#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
ACKR1	2532	broad.mit.edu	37	1	159175495	159175495	+	Missense_Mutation	SNP	G	G	A	rs371909350		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr1:159175495G>A	ENST00000368122.2	+	2	945	c.266G>A	c.(265-267)cGc>cAc	p.R89H	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.R89H|DARC_ENST00000368121.2_Missense_Mutation_p.R91H	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		89			R -> C (antigen Fy(x); dbSNP:rs34599082). {ECO:0000269|PubMed:9731074, ECO:0000269|PubMed:9746760, ECO:0000269|PubMed:9886340}.		chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCTCTCTTCCGCTGGCAGCTC	0.602																																						uc001ftp.4																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(271-273)cGc>cAc		Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	126.0	120.0	122.0		272,266	-3.7	0.9	1		122	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	DARC	NM_001122951.2,NM_002036.3	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	91/339,89/337	159175495	2,13004	2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175495G>A																												ENST00000368122.2:c.266G>A	1.37:g.159175495G>A	ENSP00000357104:p.Arg89His					DARC_uc001fto.3_Missense_Mutation_p.R89H	p.R91H	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN			0	447	+	all_hematologic(112;0.0429)		89					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.272G>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.213852	0.01555	0.0	2.33E-4	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.41065	1.01;1.01;1.95;1.01	4.96	-3.71	0.04424	.	1.239470	0.06256	N	0.693066	T	0.03695	0.0105	N	0.01668	-0.77	0.19300	N	0.999979	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.31971	-0.9924	10	0.09843	T	0.71	-3.2297	7.208	0.25917	0.3079:0.1645:0.5276:0.0	.	91;89	Q5Y7A1;Q16570	.;DUFFY_HUMAN	H	89;89;89;91;91	ENSP00000357104:R89H;ENSP00000441985:R89H;ENSP00000398406:R91H;ENSP00000357103:R91H	ENSP00000352341:R89H	R	+	2	0	DARC	157442119	0.005000	0.15991	0.923000	0.36655	0.277000	0.26821	-0.503000	0.06383	-0.522000	0.06417	-1.587000	0.00848	CGC		0.602	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2		
OBSCN	84033	broad.mit.edu	37	1	228529316	228529316	+	Splice_Site	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr1:228529316G>A	ENST00000422127.1	+	74	18078		c.e74+1		OBSCN_ENST00000570156.2_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGTGTGGCGTGAGTGTCCA	0.667																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.e74+1		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							28.0	37.0	34.0					1																	228529316		2161	4244	6405	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228529316G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18034+1G>A	1.37:g.228529316G>A						OBSCN_uc001hsn.3_Splice_Site_p.R6012_splice|OBSCN_uc001hsr.1_Splice_Site_p.R641_splice	p.R6012_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			74	18078	+		Prostate(94;0.0405)	6012					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	c.18034_splice	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284710	0.80803	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000441106	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.442	0.90670	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226595939	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.405000	0.97313	2.342000	0.79632	0.563000	0.77884	.		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Intron
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0											c.(523-525)aAt>aGt		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							4	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
AGAP6	414189	broad.mit.edu	37	10	51748567	51748567	+	Missense_Mutation	SNP	C	C	T	rs201959678		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:51748567C>T	ENST00000374056.4	+	1	490	c.92C>T	c.(91-93)aCc>aTc	p.T31I	AGAP6_ENST00000412531.3_Missense_Mutation_p.T31I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	31					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GAATCTGAGACCTATGAGGCA	0.597																																						uc001jix.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(91-93)aCc>aTc		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51748567C>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.92C>T	10.37:g.51748567C>T	ENSP00000363168:p.Thr31Ile						p.T31I	NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN			0	490	+			31						Missense_Mutation	SNP	ENST00000374056.4	37	c.92C>T		.	.	.	.	.	.	.	.	.	.	T	0.001	-3.137047	0.00030	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D;D	0.86627	-2.15;-2.15	1.16	1.16	0.20824	.	0.224693	0.38663	N	0.001609	T	0.64046	0.2563	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52503	-0.8567	9	0.02654	T	1	.	3.2917	0.06952	0.0:0.2646:0.0:0.7354	.	31	C9IYN2	.	I	31	ENSP00000363168:T31I;ENSP00000400972:T31I	ENSP00000363168:T31I	T	+	2	0	AGAP6	51418573	0.001000	0.12720	0.518000	0.27811	0.052000	0.14988	-0.019000	0.12546	-0.041000	0.13558	-1.514000	0.00941	ACC		0.597	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665	
