#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNAH2	146754	broad.mit.edu	37	17	7662780	7662780	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr17:7662780G>A	ENST00000572933.1	+	16	3949	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R830H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	830	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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R830L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGCTGGACCGCATGATGGAG	0.527																																						ENST00000572933.1																			1	Substitution - Missense(1)	p.R830L(1)	lung(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2488-2490)cGc>cAc		dynein, axonemal, heavy chain 2							101.0	89.0	93.0					17																	7662780		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7662780G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2489G>A	17.37:g.7662780G>A	ENSP00000458355:p.Arg830His					DNAH2_ENST00000389173.2_Missense_Mutation_p.R830H	p.R830H			Q9P225	DYH2_HUMAN			16	3949	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	830			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2489G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620310	0.28801	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23552	1.9	5.37	-2.47	0.06442	.	0.635976	0.15408	N	0.263929	T	0.12689	0.0308	N	0.12961	0.28	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20840	-1.0263	10	0.18710	T	0.47	.	12.7885	0.57520	0.3356:0.0:0.6644:0.0	.	830	Q9P225	DYH2_HUMAN	H	830	ENSP00000373825:R830H	ENSP00000353818:R830H	R	+	2	0	DNAH2	7603505	0.010000	0.17322	0.996000	0.52242	0.907000	0.53573	-0.477000	0.06583	-0.174000	0.10743	-0.678000	0.03780	CGC		0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	171	0	0	0	1	0	4	171				
ZNF44	51710	broad.mit.edu	37	19	12384688	12384688	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr19:12384688G>A	ENST00000356109.5	-	5	644	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	ZNF44_ENST00000355684.5_Missense_Mutation_p.H128Y	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CGGTGTTTGTGTCCAGTATCA	0.443																																						ENST00000356109.5																			0				ovary(1)	1						c.(526-528)Cac>Tac		zinc finger protein 44							155.0	155.0	155.0					19																	12384688		2180	4292	6472	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384688G>A	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.526C>T	19.37:g.12384688G>A	ENSP00000348419:p.His176Tyr					ZNF44_ENST00000355684.5_Missense_Mutation_p.H128Y	p.H176Y	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	644	-		Renal(1328;0.157)	176					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.526C>T	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	G	5.909	0.351784	0.11182	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.07216	3.26;3.21;3.25	1.28	0.0261	0.14148	.	.	.	.	.	T	0.05135	0.0137	N	0.25789	0.76	.	.	.	P;P	0.37500	0.528;0.597	B;B	0.33568	0.105;0.166	T	0.30208	-0.9986	8	0.87932	D	0	.	4.4495	0.11614	0.0:0.4595:0.3097:0.2307	.	176;128	P15621;F8W7T7	ZNF44_HUMAN;.	Y	176;176;128;128	ENSP00000377008:H176Y;ENSP00000348419:H176Y;ENSP00000347910:H128Y	ENSP00000347910:H128Y	H	-	1	0	ZNF44	12245688	0.000000	0.05858	0.001000	0.08648	0.315000	0.28087	-0.448000	0.06820	0.070000	0.16634	0.313000	0.20887	CAC		0.443	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		4	161	0	0	0	1	0	4	161				
SOX30	11063	broad.mit.edu	37	5	157078329	157078329	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:157078329G>A	ENST00000265007.6	-	1	1099	c.758C>T	c.(757-759)cCg>cTg	p.P253L	SOX30_ENST00000311371.5_Missense_Mutation_p.P253L|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	253					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCTGGTGCGGCCCAAAGGC	0.647																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(757-759)cCg>cTg		SRY (sex determining region Y)-box 30							42.0	45.0	44.0					5																	157078329		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078329G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.758C>T	5.37:g.157078329G>A	ENSP00000265007:p.Pro253Leu					SOX30_ENST00000311371.5_Missense_Mutation_p.P253L|SOX30_ENST00000519442.1_Intron	p.P253L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1099	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	253					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.758C>T	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121787	0.20877	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.97959	-4.63;-4.24	5.18	2.38	0.29361	.	0.538685	0.17001	N	0.190915	D	0.93393	0.7893	L	0.29908	0.895	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	D	0.87469	0.2413	10	0.62326	D	0.03	.	5.2346	0.15439	0.2285:0.0:0.6248:0.1467	.	253;253	O94993-2;O94993	.;SOX30_HUMAN	L	253	ENSP00000309343:P253L;ENSP00000265007:P253L	ENSP00000265007:P253L	P	-	2	0	SOX30	157010907	0.001000	0.12720	0.505000	0.27651	0.653000	0.38743	0.690000	0.25451	0.559000	0.29153	0.460000	0.39030	CCG		0.647	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		3	42	0	0	0	1	0	3	42				
EIF3F	8665	broad.mit.edu	37	11	8014547	8014547	+	Missense_Mutation	SNP	G	G	A	rs371389618		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr11:8014547G>A	ENST00000533626.1	+	6	1255	c.629G>A	c.(628-630)cGc>cAc	p.R210H	EIF3F_ENST00000537635.1_Missense_Mutation_p.R225H|EIF3F_ENST00000449102.2_Missense_Mutation_p.R61H|EIF3F_ENST00000309828.4_Missense_Mutation_p.R210H					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGAACGGCCGCATGAGCATC	0.562																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(628-630)cGc>cAc		eukaryotic translation initiation factor 3, subunit F		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	93.0	87.0	89.0		629	5.2	1.0	11		89	2,8590	2.2+/-6.3	0,2,4294	no	missense	EIF3F	NM_003754.2	29	0,3,6494	AA,AG,GG		0.0233,0.0227,0.0231	benign	210/358	8014547	3,12991	2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8014547G>A	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.629G>A	11.37:g.8014547G>A	ENSP00000431800:p.Arg210His					EIF3F_ENST00000309828.4_Missense_Mutation_p.R210H|EIF3F_ENST00000449102.2_Missense_Mutation_p.R61H|EIF3F_ENST00000537635.1_Missense_Mutation_p.R225H	p.R210H			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	1255	+			210						Missense_Mutation	SNP	ENST00000533626.1	37	c.629G>A	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109777	0.56398	2.27E-4	2.33E-4	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.46063	1.46;1.46;1.46;0.88	5.2	5.2	0.72013	.	0.053623	0.64402	D	0.000001	T	0.39200	0.1069	L	0.51914	1.62	0.58432	D	0.999993	B	0.29301	0.241	B	0.24155	0.051	T	0.18304	-1.0341	10	0.40728	T	0.16	-11.2214	17.0429	0.86494	0.0:0.0:1.0:0.0	.	210	O00303	EIF3F_HUMAN	H	210;225;210;160;61	ENSP00000431800:R210H;ENSP00000442283:R225H;ENSP00000310040:R210H;ENSP00000396929:R61H	ENSP00000310040:R210H	R	+	2	0	EIF3F	7971123	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.144000	0.71762	2.797000	0.96272	0.655000	0.94253	CGC		0.562	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		4	153	0	0	0	1	0	4	153				
