101339575	101339576	+	Frame_Shift_Ins	INS	-	-	ATGTATTTTTTTAAGCAAC			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:101339575_101339576insATGTATTTTTTTAAGCAAC	ENST00000370114.3	-	5	2351_2352	c.915_916insGTTGCTTAAAAAAATACAT	c.(913-918)gatagcfs	p.S306fs	EXTL2_ENST00000370113.3_Frame_Shift_Ins_p.S306fs|EXTL2_ENST00000535414.1_Frame_Shift_Ins_p.S293fs	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	306					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		AAGGGCATGCTATCATAGATAT	0.351																																						ENST00000370114.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(913-918)gatagcfs		exostosin-like glycosyltransferase 2																																				SO:0001589	frameshift_variant	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339575_101339576insATGTATTTTTTTAAGCAAC	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.915_916insGTTGCTTAAAAAAATACAT	1.37:g.101339575_101339576insATGTATTTTTTTAAGCAAC	ENSP00000359132:p.Ser306fs	False	False		Somatic	0				EXTL2_ENST00000535414.1_Frame_Shift_Ins_p.S293fs|EXTL2_ENST00000370113.3_Frame_Shift_Ins_p.S306fs	p.S306fs	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	WXS	Illumina HiSeq	Phase_I	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2351_2352	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	306					B2R795|D3DT60	Frame_Shift_Ins	INS	ENST00000370114.3	37	c.915_916insGTTGCTTAAAAAAATACAT	CCDS775.1																																																																																				0.351	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	0	NM_001439		1:101339575
OR5P3	120066	broad.mit.edu	37	11	7846922	7846923	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:7846922_7846923insT	ENST00000328375.1	-	1	596_597	c.597_598insA	c.(595-600)ccagctfs	p.A200fs	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGAGATAGCTGGAATTATTT	0.411																																						ENST00000328375.1		NA																	0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(595-600)ccagctfs		olfactory receptor, family 5, subfamily P, member 3																																				SO:0001589	frameshift_variant	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7846922_7846923insT	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.598dupA	11.37:g.7846923_7846923dupT	ENSP00000332068:p.Ala200fs	False	False		Somatic	1				RP11-35J10.5_ENST00000527565.1_lincRNA	p.A200fs	NM_153445.1	NP_703146.1	WXS	Illumina HiSeq	Phase_I	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	596_597	-			200					Q6IFE1|Q8NGM2	Frame_Shift_Ins	INS	ENST00000328375.1	37	c.597_598insA	CCDS7783.1																																																																																				0.411	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	0	NM_153445		11:7846922
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
CCDC62	84660	broad.mit.edu	37	12	123273474	123273475	+	In_Frame_Ins	INS	-	-	TTTGAAAATGGTTATCCT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:123273474_123273475insTTTGAAAATGGTTATCCT	ENST00000253079.6	+	5	1012_1013	c.668_669insTTTGAAAATGGTTATCCT	c.(667-672)aaagag>aaTTTGAAAATGGTTATCCTagag	p.223_223K>NLKMVIL	CCDC62_ENST00000392441.4_In_Frame_Ins_p.223_223K>NLKMVIL|CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	223					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AACAAACTAAAAGGTAAGGAAG	0.351																																						ENST00000253079.6		NA																	0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(667-672)aaagag>aaTTTGAAAATGGTTATCCTagag		coiled-coil domain containing 62																																				SO:0001652	inframe_insertion	84660					cytoplasm|nucleus		g.chr12:123273474_123273475insTTTGAAAATGGTTATCCT		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	Exception_encountered	12.37:g.123273474_123273475insTTTGAAAATGGTTATCCT	ENSP00000253079:p.Lys223delinsAsnLeuLysMetValIleLeu	True	False		Somatic	0				CCDC62_ENST00000392441.4_In_Frame_Ins_p.223_223K>NLKMVIL|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392440.2_Intron	p.223_223K>NLKMVIL	NM_201435.4	NP_958843.2	WXS	Illumina HiSeq	Phase_I	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	5	1012_1013	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		223					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	In_Frame_Ins	INS	ENST00000253079.6	37	c.668_669insTTTGAAAATGGTTATCCT	CCDS9238.1																																																																																				0.351	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	0	NM_032573		12:123273474
AP1G1	164	broad.mit.edu	37	16	71773244	71773245	+	Splice_Site	INS	-	-	TGAGTAATGAGATGTGGTTATTAAGAAAAAGAAGTAATAATT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:71773244_71773245insTGAGTAATGAGATGTGGTTATTAAGAAAAAGAAGTAATAATT	ENST00000299980.4	-	20	2441	c.2000_2000insAATTATTACTTCTTTTTCTTAATAACCACATCTCATTACTCA	c.(1999-2001)ggt>gAATTATTACTTCTTTTTCTTAATAACCACATCTCATTACTCAgt	p.667_667G>ELLLLFLNNHISLLS	AP1G1_ENST00000393512.3_Splice_Site_p.670_670G>ELLLLFLNNHISLLS|AP1G1_ENST00000433195.2_Splice_Site_p.690_690G>ELLLLFLNNHISLLS|AP1G1_ENST00000423132.2_Splice_Site_p.670_670G>ELLLLFLNNHISLLS|AP1G1_ENST00000569748.1_Splice_Site_p.667_667G>ELLLLFLNNHISLLS|AP1G1_ENST00000564155.1_Splice_Site_p.92_92G>ELLLLFLNNHISLLS	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	667					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCTGGAGCACCTAAAGGAAAT	0.441																																						ENST00000299980.4		NA																	0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(1999-2001)ggt>gAATTATTACTTCTTTTTCTTAATAACCACATCTCATTACTCAgt		adaptor-related protein complex 1, gamma 1 subunit																																				SO:0001630	splice_region_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71773244_71773245insTGAGTAATGAGATGTGGTTATTAAGAAAAAGAAGTAATAATT	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2000-1->AATTATTACTTCTTTTTCTTAATAACCACATCTCATTACTCA	16.37:g.71773244_71773245insTGAGTAATGAGATGTGGTTATTAAGAAAAAGAAGTAATAATT		False	False		Somatic	0				AP1G1_ENST00000564155.1_Splice_Site_p.92_92G>ELLLLFLNNHISLLS|AP1G1_ENST00000423132.2_Splice_Site_p.670_670G>ELLLLFLNNHISLLS|AP1G1_ENST00000433195.2_Splice_Site_p.690_690G>ELLLLFLNNHISLLS|AP1G1_ENST00000393512.3_Splice_Site_p.670_670G>ELLLLFLNNHISLLS|AP1G1_ENST00000569748.1_Splice_Site_p.667_667G>ELLLLFLNNHISLLS	p.667_667G>ELLLLFLNNHISLLS	NM_001128.5	NP_001119.3	WXS	Illumina HiSeq	Phase_I	O43747	AP1G1_HUMAN			20	2441	-		Ovarian(137;0.125)	667					O75709|O75842|Q9UG09|Q9Y3U4	Splice_Site	INS	ENST00000299980.4	37	c.2000_2000insAATTATTACTTCTTTTTCTTAATAACCACATCTCATTACTCA	CCDS32480.1																																																																																				0.441	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1	0		In_Frame_Ins	16:71773244
AP1G1	164	broad.mit.edu	37	16	71773246	71773247	+	Splice_Site	INS	-	-	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:71773246_71773247insG	ENST00000299980.4	-	20	2441		c.e20-2		AP1G1_ENST00000393512.3_Splice_Site|AP1G1_ENST00000433195.2_Splice_Site|AP1G1_ENST00000423132.2_Splice_Site|AP1G1_ENST00000569748.1_Splice_Site|AP1G1_ENST00000564155.1_Splice_Site	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTGGAGCACCTAAAGGAAATAT	0.446																																						ENST00000299980.4		NA																	0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.e20-2		adaptor-related protein complex 1, gamma 1 subunit																																				SO:0001630	splice_region_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71773246_71773247insG	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2000-2->C	16.37:g.71773246_71773247insG		True	False		Somatic	0				AP1G1_ENST00000564155.1_Splice_Site|AP1G1_ENST00000423132.2_Splice_Site|AP1G1_ENST00000433195.2_Splice_Site|AP1G1_ENST00000393512.3_Splice_Site|AP1G1_ENST00000569748.1_Splice_Site		NM_001128.5	NP_001119.3	WXS	Illumina HiSeq	Phase_I	O43747	AP1G1_HUMAN			20	2441	-		Ovarian(137;0.125)	NA					O75709|O75842|Q9UG09|Q9Y3U4	Splice_Site	INS	ENST00000299980.4	37		CCDS32480.1																																																																																				0.446	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1	0		Intron	16:71773246
TRAPPC8	22878	broad.mit.edu	37	18	29419411	29419412	+	Frame_Shift_Ins	INS	-	-	ATCAAAAAAGGTTTGAGCTTTATTTT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr18:29419411_29419412insATCAAAAAAGGTTTGAGCTTTATTTT	ENST00000283351.4	-	27	4181_4182	c.3846_3847insAAAATAAAGCTCAAACCTTTTTTGAT	c.(3844-3849)ccagaafs	p.E1283fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.E1229fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1283					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTTCCATTTCTGGTGGCTCCT	0.317																																						ENST00000283351.4		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3844-3849)ccagaafs		trafficking protein particle complex 8																																				SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29419411_29419412insATCAAAAAAGGTTTGAGCTTTATTTT	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3846_3847insAAAATAAAGCTCAAACCTTTTTTGAT	18.37:g.29419411_29419412insATCAAAAAAGGTTTGAGCTTTATTTT	ENSP00000283351:p.Glu1283fs	False	False		Somatic	0				TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.E1229fs	p.E1283fs	NM_014939.3	NP_055754.2	WXS	Illumina HiSeq	Phase_I	Q9Y2L5	TPPC8_HUMAN			27	4181_4182	-			1283					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Ins	INS	ENST00000283351.4	37	c.3846_3847insAAAATAAAGCTCAAACCTTTTTTGAT	CCDS11901.1																																																																																				0.317	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	0	NM_014939		18:29419411
CHMP2A	27243	broad.mit.edu	37	19	59063528	59063530	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:59063528_59063530delTCT	ENST00000600118.1	-	3	796_798	c.371_373delAGA	c.(370-375)aagatc>atc	p.K124del	CHMP2A_ENST00000312547.2_In_Frame_Del_p.K124del|CHMP2A_ENST00000601220.1_In_Frame_Del_p.K124del			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	124	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCCATCATGATCTTCTGGATCTG	0.517																																						ENST00000600118.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(370-375)aagatc>atc		charged multivesicular body protein 2A																																				SO:0001651	inframe_deletion	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063528_59063530delTCT	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.371_373delAGA	19.37:g.59063531_59063533delTCT	ENSP00000469240:p.Lys124del	False	False		Somatic	2				CHMP2A_ENST00000312547.2_In_Frame_Del_p.K124del|CHMP2A_ENST00000601220.1_In_Frame_Del_p.K124del	p.K124del			WXS	Illumina HiSeq	Phase_I	O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	796_798	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	124			Interaction with VPS4B.		B2R4W6|Q3ZTT0	In_Frame_Del	DEL	ENST00000600118.1	37	c.371_373delAGA	CCDS12986.1																																																																																				0.517	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	0	NM_014453		19:59063528
STAU1	6780	broad.mit.edu	37	20	47734946	47734947	+	Splice_Site	INS	-	-	ATTGCG			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:47734946_47734947insATTGCG	ENST00000371856.2	-	10	1524		c.e10-1		STAU1_ENST00000347458.5_Splice_Site|STAU1_ENST00000371802.1_Splice_Site|STAU1_ENST00000360426.4_Splice_Site|STAU1_ENST00000340954.7_Splice_Site|STAU1_ENST00000371828.3_Splice_Site|STAU1_ENST00000371792.1_Splice_Site	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1						intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTATGGGTGTCTTAAAAAAGAA	0.371																																						ENST00000371856.2		NA																	0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e10-1		staufen double-stranded RNA binding protein 1																																				SO:0001630	splice_region_variant	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734946_47734947insATTGCG		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1114-1->CGCAAT	20.37:g.47734946_47734947insATTGCG		False	False		Somatic	0				STAU1_ENST00000360426.4_Splice_Site|STAU1_ENST00000347458.5_Splice_Site|STAU1_ENST00000371828.3_Splice_Site|STAU1_ENST00000371802.1_Splice_Site|STAU1_ENST00000340954.7_Splice_Site|STAU1_ENST00000371792.1_Splice_Site		NM_017453.2	NP_059347.2	WXS	Illumina HiSeq	Phase_I	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		10	1524	-			NA					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Splice_Site	INS	ENST00000371856.2	37		CCDS13414.1																																																																																				0.371	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	0	NM_017453	Intron	20:47734946
SYCP2	10388	broad.mit.edu	37	20	58449064	58449065	+	Frame_Shift_Ins	INS	-	-	TCTCTTTATCAGATATATCTGAAGGTAGTAA			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:58449064_58449065insTCTCTTTATCAGATATATCTGAAGGTAGTAA	ENST00000357552.3	-	35	3626_3627	c.3401_3402insTTACTACCTTCAGATATATCTGATAAAGAGA	c.(3400-3402)acafs	p.-1134fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.-1134fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATAGATTTTGTTATGCAGTC	0.302																																						ENST00000357552.3		NA																	0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3400-3402)acafs		synaptonemal complex protein 2																																				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58449064_58449065insTCTCTTTATCAGATATATCTGAAGGTAGTAA	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3401_3402insTTACTACCTTCAGATATATCTGATAAAGAGA	20.37:g.58449064_58449065insTCTCTTTATCAGATATATCTGAAGGTAGTAA	ENSP00000350162:p.Thr1134fs	True	False		Somatic	0				SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.-1134fs	p.-1134fs			WXS	Illumina HiSeq	Phase_I	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		35	3626_3627	-	all_lung(29;0.00344)		NA					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3401_3402insTTACTACCTTCAGATATATCTGATAAAGAGA	CCDS13482.1																																																																																				0.302	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	0	NM_014258		20:58449064
HUWE1	10075	broad.mit.edu	37	X	53563494	53563495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chrX:53563494_53563495insG	ENST00000342160.3	-	78	12728_12729	c.12271_12272insC	c.(12271-12273)tacfs	p.Y4091fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.Y4091fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4091	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTGATGGTGTAGGTGACTCGA	0.505																																						ENST00000342160.3		NA																	0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12271-12273)tacfs		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563494_53563495insG	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12271_12272insC	X.37:g.53563494_53563495insG	ENSP00000340648:p.Tyr4091fs	False	False		Somatic	0				HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.Y4091fs	p.Y4091fs			WXS	Illumina HiSeq	Phase_I	Q7Z6Z7	HUWE1_HUMAN			78	12728_12729	-			4091			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Ins	INS	ENST00000342160.3	37	c.12271_12272insC	CCDS35301.1																																																																																				0.505	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	0	XM_497119		X:53563494
ARHGAP15	55843	broad.mit.edu	37	2	144193264	144193265	+	Frame_Shift_Ins	INS	-	-	GTAAAGAAACT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:144193264_144193265insGTAAAGAAACT	ENST00000295095.6	+	7	736_737	c.569_570insGTAAAGAAACT	c.(568-573)agattgfs	p.L191fs	AC096558.1_ENST00000550516.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	191					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GCAATTGACAGATTGGTATGTA	0.322																																						ENST00000295095.6		NA																	0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(568-573)agattgfs		Rho GTPase activating protein 15																																				SO:0001589	frameshift_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144193264_144193265insGTAAAGAAACT	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	Exception_encountered	2.37:g.144193264_144193265insGTAAAGAAACT	ENSP00000295095:p.Leu191fs	False	False		Somatic	0				AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	p.L191fs	NM_018460.3	NP_060930.3	WXS	Illumina HiSeq	Phase_I	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	7	736_737	+			191					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Frame_Shift_Ins	INS	ENST00000295095.6	37	c.569_570insGTAAAGAAACT	CCDS2184.1																																																																																				0.322	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	0	NM_018460		2:144193264
ARHGAP15	55843	broad.mit.edu	37	2	144193267	144193268	+	Splice_Site	DEL	TG	TG	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:144193267_144193268delTG	ENST00000295095.6	+	7	739_740	c.572_573delTG	c.(571-573)ttg>t	p.L191fs	AC096558.1_ENST00000550516.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	191					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATTGACAGATTGGTATGTATTT	0.327																																						ENST00000295095.6		NA																	0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(571-573)ttg>t		Rho GTPase activating protein 15																																				SO:0001630	splice_region_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144193267_144193268delTG	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.573+1TG>-	2.37:g.144193267_144193268delTG		True	False		Somatic	1				AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	p.L191fs	NM_018460.3	NP_060930.3	WXS	Illumina HiSeq	Phase_I	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	7	739_740	+			191					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Splice_Site	DEL	ENST00000295095.6	37	c.572_573delTG	CCDS2184.1																																																																																				0.327	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	0	NM_018460	Frame_Shift_Del	2:144193267
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483																																						ENST00000409547.1		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2938-2940)caadel		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708804_233708806delCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2938_2940delCAA	2.37:g.233708804_233708806delCAA	ENSP00000386537:p.Gln984del	True	False		Somatic	1				GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del	p.Q984del	NM_015575.3	NP_056390.2	WXS	Illumina HiSeq	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	26	3249_3251	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	984			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2938_2940delCAA	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	0	NM_001103146		2:233708804