VENTX	27287	broad.mit.edu	37	10	135053299	135053299	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:135053299C>T	ENST00000325980.9	+	2	872	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	121					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCCTCTGGAGCGGAAGAGGCT	0.687																																						uc010quy.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14						c.(361-363)Cgg>Tgg		Homo sapiens VENT homeobox (VENTX), mRNA.							25.0	28.0	27.0					10																	135053299		2202	4294	6496	SO:0001583	missense	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053299C>T	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.361C>T	10.37:g.135053299C>T	ENSP00000357556:p.Arg121Trp						p.R121W	NM_014468	NP_055283	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	1	372	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	121					Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	c.361C>T	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925756	0.52759	.	.	ENSG00000151650	ENST00000325980	D	0.97553	-4.43	2.83	0.609	0.17575	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.127530	0.49305	U	0.000146	D	0.98394	0.9466	H	0.97131	3.945	0.40105	D	0.976411	D	0.89917	1.0	D	0.97110	1.0	D	0.95855	0.8878	10	0.87932	D	0	.	2.4411	0.04494	0.2935:0.5253:0.0:0.1812	.	121	O95231	VENTX_HUMAN	W	121	ENSP00000357556:R121W	ENSP00000357556:R121W	R	+	1	2	VENTX	134903289	0.993000	0.37304	0.020000	0.16555	0.774000	0.43823	1.214000	0.32419	0.508000	0.28173	0.442000	0.29010	CGG		0.687	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468	
OR4C3	256144	broad.mit.edu	37	11	48346680	48346680	+	Missense_Mutation	SNP	C	C	T	rs202136357		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:48346680C>T	ENST00000319856.4	+	1	209	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TATGTGGTCACGGTTTGTGGC	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.0					uc010rhv.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(187-189)aCg>aTg		Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.							157.0	132.0	141.0					11																	48346680		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346680C>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.188C>T	11.37:g.48346680C>T	ENSP00000321419:p.Thr63Met						p.T63M	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			0	188	+			36					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.188C>T	CCDS31489.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.47	3.833442	0.71258	.	.	ENSG00000176547	ENST00000319856	T	0.00504	6.94	5.87	5.87	0.94306	.	0.281721	0.25375	N	0.031122	T	0.02848	0.0085	H	0.96301	3.8	0.22610	N	0.998938	D	0.67145	0.996	P	0.57283	0.817	T	0.13124	-1.0521	10	0.87932	D	0	.	17.8676	0.88800	0.0:1.0:0.0:0.0	.	36	Q8NH37	OR4C3_HUMAN	M	63	ENSP00000321419:T63M	ENSP00000321419:T63M	T	+	2	0	OR4C3	48303256	0.058000	0.20735	0.008000	0.14137	0.943000	0.58893	0.407000	0.21049	2.825000	0.97269	0.543000	0.68304	ACG		0.463	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702	
OR4A47	403253	broad.mit.edu	37	11	48510660	48510660	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:48510660G>A	ENST00000446524.1	+	1	392	c.316G>A	c.(316-318)Ggt>Agt	p.G106S		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GCACATTTTCGGTGGGTCAGA	0.453																																						uc010rhx.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(316-318)Ggt>Agt		Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.							102.0	95.0	97.0					11																	48510660		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510660G>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.316G>A	11.37:g.48510660G>A	ENSP00000412752:p.Gly106Ser						p.G106S	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			0	316	+			106						Missense_Mutation	SNP	ENST00000446524.1	37	c.316G>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.95	2.091914	0.36952	.	.	ENSG00000237388	ENST00000446524	T	0.37915	1.17	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.113194	0.39687	N	0.001292	T	0.33059	0.0850	M	0.68317	2.08	0.37036	D	0.896901	P	0.44521	0.837	B	0.28991	0.097	T	0.54596	-0.8270	10	0.72032	D	0.01	.	15.4385	0.75165	0.0:0.0:1.0:0.0	.	106	Q6IF82	O4A47_HUMAN	S	106	ENSP00000412752:G106S	ENSP00000412752:G106S	G	+	1	0	OR4A47	48467236	0.072000	0.21174	0.974000	0.42286	0.113000	0.19764	1.915000	0.39976	2.218000	0.71995	0.511000	0.50034	GGT		0.453	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512	
