#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
EPHA10	284656	broad.mit.edu	37	1	38197144	38197144	+	Silent	SNP	C	C	T	rs77925917	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:38197144C>T	ENST00000373048.4	-	7	1601	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	EPHA10_ENST00000540011.1_Silent_p.P29P|EPHA10_ENST00000427468.2_Silent_p.P534P|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.P29P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	534	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.P535P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGATGGCCCCGGGGAAGCGG	0.597													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16209	0.0		0.0	False		,,,				2504	0.0					uc009vvi.3																			1	Substitution - coding silent(1)	p.S534Y(1)|p.P535P(1)	urinary_tract(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1600-1602)ccG>ccA		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.		C		6,3738		0,6,1866	80.0	82.0	81.0		1602	-7.8	0.9	1	dbSNP_133	81	0,8202		0,0,4101	no	coding-synonymous	EPHA10	NM_001099439.1		0,6,5967	TT,TC,CC		0.0,0.1603,0.0502		534/1009	38197144	6,11940	1872	4101	5973	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197144C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1602G>A	1.37:g.38197144C>T						EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	p.P534P	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			6	1688	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	534			Fibronectin type-III 2.		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1602G>A	CCDS41305.1																																																																																				0.597	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
TMEM69	51249	broad.mit.edu	37	1	46159245	46159245	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:46159245T>C	ENST00000372025.4	+	3	1569	c.412T>C	c.(412-414)Tct>Cct	p.S138P	RP11-767N6.7_ENST00000430643.1_RNA|TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	138						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CAGTTTCCTATCTTTCTTGGG	0.443																																						uc001cor.1																			0				kidney(3)|lung(4)|ovary(1)	8						c.(412-414)Tct>Cct		Homo sapiens transmembrane protein 69 (TMEM69), mRNA.							90.0	88.0	89.0					1																	46159245		1849	4093	5942	SO:0001583	missense	51249					integral to membrane		g.chr1:46159245T>C	BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 154"""	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.412T>C	1.37:g.46159245T>C	ENSP00000361095:p.Ser138Pro						p.S138P	NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN			2	608	+	Acute lymphoblastic leukemia(166;0.155)		138					Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	ENST00000372025.4	37	c.412T>C	CCDS41325.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147293	0.77888	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.83	3.35	0.38373	.	0.207411	0.51477	D	0.000083	T	0.80149	0.4570	M	0.88775	2.98	0.46981	D	0.999278	D	0.69078	0.997	D	0.70016	0.967	D	0.83503	0.0076	9	0.87932	D	0	-14.5797	12.3045	0.54893	0.0:0.0:0.2769:0.7231	.	138	Q5SWH9	TMM69_HUMAN	P	138	.	ENSP00000361095:S138P	S	+	1	0	TMEM69	45931832	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	3.197000	0.51028	1.019000	0.39547	0.402000	0.26972	TCT		0.443	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486	
KIAA1324	57535	broad.mit.edu	37	1	109737164	109737164	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:109737164C>T	ENST00000369939.3	+	15	2252	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	KIAA1324_ENST00000529753.1_Missense_Mutation_p.S603F|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	690					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGCTTCACTTCCAAAGGGCTG	0.493																																						uc021orb.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2068-2070)tCc>tTc		Homo sapiens KIAA1324 (KIAA1324), mRNA.							126.0	100.0	109.0					1																	109737164		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109737164C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2069C>T	1.37:g.109737164C>T	ENSP00000358955:p.Ser690Phe					KIAA1324_uc009wex.2_Missense_Mutation_p.S640F|KIAA1324_uc010ovg.2_Missense_Mutation_p.S588F|KIAA1324_uc009wey.3_Missense_Mutation_p.S603F|KIAA1324_uc001dwr.3_Missense_Mutation_p.S340F|KIAA1324_uc001dws.1_5'Flank|KIAA1324_uc009wez.1_5'Flank	p.S690F	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	14	2290	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	690					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.2069C>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998947	0.74818	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.03717	3.83;3.83;3.83	5.68	5.68	0.88126	.	0.162273	0.52532	D	0.000063	T	0.09730	0.0239	L	0.60455	1.87	0.35157	D	0.770286	D;D;D;D	0.71674	0.996;0.998;0.996;0.996	P;D;D;P	0.64776	0.885;0.929;0.921;0.885	T	0.01039	-1.1472	10	0.72032	D	0.01	-6.0374	18.5477	0.91053	0.0:1.0:0.0:0.0	.	690;603;690;690	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	F	690;640;603	ENSP00000358955:S690F;ENSP00000393964:S640F;ENSP00000434595:S603F	ENSP00000358955:S690F	S	+	2	0	KIAA1324	109538687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.392000	0.52537	2.678000	0.91216	0.591000	0.81541	TCC		0.493	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
CEP170	9859	broad.mit.edu	37	1	243332957	243332957	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:243332957A>G	ENST00000366542.1	-	12	1867	c.1816T>C	c.(1816-1818)Ttt>Ctt	p.F606L	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.F508L|CEP170_ENST00000366544.1_Missense_Mutation_p.F508L|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	606						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GGTGCAGAAAATTCCATTATC	0.398																																						uc021plo.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(1816-1818)Ttt>Ctt		Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.							11.0	12.0	12.0					1																	243332957		1786	4048	5834	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243332957A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1816T>C	1.37:g.243332957A>G	ENSP00000355500:p.Phe606Leu					CEP170_uc021plp.1_Missense_Mutation_p.F508L|CEP170_uc021plq.1_Missense_Mutation_p.F508L	p.F606L	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		11	2224	-	all_neural(11;0.101)	all_cancers(173;0.003)	606					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1816T>C	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.944|0.944	-0.708640|-0.708640	0.03230|0.03230	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000522895	T;T;T|.	0.39406|.	1.08;1.1;1.1|.	4.66|4.66	3.53|3.53	0.40419|0.40419	.|.	0.835549|.	0.10796|.	N|.	0.633204|.	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.04508|0.04508	-0.205|-0.205	0.43642|0.43642	D|D	0.996049|0.996049	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.03795|0.03795	-1.1003|-1.1003	10|5	0.24483|.	T|.	0.36|.	-0.0526|-0.0526	4.9705|4.9705	0.14113|0.14113	0.7515:0.0:0.0873:0.1612|0.7515:0.0:0.0873:0.1612	.|.	508;508;606|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	L|T	606;508;508|134	ENSP00000355500:F606L;ENSP00000355502:F508L;ENSP00000355501:F508L|.	ENSP00000355500:F606L|.	F|I	-|-	1|2	0|0	CEP170|CEP170	241399580|241399580	0.311000|0.311000	0.24536|0.24536	0.977000|0.977000	0.42913|0.42913	0.654000|0.654000	0.38779|0.38779	0.876000|0.876000	0.28092|0.28092	0.649000|0.649000	0.30751|0.30751	0.397000|0.397000	0.26171|0.26171	TTT|ATT		0.398	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
OGDHL	55753	broad.mit.edu	37	10	50955213	50955213	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:50955213C>G	ENST00000374103.4	-	9	1114	c.1029G>C	c.(1027-1029)gaG>gaC	p.E343D	OGDHL_ENST00000432695.1_Missense_Mutation_p.E134D|OGDHL_ENST00000419399.1_Missense_Mutation_p.E286D	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	343					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.E343E(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTTGATCCTCTCATGGTACA	0.587																																						uc009xog.3																			1	Substitution - coding silent(1)	p.E343E(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1108-1110)gaG>gaC		Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							271.0	225.0	240.0					10																	50955213		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50955213C>G	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1029G>C	10.37:g.50955213C>G	ENSP00000363216:p.Glu343Asp					OGDHL_uc001jie.3_Missense_Mutation_p.E343D|OGDHL_uc010qgt.2_Missense_Mutation_p.E286D|OGDHL_uc010qgu.2_Missense_Mutation_p.E134D|OGDHL_uc009xoh.2_Missense_Mutation_p.E134D	p.E370D	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN			7	1144	-			343					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1110G>C	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	5.063	0.197360	0.09599	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95853	-3.83;-3.83;-3.83	5.79	4.89	0.63831	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.87613	0.6221	N	0.11154	0.105	0.50467	D	0.999878	B;B;B	0.14438	0.008;0.004;0.01	B;B;B	0.26693	0.017;0.012;0.072	T	0.80747	-0.1244	10	0.02654	T	1	.	11.1457	0.48430	0.0:0.8591:0.0:0.1409	.	286;134;343	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	D	343;286;134	ENSP00000363216:E343D;ENSP00000401356:E286D;ENSP00000390240:E134D	ENSP00000363216:E343D	E	-	3	2	OGDHL	50625219	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.232000	0.32636	1.457000	0.47850	-0.137000	0.14449	GAG		0.587	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	
ENTPD1	953	broad.mit.edu	37	10	97607463	97607463	+	Splice_Site	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:97607463G>A	ENST00000371205.4	+	7	1357	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	ENTPD1_ENST00000371207.3_Splice_Site_p.G370G|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Splice_Site_p.G365G|ENTPD1_ENST00000539125.1_Splice_Site_p.G220G|ENTPD1_ENST00000371203.5_Splice_Site_p.G220G|ENTPD1_ENST00000543964.1_Splice_Site_p.G250G			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	358					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGGATTTTGGGGTAAGTTTGT	0.408																																						uc010qoj.2																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.e7+1		Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.							77.0	78.0	78.0					10																	97607463		2203	4300	6503	SO:0001630	splice_region_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97607463G>A	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1074+1G>A	10.37:g.97607463G>A						ENTPD1_uc001kli.4_Splice_Site_p.G365_splice|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Splice_Site_p.G250_splice|ENTPD1_uc010qol.2_Splice_Site_p.G250_splice|ENTPD1_uc001klh.4_Splice_Site_p.G358_splice|ENTPD1_uc010qom.2_Splice_Site_p.G317_splice|ENTPD1_uc010qon.2_Splice_Site_p.G220_splice|ENTPD1_uc009xva.3_Splice_Site_p.G220_splice	p.G370_splice	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	7	1173	+		Colorectal(252;0.0821)	358					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	c.1110_splice	CCDS7444.1																																																																																				0.408	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776	Silent