NR3C2	4306	broad.mit.edu	37	4	149181227	149181228	+	Frame_Shift_Ins	INS	-	-	TCCTA			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:149181227_149181228insTCCTA	ENST00000358102.3	-	3	2161_2162	c.1799_1800insTAGGA	c.(1798-1800)tcafs	p.-600fs	NR3C2_ENST00000512865.1_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000355292.3_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000511528.1_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000344721.4_Frame_Shift_Ins_p.-600fs	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2						gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AACATATTTTTGAAGGTCTTGA	0.421																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000358102.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1798-1800)tcafs		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)																																			SO:0001589	frameshift_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149181227_149181228insTCCTA	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1799_1800insTAGGA	4.37:g.149181227_149181228insTCCTA	ENSP00000350815:p.Ser600fs	True	False		Somatic	0				NR3C2_ENST00000344721.4_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000512865.1_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000355292.3_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000511528.1_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000342437.4_Frame_Shift_Ins_p.-600fs	p.-600fs	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	WXS	Illumina HiSeq	Phase_I	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	3	2161_2162	-	all_hematologic(180;0.151)		NA					B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Frame_Shift_Ins	INS	ENST00000358102.3	37	c.1799_1800insTAGGA	CCDS3772.1																																																																																				0.421	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1	0			4:149181227
NR3C2	4306	broad.mit.edu	37	4	149181228	149181229	+	Frame_Shift_Ins	INS	-	-	TGTGTAGTTTACTTGTACAGCT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:149181228_149181229insTGTGTAGTTTACTTGTACAGCT	ENST00000358102.3	-	3	2160_2161	c.1798_1799insAGCTGTACAAGTAAACTACACA	c.(1798-1800)tcafs	p.S600fs	NR3C2_ENST00000512865.1_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000355292.3_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000511528.1_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000344721.4_Frame_Shift_Ins_p.S600fs	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	600	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ACATATTTTTGAAGGTCTTGAA	0.421																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000358102.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1798-1800)tcafs		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)																																			SO:0001589	frameshift_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149181228_149181229insTGTGTAGTTTACTTGTACAGCT	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1798_1799insAGCTGTACAAGTAAACTACACA	4.37:g.149181228_149181229insTGTGTAGTTTACTTGTACAGCT	ENSP00000350815:p.Ser600fs	False	False		Somatic	0				NR3C2_ENST00000344721.4_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000512865.1_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000355292.3_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000511528.1_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000342437.4_Frame_Shift_Ins_p.S600fs	p.S600fs	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	WXS	Illumina HiSeq	Phase_I	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	3	2160_2161	-	all_hematologic(180;0.151)		600			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Frame_Shift_Ins	INS	ENST00000358102.3	37	c.1798_1799insAGCTGTACAAGTAAACTACACA	CCDS3772.1																																																																																				0.421	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1	0			4:149181228
GUCY1B3	2983	broad.mit.edu	37	4	156723556	156723557	+	Frame_Shift_Ins	INS	-	-	AAAGGTGATGCTGGCAGCCCTGAGACTATTATGA			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:156723556_156723557insAAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	ENST00000264424.8	+	10	1320_1321	c.1238_1239insAAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	c.(1237-1242)cctgccfs	p.A414fs	GUCY1B3_ENST00000503520.1_Intron|GUCY1B3_ENST00000505764.1_Frame_Shift_Ins_p.A394fs|GUCY1B3_ENST00000507146.1_Frame_Shift_Ins_p.A389fs|GUCY1B3_ENST00000513437.1_Frame_Shift_Ins_p.A346fs|GUCY1B3_ENST00000505154.1_Frame_Shift_Ins_p.A346fs|GUCY1B3_ENST00000502959.1_Frame_Shift_Ins_p.A436fs	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	414					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CGTCCAGTGCCTGCCAAAAGAT	0.485																																						ENST00000507146.1		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1162-1167)cctgccfs		guanylate cyclase 1, soluble, beta 3																																				SO:0001589	frameshift_variant	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156723556_156723557insAAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	Exception_encountered	4.37:g.156723556_156723557insAAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	ENSP00000264424:p.Ala414fs	True	False		Somatic	0				GUCY1B3_ENST00000503520.1_Intron|GUCY1B3_ENST00000513437.1_Frame_Shift_Ins_p.A346fs|GUCY1B3_ENST00000505154.1_Frame_Shift_Ins_p.A346fs|GUCY1B3_ENST00000264424.8_Frame_Shift_Ins_p.A414fs|GUCY1B3_ENST00000505764.1_Frame_Shift_Ins_p.A394fs|GUCY1B3_ENST00000502959.1_Frame_Shift_Ins_p.A436fs	p.A389fs			WXS	Illumina HiSeq	Phase_I	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	11	1663_1664	+	all_hematologic(180;0.24)	Renal(120;0.0854)	414					B7Z426|Q86WY5	Frame_Shift_Ins	INS	ENST00000264424.8	37	c.1163_1164insAAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	CCDS47154.1																																																																																				0.485	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2	0			4:156723556
SH3RF1	57630	broad.mit.edu	37	4	170190304	170190305	+	In_Frame_Ins	INS	-	-	AGATAAATATTACACAGTAGTGCCAAAGGT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:170190304_170190305insAGATAAATATTACACAGTAGTGCCAAAGGT	ENST00000284637.9	-	2	400_401	c.59_60insACCTTTGGCACTACTGTGTAATATTTATCT	c.(58-60)gat>gaACCTTTGGCACTACTGTGTAATATTTATCTt	p.20_20D>EPLALLCNIYL	SH3RF1_ENST00000508685.1_5'Flank	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	20					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCGCAGAAGCATCAAGGCGCTC	0.455																																						ENST00000284637.9		NA																	0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(58-60)gat>gaACCTTTGGCACTACTGTGTAATATTTATCTt		SH3 domain containing ring finger 1																																				SO:0001652	inframe_insertion	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170190304_170190305insAGATAAATATTACACAGTAGTGCCAAAGGT	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.59_60insACCTTTGGCACTACTGTGTAATATTTATCT	4.37:g.170190304_170190305insAGATAAATATTACACAGTAGTGCCAAAGGT	ENSP00000284637:p.Asp20delinsGluProLeuAlaLeuLeuCysAsnIleTyrLeu	False	False		Somatic	0					p.20_20D>EPLALLCNIYL	NM_020870.3	NP_065921.2	WXS	Illumina HiSeq	Phase_I	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	2	400_401	-		Prostate(90;0.00267)|Renal(120;0.0183)	20					Q05BT2|Q8IW46|Q9HAM2|Q9P234	In_Frame_Ins	INS	ENST00000284637.9	37	c.59_60insACCTTTGGCACTACTGTGTAATATTTATCT	CCDS34099.1																																																																																				0.455	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	0	NM_020870		4:170190304
DNAJC21	134218	broad.mit.edu	37	5	34950433	34950434	+	Frame_Shift_Ins	INS	-	-	TAAATATAATACT			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:34950433_34950434insTAAATATAATACT	ENST00000342382.4	+	10	1571_1572	c.1344_1345insTAAATATAATACT	c.(1345-1347)agtfs	p.S449fs	DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000303525.7_Frame_Shift_Ins_p.S462fs|DNAJC21_ENST00000382021.2_Frame_Shift_Ins_p.S494fs			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	449					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ATGATCCAAAAAGTGAAGCTAA	0.312																																						ENST00000382021.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1480-1482)agtfs		DnaJ (Hsp40) homolog, subfamily C, member 21																																				SO:0001589	frameshift_variant	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34950433_34950434insTAAATATAATACT		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	Exception_encountered	5.37:g.34950433_34950434insTAAATATAATACT	ENSP00000343728:p.Ser449fs	True	False		Somatic	0				DNAJC21_ENST00000342382.4_Frame_Shift_Ins_p.S449fs|DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000303525.7_Frame_Shift_Ins_p.S462fs	p.S494fs	NM_194283.3	NP_919259.3	WXS	Illumina HiSeq	Phase_I	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		11	1706_1707	+	all_lung(31;7.08e-05)		449					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Frame_Shift_Ins	INS	ENST00000342382.4	37	c.1479_1480insTAAATATAATACT	CCDS34144.1																																																																																				0.312	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	0	NM_194283		5:34950433
UBR5	51366	broad.mit.edu	37	8	103335695	103335696	+	Frame_Shift_Ins	INS	-	-	ATGAATG			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:103335695_103335696insATGAATG	ENST00000520539.1	-	14	2233_2234	c.1627_1628insCATTCAT	c.(1627-1629)catfs	p.H543fs	UBR5_ENST00000521922.1_Frame_Shift_Ins_p.H537fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.H543fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	543					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTCCAGCATGATAAAGAGGA	0.322																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000521922.1		NA																	0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1609-1611)catfs		ubiquitin protein ligase E3 component n-recognin 5																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103335695_103335696insATGAATG	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1627_1628insCATTCAT	8.37:g.103335695_103335696insATGAATG	ENSP00000429084:p.His543fs	False	False		Somatic	0				UBR5_ENST00000520539.1_Frame_Shift_Ins_p.H543fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.H543fs	p.H537fs			WXS	Illumina HiSeq	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		14	2133_2134	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		543					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	c.1609_1610insCATTCAT	CCDS34933.1																																																																																				0.322	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	0	NM_015902		8:103335695
OC90	729330	broad.mit.edu	37	8	133048648	133048648	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:133048648delC	ENST00000443356.2	-	10	783	c.697delG	c.(697-699)gctfs	p.A233fs	OC90_ENST00000262283.5_Frame_Shift_Del_p.A429fs|OC90_ENST00000254627.3_Intron|OC90_ENST00000603859.1_Intron			Q02509	OC90_HUMAN	otoconin 90	233					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGTCTGTCAGCCTCAGTCTCT	0.443																																						ENST00000262283.5		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(1285-1287)gctfs		otoconin 90							111.0	106.0	108.0					8																	133048648		1900	4133	6033	SO:0001589	frameshift_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133048648delC	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.697delG	8.37:g.133048648delC	ENSP00000390050:p.Ala233fs	False	False		Somatic	2				OC90_ENST00000443356.2_Frame_Shift_Del_p.A233fs|OC90_ENST00000254627.3_Intron|OC90_ENST00000603859.1_Intron	p.A429fs			WXS	Illumina HiSeq	Phase_I	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		13	1384	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		233			Phospholipase A2-like 3.		B4DNG8	Frame_Shift_Del	DEL	ENST00000443356.2	37	c.1285delG																																																																																					0.443	OC90-201	KNOWN	basic	protein_coding	protein_coding		0	NM_001080399		8:133048648
LRRC19	64922	broad.mit.edu	37	9	26995759	26995760	+	Frame_Shift_Ins	INS	-	-	TGGTAGATGATGATGGATTTATTGAAGACAA			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:26995759_26995760insTGGTAGATGATGATGGATTTATTGAAGACAA	ENST00000380055.5	-	5	982_983	c.872_873insTTGTCTTCAATAAATCCATCATCATCTACCA	c.(871-873)atcfs	p.-291fs	IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|LRRC19_ENST00000482770.1_5'UTR	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		TTGGGCATTTGATAGCAATAAA	0.366																																						ENST00000380055.5		NA																	0				breast(1)|endometrium(2)|kidney(1)|lung(2)	6						c.(871-873)atcfs		leucine rich repeat containing 19																																				SO:0001589	frameshift_variant	64922					integral to membrane		g.chr9:26995759_26995760insTGGTAGATGATGATGGATTTATTGAAGACAA	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.872_873insTTGTCTTCAATAAATCCATCATCATCTACCA	9.37:g.26995759_26995760insTGGTAGATGATGATGGATTTATTGAAGACAA	ENSP00000369395:p.Ile291fs	False	False		Somatic	0				IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_5'UTR	p.-291fs	NM_022901.2	NP_075052.1	WXS	Illumina HiSeq	Phase_I	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	5	982_983	-		all_neural(11;1.81e-09)	NA					A0AV00|B9EG91	Frame_Shift_Ins	INS	ENST00000380055.5	37	c.872_873insTTGTCTTCAATAAATCCATCATCATCTACCA	CCDS6518.1																																																																																				0.366	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	0	NM_022901		9:26995759
RIMBP2	23504	broad.mit.edu	37	12	130921729	130921729	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:130921729G>A	ENST00000261655.4	-	10	1876	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G	RIMBP2_ENST00000535703.1_Silent_p.G479G|RIMBP2_ENST00000536002.1_Silent_p.G479G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	571	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCACGGACTCGCCCTGGGCGG	0.662																																						ENST00000261655.4		NA																	0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1711-1713)ggC>ggT		RIMS binding protein 2							23.0	20.0	21.0					12																	130921729		2190	4290	6480	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130921729G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1713C>T	12.37:g.130921729G>A		True	False		Somatic	0				RIMBP2_ENST00000536002.1_Silent_p.G479G|RIMBP2_ENST00000535703.1_Silent_p.G479G	p.G571G	NM_015347.4	NP_056162.4	WXS	Illumina HiSeq	Phase_I	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	1876	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	571			Fibronectin type-III 3.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1713C>T	CCDS31925.1																																																																																				0.662	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	0	NM_015347		12:130921729
LTBP2	4053	broad.mit.edu	37	14	74968210	74968210	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:74968210G>A	ENST00000261978.4	-	35	5640	c.5254C>T	c.(5254-5256)Cgg>Tgg	p.R1752W	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1708W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1752	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCCTCCCGCACGCGCACA	0.622											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261978.4		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(5254-5256)Cgg>Tgg		latent transforming growth factor beta binding protein 2							86.0	84.0	85.0					14																	74968210		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74968210G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5254C>T	14.37:g.74968210G>A	ENSP00000261978:p.Arg1752Trp	True	False		Somatic	0	OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1708W	p.R1752W	NM_000428.2	NP_000419.1	WXS	Illumina HiSeq	Phase_I	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	35	5640	-			1752			EGF-like 19; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.5254C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786592	0.70337	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.92699	-3.09;-3.09	5.25	2.23	0.28157	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.470600	0.16123	N	0.228535	D	0.92143	0.7509	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	D	0.84993	0.0895	10	0.66056	D	0.02	.	11.6308	0.51173	0.0:0.1212:0.6393:0.2395	.	1752	Q14767	LTBP2_HUMAN	W	1752;1708	ENSP00000261978:R1752W;ENSP00000451477:R1708W	ENSP00000261978:R1752W	R	-	1	2	LTBP2	74037963	0.860000	0.29831	0.786000	0.31890	0.986000	0.74619	1.961000	0.40432	0.740000	0.32651	-0.188000	0.12872	CGG		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	0	NM_000428		14:74968210
NUDT6	11162	broad.mit.edu	37	4	123843664	123843664	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:123843664G>T	ENST00000304430.5	-	1	97	c.64C>A	c.(64-66)Cct>Act	p.P22T	NUDT6_ENST00000339154.2_Intron|SPATA5_ENST00000274008.4_5'Flank	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	22						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CCCGCCGAAGGCCCGGGGCCG	0.682																																						ENST00000304430.5		NA																	0				endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(64-66)Cct>Act		nudix (nucleoside diphosphate linked moiety X)-type motif 6							14.0	18.0	17.0					4																	123843664		1883	4051	5934	SO:0001583	missense	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123843664G>T	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.64C>A	4.37:g.123843664G>T	ENSP00000306070:p.Pro22Thr	True	False		Somatic	0				NUDT6_ENST00000339154.2_Intron	p.P22T	NM_007083.4	NP_009014.2	WXS	Illumina HiSeq	Phase_I	P53370	NUDT6_HUMAN			1	97	-			22					A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	c.64C>A	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689167	0.29962	.	.	ENSG00000170917	ENST00000304430	T	0.21543	2.0	3.97	0.0578	0.14325	.	1.142310	0.06669	N	0.765837	T	0.09598	0.0236	N	0.08118	0	0.09310	N	0.999995	B	0.11235	0.004	B	0.09377	0.004	T	0.36212	-0.9757	10	0.23891	T	0.37	-1.8931	4.3631	0.11211	0.3094:0.1653:0.5254:0.0	.	22	P53370	NUDT6_HUMAN	T	22	ENSP00000306070:P22T	ENSP00000306070:P22T	P	-	1	0	NUDT6	124063114	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.055000	0.11807	-0.141000	0.11374	-0.467000	0.05162	CCT		0.682	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	0	NM_007083		4:123843664