OR5W2	390148	broad.mit.edu	37	11	55681751	55681751	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:55681751A>G	ENST00000344514.1	-	1	307	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATACAGAAGACCAAGAATTG	0.468																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.2																			0		p.V103V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(307-309)gTc>gCc		Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.							121.0	118.0	119.0					11																	55681751		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681751A>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.308T>C	11.37:g.55681751A>G	ENSP00000342448:p.Val103Ala						p.V103A	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			0	308	-			103						Missense_Mutation	SNP	ENST00000344514.1	37	c.308T>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535664	0.27475	.	.	ENSG00000187612	ENST00000344514	T	0.00397	7.57	5.01	0.0149	0.14102	GPCR, rhodopsin-like superfamily (1);	0.619835	0.13288	N	0.399206	T	0.00210	0.0006	N	0.20845	0.615	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.36744	-0.9735	10	0.72032	D	0.01	.	8.3287	0.32173	0.6618:0.0:0.3382:0.0	.	103	Q8NH69	OR5W2_HUMAN	A	103	ENSP00000342448:V103A	ENSP00000342448:V103A	V	-	2	0	OR5W2	55438327	0.000000	0.05858	0.000000	0.03702	0.841000	0.47740	-0.007000	0.12810	-0.267000	0.09325	-0.463000	0.05309	GTC		0.468	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
GANAB	23193	broad.mit.edu	37	11	62400735	62400735	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:62400735C>T	ENST00000356638.3	-	7	655	c.639G>A	c.(637-639)gaG>gaA	p.E213E	GANAB_ENST00000540933.1_Silent_p.E116E|GANAB_ENST00000534779.1_Silent_p.E121E|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000346178.4_Silent_p.E235E	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	213					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TCCCCTGAGTCTCCTCTGGCT	0.527																																					Melanoma(23;1005 1074 15747 18937)	uc001nua.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(703-705)gaG>gaA		Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.							106.0	111.0	109.0					11																	62400735		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400735C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.639G>A	11.37:g.62400735C>T						GANAB_uc001nub.3_Silent_p.E213E|GANAB_uc001nuc.3_Silent_p.E116E|GANAB_uc010rma.2_Silent_p.E121E|GANAB_uc010rmb.2_Silent_p.E99E	p.E235E	NM_198335	NP_938149	Q14697	GANAB_HUMAN			7	738	-			213					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.705G>A	CCDS8026.1																																																																																				0.527	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334	
USP28	57646	broad.mit.edu	37	11	113672259	113672259	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:113672259C>T	ENST00000003302.4	-	24	3072	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	USP28_ENST00000545540.1_Missense_Mutation_p.A845T|USP28_ENST00000544967.1_Missense_Mutation_p.A678T|USP28_ENST00000260188.5_Missense_Mutation_p.A970T	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1002					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCTCAATGGCATCCAGATCA	0.393																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.3																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3004-3006)Gcc>Acc		Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.							123.0	102.0	109.0					11																	113672259		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113672259C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.3004G>A	11.37:g.113672259C>T	ENSP00000003302:p.Ala1002Thr					USP28_uc001pog.3_Missense_Mutation_p.A678T|USP28_uc010rwy.2_Missense_Mutation_p.A845T|USP28_uc001poi.3_Missense_Mutation_p.A325T	p.A1002T	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	23	3037	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	1002					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.3004G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046089	0.93740	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.52295	1.23;1.25;0.67;1.26	5.62	5.62	0.85841	.	0.228496	0.45361	D	0.000370	T	0.54464	0.1860	L	0.46157	1.445	0.51482	D	0.999923	P;D;P	0.56035	0.91;0.974;0.898	B;P;P	0.51016	0.354;0.656;0.557	T	0.56962	-0.7892	10	0.72032	D	0.01	-14.0318	17.8505	0.88746	0.0:1.0:0.0:0.0	.	845;1002;678	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	T	1002;970;678;845	ENSP00000003302:A1002T;ENSP00000260188:A970T;ENSP00000442431:A678T;ENSP00000444991:A845T	ENSP00000003302:A1002T	A	-	1	0	USP28	113177469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.268000	0.78473	2.639000	0.89480	0.585000	0.79938	GCC		0.393	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