ACADSB	36	broad.mit.edu	37	10	124813243	124813243	+	Silent	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:124813243T>C	ENST00000358776.4	+	11	1275	c.1261T>C	c.(1261-1263)Ttg>Ctg	p.L421L	ACADSB_ENST00000368869.4_Silent_p.L319L	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	421					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	CAACATCCAGTTGAACACCAT	0.433																																						uc001lhb.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1261-1263)Ttg>Ctg		Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	L-Isoleucine(DB00167)						159.0	141.0	147.0					10																	124813243		2203	4300	6503	SO:0001819	synonymous_variant	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124813243T>C	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.1261T>C	10.37:g.124813243T>C						ACADSB_uc010qub.2_Silent_p.L319L	p.L421L	NM_001609	NP_001600	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	10	1378	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	421					B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	ENST00000358776.4	37	c.1261T>C	CCDS7634.1																																																																																				0.433	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609	
MMP26	56547	broad.mit.edu	37	11	5012728	5012728	+	Splice_Site	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr11:5012728T>C	ENST00000380390.1	+	5	811		c.e5+2		MMP26_ENST00000300762.1_Splice_Site			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CAGACACTGGTAAATGCCTTG	0.483																																						uc001lzv.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.e4+2		Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.							109.0	106.0	107.0					11																	5012728		2201	4298	6499	SO:0001630	splice_region_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5012728T>C	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.595+2T>C	11.37:g.5012728T>C							p.G199_splice	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	613	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	199					Q3MJ78|Q9GZS2|Q9NR87	Splice_Site	SNP	ENST00000380390.1	37	c.595_splice	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075326	0.36662	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9902	0.36019	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MMP26	4969304	0.952000	0.32445	0.774000	0.31636	0.149000	0.21700	0.553000	0.23391	1.365000	0.46057	0.533000	0.62120	.		0.483	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801	Intron
GTF2H1	2965	broad.mit.edu	37	11	18369162	18369162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr11:18369162delG	ENST00000265963.4	+	8	1025	c.865delG	c.(865-867)gctfs	p.A289fs	GTF2H1_ENST00000534641.1_Frame_Shift_Del_p.A173fs|GTF2H1_ENST00000453096.2_Frame_Shift_Del_p.A289fs|GTF2H1_ENST00000524753.4_Frame_Shift_Del_p.A85fs|GTF2H1_ENST00000530496.2_5'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	289					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TGTGCCATCTGCTTCCAATTC	0.373								Nucleotide excision repair (NER)																														uc001moi.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(865-867)gctfs	Nucleotide excision repair (NER)	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.							52.0	50.0	51.0					11																	18369162		2199	4293	6492	SO:0001589	frameshift_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18369162delG		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.865delG	11.37:g.18369162delG	ENSP00000265963:p.Ala289fs					GTF2H1_uc001moh.2_Frame_Shift_Del_p.A289fs|GTF2H1_uc009yhm.2_Frame_Shift_Del_p.A173fs	p.A289fs	NM_001142307	NP_005307	P32780	TF2H1_HUMAN			8	1559	+			289					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Frame_Shift_Del	DEL	ENST00000265963.4	37	c.865delG	CCDS7838.1																																																																																				0.373	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316	
DDN	23109	broad.mit.edu	37	12	49391285	49391285	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:49391285C>T	ENST00000421952.2	-	2	1395	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	458	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCACTACGCACGTGGCGTCAA	0.642																																						uc001rsv.1																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1372-1374)acG>acA		Homo sapiens dendrin (DDN), mRNA.							66.0	65.0	66.0					12																	49391285		2203	4300	6503	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391285C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1374G>A	12.37:g.49391285C>T							p.T458T	NM_015086	NP_055901	O94850	DEND_HUMAN			1	1392	-			458			Interaction with CD2AP and NPHS1 (By similarity).			Silent	SNP	ENST00000421952.2	37	c.1374G>A	CCDS31791.2																																																																																				0.642	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1		
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A	rs199863727	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.Y143fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.I159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.Y221fs	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351																																						uc009zqr.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.(661-663)tatfs		Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.																																				SO:0001589	frameshift_variant	51643					integral to membrane	protein binding	g.chr12:66531936_66531937insA	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.521dupT	12.37:g.66531946_66531946dupA	ENSP00000350965:p.Tyr174fs					LLPH_uc010ssx.2_Intron|TMBIM4_uc001stc.3_Frame_Shift_Ins_p.Y174fs|TMBIM4_uc001std.3_Frame_Shift_Ins_p.Y143fs|TMBIM4_uc001stf.3_Frame_Shift_Ins_p.L162fs|TMBIM4_uc009zqs.3_Frame_Shift_Ins_p.F158fs	p.Y221fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	737_738	-			174					Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Ins	INS	ENST00000358230.3	37	c.661_662insT	CCDS41805.1																																																																																				0.351	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056	
TSPAN19	144448	broad.mit.edu	37	12	85411285	85411285	+	Missense_Mutation	SNP	T	T	A	rs376490751		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:85411285T>A	ENST00000532498.2	-	7	624	c.544A>T	c.(544-546)Act>Tct	p.T182S	TSPAN19_ENST00000547403.2_5'Flank	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	182						integral component of membrane (GO:0016021)				ovary(1)	1						TTTCTTAAAGTTGACTTTGTG	0.343																																						uc009zsj.3																			0				ovary(1)	1						c.(544-546)Act>Tct		Homo sapiens tetraspanin 19 (TSPAN19), mRNA.							93.0	87.0	89.0					12																	85411285		1842	4099	5941	SO:0001583	missense	144448					integral to membrane		g.chr12:85411285T>A		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.544A>T	12.37:g.85411285T>A	ENSP00000433816:p.Thr182Ser						p.T182S	NM_001100917	NP_001094387	P0C672	TSN19_HUMAN			6	645	-			182						Missense_Mutation	SNP	ENST00000532498.2	37	c.544A>T	CCDS44949.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.750|0.750	-0.773163|-0.773163	0.02951|0.02951	.|.	.|.	ENSG00000231738|ENSG00000231738	ENST00000525452|ENST00000532498	.|T	.|0.78707	.|-1.2	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Tetraspanin, EC2 domain (1);	.|.	.|.	.|.	.|.	T|T	0.74520|0.74520	0.3727|0.3727	L|L	0.27053|0.27053	0.805|0.805	0.25640|0.25640	N|N	0.98621|0.98621	.|P	.|0.51240	.|0.943	.|P	.|0.59115	.|0.852	T|T	0.61594|0.61594	-0.7031|-0.7031	5|9	.|0.06757	.|T	.|0.87	.|.	11.3129|11.3129	0.49375|0.49375	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|182	.|P0C672	.|TSN19_HUMAN	H|S	30|182	.|ENSP00000433816:T182S	.|ENSP00000433816:T182S	Q|T	-|-	3|1	2|0	TSPAN19|TSPAN19	83935416|83935416	0.998000|0.998000	0.40836|0.40836	0.846000|0.846000	0.33378|0.33378	0.002000|0.002000	0.02628|0.02628	2.149000|2.149000	0.42244|0.42244	2.105000|2.105000	0.64084|0.64084	0.524000|0.524000	0.50904|0.50904	CAA|ACT		0.343	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917	
HCAR3	8843	broad.mit.edu	37	12	123200903	123200903	+	Missense_Mutation	SNP	G	G	A	rs371876470		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:123200903G>A	ENST00000528880.2	-	1	536	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	128					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	TGGACCACCCGGAAATACCTG	0.562																																						uc001ucy.4																			0		p.R128L(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(382-384)Cgg>Tgg		Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	Mepenzolate(DB04843)|Niacin(DB00627)	T	TRP/ARG	0,4406		0,0,2203	92.0	91.0	91.0		382	-5.0	1.0	12		91	2,8598	2.2+/-6.3	0,2,4298	no	missense	HCAR3	NM_006018.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	128/388	123200903	2,13004	2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200903G>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.382C>T	12.37:g.123200903G>A	ENSP00000436714:p.Arg128Trp					HCAR1_uc001ucw.1_Intron	p.R128W	NM_006018	NP_006009	P49019	HCAR3_HUMAN			0	537	-			128					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.382C>T	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	g	15.37	2.812802	0.50527	0.0	2.33E-4	ENSG00000255398	ENST00000528880	T	0.37235	1.21	3.27	-5.0	0.03001	.	.	.	.	.	T	0.50650	0.1628	M	0.71581	2.175	0.20074	N	0.999936	D	0.89917	1.0	D	0.81914	0.995	T	0.50189	-0.8857	9	0.87932	D	0	.	7.4384	0.27169	0.0967:0.0:0.2888:0.6145	.	128	E9PI97	.	W	128	ENSP00000436714:R128W	ENSP00000436714:R128W	R	-	1	2	HCAR3	121766856	0.001000	0.12720	0.971000	0.41717	0.067000	0.16453	-0.138000	0.10374	-0.781000	0.04548	-1.123000	0.02005	CGG		0.562	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018	