TIE1	7075	broad.mit.edu	37	1	43778910	43778910	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:43778910G>A	ENST00000372476.3	+	13	2111	c.2032G>A	c.(2032-2034)Gtt>Att	p.V678I	TIE1_ENST00000433781.2_Missense_Mutation_p.V323I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	678	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCCAAGTACGTTGTGGAGGT	0.632																																						ENST00000372476.3		NA																	0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2032-2034)Gtt>Att		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							118.0	94.0	102.0					1																	43778910		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778910G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2032G>A	1.37:g.43778910G>A	ENSP00000361554:p.Val678Ile	False	False		Somatic	0				TIE1_ENST00000433781.2_Missense_Mutation_p.V323I	p.V678I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	WXS	Illumina HiSeq	Phase_I	P35590	TIE1_HUMAN			13	2111	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	678			Fibronectin type-III 3.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2032G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.258294	0.01445	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000433781	T;T	0.57107	0.42;0.42	5.08	1.24	0.21308	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.179360	0.26563	N	0.023668	T	0.18215	0.0437	N	0.00642	-1.3	0.19775	N	0.999952	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.27536	-1.0071	10	0.13853	T	0.58	.	11.398	0.49854	0.8638:0.0:0.1362:0.0	.	323;633;678;323;678	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	I	678;81;323	ENSP00000361554:V678I;ENSP00000411728:V323I	ENSP00000361553:V81I	V	+	1	0	TIE1	43551497	1.000000	0.71417	0.908000	0.35775	0.331000	0.28603	2.067000	0.41461	-0.002000	0.14469	-2.033000	0.00422	GTT		0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	0	NM_005424		1:43778910
KIFAP3	22920	broad.mit.edu	37	1	169985603	169985603	+	Splice_Site	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:169985603C>A	ENST00000361580.2	-	10	1410	c.1183G>T	c.(1183-1185)Ggc>Tgc	p.G395C	KIFAP3_ENST00000540905.1_Splice_Site_p.G97C|KIFAP3_ENST00000538366.1_Splice_Site_p.G317C|KIFAP3_ENST00000367765.1_Splice_Site_p.G355C|KIFAP3_ENST00000367767.1_Splice_Site_p.G351C	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	395					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAAGCATACCTAGGAGTGCA	0.413																																						ENST00000367765.1		NA																	0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1063-1065)Ggc>Tgc		kinesin-associated protein 3							109.0	100.0	103.0					1																	169985603		2203	4300	6503	SO:0001630	splice_region_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169985603C>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1183+1G>T	1.37:g.169985603C>A		False	False		Somatic	0				KIFAP3_ENST00000361580.2_Splice_Site_p.G395C|KIFAP3_ENST00000540905.1_Splice_Site_p.G97C|KIFAP3_ENST00000538366.1_Splice_Site_p.G317C|KIFAP3_ENST00000367767.1_Splice_Site_p.G351C	p.G355C	NM_001204517.1	NP_001191446.1	WXS	Illumina HiSeq	Phase_I	Q92845	KIFA3_HUMAN			10	2564	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		395					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Splice_Site	SNP	ENST00000361580.2	37	c.1063G>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200786	0.79015	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.146179	0.64402	D	0.000010	T	0.29061	0.0722	L	0.43152	1.355	0.80722	D	1	P	0.37061	0.58	B	0.38683	0.279	T	0.03493	-1.1031	9	.	.	.	-14.7883	19.7221	0.96147	0.0:1.0:0.0:0.0	.	395	Q92845	KIFA3_HUMAN	C	395;355;351;97;317	ENSP00000354560:G395C;ENSP00000356739:G355C;ENSP00000356741:G351C;ENSP00000442712:G97C;ENSP00000444622:G317C	.	G	-	1	0	KIFAP3	168252227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.357000	0.66058	2.758000	0.94735	0.563000	0.77884	GGC		0.413	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	0	NM_014970	Missense_Mutation	1:169985603
DNAH11	8701	broad.mit.edu	37	7	21611423	21611423	+	Splice_Site	SNP	G	G	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:21611423G>T	ENST00000409508.3	+	8	1456		c.e8-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTTACAAAGGATATATTTG	0.338									Kartagener syndrome																													ENST00000328843.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.e8-1		dynein, axonemal, heavy chain 11							71.0	65.0	67.0					7																	21611423		1795	4066	5861	SO:0001630	splice_region_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21611423G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1426-1G>T	7.37:g.21611423G>T		True	False		Somatic	0				DNAH11_ENST00000409508.3_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q96DT5	DYH11_HUMAN			8	1456	+			NA					Q9UJ82	Splice_Site	SNP	ENST00000409508.3	37			.	.	.	.	.	.	.	.	.	.	G	15.94	2.980317	0.53827	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.86	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9369	0.64029	0.074:0.0:0.926:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21577948	1.000000	0.71417	0.983000	0.44433	0.577000	0.36160	5.384000	0.66225	1.489000	0.48450	0.650000	0.86243	.		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	NM_003777	Intron	7:21611423
CCDC8	83987	broad.mit.edu	37	19	46915715	46915715	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:46915715C>T	ENST00000307522.3	-	1	1126	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	118					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CGGGCCCTGGCGGCTCTTGTC	0.637																																						ENST00000307522.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(352-354)cGc>cAc		coiled-coil domain containing 8							52.0	58.0	56.0					19																	46915715		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915715C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.353G>A	19.37:g.46915715C>T	ENSP00000303158:p.Arg118His	False	False		Somatic	0					p.R118H	NM_032040.4	NP_114429.2	WXS	Illumina HiSeq	Phase_I	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1126	-			118					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.353G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592819	0.28357	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.13420	2.59	3.78	-7.56	0.01322	.	2.515660	0.01447	N	0.015325	T	0.06188	0.0160	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.28713	-1.0035	10	0.13108	T	0.6	.	8.1402	0.31078	0.0:0.1367:0.4249:0.4384	.	118	Q9H0W5	CCDC8_HUMAN	H	118	ENSP00000303158:R118H	ENSP00000303158:R118H	R	-	2	0	CCDC8	51607555	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-3.843000	0.00352	-1.722000	0.01377	-0.345000	0.07892	CGC		0.637	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	0	NM_032040		19:46915715
KMT2D	8085	broad.mit.edu	37	12	49433687	49433687	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:49433687G>A	ENST00000301067.7	-	31	7865	c.7866C>T	c.(7864-7866)gaC>gaT	p.D2622D	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2622	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGAGGGATCCGTCGGGTGCAG	0.647																																						ENST00000301067.7		NA																	0					NA						c.(7864-7866)gaC>gaT		lysine (K)-specific methyltransferase 2D							42.0	46.0	44.0					12																	49433687		2027	4183	6210	SO:0001819	synonymous_variant	8085							g.chr12:49433687G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7866C>T	12.37:g.49433687G>A		False	False		Somatic	0					p.D2622D	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					31	7865	-			NA					O14687	Silent	SNP	ENST00000301067.7	37	c.7866C>T	CCDS44873.1																																																																																				0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49433687
RFX7	64864	broad.mit.edu	37	15	56535410	56535410	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:56535410T>C	ENST00000423270.1	-	1	73	c.74A>G	c.(73-75)aAc>aGc	p.N25S	RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.N25S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	0					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CACCCCCGAGTTGGGGGCGCT	0.652																																						ENST00000423270.1		NA																	0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(73-75)aAc>aGc		regulatory factor X, 7							10.0	12.0	11.0					15																	56535410		1909	4106	6015	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56535410T>C			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000423270.1:c.74A>G	15.37:g.56535410T>C	ENSP00000397644:p.Asn25Ser	False	False		Somatic	0				RFX7_ENST00000317318.6_Missense_Mutation_p.N25S|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR	p.N25S	NM_022841.5	NP_073752.5	WXS	Illumina HiSeq	Phase_I	Q2KHR2	RFX7_HUMAN			1	73	-			672					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000423270.1	37	c.74A>G		.	.	.	.	.	.	.	.	.	.	T	10.81	1.456433	0.26161	.	.	ENSG00000181827	ENST00000317318;ENST00000423270	T;T	0.50001	0.76;0.76	3.0	0.546	0.17196	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.25825	N	0.984237	.	.	.	.	.	.	T	0.23511	-1.0186	6	0.31617	T	0.26	.	1.6971	0.02864	0.2693:0.2644:0.0:0.4663	.	.	.	.	S	25	ENSP00000313299:N25S;ENSP00000397644:N25S	ENSP00000313299:N25S	N	-	2	0	RFX7	54322702	0.761000	0.28439	0.997000	0.53966	0.994000	0.84299	0.111000	0.15458	0.339000	0.23719	0.377000	0.23210	AAC		0.652	RFX7-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_022841		15:56535410
DNAH3	55567	broad.mit.edu	37	16	21082034	21082034	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:21082034G>A	ENST00000261383.3	-	22	3197	c.3198C>T	c.(3196-3198)tgC>tgT	p.C1066C	DNAH3_ENST00000415178.1_Silent_p.C1066C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1066	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTTACCCGGCATTCTGCTT	0.428																																						ENST00000261383.3		NA																	0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3196-3198)tgC>tgT		dynein, axonemal, heavy chain 3							203.0	187.0	192.0					16																	21082034		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21082034G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3198C>T	16.37:g.21082034G>A		False	False		Somatic	0				DNAH3_ENST00000415178.1_Silent_p.C1066C	p.C1066C	NM_017539.1	NP_060009.1	WXS	Illumina HiSeq	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3197	-			1066			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3198C>T	CCDS10594.1																																																																																				0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	0	NM_017539		16:21082034
DNAH5	1767	broad.mit.edu	37	5	13811871	13811871	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:13811871G>A	ENST00000265104.4	-	44	7396	c.7292C>T	c.(7291-7293)tCt>tTt	p.S2431F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2431	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTGGGAAAGACTCGGTGTA	0.428									Kartagener syndrome																													ENST00000265104.4		NA																	0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(7291-7293)tCt>tTt		dynein, axonemal, heavy chain 5							92.0	89.0	90.0					5																	13811871		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13811871G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7292C>T	5.37:g.13811871G>A	ENSP00000265104:p.Ser2431Phe	True	False		Somatic	0					p.S2431F	NM_001369.2	NP_001360.1	WXS	Illumina HiSeq	Phase_I	Q8TE73	DYH5_HUMAN			44	7396	-	Lung NSC(4;0.00476)		2431			AAA 2 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.7292C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	4.470	0.087128	0.08583	.	.	ENSG00000039139	ENST00000265104	T	0.22945	1.93	5.78	4.9	0.64082	.	0.168536	0.53938	D	0.000044	T	0.30885	0.0779	M	0.74647	2.275	0.58432	D	0.999996	B	0.06786	0.001	B	0.11329	0.006	T	0.12604	-1.0541	10	0.16896	T	0.51	.	16.0245	0.80532	0.0:0.0:0.8645:0.1355	.	2431	Q8TE73	DYH5_HUMAN	F	2431	ENSP00000265104:S2431F	ENSP00000265104:S2431F	S	-	2	0	DNAH5	13864871	1.000000	0.71417	0.799000	0.32177	0.128000	0.20619	7.880000	0.87243	1.403000	0.46800	0.650000	0.86243	TCT		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	0	NM_001369		5:13811871
ZNF154	7710	broad.mit.edu	37	19	58216263	58216263	+	Missense_Mutation	SNP	G	G	A	rs376733811		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:58216263G>A	ENST00000512439.2	-	2	314	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R40C			Q13106	ZN154_HUMAN	zinc finger protein 154	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCACATCACGGTACAGGCAT	0.507																																						ENST00000512439.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12						c.(118-120)Cgt>Tgt		zinc finger protein 154		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	177.0	168.0	171.0		118	1.7	0.4	19		171	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF154	NM_001085384.1	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	40/438	58216263	3,13003	2203	4300	6503	SO:0001583	missense	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58216263G>A	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.118C>T	19.37:g.58216263G>A	ENSP00000421258:p.Arg40Cys	False	False		Somatic	0				AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R40C	p.R40C			WXS	Illumina HiSeq	Phase_I	Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	314	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	40			KRAB.		A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	c.118C>T	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650024	0.29336	2.27E-4	2.33E-4	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.02812	4.15;4.15	2.78	1.73	0.24493	Krueppel-associated box (4);	.	.	.	.	T	0.04227	0.0117	M	0.67569	2.06	0.18873	N	0.999987	B	0.14438	0.01	B	0.11329	0.006	T	0.32079	-0.9920	9	0.52906	T	0.07	.	5.3394	0.15974	0.1627:0.0:0.8373:0.0	.	40	Q13106	ZN154_HUMAN	C	40	ENSP00000421258:R40C;ENSP00000442370:R40C	ENSP00000442370:R40C	R	-	1	0	ZNF154	62908075	0.000000	0.05858	0.360000	0.25837	0.915000	0.54546	-0.647000	0.05397	0.741000	0.32674	0.313000	0.20887	CGT		0.507	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2	0			19:58216263
OR13C2	392376	broad.mit.edu	37	9	107367884	107367884	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:107367884G>C	ENST00000542196.1	-	1	67	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L9V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTCCACCAGAATGGTGTGG	0.373																																						ENST00000542196.1		NA																	1	Substitution - Missense(1)	p.L9V(1)	cervix(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(25-27)Ctg>Gtg		olfactory receptor, family 13, subfamily C, member 2							47.0	52.0	50.0					9																	107367884		2195	4299	6494	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367884G>C		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.25C>G	9.37:g.107367884G>C	ENSP00000438815:p.Leu9Val	False	False		Somatic	0					p.L9V	NM_001004481.1	NP_001004481.1	WXS	Illumina HiSeq	Phase_I	Q8NGS9	O13C2_HUMAN			1	67	-			9					B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.25C>G	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.111042	0.00353	.	.	ENSG00000257019	ENST00000542196	T	0.00299	8.22	3.39	-1.19	0.09585	.	0.313759	0.16689	U	0.203629	T	0.00039	0.0001	N	0.00081	-2.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47114	-0.9142	10	0.02654	T	1	.	0.7009	0.00908	0.3362:0.1654:0.331:0.1674	.	9	Q8NGS9	O13C2_HUMAN	V	9	ENSP00000438815:L9V	ENSP00000438815:L9V	L	-	1	2	OR13C2	106407705	0.000000	0.05858	0.093000	0.20910	0.892000	0.51952	-2.895000	0.00707	-0.123000	0.11745	-0.379000	0.06801	CTG		0.373	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	0	NM_001004481		9:107367884
CAMK1D	57118	broad.mit.edu	37	10	12870810	12870810	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:12870810C>T	ENST00000378847.3	+	11	1419	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	361	Ser-rich.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCTTCTTCGTCGGGGGTCTCA	0.592																																						ENST00000378847.3		NA																	0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(1081-1083)tCg>tTg		calcium/calmodulin-dependent protein kinase ID							70.0	68.0	69.0					10																	12870810		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12870810C>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.1082C>T	10.37:g.12870810C>T	ENSP00000368124:p.Ser361Leu	True	False		Somatic	0					p.S361L	NM_153498.2	NP_705718.1	WXS	Illumina HiSeq	Phase_I	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	11	1419	+			361			Ser-rich.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.1082C>T	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260463	0.59431	.	.	ENSG00000183049	ENST00000378847	T	0.68479	-0.33	5.39	5.39	0.77823	.	0.318671	0.30695	N	0.009065	T	0.52240	0.1722	N	0.22421	0.69	0.80722	D	1	B	0.30634	0.288	B	0.19148	0.024	T	0.54476	-0.8288	10	0.51188	T	0.08	-3.006	16.3016	0.82820	0.0:1.0:0.0:0.0	.	361	Q8IU85	KCC1D_HUMAN	L	361	ENSP00000368124:S361L	ENSP00000368124:S361L	S	+	2	0	CAMK1D	12910816	0.995000	0.38212	0.026000	0.17262	0.974000	0.67602	5.608000	0.67654	2.518000	0.84900	0.655000	0.94253	TCG		0.592	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	0	NM_020397		10:12870810
SGIP1	84251	broad.mit.edu	37	1	67137671	67137671	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:67137671C>A	ENST00000371037.4	+	11	630	c.553C>A	c.(553-555)Ctt>Att	p.L185I	SGIP1_ENST00000371035.3_Missense_Mutation_p.L142I|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.L153I|SGIP1_ENST00000371036.3_Missense_Mutation_p.L152I|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.L189I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	185	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AACTCCAGAACTTATAAGGTG	0.403																																						ENST00000371037.4		NA																	0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(553-555)Ctt>Att		SH3-domain GRB2-like (endophilin) interacting protein 1							115.0	109.0	111.0					1																	67137671		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67137671C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.553C>A	1.37:g.67137671C>A	ENSP00000360076:p.Leu185Ile	False	False		Somatic	0				AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.L189I|SGIP1_ENST00000371039.1_Missense_Mutation_p.L153I|SGIP1_ENST00000371035.3_Missense_Mutation_p.L142I|SGIP1_ENST00000371036.3_Missense_Mutation_p.L152I	p.L185I	NM_032291.2	NP_115667.2	WXS	Illumina HiSeq	Phase_I	Q9BQI5	SGIP1_HUMAN			11	630	+			185			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.553C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893702	0.33442	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.17370	2.28;3.98;3.98;2.28;3.98;2.28	5.53	5.53	0.82687	.	0.251717	0.41001	D	0.000975	T	0.08223	0.0205	L	0.36672	1.1	0.28969	N	0.889373	B	0.06786	0.001	B	0.06405	0.002	T	0.06972	-1.0797	10	0.37606	T	0.19	-17.8373	19.4593	0.94910	0.0:1.0:0.0:0.0	.	185	Q9BQI5	SGIP1_HUMAN	I	189;153;177;142;188;188;152;185	ENSP00000237247:L189I;ENSP00000360078:L153I;ENSP00000410439:L177I;ENSP00000360074:L142I;ENSP00000360075:L152I;ENSP00000360076:L185I	ENSP00000237247:L189I	L	+	1	0	SGIP1	66910259	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.925000	0.70062	2.601000	0.87937	0.563000	0.77884	CTT		0.403	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	0	NM_032291		1:67137671