XPO6	23214	broad.mit.edu	37	16	28146602	28146602	+	Silent	SNP	G	G	T			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr16:28146602G>T	ENST00000304658.5	-	10	1878	c.1378C>A	c.(1378-1380)Cga>Aga	p.R460R	XPO6_ENST00000565698.1_Silent_p.R446R	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	460					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AACTGGATTCGATTCAACACC	0.478																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1378-1380)Cga>Aga		exportin 6							149.0	147.0	148.0					16																	28146602		2030	4188	6218	SO:0001819	synonymous_variant	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28146602G>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1378C>A	16.37:g.28146602G>T						XPO6_ENST00000565698.1_Silent_p.R446R	p.R460R	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			10	1878	-			460					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	c.1378C>A	CCDS42135.1																																																																																				0.478	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		4	215	1	0	0.0215528	1	0.0240884	4	215				
SNF8	11267	broad.mit.edu	37	17	47018424	47018424	+	Splice_Site	SNP	T	T	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr17:47018424T>A	ENST00000502492.1	-	3	488	c.106A>T	c.(106-108)Atg>Ttg	p.M36L	SNF8_ENST00000290330.3_Splice_Site_p.M36L			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	36					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						TGCTTTGACATCTGTTGGATG	0.512																																						ENST00000502492.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.e3-1		SNF8, ESCRT-II complex subunit							113.0	104.0	107.0					17																	47018424		2203	4300	6503	SO:0001630	splice_region_variant	11267				cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding	g.chr17:47018424T>A	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.106-1A>T	17.37:g.47018424T>A						SNF8_ENST00000290330.3_Splice_Site_p.M36_splice	p.M36_splice			Q96H20	SNF8_HUMAN			3	488	-			36					Q8IXY3|Q9UN50	Splice_Site	SNP	ENST00000502492.1	37	c.105_splice	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	t	17.76	3.468103	0.63625	.	.	ENSG00000159210	ENST00000502492;ENST00000290330;ENST00000510558	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	N	0.17474	0.49	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.39781	-0.9597	9	0.87932	D	0	-29.9445	14.9547	0.71104	0.0:0.0:0.0:1.0	.	36;36	Q96H20-2;Q96H20	.;SNF8_HUMAN	L	36	.	ENSP00000290330:M36L	M	-	1	0	SNF8	44373423	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.542000	0.82095	2.201000	0.70794	0.529000	0.55759	ATG		0.512	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241	Missense_Mutation	4	222	0	0	0	1	0	4	222				
MYO1B	4430	broad.mit.edu	37	2	192234339	192234339	+	Silent	SNP	C	C	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr2:192234339C>A	ENST00000392318.3	+	12	1351	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	MYO1B_ENST00000304164.4_Silent_p.I368I|MYO1B_ENST00000339514.4_Silent_p.I368I|RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000392316.1_Silent_p.I368I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	368	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TAAATCGAATCAATGAAAGCA	0.299																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1102-1104)atC>atA		myosin IB							70.0	70.0	70.0					2																	192234339		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192234339C>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1104C>A	2.37:g.192234339C>A						MYO1B_ENST00000339514.4_Silent_p.I368I|MYO1B_ENST00000392316.1_Silent_p.I368I|MYO1B_ENST00000304164.4_Silent_p.I368I	p.I368I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		12	1351	+			368			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.1104C>A	CCDS46477.1																																																																																				0.299	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		4	106	1	0	0.248553	1	0.25527	4	106				
EIF4G3	8672	broad.mit.edu	37	1	21268202	21268202	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr1:21268202G>A	ENST00000264211.8	-	8	1471	c.1277C>T	c.(1276-1278)cCt>cTt	p.P426L	EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P30L|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P426L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P426L|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.P432L|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P432L|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P437L	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	426					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGAGTGTgaggaggagaagc	0.532																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(1294-1296)cCt>cTt		eukaryotic translation initiation factor 4 gamma, 3							108.0	103.0	105.0					1																	21268202		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268202G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1277C>T	1.37:g.21268202G>A	ENSP00000264211:p.Pro426Leu					EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P432L|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P437L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P426L|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P426L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P426L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P30L	p.P432L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1878	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	426					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1295C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310401	0.60414	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.89	5.89	0.94794	.	0.241030	0.42420	D	0.000714	T	0.19366	0.0465	N	0.14661	0.345	0.58432	D	0.999999	P;P;P;B;B;B	0.46142	0.836;0.546;0.873;0.001;0.115;0.0	P;B;P;B;B;B	0.49047	0.526;0.244;0.599;0.003;0.076;0.001	T	0.01468	-1.1347	10	0.46703	T	0.11	-3.7856	12.6832	0.56934	0.0776:0.0:0.9224:0.0	.	426;621;552;30;432;426	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	L	426;622;426;432;30;552;426;437	ENSP00000264211:P426L;ENSP00000383274:P426L;ENSP00000364073:P432L;ENSP00000444693:P30L;ENSP00000364062:P426L	ENSP00000264211:P426L	P	-	2	0	EIF4G3	21140789	1.000000	0.71417	0.988000	0.46212	0.943000	0.58893	3.553000	0.53713	2.763000	0.94921	0.655000	0.94253	CCT		0.532	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		4	168	0	0	0	1	0	4	168				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		6	156	0	0	0	1	0	6	156				