TRPC4	7223	broad.mit.edu	37	13	38320377	38320377	+	Silent	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr13:38320377G>A	ENST00000379705.3	-	3	1451	c.594C>T	c.(592-594)aaC>aaT	p.N198N	TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000358477.2_Silent_p.N198N|TRPC4_ENST00000355779.2_Silent_p.N198N|TRPC4_ENST00000426868.2_Silent_p.N198N|TRPC4_ENST00000447043.1_Silent_p.N198N|TRPC4_ENST00000379673.2_Silent_p.N198N|TRPC4_ENST00000379681.3_Silent_p.N198N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	198					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTTGTAGATGTTGAGTCTGG	0.532																																						uc010abx.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(592-594)aaC>aaT		Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.							99.0	86.0	90.0					13																	38320377		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320377G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.594C>T	13.37:g.38320377G>A						TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.N198N|TRPC4_uc001uws.3_Silent_p.N198N|TRPC4_uc010tey.2_Silent_p.N198N|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Silent_p.N198N	p.N198N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	829	-			198					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.594C>T	CCDS9365.1																																																																																				0.532	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
CDH24	64403	broad.mit.edu	37	14	23524268	23524268	+	Splice_Site	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr14:23524268C>T	ENST00000267383.5	-	2	588	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	CDH24_ENST00000554034.1_Splice_Site_p.G166R|CDH24_ENST00000487137.2_Splice_Site_p.G166R|CDH24_ENST00000397359.3_Splice_Site_p.G166R			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	166	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTGCTCACCGACATTGGAC	0.552											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wil.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.e3+1		Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.							80.0	85.0	84.0					14																	23524268		2203	4300	6503	SO:0001630	splice_region_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23524268C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.496+1G>A	14.37:g.23524268C>T			OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_uc010akf.3_Splice_Site_p.G166_splice|CDH24_uc001win.3_Splice_Site_p.G166_splice	p.G166_splice	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	756	-	all_cancers(95;3.3e-05)		166			Cadherin 2.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.496_splice	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975854	0.53720	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	3.86	3.86	0.44501	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;1.0	D	0.92170	0.5743	9	.	.	.	.	15.0822	0.72122	0.0:1.0:0.0:0.0	.	166;166;166	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	R	166	ENSP00000380517:G166R;ENSP00000434821:G166R;ENSP00000452493:G166R;ENSP00000267383:G166R	.	G	-	1	0	CDH24	22594108	1.000000	0.71417	0.925000	0.36789	0.364000	0.29643	5.873000	0.69644	2.168000	0.68352	0.561000	0.74099	GGG		0.552	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478	Missense_Mutation
ZNF710	374655	broad.mit.edu	37	15	90610834	90610834	+	Silent	SNP	C	C	T	rs552089563		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr15:90610834C>T	ENST00000268154.4	+	2	716	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGAGCAGCGCCGTCAAGATGA	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		10939	0.001		0.0	False		,,,				2504	0.0					uc002bov.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(463-465)gcC>gcT		Homo sapiens zinc finger protein 710 (ZNF710), mRNA.							35.0	39.0	37.0					15																	90610834		2195	4291	6486	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90610834C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.465C>T	15.37:g.90610834C>T							p.A155A	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		1	588	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		155					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.465C>T	CCDS10358.1																																																																																				0.687	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526	
WDR90	197335	broad.mit.edu	37	16	703624	703624	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:703624T>G	ENST00000293879.4	+	12	1333	c.1333T>G	c.(1333-1335)Tgc>Ggc	p.C445G	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.C445G			Q96KV7	WDR90_HUMAN	WD repeat domain 90	445										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GACCGGGCGGTGCTTGTGCCT	0.657																																						uc002cii.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1333-1335)Tgc>Ggc		Homo sapiens WD repeat domain 90 (WDR90), mRNA.							58.0	64.0	62.0					16																	703624		2045	4186	6231	SO:0001583	missense	197335							g.chr16:703624T>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1333T>G	16.37:g.703624T>G	ENSP00000293879:p.Cys445Gly					WDR90_uc002cig.1_Missense_Mutation_p.C445G|WDR90_uc002cih.1_Missense_Mutation_p.C446G|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	p.C445G	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			11	1387	+		Hepatocellular(780;0.0218)	445					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1333T>G	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.740514	0.49045	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01335	5.0;5.0	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000001	T	0.12220	0.0297	H	0.94385	3.53	0.80722	D	1	D;D;P	0.89917	0.993;1.0;0.946	D;D;P	0.85130	0.973;0.997;0.876	T	0.04467	-1.0949	10	0.36615	T	0.2	.	13.4206	0.60996	0.0:0.0:0.0:1.0	.	445;446;445	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	G	445	ENSP00000448122:C445G;ENSP00000293879:C445G	ENSP00000293879:C445G	C	+	1	0	WDR90	643625	1.000000	0.71417	0.335000	0.25508	0.005000	0.04900	7.555000	0.82223	1.770000	0.52166	0.459000	0.35465	TGC		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	
IGFALS	3483	broad.mit.edu	37	16	1842222	1842222	+	Missense_Mutation	SNP	G	G	A	rs145465654		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:1842222G>A	ENST00000215539.3	-	2	307	c.197C>T	c.(196-198)aCg>aTg	p.T66M	IGFALS_ENST00000568221.1_Missense_Mutation_p.R77C|IGFALS_ENST00000415638.3_Missense_Mutation_p.T104M			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	66	LRRNT.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGCAGGCGCGTGAGGTTCCT	0.692																																						uc010uvn.2																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(310-312)aCg>aTg		Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.							29.0	30.0	29.0					16																	1842222		2197	4300	6497	SO:0001583	missense	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1842222G>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.197C>T	16.37:g.1842222G>A	ENSP00000215539:p.Thr66Met					IGFALS_uc002cmy.3_Missense_Mutation_p.T66M|IGFALS_uc010uvo.2_5'UTR	p.T104M	NM_001146006	NP_001139478	P35858	ALS_HUMAN			1	392	-			66					B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.311C>T	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298070	0.23650	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	D;D	0.97553	-4.43;-4.43	5.33	2.01	0.26516	Leucine-rich repeat-containing N-terminal (2);	0.057866	0.64402	D	0.000002	D	0.94381	0.8193	L	0.60845	1.875	0.33621	D	0.604799	P;P	0.43431	0.807;0.649	B;B	0.38954	0.197;0.286	D	0.93949	0.7230	10	0.62326	D	0.03	.	9.1409	0.36903	0.0783:0.2761:0.6457:0.0	.	104;66	E9PGU3;P35858	.;ALS_HUMAN	M	66;104	ENSP00000215539:T66M;ENSP00000416683:T104M	ENSP00000215539:T66M	T	-	2	0	IGFALS	1782223	1.000000	0.71417	0.581000	0.28614	0.009000	0.06853	3.870000	0.56070	0.591000	0.29711	-0.272000	0.10252	ACG		0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2		
RBFOX1	54715	broad.mit.edu	37	16	7568147	7568148	+	Splice_Site	INS	-	-	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:7568147_7568148insG	ENST00000550418.1	+	5	1015		c.e5-1		RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000340209.4_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGATTTTTCAGGGTAATCAGG	0.574																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.e5-1		Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.																																				SO:0001630	splice_region_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568147_7568148insG	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.28-1->G	16.37:g.7568150_7568150dupG						RBFOX1_uc010buf.1_Splice_Site_p.G10_splice|RBFOX1_uc002cyr.1_Splice_Site_p.G10_splice|RBFOX1_uc002cyt.2_Splice_Site_p.G10_splice|RBFOX1_uc010uxz.1_Splice_Site_p.G53_splice|RBFOX1_uc010uya.1_Splice_Site_p.G46_splice|RBFOX1_uc002cyv.1_Splice_Site_p.G10_splice|RBFOX1_uc010uyb.1_Splice_Site_p.G10_splice|RBFOX1_uc002cyw.2_Splice_Site_p.G30_splice|RBFOX1_uc002cyy.2_Splice_Site_p.G30_splice|RBFOX1_uc002cyx.2_Splice_Site_p.G30_splice|RBFOX1_uc010uyc.1_Splice_Site_p.G30_splice	p.G10_splice	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN			5	1016	+			10					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Splice_Site	INS	ENST00000550418.1	37	c.28_splice	CCDS55983.1																																																																																				0.574	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	Intron
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						uc010vbl.1																			0											c.(106-108)Ctg>Ttg		Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																																						730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A						LOC23117_uc021tel.1_Intron	p.L36L							6	603	-								A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37	c.106C>T																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370	