ZNF366	167465	broad.mit.edu	37	5	71739855	71739855	+	Missense_Mutation	SNP	C	C	T	rs112462947	byFrequency	TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:71739855C>T	ENST00000318442.5	-	5	2453	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	655	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACCTCGGGGGCGTGCTCCGAC	0.642																																						ENST00000318442.5		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1963-1965)Gcc>Acc		zinc finger protein 366		C	THR/ALA	3,4403	8.1+/-20.4	0,3,2200	139.0	144.0	142.0		1963	4.1	0.0	5	dbSNP_132	142	0,8600		0,0,4300	no	missense	ZNF366	NM_152625.1	58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	655/745	71739855	3,13003	2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739855C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1963G>A	5.37:g.71739855C>T	ENSP00000313158:p.Ala655Thr	True	False		Somatic	0					p.A655T	NM_152625.1	NP_689838.1	WXS	Illumina HiSeq	Phase_I	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2453	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	655					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1963G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943458	0.34283	6.81E-4	0.0	ENSG00000178175	ENST00000318442	T	0.08546	3.08	5.87	4.08	0.47627	.	1.645490	0.02889	N	0.133862	T	0.04679	0.0127	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.38329	-0.9666	10	0.15499	T	0.54	-1.5779	7.1067	0.25368	0.0:0.6577:0.1261:0.2163	.	655	Q8N895	ZN366_HUMAN	T	655	ENSP00000313158:A655T	ENSP00000313158:A655T	A	-	1	0	ZNF366	71775611	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.255000	0.18333	0.919000	0.36945	0.655000	0.94253	GCC		0.642	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3	0			5:71739855
ADM	133	broad.mit.edu	37	11	10327978	10327978	+	Silent	SNP	G	G	A	rs367972567		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:10327978G>A	ENST00000528655.1	+	3	965	c.348G>A	c.(346-348)acG>acA	p.T116T	ADM_ENST00000525063.1_Silent_p.T116T|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000530439.1_Silent_p.T48T|ADM_ENST00000526492.1_Missense_Mutation_p.G127S|ADM_ENST00000278175.5_Silent_p.T116T|ADM_ENST00000534464.1_Silent_p.T69T			P35318	ADML_HUMAN	adrenomedullin	116					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GGACGTGCACGGTGCAGAAGC	0.642																																						ENST00000526492.1		NA																	0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(379-381)Ggt>Agt		adrenomedullin							35.0	36.0	36.0					11																	10327978		2201	4294	6495	SO:0001819	synonymous_variant	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327978G>A	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.348G>A	11.37:g.10327978G>A		False	False		Somatic	0				ADM_ENST00000525063.1_Silent_p.T116T|ADM_ENST00000534464.1_Silent_p.T69T|ADM_ENST00000530439.1_Silent_p.T48T|ADM_ENST00000278175.5_Silent_p.T116T|ADM_ENST00000528655.1_Silent_p.T116T	p.G127S			WXS	Illumina HiSeq	Phase_I	P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	4	542	+			0					B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	c.379G>A	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354363	0.41700	.	.	ENSG00000148926	ENST00000526492	T	0.38887	1.11	5.58	-8.42	0.00957	.	.	.	.	.	T	0.33059	0.0850	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.51044	-0.8755	6	0.87932	D	0	-19.2336	5.6872	0.17809	0.2155:0.3914:0.3179:0.0752	.	.	.	.	S	127	ENSP00000434354:G127S	ENSP00000434354:G127S	G	+	1	0	ADM	10284554	0.101000	0.21875	0.568000	0.28447	0.908000	0.53690	-1.312000	0.02720	-1.324000	0.02272	-1.567000	0.00876	GGT		0.642	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	0	NM_001124		11:10327978
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:137328351C>T	ENST00000481739.1	+	10	1332	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.S330F	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCTCTGCGCTCCATCGGGCTC	0.607																																						ENST00000540193.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(988-990)tCc>tTc		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						132.0	117.0	122.0					9																	137328351		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328351C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>T	9.37:g.137328351C>T	ENSP00000419692:p.Ser427Phe	False	False		Somatic	0				RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR	p.S330F			WXS	Illumina HiSeq	Phase_I	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	9	1912	+			427			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.989C>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825420	0.90955	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96940	-4.18;-4.18	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	F	427;330	ENSP00000419692:S427F;ENSP00000442123:S330F	ENSP00000419692:S427F	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	0	NM_002957		9:137328351
FAM135B	51059	broad.mit.edu	37	8	139380170	139380170	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:139380170A>T	ENST00000395297.1	-	2	227	c.57T>A	c.(55-57)aaT>aaA	p.N19K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	19										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAGATCCACATTATAAAATT	0.378										HNSCC(54;0.14)																												ENST00000395297.1		NA																	0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(55-57)aaT>aaA		family with sequence similarity 135, member B							139.0	132.0	134.0					8																	139380170		1862	4104	5966	SO:0001583	missense	51059							g.chr8:139380170A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.57T>A	8.37:g.139380170A>T	ENSP00000378710:p.Asn19Lys	False	False	HNSCC(54;0.14)	Somatic	0					p.N19K	NM_015912.3	NP_056996.2	WXS	Illumina HiSeq	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	227	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		19					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.57T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982567	0.74474	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.49720	0.77	5.54	1.82	0.25136	.	0.000000	0.56097	U	0.000024	T	0.58424	0.2121	M	0.83774	2.66	0.43683	D	0.996128	D	0.59767	0.986	P	0.53266	0.722	T	0.62081	-0.6929	10	0.87932	D	0	-4.8353	8.7599	0.34667	0.7748:0.0:0.2252:0.0	.	19	Q49AJ0	F135B_HUMAN	K	19	ENSP00000378710:N19K	ENSP00000160713:N19K	N	-	3	2	FAM135B	139449352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.914000	0.56401	0.460000	0.27045	0.459000	0.35465	AAT		0.378	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	0	NM_015912		8:139380170
TAF4	6874	broad.mit.edu	37	20	60585136	60585136	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:60585136A>G	ENST00000252996.4	-	4	1726	c.1727T>C	c.(1726-1728)gTa>gCa	p.V576A	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	576					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGCCCCTGGTACCGTGCGCTG	0.617																																						ENST00000252996.4		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1726-1728)gTa>gCa		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							97.0	77.0	84.0					20																	60585136		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60585136A>G	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1727T>C	20.37:g.60585136A>G	ENSP00000252996:p.Val576Ala	False	False		Somatic	0				TAF4_ENST00000609045.1_5'UTR	p.V576A	NM_003185.3	NP_003176.2	WXS	Illumina HiSeq	Phase_I	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		4	1726	-	Breast(26;1e-08)		NA					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.1727T>C	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	A	8.390	0.839537	0.16891	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.23348	1.92;1.91	4.8	3.65	0.41850	.	0.449437	0.23513	N	0.047377	T	0.15782	0.0380	L	0.44542	1.39	0.43471	D	0.995686	P	0.34699	0.464	B	0.28709	0.093	T	0.03739	-1.1008	10	0.02654	T	1	-10.3553	10.7964	0.46464	0.8585:0.0:0.0:0.1414	.	576	O00268	TAF4_HUMAN	A	576;440	ENSP00000252996:V576A;ENSP00000399091:V440A	ENSP00000252996:V576A	V	-	2	0	TAF4	60018531	1.000000	0.71417	0.628000	0.29241	0.112000	0.19704	6.400000	0.73252	1.805000	0.52779	0.260000	0.18958	GTA		0.617	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	0	NM_003185		20:60585136
HOXB3	3213	broad.mit.edu	37	17	46627995	46627995	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:46627995C>T	ENST00000470495.1	-	2	2444	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.V260I|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.V260I|HOXB3_ENST00000498678.1_Missense_Mutation_p.V333I|HOXB3_ENST00000460160.1_Missense_Mutation_p.V201I|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.V199I|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.V201I|HOXB3_ENST00000476342.1_Missense_Mutation_p.V333I|HOXB3_ENST00000311626.4_Missense_Mutation_p.V333I			P14651	HXB3_HUMAN	homeobox B3	333					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCTTGGAGGACGTGCGGCTCA	0.721											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000470495.1		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(997-999)Gtc>Atc		homeobox B3							20.0	27.0	25.0					17																	46627995		2194	4287	6481	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46627995C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.997G>A	17.37:g.46627995C>T	ENSP00000417207:p.Val333Ile	False	False		Somatic	0	OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.V199I|HOXB3_ENST00000460160.1_Missense_Mutation_p.V201I|HOXB3_ENST00000472863.1_Missense_Mutation_p.V260I|HOXB3_ENST00000489475.1_Missense_Mutation_p.V260I|HOXB3_ENST00000476342.1_Missense_Mutation_p.V333I|HOXB3_ENST00000311626.4_Missense_Mutation_p.V333I|HOXB3_ENST00000498678.1_Missense_Mutation_p.V333I|HOXB3_ENST00000485909.2_Missense_Mutation_p.V201I|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS3_ENST00000465846.2_RNA	p.V333I			WXS	Illumina HiSeq	Phase_I	P14651	HXB3_HUMAN			2	2444	-			333					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.997G>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348351	0.24426	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.90844	-2.66;-2.63;-2.66;-2.66;-2.74;-2.74;-2.74;-2.63;-2.66	3.8	2.83	0.33086	.	0.243879	0.32671	N	0.005796	D	0.83815	0.5336	L	0.38175	1.15	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.77653	-0.2507	10	0.37606	T	0.19	.	9.3477	0.38118	0.0:0.8227:0.0:0.1773	.	333	P14651	HXB3_HUMAN	I	333;260;333;333;199;201;201;260;333	ENSP00000417207:V333I;ENSP00000419676:V260I;ENSP00000308252:V333I;ENSP00000420595:V333I;ENSP00000449977:V199I;ENSP00000418035:V201I;ENSP00000438747:V201I;ENSP00000418729:V260I;ENSP00000418892:V333I	ENSP00000308252:V333I	V	-	1	0	HOXB3	43982994	0.002000	0.14202	1.000000	0.80357	0.921000	0.55340	-0.007000	0.12810	0.950000	0.37743	-0.448000	0.05591	GTC		0.721	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1	0			17:46627995
MTNR1B	4544	broad.mit.edu	37	11	92715455	92715455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:92715455C>T	ENST00000257068.2	+	2	1072	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	356					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CATTGGTGTGCAGCACCAGGC	0.587																																						ENST00000257068.2		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(1066-1068)Cag>Tag		melatonin receptor 1B	Ramelteon(DB00980)						41.0	43.0	42.0					11																	92715455		2201	4298	6499	SO:0001587	stop_gained	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715455C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1066C>T	11.37:g.92715455C>T	ENSP00000257068:p.Gln356*	False	False		Somatic	0					p.Q356*	NM_005959.3	NP_005950.1	WXS	Illumina HiSeq	Phase_I	P49286	MTR1B_HUMAN			2	1072	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	356						Nonsense_Mutation	SNP	ENST00000257068.2	37	c.1066C>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057149	0.55325	.	.	ENSG00000134640	ENST00000257068	.	.	.	4.33	1.14	0.20703	.	0.742407	0.11795	N	0.528738	.	.	.	.	.	.	0.22903	N	0.998589	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	0.0638	5.3884	0.16229	0.3637:0.5314:0.0:0.1049	.	.	.	.	X	356	.	ENSP00000257068:Q356X	Q	+	1	0	MTNR1B	92355103	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	0.212000	0.17497	0.328000	0.23435	0.313000	0.20887	CAG		0.587	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1	0			11:92715455
AIDA	64853	broad.mit.edu	37	1	222885606	222885606	+	Missense_Mutation	SNP	T	T	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:222885606T>G	ENST00000340020.6	-	1	260	c.54A>C	c.(52-54)agA>agC	p.R18S	BROX_ENST00000340934.5_5'Flank|AIDA_ENST00000541237.1_Intron|BROX_ENST00000539697.1_5'Flank|AIDA_ENST00000355727.2_Missense_Mutation_p.R18S|BROX_ENST00000537020.1_5'Flank|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	18					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						AGTCGGCGCCTCTCCTAAAAC	0.672																																						ENST00000340020.6		NA																	0				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(52-54)agA>agC		axin interactor, dorsalization associated							18.0	15.0	16.0					1																	222885606		2200	4293	6493	SO:0001583	missense	64853				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			g.chr1:222885606T>G	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.54A>C	1.37:g.222885606T>G	ENSP00000339161:p.Arg18Ser	False	False		Somatic	0				AIDA_ENST00000355727.2_Missense_Mutation_p.R18S|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Intron	p.R18S	NM_022831.2	NP_073742.2	WXS	Illumina HiSeq	Phase_I	Q96BJ3	AIDA_HUMAN			1	260	-			18					A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	c.54A>C	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404232	0.62288	.	.	ENSG00000186063	ENST00000340020;ENST00000355727	.	.	.	5.51	-0.695	0.11291	Axin interactor, dorsalization-associated protein, N-terminal (2);	0.043570	0.85682	D	0.000000	T	0.40222	0.1108	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.20577	0.03	T	0.26849	-1.0091	9	0.72032	D	0.01	.	10.6482	0.45632	0.0:0.4119:0.0:0.5881	.	18	Q96BJ3	AIDA_HUMAN	S	18	.	ENSP00000339161:R18S	R	-	3	2	AIDA	220952229	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	0.355000	0.20163	0.071000	0.16664	-0.432000	0.05891	AGA		0.672	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	0	NM_022831		1:222885606
GRN	2896	broad.mit.edu	37	17	42428464	42428464	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:42428464C>A	ENST00000053867.3	+	8	830	c.768C>A	c.(766-768)atC>atA	p.I256I	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	256					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGACCTGATCCAGAGTAAGT	0.607											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000053867.3		NA																	0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(766-768)atC>atA		granulin							112.0	102.0	105.0					17																	42428464		2203	4300	6503	SO:0001819	synonymous_variant	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42428464C>A	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.768C>A	17.37:g.42428464C>A		False	False		Somatic	0	OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	908	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR	p.I256I	NM_002087.2	NP_002078.1	WXS	Illumina HiSeq	Phase_I	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	830	+		Prostate(33;0.0181)	256					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	ENST00000053867.3	37	c.768C>A	CCDS11483.1																																																																																				0.607	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	0	NM_002087		17:42428464
TMEM132D	121256	broad.mit.edu	37	12	130184899	130184899	+	Missense_Mutation	SNP	G	G	A	rs368850505		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:130184899G>A	ENST00000422113.2	-	2	750	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	142					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGGGCCGGCTCAGGTAG	0.527																																						ENST00000422113.2		NA																	0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(424-426)Cgg>Tgg		transmembrane protein 132D		G	TRP/ARG	0,4406		0,0,2203	38.0	38.0	38.0		424	3.3	1.0	12		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132D	NM_133448.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	142/1100	130184899	1,13005	2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184899G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.424C>T	12.37:g.130184899G>A	ENSP00000408581:p.Arg142Trp	False	False		Somatic	0					p.R142W	NM_133448.2	NP_597705.2	WXS	Illumina HiSeq	Phase_I	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	750	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	142					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.424C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019720	0.19355	0.0	1.16E-4	ENSG00000151952	ENST00000422113	T	0.12984	2.63	5.33	3.3	0.37823	.	0.515638	0.16729	N	0.201915	T	0.16599	0.0399	M	0.71036	2.16	0.23449	N	0.997652	B	0.22211	0.066	B	0.12156	0.007	T	0.10894	-1.0610	9	.	.	.	-20.3601	11.7484	0.51835	0.0:0.0:0.3963:0.6037	.	142	Q14C87	T132D_HUMAN	W	142	ENSP00000408581:R142W	.	R	-	1	2	TMEM132D	128750852	0.995000	0.38212	0.978000	0.43139	0.278000	0.26855	1.468000	0.35332	1.208000	0.43306	-0.324000	0.08512	CGG		0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	0	NM_133448		12:130184899
XYLT1	64131	broad.mit.edu	37	16	17228362	17228362	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:17228362C>T	ENST00000261381.6	-	9	2079	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	665			T -> M. {ECO:0000269|PubMed:16571645}.		cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.T665T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTGCAGGGACGTCTCGGCCC	0.607																																						ENST00000261381.6		NA																	1	Substitution - coding silent(1)	p.T665T(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1993-1995)acG>acA		xylosyltransferase I							73.0	63.0	67.0					16																	17228362		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17228362C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1995G>A	16.37:g.17228362C>T		False	False		Somatic	0				CTD-2576D5.4_ENST00000567344.1_RNA	p.T665T	NM_022166.3	NP_071449.1	WXS	Illumina HiSeq	Phase_I	Q86Y38	XYLT1_HUMAN			9	2079	-			665					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.1995G>A	CCDS10569.1																																																																																				0.607	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	0	NM_022166		16:17228362