DOCK11	139818	broad.mit.edu	37	X	117819770	117819770	+	Nonstop_Mutation	SNP	A	A	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chrX:117819770A>G	ENST00000276202.7	+	53	6285	c.6222A>G	c.(6220-6222)tgA>tgG	p.*2074W	DOCK11_ENST00000276204.6_Nonstop_Mutation_p.*2078W	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	0					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGAAGTGTGAGGAAATGCAG	0.393																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(6232-6234)tgA>tgG		dedicator of cytokinesis 11							186.0	154.0	165.0					X																	117819770		2203	4300	6503	SO:0001578	stop_lost	139818				blood coagulation	cytosol	GTP binding	g.chrX:117819770A>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6222A>G	X.37:g.117819770A>G	ENSP00000276202:p.*2074Trpext*23					DOCK11_ENST00000276202.7_Nonstop_Mutation_p.*2074W	p.*2078W			Q5JSL3	DOC11_HUMAN			53	6308	+			0					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonstop_Mutation	SNP	ENST00000276202.7	37	c.6234A>G	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130238	0.56721	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.93	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2831	0.21019	0.6379:0.2767:0.0854:0.0	.	.	.	.	W	2078;2074	.	.	X	+	3	0	DOCK11	117703798	1.000000	0.71417	0.987000	0.45799	0.947000	0.59692	3.430000	0.52807	0.856000	0.35383	0.486000	0.48141	TGA		0.393	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		3	132	0	0	0	1	0	3	132				
EFEMP2	30008	broad.mit.edu	37	11	65635868	65635868	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr11:65635868G>A	ENST00000307998.6	-	9	1102	c.872C>T	c.(871-873)gCg>gTg	p.A291V	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A291V|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	291	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCACTGGTGCGCACCAGACTC	0.642																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(871-873)gCg>gTg		EGF containing fibulin-like extracellular matrix protein 2							56.0	50.0	52.0					11																	65635868		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635868G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.872C>T	11.37:g.65635868G>A	ENSP00000309953:p.Ala291Val					EFEMP2_ENST00000528176.1_Missense_Mutation_p.A291V	p.A291V	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	9	1102	-			291			EGF-like 6; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.872C>T	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826253	0.50739	.	.	ENSG00000172638	ENST00000531645;ENST00000528176;ENST00000307998	D;D;D	0.92446	-3.04;-3.04;-2.21	4.98	1.83	0.25207	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.472661	0.17688	N	0.165400	D	0.84469	0.5479	L	0.41415	1.275	0.09310	N	1	P;P	0.37176	0.586;0.514	B;B	0.29598	0.094;0.104	T	0.72711	-0.4211	10	0.38643	T	0.18	.	8.3974	0.32566	0.0:0.1375:0.5209:0.3416	.	291;291	E9PRU1;O95967	.;FBLN4_HUMAN	V	7;291;291	ENSP00000436521:A7V;ENSP00000434151:A291V;ENSP00000309953:A291V	ENSP00000309953:A291V	A	-	2	0	EFEMP2	65392444	0.048000	0.20356	0.007000	0.13788	0.631000	0.37964	1.196000	0.32198	0.079000	0.16929	0.455000	0.32223	GCG		0.642	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		3	93	0	0	0	1	0	3	93				
ZNF362	149076	broad.mit.edu	37	1	33747210	33747210	+	Missense_Mutation	SNP	T	T	C			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr1:33747210T>C	ENST00000539719.1	+	6	876	c.706T>C	c.(706-708)Ttt>Ctt	p.F236L	ZNF362_ENST00000373428.5_Missense_Mutation_p.F236L	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCACTGACCTTTTTCACCAA	0.562																																					Pancreas(162;1431 2676 35353 38425)	ENST00000539719.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(706-708)Ttt>Ctt		zinc finger protein 362							126.0	110.0	116.0					1																	33747210		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33747210T>C		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.706T>C	1.37:g.33747210T>C	ENSP00000446335:p.Phe236Leu					ZNF362_ENST00000373428.5_Missense_Mutation_p.F236L	p.F236L	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN			6	876	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	236					Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.706T>C	CCDS377.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328162	0.81690	.	.	ENSG00000160094	ENST00000539719;ENST00000373428	T;T	0.41065	1.01;1.01	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.606264	0.14599	N	0.309726	T	0.61999	0.2392	M	0.72118	2.19	0.53005	D	0.999968	P	0.52842	0.956	P	0.62184	0.899	T	0.63431	-0.6639	10	0.87932	D	0	-12.9425	13.5331	0.61633	0.0:0.0:0.0:1.0	.	236	Q5T0B9	ZN362_HUMAN	L	236	ENSP00000446335:F236L;ENSP00000362527:F236L	ENSP00000362527:F236L	F	+	1	0	ZNF362	33519797	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.991000	0.88244	2.074000	0.62210	0.459000	0.35465	TTT		0.562	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		3	148	0	0	0	1	0	3	148				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR329-1_ENST00000385028.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR758_ENST00000390227.1_RNA|MIR380_ENST00000362112.2_RNA|MIR299_ENST00000385016.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR1197_ENST00000408818.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		5	161	0	0	0	1	0	5	161				
NIPBL	25836	broad.mit.edu	37	5	36985887	36985887	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:36985887A>G	ENST00000282516.8	+	10	3104	c.2605A>G	c.(2605-2607)Aaa>Gaa	p.K869E	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K869E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	869					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTAGAACGAAAACACAGGCA	0.398																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2605-2607)Aaa>Gaa		Nipped-B homolog (Drosophila)							48.0	48.0	48.0					5																	36985887		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985887A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2605A>G	5.37:g.36985887A>G	ENSP00000282516:p.Lys869Glu					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K869E	p.K869E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3104	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		869					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.2605A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554454	0.45487	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93547	-3.24;-3.24	5.99	5.99	0.97316	.	0.141960	0.51477	D	0.000096	D	0.90345	0.6979	N	0.24115	0.695	0.47094	D	0.999312	P;P	0.50156	0.888;0.932	B;P	0.48571	0.378;0.582	D	0.88663	0.3190	10	0.19147	T	0.46	-17.1723	16.4943	0.84223	1.0:0.0:0.0:0.0	.	869;869	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	E	869	ENSP00000282516:K869E;ENSP00000406266:K869E	ENSP00000282516:K869E	K	+	1	0	NIPBL	37021644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.780000	0.62382	2.291000	0.77112	0.533000	0.62120	AAA		0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		7	75	0	0	0	1	0	7	75				