DDX25	29118	broad.mit.edu	37	11	125788549	125788549	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:125788549C>T	ENST00000263576.6	+	10	1220	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	355	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AGTGGTTGACCGTGGAGATGA	0.512																																						uc001qcz.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1063-1065)acC>acT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.							137.0	136.0	136.0					11																	125788549		2016	4179	6195	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125788549C>T	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1065C>T	11.37:g.125788549C>T						DDX25_uc010sbk.2_Silent_p.T355T	p.T355T	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	9	1206	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	355			Helicase C-terminal.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.1065C>T	CCDS44766.1																																																																																				0.512	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264	
LRRK2	120892	broad.mit.edu	37	12	40618993	40618996	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:40618993_40618996delAGTC	ENST00000298910.7	+	1	118_121	c.60_63delAGTC	c.(58-63)atagtcfs	p.IV20fs	AC079630.4_ENST00000412812.1_RNA|LRRK2_ENST00000343742.2_Frame_Shift_Del_p.IV20fs	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	20					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAAGTTGATAGTCAGGCTGAACA	0.544																																						uc001rmg.4																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(58-63)atagtcfs		Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.																																				SO:0001589	frameshift_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40618993_40618996delAGTC	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.60_63delAGTC	12.37:g.40618993_40618996delAGTC	ENSP00000298910:p.Ile20fs						p.I20fs	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			0	181_184	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	20					A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL	ENST00000298910.7	37	c.60_63delAGTC	CCDS31774.1																																																																																				0.544	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
PTPRB	5787	broad.mit.edu	37	12	70928634	70928634	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:70928634G>A	ENST00000261266.5	-	28	5558	c.5529C>T	c.(5527-5529)atC>atT	p.I1843I	RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Silent_p.I1753I|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Silent_p.I1973I|PTPRB_ENST00000334414.6_Silent_p.I2061I|PTPRB_ENST00000451516.2_Silent_p.I1753I|PTPRB_ENST00000538708.1_Silent_p.I1753I|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1843	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAAACTCCCGGATGGTCCACT	0.512																																						uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5527-5529)atC>atT		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							67.0	66.0	66.0					12																	70928634		1948	4162	6110	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70928634G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5529C>T	12.37:g.70928634G>A						BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.I1753I|PTPRB_uc010stp.2_Silent_p.I1753I|PTPRB_uc001swc.4_Silent_p.I2061I|PTPRB_uc001swa.4_Silent_p.I1973I	p.I1843I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		27	5559	-	Renal(347;0.236)		1843			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.5529C>T	CCDS44944.1																																																																																				0.512	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
UHRF1BP1L	23074	broad.mit.edu	37	12	100451481	100451482	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:100451481_100451482delAG	ENST00000279907.7	-	15	3503_3504	c.3291_3292delCT	c.(3289-3294)ctctgtfs	p.C1098fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Del_p.C748fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1098										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAAGAAACACAGAGAGGAGCCA	0.332																																						uc001tgq.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3289-3294)ctctgtfs		Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	23074							g.chr12:100451481_100451482delAG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3291_3292delCT	12.37:g.100451485_100451486delAG	ENSP00000279907:p.Cys1098fs					UHRF1BP1L_uc001tgp.3_Frame_Shift_Del_p.L747fs	p.L1097fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	3520_3521	-			1097					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Del	DEL	ENST00000279907.7	37	c.3291_3292delCT	CCDS31882.1																																																																																				0.332	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