HNF4G	3174	broad.mit.edu	37	8	76459877	76459877	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:76459877C>A	ENST00000354370.1	+	4	472	c.202C>A	c.(202-204)Cga>Aga	p.R68R	HNF4G_ENST00000396423.2_Silent_p.R105R			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	68					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TAGATATTGTCGATTAAGAAA	0.294																																						ENST00000396423.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(313-315)Cga>Aga		hepatocyte nuclear factor 4, gamma							134.0	136.0	135.0					8																	76459877		2203	4299	6502	SO:0001819	synonymous_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76459877C>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.202C>A	8.37:g.76459877C>A		False	False		Somatic	0				HNF4G_ENST00000354370.1_Silent_p.R68R	p.R105R	NM_004133.4	NP_004124.4	WXS	Illumina HiSeq	Phase_I	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		3	437	+	Breast(64;0.0448)		68					Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37	c.313C>A																																																																																					0.294	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	0	NM_004133		8:76459877
KCNK3	3777	broad.mit.edu	37	2	26950912	26950912	+	Missense_Mutation	SNP	G	G	A	rs398123041		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:26950912G>A	ENST00000302909.3	+	2	786	c.661G>A	c.(661-663)Gtg>Atg	p.V221M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	221			V -> L (in PPH4; loss of function). {ECO:0000269|PubMed:23883380}.		brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCCGCAGTACGTGGCCTTCAG	0.617																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3		NA																	0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(661-663)Gtg>Atg		potassium channel, subfamily K, member 3							85.0	66.0	73.0					2																	26950912		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950912G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.661G>A	2.37:g.26950912G>A	ENSP00000306275:p.Val221Met	False	False		Somatic	0					p.V221M	NM_002246.2	NP_002237.1	WXS	Illumina HiSeq	Phase_I	O14649	KCNK3_HUMAN			2	786	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		221					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.661G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236658	0.79800	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.28895	1.59	4.72	4.72	0.59763	Ion transport 2 (1);	0.206931	0.40818	N	0.001017	T	0.52092	0.1713	L	0.59967	1.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.55471	-0.8136	10	0.87932	D	0	.	15.5289	0.75936	0.0:0.0:1.0:0.0	.	221	O14649	KCNK3_HUMAN	M	98;221	ENSP00000306275:V221M	ENSP00000306275:V221M	V	+	1	0	KCNK3	26804416	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.638000	0.98445	2.303000	0.77524	0.556000	0.70494	GTG		0.617	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	0	NM_002246		2:26950912
CMIP	80790	broad.mit.edu	37	16	81479102	81479102	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:81479102C>G	ENST00000537098.3	+	1	328	c.256C>G	c.(256-258)Ccg>Gcg	p.P86A		NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	86	PH.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GCGCTGGGAGCCGCACCACCT	0.667																																						ENST00000537098.3		NA																	0				endometrium(5)|kidney(1)|lung(7)	13						c.(256-258)Ccg>Gcg		c-Maf inducing protein							17.0	21.0	20.0					16																	81479102		1935	4104	6039	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81479102C>G	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.256C>G	16.37:g.81479102C>G	ENSP00000446100:p.Pro86Ala	False	False		Somatic	0					p.P86A	NM_198390.2	NP_938204.2	WXS	Illumina HiSeq	Phase_I	Q8IY22	CMIP_HUMAN			1	328	+			52			PH.		Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.256C>G	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744161	0.49151	.	.	ENSG00000153815	ENST00000537098	T	0.29142	1.58	2.97	2.97	0.34412	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.36303	U	0.002668	T	0.16938	0.0407	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.05225	-1.0898	10	0.42905	T	0.14	.	14.1926	0.65649	0.0:1.0:0.0:0.0	.	86	Q8IY22	CMIP_HUMAN	A	86	ENSP00000446100:P86A	ENSP00000446100:P86A	P	+	1	0	CMIP	80036603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.464000	0.73534	1.329000	0.45376	0.313000	0.20887	CCG		0.667	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	0	NM_030629		16:81479102
TP53	7157	broad.mit.edu	37	17	7578260	7578260	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:7578260C>T	ENST00000269305.4	-	6	778	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	TP53_ENST00000455263.2_Missense_Mutation_p.V197M|TP53_ENST00000420246.2_Missense_Mutation_p.V197M|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V197M|TP53_ENST00000413465.2_Missense_Mutation_p.V197M|TP53_ENST00000445888.2_Missense_Mutation_p.V197M	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	197	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> E (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and 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.V197M(10)|p.0?(8)|p.V197L(6)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.V104L(1)|p.V65L(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(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)	TTTCCTTCCACTCGGATAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		42	Substitution - Missense(18)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Complex - deletion inframe(5)|Complex - frameshift(1)	p.V197M(10)|p.0?(8)|p.V197L(6)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.V104L(1)|p.V65L(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1)	breast(6)|biliary_tract(5)|large_intestine(5)|liver(5)|skin(4)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|stomach(1)|oesophagus(1)|ovary(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	CM070297	TP53	M		c.(589-591)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							108.0	96.0	100.0					17																	7578260		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.chr17:7578260C>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.589G>A	17.37:g.7578260C>T	ENSP00000269305:p.Val197Met	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_ENST00000445888.2_Missense_Mutation_p.V197M|TP53_ENST00000359597.4_Missense_Mutation_p.V197M|TP53_ENST00000413465.2_Missense_Mutation_p.V197M|TP53_ENST00000455263.2_Missense_Mutation_p.V197M|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V197M	p.V197M	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)	6	721	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	197		V -> E (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and 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.589G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638630	0.47153	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.059878	0.64402	D	0.000004	D	0.99743	0.9898	M	0.77820	2.39	0.52099	D	0.999948	D;D;D;D;D;D;D	0.89917	1.0;0.992;0.999;1.0;0.988;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.972;0.996;1.0;0.97;0.999;1.0	D	0.97268	0.9909	10	0.66056	D	0.02	-16.054	12.3714	0.55256	0.0:0.9175:0.0:0.0824	.	158;197;197;104;197;197;197	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	197;197;197;197;197;197;186;104;65;104;65	ENSP00000410739:V197M;ENSP00000352610:V197M;ENSP00000269305:V197M;ENSP00000398846:V197M;ENSP00000391127:V197M;ENSP00000391478:V197M;ENSP00000425104:V65M;ENSP00000423862:V104M	ENSP00000269305:V197M	V	-	1	0	TP53	7518985	0.994000	0.37717	0.999000	0.59377	0.021000	0.10359	3.252000	0.51461	1.420000	0.47138	0.655000	0.94253	GTG		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578260
KLHDC8A	55220	broad.mit.edu	37	1	205312564	205312564	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:205312564C>T	ENST00000367156.3	-	5	985	c.169G>A	c.(169-171)Gac>Aac	p.D57N	KLHDC8A_ENST00000606529.1_5'Flank|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D57N|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D57N	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	57										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCCACTGGTCGGCCTCCGGG	0.701																																						ENST00000367156.3		NA																	0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(169-171)Gac>Aac		kelch domain containing 8A							40.0	42.0	42.0					1																	205312564		2202	4299	6501	SO:0001583	missense	55220							g.chr1:205312564C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.169G>A	1.37:g.205312564C>T	ENSP00000356124:p.Asp57Asn	False	False		Somatic	0				KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D57N|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D57N|KLHDC8A_ENST00000460687.1_Intron	p.D57N	NM_001271863.1	NP_001258792.1	WXS	Illumina HiSeq	Phase_I	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	985	-	Breast(84;0.23)		57					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.169G>A	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041237	0.55003	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253	T;T;T	0.73789	-0.78;-0.78;-0.78	5.55	5.55	0.83447	Kelch-type beta propeller (1);	0.048810	0.85682	D	0.000000	T	0.53367	0.1792	N	0.25144	0.715	0.45690	D	0.998606	B	0.25809	0.135	B	0.18561	0.022	T	0.51148	-0.8742	10	0.02654	T	1	-33.1818	9.7742	0.40609	0.0:0.8459:0.0:0.1541	.	57	Q8IYD2	KLD8A_HUMAN	N	57	ENSP00000356123:D57N;ENSP00000356124:D57N;ENSP00000442229:D57N	ENSP00000356123:D57N	D	-	1	0	KLHDC8A	203579187	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.678000	0.46900	2.590000	0.87494	0.655000	0.94253	GAC		0.701	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	0	NM_018203		1:205312564
DHRS4L1	728635	broad.mit.edu	37	14	24505740	24505740	+	RNA	SNP	G	G	A	rs556461153		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:24505740G>A	ENST00000558293.1	+	0	79					NR_102693.1																						AGGCCACTGTGCCCGGGCAGG	0.657																																						ENST00000558293.1		NA																	0					NA															44.0	45.0	44.0					14																	24505740		2203	4300	6503			0							g.chr14:24505740G>A																													14.37:g.24505740G>A		True	False		Somatic	0						NR_102693.1		WXS	Illumina HiSeq	Phase_I					0	79	+			NA						RNA	SNP	ENST00000558293.1	37			.	.	.	.	.	.	.	.	.	.	-	6.344	0.431578	0.12045	.	.	ENSG00000225766	ENST00000397065	.	.	.	1.94	-0.058	0.13799	.	.	.	.	.	T	0.20780	0.0500	N	0.17872	0.535	.	.	.	B	0.13145	0.007	B	0.09377	0.004	T	0.29852	-0.9998	7	0.14656	T	0.56	.	3.9397	0.09321	0.4481:0.0:0.5519:0.0	.	11	P0CG22	DR4L1_HUMAN	T	11	.	ENSP00000380255:A11T	A	+	1	0	AL136295.1	23575580	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.229000	0.09098	-0.022000	0.13986	0.194000	0.17425	GCC		0.657	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1	0			14:24505740
SSTR1	6751	broad.mit.edu	37	14	38678945	38678945	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:38678945C>T	ENST00000267377.2	+	3	968	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	117					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	TAGTCACCTCCACGTTGTTGC	0.577																																						ENST00000267377.2		NA																	0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(349-351)tcC>tcT		somatostatin receptor 1	Octreotide(DB00104)						202.0	182.0	189.0					14																	38678945		2203	4300	6503	SO:0001819	synonymous_variant	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678945C>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.351C>T	14.37:g.38678945C>T		False	False		Somatic	0					p.S117S	NM_001049.2	NP_001040.1	WXS	Illumina HiSeq	Phase_I	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	968	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		117						Silent	SNP	ENST00000267377.2	37	c.351C>T	CCDS9666.1																																																																																				0.577	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2	0			14:38678945
ASZ1	136991	broad.mit.edu	37	7	117008694	117008694	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:117008694A>G	ENST00000284629.2	-	11	1195	c.1133T>C	c.(1132-1134)aTt>aCt	p.I378T		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TAACTCAGTAATAACATTCTG	0.308																																						ENST00000284629.2		NA																	0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(1132-1134)aTt>aCt		ankyrin repeat, SAM and basic leucine zipper domain containing 1							99.0	107.0	104.0					7																	117008694		2202	4292	6494	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117008694A>G	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1133T>C	7.37:g.117008694A>G	ENSP00000284629:p.Ile378Thr	False	False		Somatic	0					p.I378T	NM_130768.2	NP_570124.1	WXS	Illumina HiSeq	Phase_I	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		11	1195	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		378						Missense_Mutation	SNP	ENST00000284629.2	37	c.1133T>C	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166072	0.57476	.	.	ENSG00000154438	ENST00000284629	T	0.29917	1.55	5.2	5.2	0.72013	.	0.287809	0.37437	N	0.002082	T	0.39009	0.1062	L	0.56769	1.78	0.35036	D	0.759246	D;D	0.58970	0.984;0.984	P;P	0.53360	0.724;0.724	T	0.50833	-0.8781	10	0.29301	T	0.29	-0.4577	9.8129	0.40835	0.745:0.0:0.0:0.255	.	378;378	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	T	378	ENSP00000284629:I378T	ENSP00000284629:I378T	I	-	2	0	ASZ1	116795930	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.628000	0.46477	2.102000	0.63906	0.459000	0.35465	ATT		0.308	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	0	NM_130768		7:117008694
MBD5	55777	broad.mit.edu	37	2	149227347	149227347	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:149227347G>A	ENST00000407073.1	+	9	2832	c.1835G>A	c.(1834-1836)gGc>gAc	p.G612D	MBD5_ENST00000404807.1_Missense_Mutation_p.G612D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	612					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCGGCAGTGGCAACACTGAA	0.488																																						ENST00000407073.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(1834-1836)gGc>gAc		methyl-CpG binding domain protein 5							124.0	115.0	118.0					2																	149227347		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227347G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1835G>A	2.37:g.149227347G>A	ENSP00000386049:p.Gly612Asp	False	False		Somatic	0				MBD5_ENST00000404807.1_Missense_Mutation_p.G612D	p.G612D	NM_018328.4	NP_060798.2	WXS	Illumina HiSeq	Phase_I	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	2832	+			612					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.1835G>A	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.25|16.25	3.069142|3.069142	0.55539|0.55539	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.49432	.|0.79;0.78	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.64402	.|D	.|0.000019	T|T	0.50222|0.50222	0.1603|0.1603	N|N	0.24115|0.24115	0.695|0.695	0.50039|0.50039	D|D	0.999846|0.999846	.|D;D	.|0.55172	.|0.97;0.969	.|P;P	.|0.57324	.|0.818;0.785	T|T	0.48559|0.48559	-0.9025|-0.9025	5|10	.|0.42905	.|T	.|0.14	-4.4542|-4.4542	16.6845|16.6845	0.85301|0.85301	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|612;612	.|Q9P267-2;Q9P267	.|.;MBD5_HUMAN	T|D	352|612	.|ENSP00000386049:G612D;ENSP00000384672:G612D	.|ENSP00000384672:G612D	A|G	+|+	1|2	0|0	MBD5|MBD5	148943817|148943817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.955000|6.955000	0.76007|0.76007	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.488	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2	0			2:149227347
TXK	7294	broad.mit.edu	37	4	48114421	48114421	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:48114421G>A	ENST00000264316.4	-	4	368	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RNU6-868P_ENST00000517241.1_RNA|TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	95	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGTTCTCTGGGCAGAAAATCA	0.502																																						ENST00000264316.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(283-285)Ccc>Tcc		TXK tyrosine kinase							167.0	171.0	170.0					4																	48114421		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48114421G>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.283C>T	4.37:g.48114421G>A	ENSP00000264316:p.Pro95Ser	True	False		Somatic	0				TXK_ENST00000510457.1_5'UTR	p.P95S	NM_003328.2	NP_003319.2	WXS	Illumina HiSeq	Phase_I	P42681	TXK_HUMAN			4	368	-			95			SH3.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.283C>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813681	0.70912	.	.	ENSG00000074966	ENST00000264316;ENST00000506073	T;T	0.48201	0.82;0.82	5.12	5.12	0.69794	Src homology-3 domain (4);	0.083055	0.47852	D	0.000215	T	0.59101	0.2169	L	0.55743	1.74	0.80722	D	1	P;P	0.52692	0.955;0.952	P;P	0.60541	0.876;0.685	T	0.52917	-0.8511	10	0.31617	T	0.26	.	13.9414	0.64057	0.0:0.0:1.0:0.0	.	95;95	E7EQN8;P42681	.;TXK_HUMAN	S	95	ENSP00000264316:P95S;ENSP00000422798:P95S	ENSP00000264316:P95S	P	-	1	0	TXK	47809178	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.572000	0.45999	2.681000	0.91329	0.563000	0.77884	CCC		0.502	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	0	NM_003328		4:48114421
MAPT	4137	broad.mit.edu	37	17	44060673	44060673	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:44060673G>A	ENST00000571987.1	+	5	503	c.503G>A	c.(502-504)cGc>cAc	p.R168H	MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168H|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168H|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.R168H|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	168					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GAGGCCACACGCCAACCTTCG	0.697																																						ENST00000344290.5		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(502-504)cGc>cAc		microtubule-associated protein tau							13.0	15.0	14.0					17																	44060673		2196	4288	6484	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060673G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.503G>A	17.37:g.44060673G>A	ENSP00000458742:p.Arg168His	False	False		Somatic	0				MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168H|MAPT_ENST00000262410.5_Missense_Mutation_p.R168H|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.R168H|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000574436.1_Intron	p.R168H	NM_001123066.3	NP_001116538.2	WXS	Illumina HiSeq	Phase_I	P10636	TAU_HUMAN			6	825	+		Melanoma(429;0.216)	168					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.503G>A	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103437	0.20632	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10099	2.91;2.91;2.91	4.03	-7.22	0.01485	.	2.448770	0.01389	N	0.013192	T	0.02380	0.0073	N	0.00538	-1.39	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.39354	-0.9618	10	0.31617	T	0.26	4.9526	2.1491	0.03795	0.3493:0.1391:0.3754:0.1362	.	168;168	P10636-9;P10636	.;TAU_HUMAN	H	168	ENSP00000340820:R168H;ENSP00000262410:R168H;ENSP00000410838:R168H	ENSP00000262410:R168H	R	+	2	0	MAPT	41416510	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	-1.116000	0.03286	-1.431000	0.01982	-0.459000	0.05422	CGC		0.697	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	0	NM_016835		17:44060673