SPZ1	84654	broad.mit.edu	37	5	79616605	79616605	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:79616605C>G	ENST00000296739.4	+	1	816	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	191	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGCAGATGATAAT	0.353																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(571-573)Cag>Gag		spermatogenic leucine zipper 1							80.0	73.0	75.0					5																	79616605		1823	4086	5909	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616605C>G		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.571C>G	5.37:g.79616605C>G	ENSP00000369611:p.Gln191Glu						p.Q191E	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	816	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	191					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.571C>G	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	0.445	-0.896756	0.02472	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.37235	1.21;1.75	3.72	1.88	0.25563	.	0.620126	0.14328	N	0.326540	T	0.09862	0.0242	N	0.01493	-0.835	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35276	-0.9795	10	0.02654	T	1	-1.396	4.8081	0.13329	0.2072:0.3907:0.4021:0.0	.	191	Q9BXG8	SPZ1_HUMAN	E	191	ENSP00000426530:Q191E;ENSP00000369611:Q191E	ENSP00000369611:Q191E	Q	+	1	0	SPZ1	79652361	0.003000	0.15002	0.011000	0.14972	0.387000	0.30353	0.012000	0.13287	0.186000	0.20125	-0.319000	0.08680	CAG		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		3	95	0	0	0	1	0	3	95				
NADSYN1	55191	broad.mit.edu	37	11	71185490	71185490	+	Missense_Mutation	SNP	G	G	A	rs199672894		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr11:71185490G>A	ENST00000319023.2	+	9	904	c.716G>A	c.(715-717)cGc>cAc	p.R239H	NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	239	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GACGGGGACCGCCTGTACTAC	0.562																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(715-717)cGc>cAc		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						137.0	120.0	126.0					11																	71185490		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71185490G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.716G>A	11.37:g.71185490G>A	ENSP00000326424:p.Arg239His						p.R239H	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			9	904	+			239			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.716G>A	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034868	0.93575	.	.	ENSG00000172890	ENST00000319023	D	0.86297	-2.1	4.7	4.7	0.59300	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.96153	0.9109	10	0.66056	D	0.02	-27.7658	15.1483	0.72677	0.0:0.0:1.0:0.0	.	239	Q6IA69	NADE_HUMAN	H	239	ENSP00000326424:R239H	ENSP00000326424:R239H	R	+	2	0	NADSYN1	70863138	1.000000	0.71417	0.950000	0.38849	0.906000	0.53458	8.541000	0.90644	2.139000	0.66308	0.561000	0.74099	CGC		0.562	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		8	122	0	0	0	1	0	8	122				
FAM208A	23272	broad.mit.edu	37	3	56681126	56681126	+	Missense_Mutation	SNP	C	C	A	rs144722652	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr3:56681126C>A	ENST00000493960.2	-	14	1649	c.1639G>T	c.(1639-1641)Gcc>Tcc	p.A547S	FAM208A_ENST00000431842.2_Missense_Mutation_p.A151S|FAM208A_ENST00000355628.5_Missense_Mutation_p.A547S	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	547							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAATTTATGGCGCTTATATTT	0.328																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(451-453)Gcc>Tcc		family with sequence similarity 208, member A							40.0	44.0	43.0					3																	56681126		2196	4295	6491	SO:0001583	missense	23272							g.chr3:56681126C>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1639G>T	3.37:g.56681126C>A	ENSP00000417509:p.Ala547Ser					FAM208A_ENST00000355628.5_Missense_Mutation_p.A547S|FAM208A_ENST00000493960.2_Missense_Mutation_p.A547S	p.A151S	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			7	1375	-			547					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.451G>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	4.884	0.164362	0.09287	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11169	2.8;2.98;2.98	5.38	2.98	0.34508	.	0.382752	0.25211	N	0.032305	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.45366	-0.9266	10	0.06365	T	0.9	-2.2419	6.8896	0.24222	0.0:0.136:0.1272:0.7368	.	547;547;151	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	S	151;547;547	ENSP00000399410:A151S;ENSP00000417509:A547S;ENSP00000347845:A547S	ENSP00000347845:A547S	A	-	1	0	C3orf63	56656166	0.997000	0.39634	0.992000	0.48379	0.913000	0.54294	0.924000	0.28777	0.478000	0.27488	-0.238000	0.12139	GCC		0.328	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		3	65	1	0	1	1	1	3	65				
ENTPD8	377841	broad.mit.edu	37	9	140332516	140332516	+	Silent	SNP	C	C	A	rs531135716	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr9:140332516C>A	ENST00000472938.1	-	2	163	c.147G>T	c.(145-147)gcG>gcT	p.A49A	ENTPD8_ENST00000371506.2_Silent_p.A49A|ENTPD8_ENST00000344119.2_Silent_p.A49A			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	49					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGGAGGAGCCCGCATCAAACA	0.647																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(145-147)gcG>gcT		ectonucleoside triphosphate diphosphohydrolase 8							64.0	65.0	64.0					9																	140332516		2199	4300	6499	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140332516C>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.147G>T	9.37:g.140332516C>A						ENTPD8_ENST00000472938.1_Silent_p.A49A|ENTPD8_ENST00000344119.2_Silent_p.A49A	p.A49A	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	3	330	-	all_cancers(76;0.0926)		49					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.147G>T	CCDS43913.1																																																																																				0.647	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		3	40	1	0	0.115264	1	0.125144	3	40				