TP53	7157	broad.mit.edu	37	17	7577096	7577097	+	Missense_Mutation	DNP	TC	TC	GG	rs587781525		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:7577096_7577097TC>GG	ENST00000269305.4	-	8	1030_1031	c.841_842GA>CC	c.(841-843)GAc>CCc	p.D281P	TP53_ENST00000359597.4_Missense_Mutation_p.D281P|TP53_ENST00000455263.2_Missense_Mutation_p.D281P|TP53_ENST00000445888.2_Missense_Mutation_p.D281P|TP53_ENST00000420246.2_Missense_Mutation_p.D281P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.D281G(10)|p.0?(8)|p.D281V(5)|p.D281fs*63(2)|p.D281>AGPY(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGTGCGCCGGTCTCTCCCAGGA	0.55		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		105	Substitution - Missense(78)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	p.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.D281G(20)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281V(9)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.D281fs*63(4)|p.R280_D281delRD(4)|p.D281A(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(1)	lung(19)|breast(15)|upper_aerodigestive_tract(11)|haematopoietic_and_lymphoid_tissue(11)|large_intestine(8)|urinary_tract(8)|ovary(8)|bone(5)|liver(5)|stomach(4)|central_nervous_system(4)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004343|CM056068|CM076566	TP53	M		c.(841-843)gac>CCc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577096_7577097TC>GG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.841_842delinsGG	17.37:g.7577096_7577097delinsGG	ENSP00000269305:p.Asp281Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149P|TP53_uc010cnf.1_Missense_Mutation_p.D149P|TP53_uc002gii.1_Missense_Mutation_p.D149P|TP53_uc010cni.1_Missense_Mutation_p.D281P|TP53_uc010cnh.1_Missense_Mutation_p.D281P|TP53_uc002gij.2_Missense_Mutation_p.D281P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.D281P	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1035_1036	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	DNP	ENST00000269305.4	37	c.841_842GA>CC	CCDS11118.1																																																																																				0.550	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:21094331_21094333delGAA	ENST00000395511.3	+	7	1163_1165	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del	DHRS7B_ENST00000579303.1_In_Frame_Del_p.K270del|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	285						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507																																						uc002gyo.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.(841-846)gggaag>ggg		Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.																																				SO:0001651	inframe_deletion	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094331_21094333delGAA	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.843_845delGAA	17.37:g.21094340_21094342delGAA	ENSP00000378887:p.Lys285del						p.K285del	NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN			6	887_889	+			285					B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	In_Frame_Del	DEL	ENST00000395511.3	37	c.843_845delGAA	CCDS11215.1																																																																																				0.507	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	
FOXN1	8456	broad.mit.edu	37	17	26851529	26851529	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:26851529C>T	ENST00000226247.2	+	2	161	c.132C>T	c.(130-132)gcC>gcT	p.A44A	FOXN1_ENST00000579795.1_Silent_p.A44A	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	44					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGAAGCATGCCGGCTTCAGCT	0.637																																						uc010crm.3																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(130-132)gcC>gcT		Homo sapiens forkhead box N1 (FOXN1), mRNA.							47.0	53.0	51.0					17																	26851529		2203	4300	6503	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26851529C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.132C>T	17.37:g.26851529C>T						FOXN1_uc002hbj.3_Silent_p.A44A	p.A44A	NM_003593	NP_003584	O15353	FOXN1_HUMAN			2	330	+	Lung NSC(42;0.00431)		44					B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.132C>T	CCDS11232.1																																																																																				0.637	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1		
ANKRD13B	124930	broad.mit.edu	37	17	27939701	27939701	+	Silent	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:27939701G>A	ENST00000394859.3	+	13	1597	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	481						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TCTCCCCAGCGTTGTTCGAGG	0.751																																						uc002hei.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1441-1443)gcG>gcA		Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.							7.0	10.0	9.0					17																	27939701		2143	4219	6362	SO:0001819	synonymous_variant	124930							g.chr17:27939701G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1443G>A	17.37:g.27939701G>A						ANKRD13B_uc002heh.3_Silent_p.A349A|ANKRD13B_uc002hej.3_Non-coding_Transcript	p.A481A	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN			12	1556	+			481					Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.1443G>A	CCDS11251.1																																																																																				0.751	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345	
RBFA	79863	broad.mit.edu	37	18	77794598	77794598	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr18:77794598C>T	ENST00000306735.5	+	1	241	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	RP11-795F19.5_ENST00000569722.1_Missense_Mutation_p.H35Y|RBFA_ENST00000262197.7_Missense_Mutation_p.H35Y|TXNL4A_ENST00000585474.1_5'Flank|RBFA_ENST00000586847.1_3'UTR|TXNL4A_ENST00000589926.1_5'Flank|TXNL4A_ENST00000592957.1_5'Flank	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	35					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GCGGGGACTTCACTGCTCTGC	0.662																																						uc002lns.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(103-105)Cac>Tac		Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							28.0	32.0	31.0					18																	77794598		2203	4299	6502	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77794598C>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.103C>T	18.37:g.77794598C>T	ENSP00000305696:p.His35Tyr					TXNL4A_uc010drg.3_5'Flank|RBFA_uc010drh.3_Missense_Mutation_p.H35Y|RBFA_uc010dri.2_Non-coding_Transcript	p.H35Y	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN			0	253	+			35					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.103C>T	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	c	16.89	3.246787	0.59103	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.56941	0.43;1.41	2.88	2.88	0.33553	.	0.318671	0.22352	U	0.061191	T	0.56717	0.2004	L	0.49126	1.545	0.09310	N	1	D;D	0.67145	0.978;0.996	P;P	0.56216	0.629;0.794	T	0.47947	-0.9077	10	0.72032	D	0.01	-10.77	9.3569	0.38173	0.0:1.0:0.0:0.0	.	35;35	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	Y	35	ENSP00000262197:H35Y;ENSP00000305696:H35Y	ENSP00000262197:H35Y	H	+	1	0	RBFA	75895586	0.976000	0.34144	0.019000	0.16419	0.012000	0.07955	1.336000	0.33850	1.614000	0.50241	0.556000	0.70494	CAC		0.662	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805	
MAST1	22983	broad.mit.edu	37	19	12977473	12977473	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:12977473C>T	ENST00000251472.4	+	18	2075	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGCCCGCTCAGACAGGTAT	0.597																																						uc002mvm.3																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2035-2037)tCa>tTa		Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.							52.0	42.0	45.0					19																	12977473		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12977473C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2036C>T	19.37:g.12977473C>T	ENSP00000251472:p.Ser679Leu						p.S679L	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			17	2164	+			679			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000251472.4	37	c.2036C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423539	0.96111	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.23754	1.89	4.85	4.85	0.62838	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.40094	0.1103	M	0.77486	2.375	0.58432	D	0.999997	P	0.48230	0.907	P	0.47402	0.546	T	0.43147	-0.9409	10	0.56958	D	0.05	-14.6741	15.8252	0.78698	0.0:1.0:0.0:0.0	.	679	Q9Y2H9	MAST1_HUMAN	L	679	ENSP00000251472:S679L	ENSP00000251472:S679L	S	+	2	0	MAST1	12838473	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.747000	0.85070	2.410000	0.81850	0.563000	0.77884	TCA		0.597	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	
CYP4F8	11283	broad.mit.edu	37	19	15734860	15734860	+	RNA	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:15734860G>A	ENST00000441682.2	+	0	1132							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCGGCAGGAGGTGCAAGAGC	0.582																																						uc002nbi.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						c.(1066-1068)gaG>gaA		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.							78.0	68.0	71.0					19																	15734860		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15734860G>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15734860G>A						CYP4F8_uc010xoj.2_Silent_p.E169E	p.E356E	NM_007253	NP_009184	P98187	CP4F8_HUMAN			9	1132	+			357						Silent	SNP	ENST00000441682.2	37	c.1068G>A																																																																																					0.582	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253	
PSG6	5675	broad.mit.edu	37	19	43420415	43420415	+	Nonsense_Mutation	SNP	G	G	A	rs112289603	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:43420415G>A	ENST00000292125.2	-	2	333	c.289C>T	c.(289-291)Cga>Tga	p.R97*	PSG6_ENST00000187910.2_Nonsense_Mutation_p.R97*|PSG6_ENST00000601833.1_Nonsense_Mutation_p.R26*|PSG6_ENST00000402603.4_Nonsense_Mutation_p.R97*	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	97	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACTGTTTCTCGTCCACTGTAG	0.458													.|||	2	0.000399361	0.0	0.0	5008	,	,		21823	0.0		0.001	False		,,,				2504	0.001					uc002ovj.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(289-291)Cga>Tga		Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.		G	stop/ARG,stop/ARG	2,4400		0,2,2199	368.0	332.0	344.0		289,289	-0.7	0.0	19	dbSNP_132	344	10,8588		0,10,4289	yes	stop-gained,stop-gained	PSG6	NM_001031850.2,NM_002782.3	,	0,12,6488	AA,AG,GG		0.1163,0.0454,0.0923	,	97/425,97/436	43420415	12,12988	2201	4299	6500	SO:0001587	stop_gained	5675				defense response|female pregnancy	extracellular region		g.chr19:43420415G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.289C>T	19.37:g.43420415G>A	ENSP00000292125:p.Arg97*					PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Nonsense_Mutation_p.R97*	p.R97*	NM_002782	NP_002773	Q00888	PSG4_HUMAN			1	388	-		Prostate(69;0.00682)	98			Ig-like V-type.		O75244|Q15224|Q15235|Q549K1	Nonsense_Mutation	SNP	ENST00000292125.2	37	c.289C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	15.01	2.705594	0.48412	4.54E-4	0.001163	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	.	.	.	2.24	-0.665	0.11403	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6232	0.22814	0.0:0.0:0.4745:0.5255	.	.	.	.	X	97	.	ENSP00000187910:R97X	R	-	1	2	PSG6	48112255	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.184000	0.09698	-0.242000	0.09667	0.194000	0.17425	CGA		0.458	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782	