PLEKHH2	130271	broad.mit.edu	37	2	43958705	43958705	+	Silent	SNP	C	C	T	rs371260816		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:43958705C>T	ENST00000282406.4	+	19	3017	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	969	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTACCTTCCGAAGCCCTGC	0.328																																						ENST00000282406.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2905-2907)tcC>tcT		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2		C		1,4405	2.1+/-5.4	0,1,2202	84.0	84.0	84.0		2907	-10.6	0.7	2		84	0,8600		0,0,4300	no	coding-synonymous	PLEKHH2	NM_172069.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		969/1494	43958705	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43958705C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2907C>T	2.37:g.43958705C>T		False	False		Somatic	0					p.S969S	NM_172069.3	NP_742066.2	WXS	Illumina HiSeq	Phase_I	Q8IVE3	PKHH2_HUMAN			19	3017	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	969			MyTH4.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.2907C>T	CCDS1812.1																																																																																				0.328	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	0	NM_172069		2:43958705
TRIM68	55128	broad.mit.edu	37	11	4623634	4623634	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:4623634C>A	ENST00000300747.5	-	4	820	c.531G>T	c.(529-531)gtG>gtT	p.V177V		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	177					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCGGGTTTCCACCTGTATCT	0.463																																						ENST00000300747.5		NA																	0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(529-531)gtG>gtT		tripartite motif containing 68							58.0	58.0	58.0					11																	4623634		2201	4298	6499	SO:0001819	synonymous_variant	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4623634C>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.531G>T	11.37:g.4623634C>A		False	False		Somatic	0					p.V177V	NM_018073.6	NP_060543.5	WXS	Illumina HiSeq	Phase_I	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	820	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	177					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	ENST00000300747.5	37	c.531G>T	CCDS31356.1																																																																																				0.463	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	0	NM_018073		11:4623634
PCDHGA2	56113	broad.mit.edu	37	5	140720414	140720414	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:140720414G>A	ENST00000394576.2	+	1	1876	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	626	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)	p.V626L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCGAGGTGCGCACGGC	0.687																																						ENST00000394576.2		NA																	2	Substitution - Missense(2)	p.V626L(2)	lung(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1876-1878)Gtg>Atg									35.0	42.0	40.0					5																	140720414		2194	4286	6480	SO:0001583	missense	0							g.chr5:140720414G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1876G>A	5.37:g.140720414G>A	ENSP00000378077:p.Val626Met	False	False		Somatic	0				PCDHGA1_ENST00000517417.1_Intron	p.V626M	NM_018915.2	NP_061738.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1876	+			NA					Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1876G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	12.96	2.094710	0.36952	.	.	ENSG00000081853	ENST00000394576	T	0.55930	0.49	5.14	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.553780	0.13797	U	0.362080	T	0.64724	0.2624	M	0.65677	2.01	0.25520	N	0.987372	D;D	0.76494	0.99;0.999	D;D	0.72338	0.923;0.977	T	0.52578	-0.8557	10	0.87932	D	0	.	4.7999	0.13292	0.2293:0.1939:0.5767:0.0	.	626;626	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	626	ENSP00000378077:V626M	ENSP00000378077:V626M	V	+	1	0	PCDHGA2	140700598	1.000000	0.71417	0.998000	0.56505	0.098000	0.18820	2.136000	0.42121	1.315000	0.45114	0.485000	0.47835	GTG		0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	0	NM_018915		5:140720414
ABLIM1	3983	broad.mit.edu	37	10	116307515	116307515	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:116307515C>G	ENST00000277895.5	-	5	791	c.694G>C	c.(694-696)Gat>Cat	p.D232H	ABLIM1_ENST00000533213.2_Missense_Mutation_p.D172H|ABLIM1_ENST00000369252.4_Missense_Mutation_p.D172H	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	232	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTCTTGATATCTCTTCCGCAG	0.537																																						ENST00000533213.2		NA																	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(514-516)Gat>Cat		actin binding LIM protein 1							36.0	36.0	36.0					10																	116307515		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116307515C>G	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.694G>C	10.37:g.116307515C>G	ENSP00000277895:p.Asp232His	False	False		Somatic	0				ABLIM1_ENST00000277895.5_Missense_Mutation_p.D232H|ABLIM1_ENST00000369252.4_Missense_Mutation_p.D172H	p.D172H			WXS	Illumina HiSeq	Phase_I	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	5	815	-		Colorectal(252;0.0373)|Breast(234;0.231)	232			LIM zinc-binding 2.		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.514G>C	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.080432|5.080432	0.94050|0.94050	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895|ENST00000392955	D;D;D|.	0.87412|.	-2.25;-2.25;-2.25|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Zinc finger, LIM-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50480|0.50480	0.1618|0.1618	N|N	0.11756|0.11756	0.17|0.17	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998;0.98;0.997|.	D;D;D;D;D;D|.	0.91635|.	0.989;0.999;0.993;0.99;0.931;0.95|.	T|T	0.44205|0.44205	-0.9343|-0.9343	10|5	0.87932|.	D|.	0|.	.|.	19.7538|19.7538	0.96281|0.96281	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	156;172;172;232;172;156|.	B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;C9K0X4|.	.;.;.;ABLM1_HUMAN;.;.|.	H|D	232;172;172;172;232;156;156;156;232|140	ENSP00000358256:D172H;ENSP00000433629:D172H;ENSP00000277895:D232H|.	ENSP00000277895:D232H|.	D|E	-|-	1|3	0|2	ABLIM1|ABLIM1	116297505|116297505	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.930000|0.930000	0.56654|0.56654	7.640000|7.640000	0.83355|0.83355	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.537	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3	0			10:116307515
FAM135B	51059	broad.mit.edu	37	8	139209792	139209792	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:139209792G>A	ENST00000395297.1	-	8	960	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	264										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGATGTCCCGCATGATCACC	0.622										HNSCC(54;0.14)																												ENST00000395297.1		NA																	0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(790-792)Cgg>Tgg		family with sequence similarity 135, member B							57.0	65.0	62.0					8																	139209792		2139	4258	6397	SO:0001583	missense	51059							g.chr8:139209792G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.790C>T	8.37:g.139209792G>A	ENSP00000378710:p.Arg264Trp	True	False	HNSCC(54;0.14)	Somatic	0					p.R264W	NM_015912.3	NP_056996.2	WXS	Illumina HiSeq	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	960	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		264					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.790C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335664	0.60853	.	.	ENSG00000147724	ENST00000395297	T	0.79554	-1.28	4.74	0.945	0.19543	.	0.242007	0.40818	N	0.001010	T	0.73552	0.3601	L	0.44542	1.39	0.34180	D	0.670854	D	0.61697	0.99	P	0.44477	0.451	T	0.78529	-0.2169	10	0.72032	D	0.01	-13.6729	11.2554	0.49050	0.0:0.0:0.6066:0.3934	.	264	Q49AJ0	F135B_HUMAN	W	264	ENSP00000378710:R264W	ENSP00000276737:R264W	R	-	1	2	FAM135B	139278974	0.999000	0.42202	0.998000	0.56505	0.628000	0.37860	0.437000	0.21543	0.002000	0.14630	-0.309000	0.09137	CGG		0.622	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	0	NM_015912		8:139209792
UBR2	23304	broad.mit.edu	37	6	42620364	42620364	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:42620364C>T	ENST00000372899.1	+	25	3008	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	UBR2_ENST00000372901.1_Missense_Mutation_p.S917L|UBR2_ENST00000372883.3_Missense_Mutation_p.S421L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	917					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TATGCCTGGTCAGAGTCCATG	0.373																																						ENST00000372899.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2749-2751)tCa>tTa		ubiquitin protein ligase E3 component n-recognin 2							146.0	131.0	136.0					6																	42620364		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42620364C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2750C>T	6.37:g.42620364C>T	ENSP00000361990:p.Ser917Leu	False	False		Somatic	0				UBR2_ENST00000372883.3_Missense_Mutation_p.S421L|UBR2_ENST00000372901.1_Missense_Mutation_p.S917L	p.S917L	NM_015255.2	NP_056070.1	WXS	Illumina HiSeq	Phase_I	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		25	3008	+	Colorectal(47;0.196)		917					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2750C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751128	0.89753	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.58797	0.31;0.31;0.31	5.52	5.52	0.82312	.	0.061971	0.64402	D	0.000002	T	0.66886	0.2835	M	0.73962	2.25	0.80722	D	1	P;D	0.62365	0.95;0.991	P;P	0.56127	0.487;0.792	T	0.68284	-0.5449	10	0.49607	T	0.09	-15.9844	19.4267	0.94743	0.0:1.0:0.0:0.0	.	917;917	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	L	917;917;421	ENSP00000361990:S917L;ENSP00000361992:S917L;ENSP00000361974:S421L	ENSP00000361974:S421L	S	+	2	0	UBR2	42728342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.084000	0.76866	2.582000	0.87167	0.655000	0.94253	TCA		0.373	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	0	NM_015255		6:42620364
MYO7B	4648	broad.mit.edu	37	2	128354060	128354060	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:128354060G>A	ENST00000409816.2	+	18	2300	c.2268G>A	c.(2266-2268)gaG>gaA	p.E756E	MYO7B_ENST00000428314.1_Silent_p.E756E|MYO7B_ENST00000389524.4_Silent_p.E756E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	756	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCTGCTGGAGGTACAGAGAA	0.637																																						ENST00000389524.4		NA																	0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2266-2268)gaG>gaA		myosin VIIB							44.0	49.0	48.0					2																	128354060		1964	4165	6129	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128354060G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2268G>A	2.37:g.128354060G>A		False	False		Somatic	0				MYO7B_ENST00000409816.2_Silent_p.E756E|MYO7B_ENST00000428314.1_Silent_p.E756E	p.E756E			WXS	Illumina HiSeq	Phase_I	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	19	2321	+	Colorectal(110;0.1)		756			IQ 1.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.2268G>A	CCDS46405.1																																																																																				0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	0	XM_291001		2:128354060
NPAT	4863	broad.mit.edu	37	11	108040579	108040579	+	Splice_Site	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:108040579C>T	ENST00000278612.8	-	15	3007	c.2902G>A	c.(2902-2904)Gtt>Att	p.V968I	NPAT_ENST00000610253.1_5'Flank	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	968					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATATGAAGAACCTGGAAGAGA	0.423																																						ENST00000278612.8		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(2902-2904)Gtt>Att		nuclear protein, ataxia-telangiectasia locus							125.0	115.0	118.0					11																	108040579		1851	4092	5943	SO:0001630	splice_region_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108040579C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2902-1G>A	11.37:g.108040579C>T		False	False		Somatic	0					p.V968I	NM_002519.2	NP_002510.2	WXS	Illumina HiSeq	Phase_I	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	15	3007	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	968					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Splice_Site	SNP	ENST00000278612.8	37	c.2902G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568083	0.45798	.	.	ENSG00000149308	ENST00000278612	T	0.04758	3.56	5.39	4.48	0.54585	.	0.154045	0.43747	D	0.000523	T	0.07007	0.0178	M	0.66939	2.045	0.44890	D	0.997906	B	0.19583	0.037	B	0.19148	0.024	T	0.13791	-1.0496	10	0.33141	T	0.24	-6.2259	8.9418	0.35733	0.0:0.7759:0.0:0.2241	.	968	Q14207	NPAT_HUMAN	I	968	ENSP00000278612:V968I	ENSP00000278612:V968I	V	-	1	0	NPAT	107545789	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.857000	0.39399	1.408000	0.46895	-0.237000	0.12165	GTT		0.423	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	0	NM_002519	Missense_Mutation	11:108040579
TECTA	7007	broad.mit.edu	37	11	121023690	121023690	+	Silent	SNP	C	C	T	rs371771729		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:121023690C>T	ENST00000392793.1	+	13	4477	c.4206C>T	c.(4204-4206)tgC>tgT	p.C1402C	TECTA_ENST00000264037.2_Silent_p.C1402C			O75443	TECTA_HUMAN	tectorin alpha	1402	TIL 3.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCACTACTGCGTGGAGGGCT	0.622																																						ENST00000392793.1		NA																TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4204-4206)tgC>tgT		tectorin alpha		C		0,4406		0,0,2203	44.0	42.0	43.0		4206	-1.5	1.0	11		43	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TECTA	NM_005422.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1402/2156	121023690	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121023690C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4206C>T	11.37:g.121023690C>T		False	False		Somatic	0				TECTA_ENST00000264037.2_Silent_p.C1402C	p.C1402C			WXS	Illumina HiSeq	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4477	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1402			TIL 3.			Silent	SNP	ENST00000392793.1	37	c.4206C>T	CCDS8434.1																																																																																				0.622	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	0	NM_005422		11:121023690
MYO9B	4650	broad.mit.edu	37	19	17313080	17313080	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:17313080G>A	ENST00000594824.1	+	28	4951	c.4804G>A	c.(4804-4806)Ggc>Agc	p.G1602S	MYO9B_ENST00000595618.1_Missense_Mutation_p.G1602S|MYO9B_ENST00000397274.2_Missense_Mutation_p.G1602S			Q13459	MYO9B_HUMAN	myosin IXB	1602	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTTCACCCGTGGCTACACCAA	0.597																																						ENST00000595618.1		NA																	0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4804-4806)Ggc>Agc		myosin IXB							31.0	34.0	33.0					19																	17313080		2112	4221	6333	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17313080G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4804G>A	19.37:g.17313080G>A	ENSP00000471367:p.Gly1602Ser	False	False		Somatic	0				MYO9B_ENST00000594824.1_Missense_Mutation_p.G1602S|MYO9B_ENST00000397274.2_Missense_Mutation_p.G1602S	p.G1602S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	WXS	Illumina HiSeq	Phase_I	Q13459	MYO9B_HUMAN			28	4956	+			1602			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4804G>A		.	.	.	.	.	.	.	.	.	.	G	10.06	1.246218	0.22796	.	.	ENSG00000099331	ENST00000397274	D	0.84070	-1.8	4.51	2.29	0.28610	.	0.243175	0.28859	N	0.013909	T	0.69342	0.3100	L	0.35854	1.095	0.39346	D	0.965669	B;B;B;B	0.29341	0.131;0.242;0.131;0.156	B;B;B;B	0.28784	0.031;0.094;0.031;0.043	T	0.56986	-0.7888	10	0.08837	T	0.75	.	7.8424	0.29406	0.0931:0.1643:0.7426:0.0	.	1602;1602;1602;1608	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	S	1602	ENSP00000380444:G1602S	ENSP00000380444:G1602S	G	+	1	0	MYO9B	17174080	0.896000	0.30565	0.042000	0.18584	0.868000	0.49771	1.890000	0.39728	0.290000	0.22444	0.313000	0.20887	GGC		0.597	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	0			19:17313080
MANEAL	149175	broad.mit.edu	37	1	38260133	38260133	+	Silent	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:38260133C>A	ENST00000373045.6	+	1	660	c.279C>A	c.(277-279)ccC>ccA	p.P93P	MANEAL_ENST00000329006.5_5'Flank|MANEAL_ENST00000397631.3_Silent_p.P93P|MANEAL_ENST00000525897.1_5'Flank	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	93	Pro-rich.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCCGAGCCCGCCCCCGTGC	0.791																																						ENST00000373045.6		NA																	0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(277-279)ccC>ccA		mannosidase, endo-alpha-like							4.0	4.0	4.0					1																	38260133		1268	3044	4312	SO:0001819	synonymous_variant	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38260133C>A	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.279C>A	1.37:g.38260133C>A		True	False		Somatic	0				MANEAL_ENST00000397631.3_Silent_p.P93P	p.P93P	NM_001113482.1	NP_001106954.1	WXS	Illumina HiSeq	Phase_I	Q5VSG8	MANEL_HUMAN			1	660	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	93			Pro-rich.		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Silent	SNP	ENST00000373045.6	37	c.279C>A	CCDS44110.1																																																																																				0.791	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	0	NM_152496		1:38260133
NWD1	284434	broad.mit.edu	37	19	16860012	16860012	+	Missense_Mutation	SNP	G	G	A	rs142661674		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:16860012G>A	ENST00000552788.1	+	4	559	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	NWD1_ENST00000379808.3_Missense_Mutation_p.V187I|NWD1_ENST00000549814.1_Missense_Mutation_p.V187I|NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.V52I|NWD1_ENST00000524140.2_Missense_Mutation_p.V187I			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	187							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGAGCCACCGTCTTCCTTAG	0.582																																						ENST00000524140.2		NA																	0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(559-561)Gtc>Atc		NACHT and WD repeat domain containing 1		G	ILE/VAL	1,4405		0,1,2202	80.0	62.0	68.0		559	-1.6	0.0	19	dbSNP_134	68	0,8600		0,0,4300	no	missense	NWD1	NM_001007525.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	187/1433	16860012	1,13005	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860012G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.559G>A	19.37:g.16860012G>A	ENSP00000447224:p.Val187Ile	False	False		Somatic	0				NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.V52I|NWD1_ENST00000549814.1_Missense_Mutation_p.V187I|NWD1_ENST00000379808.3_Missense_Mutation_p.V187I|NWD1_ENST00000552788.1_Missense_Mutation_p.V187I	p.V187I	NM_001007525.3	NP_001007526.3	WXS	Illumina HiSeq	Phase_I	Q149M9	NWD1_HUMAN			6	977	+			187					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.559G>A		.	.	.	.	.	.	.	.	.	.	N	0.072	-1.200132	0.01581	2.27E-4	0.0	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000552788;ENST00000339803	T;T;T;T;T	0.56941	1.77;1.77;1.77;1.77;0.43	4.45	-1.62	0.08372	.	0.464471	0.20800	N	0.085444	T	0.32406	0.0828	L	0.42686	1.345	0.22066	N	0.999385	B;B	0.18013	0.025;0.006	B;B	0.12837	0.008;0.003	T	0.34378	-0.9831	10	0.05351	T	0.99	-15.3841	7.6641	0.28421	0.4955:0.0:0.5045:0.0	.	187;52	Q149M9-3;C9J2Y8	.;.	I	52;187;187;187;187;52	ENSP00000428579:V187I;ENSP00000447548:V187I;ENSP00000369136:V187I;ENSP00000447224:V187I;ENSP00000340159:V52I	ENSP00000340159:V52I	V	+	1	0	NWD1	16721012	0.001000	0.12720	0.004000	0.12327	0.013000	0.08279	-0.267000	0.08619	0.027000	0.15297	-0.497000	0.04613	GTC		0.582	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	0	NM_001007525		19:16860012