SLC8B1	80024	broad.mit.edu	37	12	113737741	113737741	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:113737741G>A	ENST00000552014.1	-	17	2111	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	SLC8B1_ENST00000550047.1_Silent_p.G47G|SLC8B1_ENST00000202831.3_Silent_p.G532G|SLC8B1_ENST00000546737.1_Silent_p.G476G|SLC8B1_ENST00000549069.1_Silent_p.G91G			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	532					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										GCCCCAGGGCGCCTGCCAGGA	0.627																																						uc001tvc.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(1594-1596)ggC>ggT		Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.							54.0	55.0	55.0					12																	113737741		2203	4300	6503	SO:0001819	synonymous_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113737741G>A	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1596C>T	12.37:g.113737741G>A						SLC24A6_uc001tuz.3_Silent_p.G237G|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.G270G	p.G532G	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			15	1806	-			532					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.1596C>T	CCDS31909.1																																																																																				0.627	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	
KSR2	283455	broad.mit.edu	37	12	118105354	118105354	+	Missense_Mutation	SNP	G	G	A	rs373055394		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:118105354G>A	ENST00000339824.5	-	5	1823	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	KSR2_ENST00000302438.5_Missense_Mutation_p.R63C|KSR2_ENST00000425217.1_Missense_Mutation_p.R337C|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	366					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R398C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAAGGAGCGGAGGGAGCGC	0.602																																						uc001two.2																			1	Substitution - Missense(1)	p.R398C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1009-1011)Cgc>Tgc		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.		G	CYS/ARG	1,4115		0,1,2057	49.0	55.0	53.0		1009	4.8	1.0	12		53	1,8361		0,1,4180	no	missense	KSR2	NM_173598.4	180	0,2,6237	AA,AG,GG		0.012,0.0243,0.016	probably-damaging	337/922	118105354	2,12476	2058	4181	6239	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118105354G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1096C>T	12.37:g.118105354G>A	ENSP00000339952:p.Arg366Cys						p.R337C	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			4	1064	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		366					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1009C>T		.	.	.	.	.	.	.	.	.	.	G	23.4	4.407751	0.83340	2.43E-4	1.2E-4	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.52754	0.65;0.65;0.65	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000003	T	0.52224	0.1721	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.60125	-0.7324	10	0.59425	D	0.04	.	16.9372	0.86206	0.0:0.0:1.0:0.0	.	366	Q6VAB6	KSR2_HUMAN	C	337;366;63;38	ENSP00000389715:R337C;ENSP00000339952:R366C;ENSP00000305466:R63C	ENSP00000305466:R63C	R	-	1	0	KSR2	116589737	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.532000	0.81985	2.356000	0.79943	0.462000	0.41574	CGC		0.602	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
GCN1L1	10985	broad.mit.edu	37	12	120628101	120628101	+	Splice_Site	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:120628101C>T	ENST00000300648.6	-	2	133	c.121G>A	c.(121-123)Gat>Aat	p.D41N		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	41					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAATAAATACCTTTTCCAGCA	0.393																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.e2+1		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							121.0	120.0	120.0					12																	120628101		1862	4100	5962	SO:0001630	splice_region_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120628101C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.121+1G>A	12.37:g.120628101C>T							p.D41_splice	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			2	134	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		41					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.121_splice	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594392	0.28445	.	.	ENSG00000089154	ENST00000300648	T	0.44881	0.91	5.75	4.87	0.63330	.	0.276882	0.39615	N	0.001305	T	0.25865	0.0630	N	0.12182	0.205	0.48511	D	0.999669	B	0.17852	0.024	B	0.10450	0.005	T	0.05162	-1.0902	9	.	.	.	.	15.0835	0.72133	0.0:0.9321:0.0:0.0679	.	41	Q92616	GCN1L_HUMAN	N	41	ENSP00000300648:D41N	.	D	-	1	0	GCN1L1	119112484	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	4.481000	0.60250	1.448000	0.47680	-0.217000	0.12591	GAT		0.393	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		Missense_Mutation