BDP1	55814	broad.mit.edu	37	5	70840993	70840993	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:70840993C>T	ENST00000358731.4	+	32	6954	c.6691C>T	c.(6691-6693)Ccc>Tcc	p.P2231S	BDP1_ENST00000380675.2_Missense_Mutation_p.P367S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2231					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTTGAAGAGCCCCAGATAAA	0.468																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(6691-6693)Ccc>Tcc		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							115.0	107.0	109.0					5																	70840993		1846	4102	5948	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70840993C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6691C>T	5.37:g.70840993C>T	ENSP00000351575:p.Pro2231Ser					BDP1_ENST00000380675.2_Missense_Mutation_p.P367S	p.P2231S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	32	6954	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2231					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.6691C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513164	0.27123	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.49720	3.6;0.77	4.45	-0.822	0.10819	.	0.848738	0.10487	N	0.668848	T	0.44953	0.1318	L	0.56769	1.78	0.09310	N	1	B;P	0.39326	0.221;0.668	B;B	0.39935	0.161;0.314	T	0.36578	-0.9742	10	0.56958	D	0.05	.	11.3565	0.49620	0.0:0.4328:0.4879:0.0793	.	2231;2231	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	S	2231;1779;367;367	ENSP00000351575:P2231S;ENSP00000370050:P367S	ENSP00000351575:P2231S	P	+	1	0	BDP1	70876749	0.001000	0.12720	0.002000	0.10522	0.062000	0.15995	-0.739000	0.04866	-0.607000	0.05738	-0.795000	0.03280	CCC		0.468	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		22	78	0	0	0	1	0	22	78				
SLC26A11	284129	broad.mit.edu	37	17	78201660	78201660	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr17:78201660C>G	ENST00000361193.3	+	7	917	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	SLC26A11_ENST00000411502.3_Missense_Mutation_p.L213V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L213V|SLC26A11_ENST00000572725.1_Missense_Mutation_p.L213V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTGCTGCTGCTGGTGCTGAA	0.682																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(637-639)Ctg>Gtg		solute carrier family 26 (anion exchanger), member 11							97.0	79.0	85.0					17																	78201660		2203	4300	6503	SO:0001583	missense	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201660C>G		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.637C>G	17.37:g.78201660C>G	ENSP00000355384:p.Leu213Val					SLC26A11_ENST00000572725.1_Missense_Mutation_p.L213V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L213V|SLC26A11_ENST00000411502.3_Missense_Mutation_p.L213V	p.L213V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	917	+	all_neural(118;0.0538)		213						Missense_Mutation	SNP	ENST00000361193.3	37	c.637C>G	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709174	0.30322	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93712	-3.27;-3.27;-3.27	4.52	2.46	0.29980	Sulphate transporter (1);	0.469026	0.21816	N	0.068696	D	0.86497	0.5947	N	0.25825	0.765	0.36688	D	0.879447	B	0.13594	0.008	B	0.18561	0.022	T	0.79614	-0.1730	10	0.39692	T	0.17	-11.579	7.8613	0.29511	0.0:0.5225:0.3851:0.0924	.	213	Q86WA9	S2611_HUMAN	V	213	ENSP00000403998:L213V;ENSP00000440724:L213V;ENSP00000355384:L213V	ENSP00000355384:L213V	L	+	1	2	SLC26A11	75816255	0.824000	0.29247	0.999000	0.59377	0.992000	0.81027	0.799000	0.27028	0.327000	0.23409	0.491000	0.48974	CTG		0.682	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			3	220	0	0	0	1	0	3	220				
G2E3	55632	broad.mit.edu	37	14	31061616	31061616	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr14:31061616C>G	ENST00000206595.6	+	5	479	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	G2E3_ENST00000553504.1_Missense_Mutation_p.Q139E|G2E3_ENST00000438909.2_Missense_Mutation_p.Q63E|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	109					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATGTGGACTTCAGAGAGAATG	0.353																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(325-327)Cag>Gag		G2/M-phase specific E3 ubiquitin protein ligase							119.0	114.0	116.0					14																	31061616		2203	4300	6503	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31061616C>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.325C>G	14.37:g.31061616C>G	ENSP00000206595:p.Gln109Glu					G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.Q139E|G2E3_ENST00000438909.2_Missense_Mutation_p.Q63E	p.Q109E	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			5	479	+			109					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.325C>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	7.070	0.568079	0.13560	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.93	1.88	0.25563	Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);	0.317699	0.39274	N	0.001406	T	0.39489	0.1080	N	0.02854	-0.475	0.34876	D	0.744052	B;B	0.25772	0.01;0.134	B;B	0.23574	0.02;0.047	T	0.32322	-0.9911	10	0.15066	T	0.55	-1.4209	14.7519	0.69533	0.1141:0.3309:0.555:0.0	.	63;109	B4DIF9;Q7L622	.;G2E3_HUMAN	E	109;109;63;139;109;109	ENSP00000206595:Q109E;ENSP00000448745:Q109E;ENSP00000391068:Q63E;ENSP00000451653:Q139E;ENSP00000451147:Q109E;ENSP00000446615:Q109E	ENSP00000206595:Q109E	Q	+	1	0	G2E3	30131367	0.897000	0.30589	0.998000	0.56505	0.969000	0.65631	0.276000	0.18716	0.070000	0.16634	-1.211000	0.01629	CAG		0.353	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		3	76	0	0	0	1	0	3	76				
C2orf42	54980	broad.mit.edu	37	2	70408980	70408980	+	Silent	SNP	T	T	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr2:70408980T>A	ENST00000264434.2	-	3	517	c.138A>T	c.(136-138)acA>acT	p.T46T	C2orf42_ENST00000420306.1_Silent_p.T46T|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	46										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGTTCCACATGTCTTGTTCT	0.493																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(136-138)acA>acT		chromosome 2 open reading frame 42							160.0	120.0	133.0					2																	70408980		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70408980T>A	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.138A>T	2.37:g.70408980T>A						C2orf42_ENST00000420306.1_Silent_p.T46T|C2orf42_ENST00000470096.1_5'UTR	p.T46T	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			3	517	-			46					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.138A>T	CCDS1899.1																																																																																				0.493	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		4	145	0	0	0	1	0	4	145				