FBXO44	93611	broad.mit.edu	37	1	11716084	11716084	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:11716084C>T	ENST00000251547.5	+	2	274	c.192C>T	c.(190-192)ccC>ccT	p.P64P	FBXO44_ENST00000376762.4_Silent_p.P64P|FBXO44_ENST00000376770.1_Silent_p.P64P|FBXO2_ENST00000475961.1_5'Flank|FBXO2_ENST00000354287.4_5'Flank|FBXO44_ENST00000251546.4_Silent_p.P64P|FBXO44_ENST00000376768.1_Silent_p.P64P|FBXO44_ENST00000376760.1_Silent_p.P64P	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	64						SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACCAGCCCGTGGCCGACT	0.627																																						ENST00000376770.1		NA																	0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(190-192)ccC>ccT		F-box protein 44							93.0	99.0	97.0					1																	11716084		2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11716084C>T	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.192C>T	1.37:g.11716084C>T		True	False		Somatic	0				FBXO44_ENST00000376768.1_Silent_p.P64P|FBXO44_ENST00000251547.5_Silent_p.P64P|FBXO44_ENST00000251546.4_Silent_p.P64P|FBXO44_ENST00000376760.1_Silent_p.P64P|FBXO44_ENST00000376762.4_Silent_p.P64P	p.P64P	NM_001014765.1	NP_001014765.1	WXS	Illumina HiSeq	Phase_I	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	3	690	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	64					B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Silent	SNP	ENST00000251547.5	37	c.192C>T	CCDS132.1																																																																																				0.627	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	0	NM_183412		1:11716084
ARID1A	8289	broad.mit.edu	37	1	27099947	27099947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:27099947C>T	ENST00000324856.7	+	15	4197	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1276*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R893*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1276					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R1276*(7)|p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGGGACCACGACAGCACTA	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7		NA		Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	10	Substitution - Nonsense(7)|Deletion - Frameshift(2)|Complex(1)	p.R1276*(7)|p.G1274fs*7(2)|p.M1273fs(1)	haematopoietic_and_lymphoid_tissue(3)|liver(3)|endometrium(2)|pancreas(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3826-3828)Cga>Tga		AT rich interactive domain 1A (SWI-like)							73.0	65.0	67.0					1																	27099947		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099947C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3826C>T	1.37:g.27099947C>T	ENSP00000320485:p.Arg1276*	False	False		Somatic	0				ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1276*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R893*|ARID1A_ENST00000540690.1_5'UTR	p.R1276*	NM_006015.4	NP_006006.3	WXS	Illumina HiSeq	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4197	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1276					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3826C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.564494|8.564494	0.98866|0.98866	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	4.72|4.72	3.74|3.74	0.42951|0.42951	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68650	.|0.3024	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66893	.|-0.5808	.|4	0.02654|.	T|.	1|.	-1.2857|-1.2857	14.0159|14.0159	0.64523|0.64523	0.227:0.773:0.0:0.0|0.227:0.773:0.0:0.0	.|.	.|.	.|.	.|.	X|M	1276;1276;893|172	.|.	ENSP00000320485:R1276X|.	R|T	+|+	1|2	2|0	ARID1A|ARID1A	26972534|26972534	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.516000|1.516000	0.35856|0.35856	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	0	NM_139135		1:27099947
DMXL2	23312	broad.mit.edu	37	15	51791633	51791633	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:51791633C>T	ENST00000251076.5	-	18	4075	c.3788G>A	c.(3787-3789)gGa>gAa	p.G1263E	DMXL2_ENST00000543779.2_Missense_Mutation_p.G1263E|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1263						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAATCCATTCCTACCACCAA	0.423																																						ENST00000251076.5		NA																	0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(3787-3789)gGa>gAa		Dmx-like 2							187.0	175.0	179.0					15																	51791633		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791633C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3788G>A	15.37:g.51791633C>T	ENSP00000251076:p.Gly1263Glu	False	False		Somatic	0				DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1263E	p.G1263E	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	WXS	Illumina HiSeq	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	4075	-			1263					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3788G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146050	0.77888	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.42131	0.98;0.98	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71467	-0.4584	10	0.87932	D	0	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	1263;1263	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	E	1263	ENSP00000251076:G1263E;ENSP00000441858:G1263E	ENSP00000251076:G1263E	G	-	2	0	DMXL2	49578925	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.461000	0.80834	2.588000	0.87417	0.591000	0.81541	GGA		0.423	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	0	NM_015263		15:51791633
SLC1A3	6507	broad.mit.edu	37	5	36608640	36608640	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:36608640G>A	ENST00000265113.4	+	2	591	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SLC1A3_ENST00000381918.3_Missense_Mutation_p.E39K|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	39					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATTACAAAGGAGGATGTTAA	0.453																																						ENST00000265113.4		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(115-117)Gag>Aag		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)						185.0	185.0	185.0					5																	36608640		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608640G>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.115G>A	5.37:g.36608640G>A	ENSP00000265113:p.Glu39Lys	False	False		Somatic	0				SLC1A3_ENST00000381918.3_Missense_Mutation_p.E39K|SLC1A3_ENST00000506725.1_3'UTR	p.E39K	NM_004172.4	NP_004163.3	WXS	Illumina HiSeq	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	591	+	all_lung(31;0.000245)		39					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.115G>A	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517899	0.64634	.	.	ENSG00000079215	ENST00000265113;ENST00000513903;ENST00000427100;ENST00000416645;ENST00000505202;ENST00000513646;ENST00000381918	T;T;T;T;T	0.55588	0.51;1.91;1.91;1.91;0.51	5.69	5.69	0.88448	.	0.244001	0.42548	D	0.000695	T	0.35711	0.0941	N	0.08118	0	0.39293	D	0.964762	B;B	0.12013	0.002;0.005	B;B	0.11329	0.003;0.006	T	0.19745	-1.0296	10	0.18710	T	0.47	-22.2818	19.812	0.96551	0.0:0.0:1.0:0.0	.	39;39	Q4JCQ8;P43003	.;EAA1_HUMAN	K	39	ENSP00000265113:E39K;ENSP00000427203:E39K;ENSP00000424986:E39K;ENSP00000420992:E39K;ENSP00000371343:E39K	ENSP00000265113:E39K	E	+	1	0	SLC1A3	36644397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.777000	0.68931	2.685000	0.91497	0.655000	0.94253	GAG		0.453	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	0	NM_004172		5:36608640
HEATR1	55127	broad.mit.edu	37	1	236751303	236751303	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:236751303G>A	ENST00000366582.3	-	13	1685	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A524V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	524					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACCTAATCGGGCTAAAACAGC	0.328																																						ENST00000366582.3		NA																	0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(1570-1572)gCc>gTc		HEAT repeat containing 1							121.0	114.0	117.0					1																	236751303		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236751303G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1571C>T	1.37:g.236751303G>A	ENSP00000355541:p.Ala524Val	True	False		Somatic	0				HEATR1_ENST00000366581.2_Missense_Mutation_p.A524V	p.A524V	NM_018072.5	NP_060542.4	WXS	Illumina HiSeq	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		13	1685	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	524					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1571C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992337	0.35131	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66099	-0.19;-0.18	5.8	3.56	0.40772	Armadillo-like helical (1);Armadillo-type fold (1);	0.610489	0.18337	N	0.144320	T	0.45256	0.1333	N	0.22421	0.69	0.21782	N	0.999549	B	0.18968	0.032	B	0.21546	0.035	T	0.32214	-0.9915	10	0.38643	T	0.18	.	8.0272	0.30444	0.0747:0.1198:0.6826:0.1228	.	524	Q9H583	HEAT1_HUMAN	V	524	ENSP00000355541:A524V;ENSP00000355540:A524V	ENSP00000355540:A524V	A	-	2	0	HEATR1	234817926	0.897000	0.30589	0.999000	0.59377	0.873000	0.50193	1.272000	0.33109	1.425000	0.47237	0.650000	0.86243	GCC		0.328	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	0	XM_375853		1:236751303
ACTL9	284382	broad.mit.edu	37	19	8808381	8808381	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:8808381G>A	ENST00000324436.3	-	1	791	c.671C>T	c.(670-672)gCg>gTg	p.A224V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	224						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GTGGTTGCCCGCCAGGTCCAG	0.662																																						ENST00000324436.3		NA																	0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(670-672)gCg>gTg		actin-like 9							41.0	40.0	41.0					19																	8808381		2203	4299	6502	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808381G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.671C>T	19.37:g.8808381G>A	ENSP00000316674:p.Ala224Val	True	False		Somatic	0					p.A224V	NM_178525.3	NP_848620.3	WXS	Illumina HiSeq	Phase_I	Q8TC94	ACTL9_HUMAN			1	791	-			224					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.671C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832211	0.71258	.	.	ENSG00000181786	ENST00000324436	T	0.14640	2.49	4.55	1.18	0.20946	.	0.301968	0.23206	N	0.050737	T	0.23965	0.0580	H	0.97491	4.015	0.38031	D	0.935152	P	0.51351	0.944	B	0.37091	0.241	T	0.37753	-0.9692	10	0.87932	D	0	.	6.2393	0.20780	0.1648:0.0:0.686:0.1493	.	224	Q8TC94	ACTL9_HUMAN	V	224	ENSP00000316674:A224V	ENSP00000316674:A224V	A	-	2	0	ACTL9	8669381	1.000000	0.71417	0.222000	0.23844	0.723000	0.41478	5.869000	0.69613	0.251000	0.21505	0.462000	0.41574	GCG		0.662	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	0	NM_178525		19:8808381
CYP2W1	54905	broad.mit.edu	37	7	1026862	1026862	+	Silent	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:1026862C>T	ENST00000308919.7	+	6	952	c.939C>T	c.(937-939)ggC>ggT	p.G313G	CYP2W1_ENST00000340150.6_Silent_p.G257G	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	313					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TTCTGATGGGCCGGCACCCGG	0.716																																						ENST00000340150.6		NA																	0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(769-771)ggC>ggT		cytochrome P450, family 2, subfamily W, polypeptide 1							9.0	11.0	11.0					7																	1026862		2104	4141	6245	SO:0001819	synonymous_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1026862C>T	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.939C>T	7.37:g.1026862C>T		True	False		Somatic	0				CYP2W1_ENST00000308919.7_Silent_p.G313G	p.G257G			WXS	Illumina HiSeq	Phase_I	Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	6	793	+		Ovarian(82;0.0112)	313						Silent	SNP	ENST00000308919.7	37	c.771C>T	CCDS5319.2																																																																																				0.716	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	0	NM_017781		7:1026862
RYR1	6261	broad.mit.edu	37	19	38976774	38976774	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:38976774C>T	ENST00000359596.3	+	34	5479	c.5479C>T	c.(5479-5481)Cgc>Tgc	p.R1827C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1827C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1827C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1827	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCAGCACGCTCGCGACCCCGT	0.692																																						ENST00000355481.4		NA																	0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5479-5481)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						81.0	79.0	80.0					19																	38976774		2197	4290	6487	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976774C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5479C>T	19.37:g.38976774C>T	ENSP00000352608:p.Arg1827Cys	False	False		Somatic	0				RYR1_ENST00000359596.3_Missense_Mutation_p.R1827C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1827C	p.R1827C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina HiSeq	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5610	+	all_cancers(60;7.91e-06)		1827			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5479C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897596	0.33535	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75821	-0.97;-0.97;-0.97	3.7	1.45	0.22620	.	0.000000	0.56097	U	0.000022	D	0.83257	0.5215	M	0.84082	2.675	0.45390	D	0.998377	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.80471	-0.1368	10	0.87932	D	0	.	5.8485	0.18679	0.4699:0.4345:0.0:0.0956	.	1827;1827	P21817-2;P21817	.;RYR1_HUMAN	C	1827	ENSP00000352608:R1827C;ENSP00000347667:R1827C;ENSP00000354254:R1827C	ENSP00000347667:R1827C	R	+	1	0	RYR1	43668614	0.042000	0.20092	0.218000	0.23776	0.839000	0.47603	0.423000	0.21313	0.215000	0.20761	-0.237000	0.12165	CGC		0.692	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0			19:38976774
QARS	5859	broad.mit.edu	37	3	49137511	49137511	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr3:49137511C>T	ENST00000306125.6	-	14	1515	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	QARS_ENST00000414533.1_Missense_Mutation_p.G382D|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	393					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAAAACTTGCCCTTGCGCAT	0.552																																						ENST00000306125.6		NA																	0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1177-1179)gGc>gAc		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						146.0	134.0	138.0					3																	49137511		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49137511C>T	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1178G>A	3.37:g.49137511C>T	ENSP00000307567:p.Gly393Asp	True	False		Somatic	0				QARS_ENST00000414533.1_Missense_Mutation_p.G382D	p.G393D			WXS	Illumina HiSeq	Phase_I	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	14	1515	-			393					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1178G>A	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839609	0.91117	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.25414	1.8;1.8	5.98	5.98	0.97165	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81055	-0.1106	10	0.87932	D	0	-20.433	20.0397	0.97574	0.0:1.0:0.0:0.0	.	382;393	B4DWJ2;P47897	.;SYQ_HUMAN	D	393;382	ENSP00000307567:G393D;ENSP00000390015:G382D	ENSP00000307567:G393D	G	-	2	0	QARS	49112515	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.316000	0.79007	2.833000	0.97629	0.655000	0.94253	GGC		0.552	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	0	NM_005051		3:49137511
SYNE1	23345	broad.mit.edu	37	6	152527344	152527344	+	Missense_Mutation	SNP	G	G	A	rs202017153	byFrequency	TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:152527344G>A	ENST00000367255.5	-	126	23579	c.22978C>T	c.(22978-22980)Cgg>Tgg	p.R7660W	SYNE1_ENST00000448038.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2184W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7272W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7660W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7589W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7660					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCCAGCCGCATGCTGGCT	0.478										HNSCC(10;0.0054)			G|||	2	0.000399361	0.0	0.0	5008	,	,		17907	0.002		0.0	False		,,,				2504	0.0					ENST00000367255.5		NA																	0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22978-22980)Cgg>Tgg		spectrin repeat containing, nuclear envelope 1							75.0	73.0	74.0					6																	152527344		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152527344G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22978C>T	6.37:g.152527344G>A	ENSP00000356224:p.Arg7660Trp	False	False	HNSCC(10;0.0054)	Somatic	0				SYNE1_ENST00000341594.5_Missense_Mutation_p.R7272W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2184W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7660W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7589W	p.R7660W	NM_182961.3	NP_892006.3	WXS	Illumina HiSeq	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	126	23579	-		Ovarian(120;0.0955)	7660					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22978C>T	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.46	1.645098	0.29246	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.51	-2.62	0.06152	.	0.910031	0.09366	N	0.811992	T	0.25232	0.0613	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.67145	0.994;0.994;0.996;0.994	P;P;P;P	0.55824	0.487;0.487;0.785;0.614	T	0.10337	-1.0634	10	0.59425	D	0.04	.	4.8395	0.13483	0.3197:0.0:0.3036:0.3767	.	7660;7660;7589;7589	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	W	7660;306;7589;7660;7589;7272;2184;582	ENSP00000356224:R7660W;ENSP00000356226:R306W;ENSP00000396024:R7589W;ENSP00000265368:R7660W;ENSP00000390975:R7589W;ENSP00000341887:R7272W;ENSP00000349276:R2184W;ENSP00000356220:R582W	ENSP00000265368:R7660W	R	-	1	2	SYNE1	152569037	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	0.089000	0.15002	-0.469000	0.06911	-0.293000	0.09583	CGG		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	NM_182961		6:152527344