DKKL1	27120	broad.mit.edu	37	19	49867855	49867855	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:49867855C>T	ENST00000221498.2	+	2	432	c.27C>T	c.(25-27)ccC>ccT	p.P9P	TEAD2_ENST00000593945.1_5'Flank|TEAD2_ENST00000539846.1_5'Flank|TEAD2_ENST00000311227.2_5'Flank|TEAD2_ENST00000601519.1_5'Flank|DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	9					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CACCTGCCCCCGCAAGGCGGC	0.677																																						uc002pnk.3																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(25-27)ccC>ccT		Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.							36.0	32.0	33.0					19																	49867855		2203	4300	6503	SO:0001819	synonymous_variant	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49867855C>T	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.27C>T	19.37:g.49867855C>T						TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Silent_p.P9P	p.P9P	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	1	241	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	9						Silent	SNP	ENST00000221498.2	37	c.27C>T	CCDS12762.1																																																																																				0.677	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419	
SERTAD2	9792	broad.mit.edu	37	2	64863336	64863336	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:64863336A>T	ENST00000313349.3	-	2	967	c.670T>A	c.(670-672)Tct>Act	p.S224T	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	224					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CCAGGCAGAGAGTCCATCAGT	0.527																																						uc021viq.1																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(670-672)Tct>Act		Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.							85.0	83.0	83.0					2																	64863336		2203	4300	6503	SO:0001583	missense	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863336A>T	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.670T>A	2.37:g.64863336A>T	ENSP00000326933:p.Ser224Thr					SERTAD2_uc002sde.2_Missense_Mutation_p.S224T	p.S224T	NM_014755	NP_055570	Q14140	SRTD2_HUMAN			0	670	-			224					Q53TS2	Missense_Mutation	SNP	ENST00000313349.3	37	c.670T>A	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	A	6.108	0.388181	0.11581	.	.	ENSG00000179833	ENST00000313349	.	.	.	6.08	4.92	0.64577	.	0.329374	0.37261	N	0.002180	T	0.43590	0.1254	L	0.42245	1.32	0.37891	D	0.93071	B	0.12630	0.006	B	0.11329	0.006	T	0.34129	-0.9841	9	0.06236	T	0.91	-0.0859	9.862	0.41120	0.8529:0.0:0.1471:0.0	.	224	Q14140	SRTD2_HUMAN	T	224	.	ENSP00000326933:S224T	S	-	1	0	SERTAD2	64716840	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.177000	0.31969	1.116000	0.41820	0.533000	0.62120	TCT		0.527	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755	
TTC31	64427	broad.mit.edu	37	2	74718780	74718780	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:74718780A>T	ENST00000233623.5	+	8	864	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_Missense_Mutation_p.Q286L	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	286										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAGAGGCCCCAGCAGAGTCCA	0.597																																						uc002slt.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(856-858)cAg>cTg		Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.							43.0	46.0	45.0					2																	74718780		1883	4112	5995	SO:0001583	missense	64427						binding	g.chr2:74718780A>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.857A>T	2.37:g.74718780A>T	ENSP00000233623:p.Gln286Leu					TTC31_uc002sls.2_Missense_Mutation_p.Q215L|TTC31_uc002slu.2_Missense_Mutation_p.Q142L	p.Q286L	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN			7	880	+			286					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.857A>T	CCDS42701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.958|8.958	0.969847|0.969847	0.18659|0.18659	.|.	.|.	ENSG00000115282|ENSG00000115282	ENST00000545977;ENST00000410003;ENST00000233623|ENST00000414247	T;T|.	0.58940|.	1.46;0.3|.	3.76|3.76	1.83|1.83	0.25207|0.25207	.|.	0.561009|.	0.14872|.	N|.	0.293477|.	T|T	0.29093|0.29093	0.0723|0.0723	N|N	0.08118|0.08118	0|0	0.43531|0.43531	D|D	0.995818|0.995818	B;B;B|.	0.13145|.	0.004;0.001;0.007|.	B;B;B|.	0.09377|.	0.002;0.002;0.004|.	T|T	0.03095|0.03095	-1.1073|-1.1073	10|5	0.33141|.	T|.	0.24|.	.|.	5.8954|5.8954	0.18937|0.18937	0.2438:0.0:0.7562:0.0|0.2438:0.0:0.7562:0.0	.|.	256;286;215|.	Q86XF2;Q49AM3;F5H175|.	.;TTC31_HUMAN;.|.	L|C	215;286;286|24	ENSP00000387213:Q286L;ENSP00000233623:Q286L|.	ENSP00000233623:Q286L|.	Q|S	+|+	2|1	0|0	TTC31|TTC31	74572288|74572288	0.199000|0.199000	0.23386|0.23386	0.673000|0.673000	0.29887|0.29887	0.122000|0.122000	0.20287|0.20287	0.156000|0.156000	0.16382|0.16382	0.561000|0.561000	0.29186|0.29186	-0.337000|-0.337000	0.08149|0.08149	CAG|AGC		0.597	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492	
IL18RAP	8807	broad.mit.edu	37	2	103067331	103067331	+	Missense_Mutation	SNP	G	G	A	rs552650320		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:103067331G>A	ENST00000264260.2	+	11	1823	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V270I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	412	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGATGCTTTCGTATCCTATGC	0.338																																						uc002tbx.3																			0		p.F411F(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1234-1236)Gta>Ata		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							93.0	102.0	99.0					2																	103067331		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103067331G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1234G>A	2.37:g.103067331G>A	ENSP00000264260:p.Val412Ile					IL18RAP_uc010fiz.3_Missense_Mutation_p.V270I	p.V412I	NM_003853	NP_003844	O95256	I18RA_HUMAN			10	1718	+			412			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1234G>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	9.096	1.002940	0.19121	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.01933	4.55;4.55	5.72	0.711	0.18162	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.704843	0.13115	N	0.412675	T	0.01976	0.0062	L	0.29908	0.895	0.31196	N	0.700381	P	0.38504	0.634	B	0.35312	0.2	T	0.45877	-0.9231	10	0.26408	T	0.33	.	9.9942	0.41889	0.3409:0.0:0.6591:0.0	.	412	O95256	I18RA_HUMAN	I	412;270	ENSP00000264260:V412I;ENSP00000387201:V270I	ENSP00000264260:V412I	V	+	1	0	IL18RAP	102433763	0.715000	0.27946	0.077000	0.20336	0.196000	0.23810	0.836000	0.27545	-0.156000	0.11079	-0.345000	0.07892	GTA		0.338	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																						uc010yxx.1																			0											c.(382-384)Tag>Cag		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							2	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
ZNF385B	151126	broad.mit.edu	37	2	180634432	180634432	+	Silent	SNP	G	G	A	rs61747266	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:180634432G>A	ENST00000410066.1	-	3	654	c.51C>T	c.(49-51)aaC>aaT	p.N17N		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	17	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CAGGCCTGTCGTTCTTTATCC	0.463													G|||	15	0.00299521	0.0113	0.0	5008	,	,		17572	0.0		0.0	False		,,,				2504	0.0				Colon(155;204 2491 32774 51842)	uc002unn.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(49-51)aaC>aaT		Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.		G		45,4361	47.5+/-82.1	0,45,2158	73.0	75.0	74.0		51	-3.9	0.3	2	dbSNP_129	74	0,8600		0,0,4300	no	coding-synonymous	ZNF385B	NM_152520.4		0,45,6458	AA,AG,GG		0.0,1.0213,0.346		17/472	180634432	45,12961	2203	4300	6503	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180634432G>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.51C>T	2.37:g.180634432G>A							p.N17N	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		2	655	-			17					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.51C>T	CCDS33339.1																																																																																				0.463	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520	
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
IRS1	3667	broad.mit.edu	37	2	227661259	227661259	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:227661259G>C	ENST00000305123.5	-	1	3216	c.2196C>G	c.(2194-2196)taC>taG	p.Y732*	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	732					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACATGTTCATGTAGTCACCTG	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021vxn.1																			0		p.D731E(1)|p.D731G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2194-2196)taC>taG		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							139.0	145.0	143.0					2																	227661259		2203	4300	6503	SO:0001587	stop_gained	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661259G>C		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2196C>G	2.37:g.227661259G>C	ENSP00000304895:p.Tyr732*		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321	IRS1_uc002voh.4_Nonsense_Mutation_p.Y732*	p.Y732*	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	2196	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	732						Nonsense_Mutation	SNP	ENST00000305123.5	37	c.2196C>G	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	48	14.823633	0.99811	.	.	ENSG00000169047	ENST00000305123	.	.	.	4.85	3.86	0.44501	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.6622	10.1884	0.43011	0.1903:0.0:0.8097:0.0	.	.	.	.	X	732	.	ENSP00000304895:Y732X	Y	-	3	2	IRS1	227369503	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.007000	0.49536	1.090000	0.41315	0.561000	0.74099	TAC		0.597	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						uc010ztl.1																			0		p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(190-192)Gca>Aca		Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.																																				SO:0001583	missense	284802							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A16T	p.A64T							2	222	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.190G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