RAD17	5884	broad.mit.edu	37	5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A	rs200909538	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1597-1599)aaT>aaA	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							19.0	19.0	19.0					5																	68692367		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692367T>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1599T>A	5.37:g.68692367T>A	ENSP00000426191:p.Asn533Lys					RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K	p.N533K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2277	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	533			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1599T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328380	0.41197	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.24	1.46	0.22682	.	0.188302	0.56097	D	0.000039	T	0.25121	0.0610	M	0.64404	1.975	0.37592	D	0.920216	P;P;B	0.43973	0.587;0.823;0.348	B;P;B	0.46320	0.287;0.512;0.191	T	0.19224	-1.0312	10	0.16420	T	0.52	0.2205	5.2212	0.15370	0.0:0.24:0.1489:0.6111	.	533;436;522	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	522;533;522;357;522;522;522;436;357;533;141	ENSP00000355226:N522K;ENSP00000426191:N533K;ENSP00000346938:N522K;ENSP00000427743:N357K;ENSP00000346271:N522K;ENSP00000311227:N522K;ENSP00000303134:N522K;ENSP00000282891:N436K;ENSP00000350725:N357K;ENSP00000370151:N533K;ENSP00000425005:N141K	ENSP00000282891:N436K	N	+	3	2	RAD17	68728123	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.030000	0.30153	0.071000	0.16664	0.455000	0.32223	AAT		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		6	12	0	0	0	1	0	6	12				
FGD5	152273	broad.mit.edu	37	3	14861821	14861821	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr3:14861821G>A	ENST00000285046.5	+	1	1353	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	FGD5_ENST00000543601.1_Missense_Mutation_p.V174I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	415					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGATGTGGTGGTCGTGCTGGA	0.682																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1243-1245)Gtc>Atc		FYVE, RhoGEF and PH domain containing 5							25.0	30.0	28.0					3																	14861821		2055	4179	6234	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861821G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1243G>A	3.37:g.14861821G>A	ENSP00000285046:p.Val415Ile					FGD5_ENST00000543601.1_Missense_Mutation_p.V174I	p.V415I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1353	+			415					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1243G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806213	0.31961	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76709	-1.04;-0.98	5.03	2.87	0.33458	.	0.377412	0.22446	N	0.059959	T	0.58779	0.2146	N	0.20986	0.625	0.22811	N	0.99871	B;B	0.28512	0.214;0.214	B;B	0.20767	0.031;0.031	T	0.42832	-0.9428	10	0.22109	T	0.4	-30.7446	8.3469	0.32279	0.3329:0.0:0.6671:0.0	.	174;415	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	415;174	ENSP00000285046:V415I;ENSP00000445949:V174I	ENSP00000285046:V415I	V	+	1	0	FGD5	14836825	0.041000	0.20044	0.441000	0.26858	0.113000	0.19764	0.846000	0.27682	1.116000	0.41820	0.591000	0.81541	GTC		0.682	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		3	54	0	0	0	1	0	3	54				
LPA	4018	broad.mit.edu	37	6	161020597	161020597	+	Silent	SNP	A	A	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr6:161020597A>G	ENST00000316300.5	-	20	3266	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	LPA_ENST00000447678.1_Silent_p.T1074T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3582	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGCTTGGCAAGTTCTTCCTG	0.498																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3220-3222)acT>acC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						283.0	303.0	296.0					6																	161020597		2203	4300	6503	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020597A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3222T>C	6.37:g.161020597A>G						LPA_ENST00000316300.5_Silent_p.T1074T	p.T1074T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3342	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3582			Kringle 10.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.3222T>C	CCDS43523.1																																																																																				0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	552	0	0	0	1	0	5	552				
NLGN4Y	22829	broad.mit.edu	37	Y	16734111	16734111	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chrY:16734111C>G	ENST00000297967.5	+	1	211	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	38					learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAAGTTCACCCTCATTGACAG	0.463																																						ENST00000297967.5																			0				large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						c.(112-114)Ctc>Gtc		neuroligin 4, Y-linked																																				SO:0001583	missense	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16734111C>G		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000297967.5:c.112C>G	Y.37:g.16734111C>G	ENSP00000297967:p.Leu38Val					NLGN4Y_ENST00000476359.1_3'UTR	p.L38V	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN			1	211	+			38					F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000297967.5	37	c.112C>G	CCDS55553.1																																																																																				0.463	NLGN4Y-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014893		5	66	0	0	0	1	0	5	66				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	161	0	0	0	1	0	5	161				
NTSR1	4923	broad.mit.edu	37	20	61386045	61386045	+	Silent	SNP	C	C	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr20:61386045C>A	ENST00000370501.3	+	2	1094	c.723C>A	c.(721-723)acC>acA	p.T241T		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	241					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			AGGTCAACACCTTCATGTCCT	0.612																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(721-723)acC>acA		neurotensin receptor 1 (high affinity)							129.0	115.0	120.0					20																	61386045		2202	4300	6502	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386045C>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.723C>A	20.37:g.61386045C>A							p.T241T	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1094	+	Breast(26;3.65e-08)		241					Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.723C>A	CCDS13502.1																																																																																				0.612	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			4	223	1	0	0.150653	1	0.159023	4	223				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		45	82	0	0	0	1	0	45	82				