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	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>gAt		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>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	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>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	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
IQCD	115811	broad.mit.edu	37	12	113645289	113645289	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:113645289G>A	ENST00000416617.2	-	2	873	c.683C>T	c.(682-684)aCt>aTt	p.T228I	IQCD_ENST00000546692.1_Missense_Mutation_p.T228I|IQCD_ENST00000299732.2_Missense_Mutation_p.T228I			Q96DY2	IQCD_HUMAN	IQ motif containing D	228										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTTTTCAAGAGTATCAATGAT	0.378																																						ENST00000546692.1		NA																	0				endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(682-684)aCt>aTt		IQ motif containing D							101.0	99.0	100.0					12																	113645289		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113645289G>A	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.683C>T	12.37:g.113645289G>A	ENSP00000400669:p.Thr228Ile	False	False		Somatic	0				IQCD_ENST00000299732.2_Missense_Mutation_p.T228I|IQCD_ENST00000416617.2_Missense_Mutation_p.T228I	p.T228I			WXS	Illumina HiSeq	Phase_I	Q96DY2	IQCD_HUMAN			2	1056	-			228					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.683C>T		.	.	.	.	.	.	.	.	.	.	G	9.256	1.041929	0.19748	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.23147	2.85;2.85;1.92	5.25	-1.09	0.09904	.	1.285360	0.05512	N	0.560377	T	0.22704	0.0548	L	0.56769	1.78	0.09310	N	1	B;B	0.21147	0.052;0.002	B;B	0.15052	0.012;0.007	T	0.33059	-0.9883	10	0.46703	T	0.11	2.6825	2.9086	0.05730	0.1569:0.0995:0.418:0.3256	.	228;228	F8VZV9;Q96DY2-2	.;.	I	228	ENSP00000299732:T228I;ENSP00000400669:T228I;ENSP00000446623:T228I	ENSP00000299732:T228I	T	-	2	0	IQCD	112129672	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.233000	0.17911	-0.073000	0.12842	0.563000	0.77884	ACT		0.378	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	0	NM_138451		12:113645289
VWA8	23078	broad.mit.edu	37	13	42273275	42273275	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr13:42273275G>A	ENST00000379310.3	-	29	3564	c.3496C>T	c.(3496-3498)Cac>Tac	p.H1166Y		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1166						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ACAAAAGGGTGCCAAACGCCA	0.473																																						ENST00000379310.3		NA																	0					NA						c.(3496-3498)Cac>Tac		von Willebrand factor A domain containing 8							103.0	105.0	104.0					13																	42273275		1936	4122	6058	SO:0001583	missense	23078							g.chr13:42273275G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3496C>T	13.37:g.42273275G>A	ENSP00000368612:p.His1166Tyr	False	False		Somatic	0					p.H1166Y	NM_015058.1	NP_055873.1	WXS	Illumina HiSeq	Phase_I					29	3564	-			NA					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3496C>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531905	0.27387	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.09723	2.95	5.39	5.39	0.77823	.	0.205355	0.43110	D	0.000619	T	0.14657	0.0354	L	0.54323	1.7	0.80722	D	1	B	0.24533	0.105	B	0.19666	0.026	T	0.03662	-1.1015	10	0.32370	T	0.25	.	19.5164	0.95167	0.0:0.0:1.0:0.0	.	1166	A3KMH1	K0564_HUMAN	Y	1070;1166	ENSP00000368612:H1166Y	ENSP00000251030:H1070Y	H	-	1	0	KIAA0564	41171275	1.000000	0.71417	0.999000	0.59377	0.373000	0.29922	7.067000	0.76741	2.682000	0.91365	0.585000	0.79938	CAC		0.473	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	0	NM_015058		13:42273275
DLL4	54567	broad.mit.edu	37	15	41226899	41226899	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:41226899A>T	ENST00000249749.5	+	7	1280	c.1004A>T	c.(1003-1005)aAt>aTt	p.N335I		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	335	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCTGTCGCAATGGAGGCAGC	0.592																																						ENST00000249749.5		NA																	0				breast(3)|large_intestine(1)	4						c.(1003-1005)aAt>aTt		delta-like 4 (Drosophila)							60.0	64.0	63.0					15																	41226899		2200	4296	6496	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41226899A>T	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1004A>T	15.37:g.41226899A>T	ENSP00000249749:p.Asn335Ile	False	False		Somatic	0					p.N335I	NM_019074.3	NP_061947.1	WXS	Illumina HiSeq	Phase_I	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	7	1280	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	335			EGF-like 4.		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1004A>T	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830554	0.91036	.	.	ENSG00000128917	ENST00000249749	D	0.95069	-3.6	5.97	5.97	0.96955	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99751	1.1018	10	0.87932	D	0	.	16.4504	0.83984	1.0:0.0:0.0:0.0	.	335	Q9NR61	DLL4_HUMAN	I	335	ENSP00000249749:N335I	ENSP00000249749:N335I	N	+	2	0	DLL4	39014191	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	8.962000	0.93254	2.288000	0.76882	0.533000	0.62120	AAT		0.592	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1	0			15:41226899
ARID1A	8289	broad.mit.edu	37	1	27099479	27099479	+	Splice_Site	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:27099479G>A	ENST00000324856.7	+	14	4086		c.e14+1		ARID1A_ENST00000540690.1_Splice_Site|ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGAGGAAAGGTGACTGATCT	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7		NA		Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.e14+1		AT rich interactive domain 1A (SWI-like)							94.0	103.0	100.0					1																	27099479		2203	4300	6503	SO:0001630	splice_region_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099479G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3715+1G>A	1.37:g.27099479G>A		False	False		Somatic	0				ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site		NM_006015.4	NP_006006.3	WXS	Illumina HiSeq	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	14	4086	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	NA					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Splice_Site	SNP	ENST00000324856.7	37		CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619732	0.66787	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000430799	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2435	0.93893	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID1A	26972066	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.263000	0.95617	2.791000	0.96007	0.655000	0.94253	.		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	0	NM_139135	Intron	1:27099479
UNC13C	440279	broad.mit.edu	37	15	54306714	54306714	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:54306714G>C	ENST00000260323.11	+	1	1614	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q538H|UNC13C_ENST00000545554.1_Missense_Mutation_p.Q538H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	538					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCACTCACAGAGTGATTTTT	0.368																																						ENST00000545554.1		NA																	0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1612-1614)caG>caC		unc-13 homolog C (C. elegans)							58.0	57.0	58.0					15																	54306714		1850	4105	5955	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306714G>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1614G>C	15.37:g.54306714G>C	ENSP00000260323:p.Gln538His	False	False		Somatic	0				UNC13C_ENST00000537900.1_Missense_Mutation_p.Q538H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q538H	p.Q538H			WXS	Illumina HiSeq	Phase_I	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1614	+			538					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1614G>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267447	0.40095	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83506	-1.73;-1.73;-1.73	5.01	4.02	0.46733	.	.	.	.	.	D	0.83510	0.5270	L	0.27053	0.805	0.39140	D	0.962024	D	0.67145	0.996	D	0.75484	0.986	D	0.84308	0.0509	9	0.87932	D	0	.	9.0517	0.36380	0.1739:0.0:0.8261:0.0	.	538	Q8NB66	UN13C_HUMAN	H	538	ENSP00000260323:Q538H;ENSP00000438156:Q538H;ENSP00000442569:Q538H	ENSP00000260323:Q538H	Q	+	3	2	UNC13C	52094006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.057000	0.41365	2.608000	0.88229	0.655000	0.94253	CAG		0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	0	NM_173166		15:54306714
STK16	8576	broad.mit.edu	37	2	220113194	220113194	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:220113194G>A	ENST00000409638.3	+	8	1003	c.831G>A	c.(829-831)ccG>ccA	p.P277P	GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409743.1_Silent_p.P245P|STK16_ENST00000409260.1_Silent_p.P322P|TUBA4A_ENST00000498660.1_5'Flank|STK16_ENST00000409516.3_Silent_p.P159P|GLB1L_ENST00000295759.7_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> L (in dbSNP:rs35454203). {ECO:0000269|PubMed:17344846}.		cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGGACCCGCATCAGCGTC	0.567																																					Pancreas(34;887 922 17165 36961 39622)	ENST00000409638.3		NA																	0				skin(1)	1						c.(829-831)ccG>ccA		serine/threonine kinase 16							106.0	113.0	111.0					2																	220113194		2073	4207	6280	SO:0001819	synonymous_variant	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220113194G>A	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.831G>A	2.37:g.220113194G>A		True	False		Somatic	0				STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409743.1_Silent_p.P245P|STK16_ENST00000409260.1_Silent_p.P322P|STK16_ENST00000409516.3_Silent_p.P159P	p.P277P	NM_001008910.2	NP_001008910.1	WXS	Illumina HiSeq	Phase_I	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1003	+		Renal(207;0.0474)	277		P -> L (in dbSNP:rs35454203).	Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Silent	SNP	ENST00000409638.3	37	c.831G>A	CCDS42822.1																																																																																				0.567	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1	0			2:220113194
MTNR1B	4544	broad.mit.edu	37	11	92715454	92715454	+	Silent	SNP	G	G	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:92715454G>A	ENST00000257068.2	+	2	1071	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	355					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TCATTGGTGTGCAGCACCAGG	0.582																																						ENST00000257068.2		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(1063-1065)gtG>gtA		melatonin receptor 1B	Ramelteon(DB00980)						41.0	44.0	43.0					11																	92715454		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715454G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1065G>A	11.37:g.92715454G>A		False	False		Somatic	0					p.V355V	NM_005959.3	NP_005950.1	WXS	Illumina HiSeq	Phase_I	P49286	MTR1B_HUMAN			2	1071	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	355						Silent	SNP	ENST00000257068.2	37	c.1065G>A	CCDS8290.1																																																																																				0.582	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1	0			11:92715454
ANO6	196527	broad.mit.edu	37	12	45815050	45815050	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:45815050C>A	ENST00000320560.8	+	18	2616	c.2414C>A	c.(2413-2415)aCa>aAa	p.T805K	ANO6_ENST00000423947.3_Missense_Mutation_p.T826K|ANO6_ENST00000425752.2_Missense_Mutation_p.T805K|ANO6_ENST00000435642.1_Missense_Mutation_p.T805K|ANO6_ENST00000441606.2_Missense_Mutation_p.T787K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	805					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACCATACCACATGCAGGCAA	0.373																																						ENST00000320560.8		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2413-2415)aCa>aAa		anoctamin 6							78.0	71.0	73.0					12																	45815050		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45815050C>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2414C>A	12.37:g.45815050C>A	ENSP00000320087:p.Thr805Lys	False	False		Somatic	0				ANO6_ENST00000423947.3_Missense_Mutation_p.T826K|ANO6_ENST00000425752.2_Missense_Mutation_p.T805K|ANO6_ENST00000435642.1_Missense_Mutation_p.T805K|ANO6_ENST00000441606.2_Missense_Mutation_p.T787K	p.T805K	NM_001025356.2	NP_001020527.2	WXS	Illumina HiSeq	Phase_I	Q4KMQ2	ANO6_HUMAN			18	2616	+			805					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2414C>A	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001985	0.54254	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.71461	-0.57;-0.44;-0.57;-0.44;-0.44	5.05	3.2	0.36748	.	0.224065	0.44902	D	0.000417	T	0.71567	0.3355	M	0.74881	2.28	0.40730	D	0.982733	P;P;P;B	0.42248	0.573;0.774;0.551;0.317	P;P;B;B	0.45794	0.493;0.493;0.325;0.118	T	0.70274	-0.4917	9	.	.	.	.	8.7333	0.34512	0.0:0.7605:0.0:0.2395	.	787;826;805;805	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	K	805;826;805;805;787	ENSP00000391417:T805K;ENSP00000409126:T826K;ENSP00000413840:T805K;ENSP00000320087:T805K;ENSP00000413137:T787K	.	T	+	2	0	ANO6	44101317	0.950000	0.32346	0.006000	0.13384	0.422000	0.31414	2.368000	0.44222	0.767000	0.33267	0.650000	0.86243	ACA		0.373	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	0	XM_113743		12:45815050
DDX59	83479	broad.mit.edu	37	1	200613582	200613582	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:200613582T>C	ENST00000331314.6	-	8	1873	c.1660A>G	c.(1660-1662)Aaa>Gaa	p.K554E	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	554	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAGAGTCTTTTTGAATTATTA	0.363																																						ENST00000331314.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1660-1662)Aaa>Gaa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							124.0	128.0	126.0					1																	200613582		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200613582T>C	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1660A>G	1.37:g.200613582T>C	ENSP00000330460:p.Lys554Glu	True	False		Somatic	0				DDX59_ENST00000367348.3_Intron|DDX59_ENST00000447706.2_Intron	p.K554E	NM_001031725.4	NP_001026895.2	WXS	Illumina HiSeq	Phase_I	Q5T1V6	DDX59_HUMAN			8	1873	-			554			Helicase C-terminal.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1660A>G	CCDS30964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.77|19.77	3.888564|3.888564	0.72524|0.72524	.|.	.|.	ENSG00000118197|ENSG00000118197	ENST00000367346;ENST00000331314;ENST00000433235|ENST00000429498	D;T|.	0.90676|.	-2.71;3.6|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Helicase, C-terminal (1);|.	0.050113|0.050113	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.50871|0.50871	0.1641|0.1641	L|L	0.28014|0.28014	0.82|0.82	0.80722|0.80722	D|D	1|1	P|.	0.51791|.	0.948|.	P|.	0.48815|.	0.591|.	T|T	0.48127|0.48127	-0.9062|-0.9062	10|6	0.07813|.	T|.	0.8|.	-28.0703|-28.0703	11.583|11.583	0.50902|0.50902	0.0:0.0:0.1489:0.851|0.0:0.0:0.1489:0.851	.|.	554|.	Q5T1V6|.	DDX59_HUMAN|.	E|R	140;554;197|131	ENSP00000330460:K554E;ENSP00000409954:K197E|.	ENSP00000330460:K554E|.	K|K	-|-	1|2	0|0	DDX59|DDX59	198880205|198880205	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.998000|0.998000	0.95712|0.95712	5.995000|5.995000	0.70631|0.70631	2.073000|2.073000	0.62155|0.62155	0.523000|0.523000	0.50628|0.50628	AAA|AAA		0.363	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	0	NM_001031725.4		1:200613582
CYB5R1	51706	broad.mit.edu	37	1	202935980	202935980	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:202935980A>T	ENST00000367249.4	-	2	136	c.62T>A	c.(61-63)cTc>cAc	p.L21H	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	21					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AGCCAGGCCGAGCAGAGTGAC	0.657																																						ENST00000367249.4		NA																	0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(61-63)cTc>cAc		cytochrome b5 reductase 1							26.0	30.0	29.0					1																	202935980		2203	4300	6503	SO:0001583	missense	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202935980A>T	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.62T>A	1.37:g.202935980A>T	ENSP00000356218:p.Leu21His	False	False		Somatic	0					p.L21H	NM_016243.2	NP_057327.2	WXS	Illumina HiSeq	Phase_I	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		2	136	-			21					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	c.62T>A	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423509	0.83559	.	.	ENSG00000159348	ENST00000367249	D	0.87966	-2.32	5.48	5.48	0.80851	.	0.513564	0.20313	N	0.094786	T	0.77922	0.4203	N	0.08118	0	0.45318	D	0.998319	D	0.59767	0.986	P	0.46718	0.525	T	0.76929	-0.2777	10	0.22109	T	0.4	.	13.506	0.61483	1.0:0.0:0.0:0.0	.	21	Q9UHQ9	NB5R1_HUMAN	H	21	ENSP00000356218:L21H	ENSP00000356218:L21H	L	-	2	0	CYB5R1	201202603	0.110000	0.22057	0.991000	0.47740	0.991000	0.79684	3.864000	0.56024	2.081000	0.62600	0.533000	0.62120	CTC		0.657	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	0	NM_016243		1:202935980
PSMA6	5687	broad.mit.edu	37	14	35761738	35761738	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:35761738A>G	ENST00000261479.4	+	1	176	c.56A>G	c.(55-57)gAg>gGg	p.E19G	AL121594.1_ENST00000578587.1_RNA|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000553809.1_Missense_Mutation_p.E19G|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000556506.1_Missense_Mutation_p.E19G|PSMA6_ENST00000540871.1_Intron	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTTTCACCCGAGGGTCGGCTC	0.582																																						ENST00000261479.4		NA																	0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(55-57)gAg>gGg		proteasome (prosome, macropain) subunit, alpha type, 6							100.0	96.0	98.0					14																	35761738		2203	4300	6503	SO:0001583	missense	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35761738A>G	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.56A>G	14.37:g.35761738A>G	ENSP00000261479:p.Glu19Gly	True	False		Somatic	0				PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.E19G|PSMA6_ENST00000556506.1_Missense_Mutation_p.E19G|PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron	p.E19G	NM_002791.1	NP_002782.1	WXS	Illumina HiSeq	Phase_I	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	1	176	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		19					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.56A>G	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	A	34	5.412570	0.96072	.	.	ENSG00000100902	ENST00000261479;ENST00000553809;ENST00000556506	T;T;T	0.51325	0.71;0.71;0.71	5.87	5.87	0.94306	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.75421	0.3847	H	0.95574	3.69	0.80722	D	1	D	0.57257	0.979	P	0.60541	0.876	T	0.83320	-0.0018	10	0.87932	D	0	-31.8945	14.4865	0.67622	1.0:0.0:0.0:0.0	.	19	P60900	PSA6_HUMAN	G	19	ENSP00000261479:E19G;ENSP00000452603:E19G;ENSP00000450528:E19G	ENSP00000261479:E19G	E	+	2	0	PSMA6	34831489	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.288000	0.78691	2.242000	0.73789	0.482000	0.46254	GAG		0.582	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1	0			14:35761738