APOBEC3G	60489	broad.mit.edu	37	22	39479797	39479797	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr22:39479797C>T	ENST00000407997.3	+	5	1000	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R215W	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	215	Interaction with DNA. {ECO:0000305}.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GGTCAGAGGACGGCATGAGAC	0.522																																						uc021wpr.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(643-645)Cgg>Tgg		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.							128.0	106.0	114.0					22																	39479797		2203	4300	6503	SO:0001583	missense	60489				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39479797C>T	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.643C>T	22.37:g.39479797C>T	ENSP00000385057:p.Arg215Trp					APOBEC3F_uc003awx.3_Missense_Mutation_p.R215W|APOBEC3F_uc003awy.3_Missense_Mutation_p.R148W	p.R215W	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN			4	936	+	Melanoma(58;0.04)		215					B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	c.643C>T	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	8.882	0.951829	0.18431	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.74421	-0.84;-0.84	1.7	0.595	0.17490	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.81380	0.4810	M	0.70903	2.155	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.68868	-0.5295	9	0.72032	D	0.01	.	7.9953	0.30265	0.0:0.7456:0.2544:0.0	.	215	Q9HC16	ABC3G_HUMAN	W	215	ENSP00000413376:R215W;ENSP00000385057:R215W	ENSP00000385057:R215W	R	+	1	2	APOBEC3G	37809743	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.799000	0.04560	0.249000	0.21456	0.591000	0.81541	CGG		0.522	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822	
RNF123	63891	broad.mit.edu	37	3	49735348	49735348	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:49735348C>T	ENST00000327697.6	+	6	517	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	125	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGGCACCATCCGCTCTACCAC	0.557																																						uc003cxh.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(373-375)Cgc>Tgc		Homo sapiens ring finger protein 123 (RNF123), mRNA.							322.0	283.0	296.0					3																	49735348		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49735348C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.373C>T	3.37:g.49735348C>T	ENSP00000328287:p.Arg125Cys					RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	p.R125C	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	5	459	+			125			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.373C>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264286	0.80358	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.64438	-0.1	5.95	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.163697	0.41712	D	0.000839	T	0.82185	0.4982	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.85421	0.1143	10	0.87932	D	0	-26.426	9.8638	0.41131	0.1466:0.7802:0.0:0.0732	.	125	Q5XPI4	RN123_HUMAN	C	125	ENSP00000328287:R125C	ENSP00000328287:R125C	R	+	1	0	RNF123	49710352	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.445000	0.44899	1.536000	0.49237	0.655000	0.94253	CGC		0.557	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064	
EPHA3	2042	broad.mit.edu	37	3	89462354	89462354	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:89462354T>C	ENST00000336596.2	+	10	2051	c.1826T>C	c.(1825-1827)gTt>gCt	p.V609A	EPHA3_ENST00000494014.1_Missense_Mutation_p.V609A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	609					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCCAAGCTGTTCATGAGTTT	0.423										TSP Lung(6;0.00050)																												uc003dqy.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1825-1827)gTt>gCt		Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.							176.0	156.0	163.0					3																	89462354		2203	4299	6502	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89462354T>C	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1826T>C	3.37:g.89462354T>C	ENSP00000337451:p.Val609Ala	TSP Lung(6;0.00050)				EPHA3_uc021xbf.1_Missense_Mutation_p.V609A	p.V609A	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	9	2051	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	609					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1826T>C	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	31	5.065432	0.93898	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.19938	2.11;2.11	5.95	5.95	0.96441	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.83692	2.655	0.80722	D	1	D	0.60160	0.987	D	0.67900	0.954	T	0.52449	-0.8574	9	.	.	.	.	16.4116	0.83717	0.0:0.0:0.0:1.0	.	609	P29320	EPHA3_HUMAN	A	609	ENSP00000337451:V609A;ENSP00000419190:V609A	.	V	+	2	0	EPHA3	89545044	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.967000	0.87967	2.276000	0.75962	0.528000	0.53228	GTT		0.423	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					uc003fuw.3																			0											c.(583-585)gTg>gAg		Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																																						727956							g.chr3:195410687T>A	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.195410687T>A						SDHAP2_uc003fuv.3_Non-coding_Transcript	p.V195E							12	1778	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.584T>A																																																																																					0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
FRAS1	80144	broad.mit.edu	37	4	79429983	79429983	+	Silent	SNP	C	C	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr4:79429983C>A	ENST00000264895.6	+	63	10043	c.9603C>A	c.(9601-9603)ccC>ccA	p.P3201P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3197					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTCACCCCCTGCGACCCTC	0.567																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(9601-9603)ccC>ccA		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							49.0	53.0	52.0					4																	79429983		2024	4203	6227	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79429983C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9603C>A	4.37:g.79429983C>A						FRAS1_uc003hlc.1_Silent_p.P203P	p.P3201P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			62	10043	+			3196					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.9603C>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	8.114	0.779517	0.16120	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.63	2.55	0.30701	.	.	.	.	.	T	0.54581	0.1867	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47433	-0.9118	4	.	.	.	.	6.2421	0.20797	0.1289:0.5832:0.0:0.2879	.	.	.	.	M	1430	.	.	L	+	1	2	FRAS1	79649007	0.333000	0.24731	1.000000	0.80357	0.794000	0.44872	-0.301000	0.08232	0.744000	0.32741	0.591000	0.81541	CTG		0.567	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
COPS4	51138	broad.mit.edu	37	4	83970319	83970319	+	Splice_Site	SNP	T	T	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr4:83970319T>G	ENST00000264389.2	+	3	290	c.155T>G	c.(154-156)aTg>aGg	p.M52R	COPS4_ENST00000509093.1_Splice_Site_p.M52R|COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000503682.1_Splice_Site_p.M52R|COPS4_ENST00000511653.1_Splice_Site_p.M52R	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	52					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TTTAAACAAGTGGTAAATGAG	0.318																																						uc003hoa.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.e3-1		Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.							68.0	66.0	67.0					4																	83970319		2203	4300	6503	SO:0001630	splice_region_variant	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83970319T>G	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.155-1T>G	4.37:g.83970319T>G						COPS4_uc010ijx.3_Splice_Site_p.M52_splice	p.M52_splice	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN			3	294	+		Hepatocellular(203;0.114)	52					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.155_splice	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412105	0.62511	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000503682;ENST00000511653	T;T;T;T	0.45668	0.91;0.91;0.9;0.89	5.59	5.59	0.84812	.	0.039861	0.85682	D	0.000000	T	0.36303	0.0962	L	0.49778	1.585	0.80722	D	1	B;B;P;B	0.36535	0.059;0.082;0.557;0.142	B;B;B;B	0.29942	0.055;0.055;0.058;0.109	T	0.15578	-1.0432	9	.	.	.	.	15.8158	0.78597	0.0:0.0:0.0:1.0	.	52;52;52;52	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	R	52	ENSP00000425976:M52R;ENSP00000264389:M52R;ENSP00000424791:M52R;ENSP00000424655:M52R	.	M	+	2	0	COPS4	84189343	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.785000	0.85724	2.133000	0.65898	0.477000	0.44152	ATG		0.318	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1		Missense_Mutation
TAS2R1	50834	broad.mit.edu	37	5	9629276	9629276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:9629276delT	ENST00000382492.2	-	1	1187	c.869delA	c.(868-870)aagfs	p.K290fs	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	290					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGGAGGAACTTTTTTGCATT	0.393																																						uc003jem.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(868-870)aagfs		Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.							95.0	97.0	96.0					5																	9629276		2203	4300	6503	SO:0001589	frameshift_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629276delT	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.869delA	5.37:g.9629276delT	ENSP00000371932:p.Lys290fs						p.K290fs	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			0	1188	-			290					Q646G8	Frame_Shift_Del	DEL	ENST00000382492.2	37	c.869delA	CCDS3876.1																																																																																				0.393	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2		