FAM122B	159090	broad.mit.edu	37	X	133919917	133919917	+	Splice_Site	SNP	T	T	C			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chrX:133919917T>C	ENST00000370790.1	-	7	1429	c.501A>G	c.(499-501)aaA>aaG	p.K167K	FAM122B_ENST00000486347.1_Splice_Site_p.K168K|FAM122B_ENST00000343004.5_Splice_Site_p.K186K|FAM122B_ENST00000298090.6_Splice_Site_p.K186K|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	167										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					gctacatACCTTTTCTTTTAA	0.388																																						ENST00000370790.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6						c.e7+1		family with sequence similarity 122B							184.0	137.0	153.0					X																	133919917		2203	4300	6503	SO:0001630	splice_region_variant	159090							g.chrX:133919917T>C	BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.502+1A>G	X.37:g.133919917T>C						FAM122B_ENST00000486347.1_Splice_Site_p.K168_splice|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Splice_Site_p.K186_splice|FAM122B_ENST00000298090.6_Splice_Site_p.K186_splice	p.K167_splice	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN			7	1429	-	Acute lymphoblastic leukemia(192;0.000127)		167					A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Splice_Site	SNP	ENST00000370790.1	37	c.502_splice	CCDS55497.1																																																																																				0.388	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058382.1	NM_145284	Silent	3	89	0	0	0	1	0	3	89				
POLE	5426	broad.mit.edu	37	12	133218793	133218793	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr12:133218793C>G	ENST00000320574.5	-	38	5186	c.5143G>C	c.(5143-5145)Gag>Cag	p.E1715Q	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.E1688Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1715					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTGTTGATCTCAACAGTGGCT	0.557								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(5143-5145)Gag>Cag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							117.0	118.0	118.0					12																	133218793		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133218793C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5143G>C	12.37:g.133218793C>G	ENSP00000322570:p.Glu1715Gln					POLE_ENST00000535270.1_Missense_Mutation_p.E1688Q	p.E1715Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	38	5186	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1715					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5143G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207838	0.58343	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.22336	1.96;1.96;1.96	5.43	5.43	0.79202	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.75447	2.3	0.58432	D	0.999999	P	0.42871	0.792	B	0.43194	0.411	T	0.09707	-1.0662	10	0.14656	T	0.56	.	19.2593	0.93961	0.0:1.0:0.0:0.0	.	1715	Q07864	DPOE1_HUMAN	Q	1715;1726;1688	ENSP00000322570:E1715Q;ENSP00000406383:E1726Q;ENSP00000445753:E1688Q	ENSP00000322570:E1715Q	E	-	1	0	POLE	131728866	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	7.405000	0.80007	2.557000	0.86248	0.655000	0.94253	GAG		0.557	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		5	237	0	0	0	1	0	5	237				
SUPT20H	55578	broad.mit.edu	37	13	37598529	37598529	+	Silent	SNP	T	T	C			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr13:37598529T>C	ENST00000350612.6	-	18	1600	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K	SUPT20H_ENST00000475892.1_Silent_p.K460K|SUPT20H_ENST00000542180.1_Silent_p.K424K|SUPT20H_ENST00000360252.4_Silent_p.K461K|SUPT20H_ENST00000356185.3_Silent_p.K461K|SUPT20H_ENST00000464744.1_Silent_p.K461K	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	460					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GGGGTCGATGTTTTACACCCT	0.353																																						ENST00000360252.4																			0											c.(1381-1383)aaA>aaG		suppressor of Ty 20 homolog (S. cerevisiae)							82.0	76.0	78.0					13																	37598529		2203	4300	6503	SO:0001819	synonymous_variant	55578							g.chr13:37598529T>C	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1380A>G	13.37:g.37598529T>C						SUPT20H_ENST00000475892.1_Silent_p.K460K|SUPT20H_ENST00000356185.3_Silent_p.K461K|SUPT20H_ENST00000350612.6_Silent_p.K460K|SUPT20H_ENST00000464744.1_Silent_p.K461K|SUPT20H_ENST00000542180.1_Silent_p.K424K	p.K461K	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					18	1630	-								E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	c.1383A>G	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	T	8.816	0.936349	0.18206	.	.	ENSG00000102710	ENST00000469488	.	.	.	5.87	-2.12	0.07165	.	.	.	.	.	T	0.51500	0.1678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45116	-0.9283	4	.	.	.	-14.3777	7.6492	0.28337	0.0:0.4434:0.1305:0.4262	.	.	.	.	S	68	.	.	N	-	2	0	FAM48A	36496529	1.000000	0.71417	0.414000	0.26521	0.822000	0.46500	0.623000	0.24447	-0.327000	0.08551	-0.334000	0.08254	AAC		0.353	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		3	93	0	0	0	1	0	3	93				
MKL2	57496	broad.mit.edu	37	16	14304130	14304130	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr16:14304130C>T	ENST00000341243.5	+	2	152	c.152C>T	c.(151-153)aCg>aTg	p.T51M	MKL2_ENST00000571589.1_Missense_Mutation_p.T62M|MKL2_ENST00000573051.1_Missense_Mutation_p.T11M|MKL2_ENST00000318282.5_Missense_Mutation_p.T62M|MKL2_ENST00000574045.1_Missense_Mutation_p.T62M|MKL2_ENST00000572567.1_Missense_Mutation_p.T51M			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	51					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAAGGAGGACGAGAGAACAA	0.483																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(184-186)aCg>aTg		MKL/myocardin-like 2							174.0	135.0	148.0					16																	14304130		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14304130C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.152C>T	16.37:g.14304130C>T	ENSP00000345841:p.Thr51Met					MKL2_ENST00000574045.1_Missense_Mutation_p.T62M|MKL2_ENST00000572567.1_Missense_Mutation_p.T51M|MKL2_ENST00000318282.5_Missense_Mutation_p.T62M|MKL2_ENST00000341243.5_Missense_Mutation_p.T51M|MKL2_ENST00000573051.1_Missense_Mutation_p.T11M	p.T62M	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			4	357	+			51					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.185C>T		.	.	.	.	.	.	.	.	.	.	c	21.7	4.193636	0.78902	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99857	-7.22;-7.22	5.41	5.41	0.78517	.	0.102463	0.64402	D	0.000003	D	0.99854	0.9932	M	0.81341	2.54	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.96746	0.9550	10	0.87932	D	0	-17.4756	18.5536	0.91075	0.0:1.0:0.0:0.0	.	11;62;51;62	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	M	62;51;51	ENSP00000339086:T62M;ENSP00000345841:T51M	ENSP00000339086:T62M	T	+	2	0	MKL2	14211631	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	7.568000	0.82369	2.689000	0.91719	0.655000	0.94253	ACG		0.483	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		5	116	0	0	0	1	0	5	116				