ARHGEF28	64283	broad.mit.edu	37	5	73128199	73128199	+	Missense_Mutation	SNP	C	C	T	rs372079481		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:73128199C>T	ENST00000426542.2	+	9	1081	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P354L|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P354L|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P354L|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P41L|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.P354L|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P354L			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	354					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TCCAAGCCGCCCTCGACATTG	0.448																																						uc010izf.3																			0											c.(1060-1062)cCc>cTc		Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.							87.0	77.0	80.0					5																	73128199		1889	4110	5999	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73128199C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1061C>T	5.37:g.73128199C>T	ENSP00000412175:p.Pro354Leu					RGNEF_uc011csq.2_Missense_Mutation_p.P354L|RGNEF_uc003kcy.1_Missense_Mutation_p.P354L|RGNEF_uc021yam.1_Missense_Mutation_p.P354L|RGNEF_uc011csr.2_Missense_Mutation_p.P41L	p.P354L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	9	1237	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	354					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.1061C>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	4.662	0.123147	0.08931	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.11604	3.0;3.0;3.0;2.76;3.0;3.0;2.8	5.48	2.63	0.31362	.	.	.	.	.	T	0.10895	0.0266	L	0.48642	1.525	0.09310	N	1	B;B;B;B;B	0.20671	0.003;0.003;0.003;0.047;0.003	B;B;B;B;B	0.18263	0.005;0.005;0.005;0.021;0.011	T	0.22765	-1.0207	9	0.52906	T	0.07	.	8.8112	0.34967	0.0:0.7339:0.1236:0.1425	.	41;354;354;354;354	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	L	354;354;354;354;354;354;41	ENSP00000296794:P354L;ENSP00000441913:P354L;ENSP00000441436:P354L;ENSP00000287898:P354L;ENSP00000411459:P354L;ENSP00000412175:P354L;ENSP00000296799:P41L	ENSP00000287898:P354L	P	+	2	0	RP11-428C6.1	73163955	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	1.224000	0.32539	0.318000	0.23185	0.650000	0.86243	CCC		0.448	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
ENC1	8507	broad.mit.edu	37	5	73931841	73931841	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:73931841T>C	ENST00000302351.4	-	2	1600	c.470A>G	c.(469-471)gAt>gGt	p.D157G	ENC1_ENST00000537006.1_Missense_Mutation_p.D157G|ENC1_ENST00000510316.1_Missense_Mutation_p.D84G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	157					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTGGTGTGCATCAGACAGCAG	0.517																																						uc003kdc.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(469-471)gAt>gGt		Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.							99.0	92.0	95.0					5																	73931841		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931841T>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.470A>G	5.37:g.73931841T>C	ENSP00000306356:p.Asp157Gly					ENC1_uc011css.2_Missense_Mutation_p.D84G|ENC1_uc021yao.1_Missense_Mutation_p.D157G	p.D157G	NM_003633	NP_003624	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	1	1601	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	157					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.470A>G	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291428	0.59976	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.70749	-0.51;-0.51;-0.51	6.04	6.04	0.98038	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.86029	0.5835	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88075	0.2803	10	0.87932	D	0	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	157	O14682	ENC1_HUMAN	G	157;84;157	ENSP00000306356:D157G;ENSP00000423804:D84G;ENSP00000446289:D157G	ENSP00000306356:D157G	D	-	2	0	ENC1	73967597	1.000000	0.71417	0.831000	0.32960	0.569000	0.35902	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	GAT		0.517	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633	
PCDHGB4	8641	broad.mit.edu	37	5	140769114	140769114	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:140769114G>A	ENST00000519479.1	+	1	1663	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCGCAACGACAATGCGCC	0.672																																						uc003lkc.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1663-1665)Gac>Aac		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.							37.0	46.0	43.0					5																	140769114		2140	4253	6393	SO:0001583	missense	8641				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769114G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1663G>A	5.37:g.140769114G>A	ENSP00000428288:p.Asp555Asn					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	p.D555N	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1663	+			559			Cadherin 5.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1663G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.187588	0.78789	.	.	ENSG00000253953	ENST00000519479	T	0.64085	-0.08	5.05	5.05	0.67936	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.86058	0.5842	H	0.96142	3.775	0.42261	D	0.992019	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.90870	0.4745	9	0.87932	D	0	.	18.4161	0.90571	0.0:0.0:1.0:0.0	.	555;555	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	N	555	ENSP00000428288:D555N	ENSP00000428288:D555N	D	+	1	0	PCDHGB4	140749298	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	7.524000	0.81866	2.503000	0.84419	0.563000	0.77884	GAC		0.672	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736	
ELOVL2	54898	broad.mit.edu	37	6	10995345	10995345	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr6:10995345C>T	ENST00000354666.3	-	5	483	c.400G>A	c.(400-402)Gtt>Att	p.V134I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	134					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTCCGCAAAACGAAGAAAATT	0.393																																						uc003mzp.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(400-402)Gtt>Att		Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.							119.0	114.0	115.0					6																	10995345		2203	4300	6503	SO:0001583	missense	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10995345C>T	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.400G>A	6.37:g.10995345C>T	ENSP00000346693:p.Val134Ile						p.V134I	NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		4	561	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	134					Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.400G>A	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818763	0.16607	.	.	ENSG00000197977	ENST00000354666	T	0.27402	1.67	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.07324	0.0185	N	0.04994	-0.135	0.53005	D	0.999967	B	0.33777	0.425	B	0.32583	0.148	T	0.11542	-1.0583	10	0.06099	T	0.92	-1.6025	19.9598	0.97242	0.0:1.0:0.0:0.0	.	134	Q9NXB9	ELOV2_HUMAN	I	134	ENSP00000346693:V134I	ENSP00000346693:V134I	V	-	1	0	ELOVL2	11103331	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.648000	0.61425	2.716000	0.92895	0.655000	0.94253	GTT		0.393	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1		
ITPR3	3710	broad.mit.edu	37	6	33654271	33654271	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr6:33654271G>A	ENST00000374316.5	+	44	7014	c.5954G>A	c.(5953-5955)cGc>cAc	p.R1985H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1985H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1985					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGCAAGTACCGCATGGATCTG	0.547																																						uc021ywr.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5953-5955)cGc>cAc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.							149.0	110.0	124.0					6																	33654271		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33654271G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5954G>A	6.37:g.33654271G>A	ENSP00000363435:p.Arg1985His						p.R1985H	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			42	6178	+			1985					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.5954G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310573	0.81358	.	.	ENSG00000096433	ENST00000374316	D	0.92647	-3.08	4.62	4.62	0.57501	.	0.059063	0.64402	D	0.000002	D	0.92731	0.7689	L	0.54965	1.715	0.58432	D	0.999991	D;P	0.62365	0.991;0.95	P;B	0.58970	0.849;0.439	D	0.92066	0.5660	10	0.41790	T	0.15	-17.08	17.8484	0.88737	0.0:0.0:1.0:0.0	.	1985;1655	Q14573;Q59ES2	ITPR3_HUMAN;.	H	1985	ENSP00000363435:R1985H	ENSP00000363435:R1985H	R	+	2	0	ITPR3	33762249	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.957000	0.87870	2.276000	0.75962	0.462000	0.41574	CGC		0.547	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
SNAI2	6591	broad.mit.edu	37	8	49832679	49832679	+	Missense_Mutation	SNP	T	T	C	rs200799419		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:49832679T>C	ENST00000396822.1	-	3	758	c.401A>G	c.(400-402)aAt>aGt	p.N134S	SNAI2_ENST00000020945.1_Missense_Mutation_p.N134S			O43623	SNAI2_HUMAN	snail family zinc finger 2	134					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATAGGTCTTATTGCATAAATT	0.438													T|||	1	0.000199681	0.0	0.0	5008	,	,		21426	0.001		0.0	False		,,,				2504	0.0					uc003xqp.3																			0		p.N134D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18						c.(400-402)aAt>aGt		Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.							128.0	127.0	127.0					8																	49832679		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832679T>C	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.401A>G	8.37:g.49832679T>C	ENSP00000380034:p.Asn134Ser						p.N134S	NM_003068	NP_003059	O43623	SNAI2_HUMAN			1	576	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	134					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.401A>G	CCDS6146.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	3.704	-0.060919	0.07317	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.29917	1.55;1.55	5.19	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.120387	0.85682	N	0.000000	T	0.15739	0.0379	N	0.12527	0.23	0.39247	D	0.963969	B	0.02656	0.0	B	0.09377	0.004	T	0.07009	-1.0795	10	0.38643	T	0.18	-8.0304	8.004	0.30315	0.0:0.2278:0.0:0.7722	.	134	O43623	SNAI2_HUMAN	S	134	ENSP00000020945:N134S;ENSP00000380034:N134S	ENSP00000020945:N134S	N	-	2	0	SNAI2	49995232	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	0.232000	0.17891	0.296000	0.22592	0.459000	0.35465	AAT		0.438	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068	
ZFHX4	79776	broad.mit.edu	37	8	77617855	77617855	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:77617855C>T	ENST00000521891.2	+	2	1980	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S511L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S511L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S511L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCCTTTATCATCCAGTGTG	0.413										HNSCC(33;0.089)																												uc003yau.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1531-1533)tCa>tTa		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							39.0	39.0	39.0					8																	77617855		1925	4137	6062	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617855C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1532C>T	8.37:g.77617855C>T	ENSP00000430497:p.Ser511Leu	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.S511L|ZFHX4_uc003yaw.1_Missense_Mutation_p.S511L	p.S511L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		1	1919	+			511					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1532C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680949	0.29872	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.83;0.79;0.79	5.65	5.65	0.86999	.	0.000000	0.36628	U	0.002492	T	0.36771	0.0979	N	0.20986	0.625	0.80722	D	1	B;B;B;B	0.28082	0.126;0.11;0.2;0.007	B;B;B;B	0.24155	0.023;0.028;0.051;0.007	T	0.08576	-1.0715	10	0.23302	T	0.38	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	511;511;511;511	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	L	511	ENSP00000430497:S511L;ENSP00000399605:S511L;ENSP00000050961:S511L;ENSP00000430848:S511L	ENSP00000050961:S511L	S	+	2	0	ZFHX4	77780410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	TCA		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77617897	77617897	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:77617897C>T	ENST00000521891.2	+	2	2022	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S525F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S525F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S525F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	525	Poly-Ser.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCTCGTCCTCCTCGGCGACT	0.433										HNSCC(33;0.089)																												uc003yau.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1573-1575)tCc>tTc		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							40.0	40.0	40.0					8																	77617897		1959	4148	6107	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617897C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1574C>T	8.37:g.77617897C>T	ENSP00000430497:p.Ser525Phe	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.S525F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S525F	p.S525F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		1	1961	+			525			Poly-Ser.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1574C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214733	0.39102	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.67;0.67	5.65	5.65	0.86999	.	0.000000	0.44285	U	0.000476	T	0.63438	0.2511	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.71674	0.989;0.998;0.993;0.996	P;D;P;P	0.64877	0.768;0.93;0.884;0.875	T	0.63274	-0.6674	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	525;525;525;525	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	F	525	ENSP00000430497:S525F;ENSP00000399605:S525F;ENSP00000050961:S525F;ENSP00000430848:S525F	ENSP00000050961:S525F	S	+	2	0	ZFHX4	77780452	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.424000	0.66464	2.941000	0.99782	0.655000	0.94253	TCC		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
CEL	1056	broad.mit.edu	37	9	135946657	135946658	+	Frame_Shift_Ins	INS	-	-	C	rs539532953|rs193922638		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr9:135946657_135946658insC	ENST00000372080.4	+	11	1793_1794	c.1777_1778insC	c.(1777-1779)gccfs	p.A593fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.A524fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	590	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGGGCCCCCCCCGTG	0.817																																						uc010naa.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1777-1779)gccfs		Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.																																				SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946657_135946658insC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1785dupC	9.37:g.135946665_135946665dupC	ENSP00000361151:p.Ala593fs						p.A593fs	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	10	1793_1794	+			590			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Ins	INS	ENST00000372080.4	37	c.1777_1778insC	CCDS43896.1																																																																																				0.817	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1		
NPDC1	56654	broad.mit.edu	37	9	139934426	139934426	+	Silent	SNP	G	G	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr9:139934426G>C	ENST00000371601.4	-	8	1095	c.882C>G	c.(880-882)gcC>gcG	p.A294A	NPDC1_ENST00000371600.3_Silent_p.A372A|RP11-229P13.20_ENST00000457302.2_lincRNA|NPDC1_ENST00000488145.1_5'Flank	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	294						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CACTCACCGGGGCCAGGCCCG	0.657																																						uc004cks.2																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(1114-1116)gcC>gcG		Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA.							60.0	61.0	61.0					9																	139934426		2202	4298	6500	SO:0001819	synonymous_variant	56654					integral to membrane		g.chr9:139934426G>C	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.882C>G	9.37:g.139934426G>C						NPDC1_uc004ckt.2_Silent_p.A294A	p.A372A	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	6	1789	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	294					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Silent	SNP	ENST00000371601.4	37	c.1116C>G	CCDS7024.1																																																																																				0.657	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392	
CSF2RA	1438	broad.mit.edu	37	X	1413266	1413266	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chrX:1413266C>T	ENST00000381524.3	+	8	878	c.692C>T	c.(691-693)aCg>aTg	p.T231M	BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000501036.2_Missense_Mutation_p.T98M|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000494969.2_Intron|MIR3690_ENST00000580266.1_RNA|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T231M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T231M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.T231M|CSF2RA_ENST00000355432.3_Missense_Mutation_p.T231M|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000381500.1_Missense_Mutation_p.T231M|BX649553.1_ENST00000583047.1_RNA|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T231M|CSF2RA_ENST00000361536.3_Missense_Mutation_p.T231M|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	231	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCAACACGACGCACTGCCTC	0.572																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(691-693)aCg>aTg		Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	Sargramostim(DB00020)		MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,	2,4404		0,2,2201	430.0	350.0	377.0		692,692,692,293,692,692,692,692,	1.5	0.0	X	dbSNP_134	377	5,8587		0,5,4291	yes	missense,missense,missense,missense,missense,missense,missense,missense,intron	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161531.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	81,81,81,81,81,81,81,81,	0,7,6492	TT,TC,CC		0.0582,0.0454,0.0539	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	231/401,231/435,231/411,98/268,231/401,231/401,231/378,231/334,	1413266	7,12991	2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1413266C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.692C>T	X.37:g.1413266C>T	ENSP00000370935:p.Thr231Met					CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T231M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T231M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T231M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.T98M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T231M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T231M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T231M	p.T231M	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN			8	1014	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	231					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.692C>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	7.000	0.554650	0.13436	4.54E-4	5.82E-4	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;T;D;D;D;D	0.96856	-4.15;-4.15;-2.24;-2.24;-4.15;0.86;-4.15;-2.24;-4.15;-2.24	1.54	1.54	0.23209	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.040400	0.07667	U	0.934864	D	0.90916	0.7145	.	.	.	0.09310	N	1	B;B;B;P;B	0.39601	0.388;0.381;0.388;0.68;0.381	B;B;B;B;B	0.25614	0.062;0.02;0.062;0.045;0.02	D	0.84648	0.0699	9	0.62326	D	0.03	.	6.3374	0.21304	0.0:1.0:0.0:0.0	.	231;231;231;231;231	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	M	231;231;231;231;98;231;231;231;231;231;231	ENSP00000370940:T231M;ENSP00000416437:T231M;ENSP00000354836:T231M;ENSP00000440491:T98M;ENSP00000370935:T231M;ENSP00000410667:T231M;ENSP00000370920:T231M;ENSP00000347606:T231M;ENSP00000394227:T231M;ENSP00000370911:T231M	ENSP00000347606:T231M	T	+	2	0	CSF2RA	1373266	0.003000	0.15002	0.003000	0.11579	0.064000	0.16182	1.145000	0.31577	0.818000	0.34468	0.100000	0.15512	ACG		0.572	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		
ATRX	546	broad.mit.edu	37	X	76888787	76888792	+	In_Frame_Del	DEL	ATGATC	ATGATC	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chrX:76888787_76888792delATGATC	ENST00000373344.5	-	19	5251_5256	c.5037_5042delGATCAT	c.(5035-5043)atgatcata>ata	p.MI1679del	ATRX_ENST00000395603.3_In_Frame_Del_p.MI1641del|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1679	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTCATAGCCTATGATCATAACACCAC	0.398			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145	GRCh37	CM005474	ATRX	M		c.(5035-5043)atgatcata>ata		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76888787_76888792delATGATC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5037_5042delGATCAT	X.37:g.76888787_76888792delATGATC	ENSP00000362441:p.Met1679_Ile1680del					ATRX_uc004ecq.4_In_Frame_Del_p.MI1641del|ATRX_uc004eco.4_In_Frame_Del_p.MI1464del	p.MI1679del	NM_000489	NP_000480	P46100	ATRX_HUMAN			18	5269_5274	-			1679			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.5037_5042delGATCAT	CCDS14434.1																																																																																				0.398	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