PLEKHA6	22874	broad.mit.edu	37	1	204192635	204192635	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr1:204192635delG	ENST00000272203.3	-	22	3426	c.3110delC	c.(3109-3111)ccafs	p.P1037fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.P1057fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1037										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGCCCCGTGGGGATTCAGA	0.592																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3109-3111)cafs		pleckstrin homology domain containing, family A member 6							20.0	20.0	20.0					1																	204192635		2056	3997	6053	SO:0001589	frameshift_variant	22874							g.chr1:204192635delG	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.3110delC	1.37:g.204192635delG	ENSP00000272203:p.Pro1037fs					PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.P1057fs	p.P1037fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		22	3426	-	all_cancers(21;0.0222)|Breast(84;0.179)		1037					A7MD51|Q5VTI6	Frame_Shift_Del	DEL	ENST00000272203.3	37	c.3110delC	CCDS1444.1																																																																																				0.592	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		2	4						2	4	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	6						4	6	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr8:133150232_133150233insT	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aaattcfs	p.F534fs	KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.F534fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.F414fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	534					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCTCCTTGAATTTTTTTTTAT	0.455																																						ENST00000388996.4																			1	Substitution - Missense(1)	p.F534I(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1597-1602)aatcaafs		potassium voltage-gated channel, KQT-like subfamily, member 3																																				SO:0001589	frameshift_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150232_133150233insT	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1600dupA	8.37:g.133150241_133150241dupT	ENSP00000373648:p.Phe534fs					KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs	p.NQ533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2019_2020	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		533					A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Ins	INS	ENST00000388996.4	37	c.1599_1600insA	CCDS34943.1																																																																																				0.455	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		7	209						7	209	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2746-2751)gaa>ga		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001651	inframe_deletion	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486026_94486028delTCC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2748_2750delGGA	9.37:g.94486035_94486037delTCC	ENSP00000364860:p.Glu917del					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.EE916del	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2946_2948	-			916					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	In_Frame_Del	DEL	ENST00000375708.3	37	c.2748_2750delGGA	CCDS6691.1																																																																																				0.645	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			7	228						7	228	---	---	---	---
ADCY6	112	broad.mit.edu	37	12	49183367	49183367	+	5'Flank	DEL	G	G	-	rs10711161	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr12:49183367delG	ENST00000550422.1	-	0	0				RP11-579D7.4_ENST00000549864.1_lincRNA	NM_020983.2	NP_066193.1	O43306	ADCY6_HUMAN	adenylate cyclase 6						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ccctgccccagccccagcccc	0.657													?|G|-|unsure	2423	0.483826	0.3109	0.611	5008	,	,		4759	0.9048		0.3777	False		,,,				2504	0.3027					ENST00000549864.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr12:49183367delG		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306			12.37:g.49183367delG	Exception_encountered													0	9	+								Q9NR75|Q9UDB0	RNA	DEL	ENST00000550422.1	37		CCDS8768.1																																																																																				0.657	ADCY6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408862.1	NM_020983		4	2						4	2	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4165-4167)aaafs	p.K1389fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1389fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1389					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4162-4167)ataaaafs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93545433_93545434insA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4173dupA	15.37:g.93545442_93545442dupA	ENSP00000377747:p.Lys1389fs					CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs	p.IK1388fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		33	5232_5233	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1388					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.4164_4165insA	CCDS10374.2																																																																																				0.337	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		10	99						10	99	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29096086	29096087	+	RNA	INS	-	-	T	rs560743331|rs199852971		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr17:29096086_29096087insT	ENST00000582557.1	+	0	1381																											AATATTGGTAATTTTTTTTTTT	0.347																																						ENST00000582557.1																			0																																																			0							g.chr17:29096086_29096087insT																													17.37:g.29096097_29096097dupT														0	1381	+									RNA	INS	ENST00000582557.1	37																																																																																						0.347	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			4	9						4	9	---	---	---	---
AP001347.6	0	broad.mit.edu	37	21	15428695	15428734	+	RNA	DEL	CAGGGCCAGGGCCAGGACCAGGAAAGGGCAATGTCAGGAC	CAGGGCCAGGGCCAGGACCAGGAAAGGGCAATGTCAGGAC	-	rs62209906|rs67423764|rs62209905|rs531690615|rs148470751	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr21:15428695_15428734delCAGGGCCAGGGCCAGGACCAGGAAAGGGCAATGTCAGGAC	ENST00000428809.1	+	0	177				AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000448463.1_RNA																							agggccggggcagggccagggccaggaccaggaaagggcaatgtcaggaccagggccatg	0.671														1625	0.324481	0.2874	0.4035	5008	,	,		26301	0.2698		0.3191	False		,,,				2504	0.3804					ENST00000428809.1																			0																																																			0							g.chr21:15428695_15428734delCAGGGCCAGGGCCAGGACCAGGAAAGGGCAATGTCAGGAC																													21.37:g.15428695_15428734delCAGGGCCAGGGCCAGGACCAGGAAAGGGCAATGTCAGGAC														0	177	+									RNA	DEL	ENST00000428809.1	37																																																																																						0.671	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			2	4						2	4	---	---	---	---