NEK3	4752	broad.mit.edu	37	13	52728302	52728302	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr13:52728302A>G	ENST00000400357.2	-	2	1417	c.124T>C	c.(124-126)Tct>Cct	p.S42P	NEK3_ENST00000339406.3_Missense_Mutation_p.S42P|NEK3_ENST00000452082.2_Missense_Mutation_p.S63P|NEK3_ENST00000378101.2_Missense_Mutation_p.S42P			P51956	NEK3_HUMAN	NIMA-related kinase 3	42	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTGTATTAGAGAAAGACTAG	0.284																																						uc001vgh.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18						c.(187-189)Tct>Cct		Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.							30.0	28.0	29.0					13																	52728302		1795	4068	5863	SO:0001583	missense	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52728302A>G	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.124T>C	13.37:g.52728302A>G	ENSP00000383210:p.Ser42Pro					NEK3_uc001vgi.3_Missense_Mutation_p.S42P|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Missense_Mutation_p.S42P	p.S63P	NM_001146099	NP_001139571	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	1	1418	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	42			Interaction with VAV2.|Protein kinase.		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	c.187T>C	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.512298	0.44660	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000550841	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.98	3.51	0.40186	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.338773	0.36200	N	0.002730	T	0.75657	0.3879	.	.	.	0.26788	N	0.969464	B;D	0.89917	0.066;1.0	B;D	0.76071	0.105;0.987	T	0.66069	-0.6015	9	0.59425	D	0.04	.	4.5817	0.12262	0.6644:0.0:0.2039:0.1317	.	42;63	P51956;Q6ZN64	NEK3_HUMAN;.	P	42;42;42;63;42	ENSP00000339429:S42P;ENSP00000367341:S42P;ENSP00000383210:S42P;ENSP00000404197:S63P;ENSP00000449679:S42P	ENSP00000448782:S42P	S	-	1	0	NEK3	51626303	0.906000	0.30813	0.142000	0.22268	0.607000	0.37147	1.446000	0.35090	0.482000	0.27582	0.482000	0.46254	TCT		0.284	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3		
RIN3	79890	broad.mit.edu	37	14	93022210	93022210	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr14:93022210G>A	ENST00000216487.7	+	2	318	c.159G>A	c.(157-159)ctG>ctA	p.L53L		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	53					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCAGCATCCTGGAGAAGCTCA	0.612																																						uc001yap.3																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(157-159)ctG>ctA		Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.							59.0	57.0	58.0					14																	93022210		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93022210G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.159G>A	14.37:g.93022210G>A						RIN3_uc010auk.3_5'UTR	p.L53L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			1	311	+		all_cancers(154;0.0701)	53					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.159G>A	CCDS32144.1																																																																																				0.612	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
GOLGA8DP	100132979	broad.mit.edu	37	15	22709152	22709152	+	RNA	SNP	G	G	T	rs368651947		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:22709152G>T	ENST00000314246.8	-	0	1244				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											GGCCTGGAGCGCTCCTGCCAC	0.607																																						uc010axw.2																			0											c.(346-348)gCg>gAg		Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																																						100132979							g.chr15:22709152G>T			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709152G>T						abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank	p.A116E							10	1245	-									Missense_Mutation	SNP	ENST00000314246.8	37	c.347C>A		.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005164	0.02112	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	-0.534	0.11883	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.22629	N	0.99892	B	0.06786	0.001	B	0.08055	0.003	T	0.39461	-0.9613	6	0.02654	T	1	.	4.9893	0.14205	0.0:0.0:0.3107:0.6893	.	116	F8WBT8	.	E	116;116;334	.	ENSP00000327024:A116E	A	-	2	0	AC116165.1	20260516	0.948000	0.32251	0.006000	0.13384	0.011000	0.07611	0.915000	0.28638	-0.149000	0.11215	-1.606000	0.00808	GCG		0.607	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407	
TJP1	7082	broad.mit.edu	37	15	30053400	30053400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:30053400G>A	ENST00000346128.6	-	8	1426	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	TJP1_ENST00000400011.2_Nonsense_Mutation_p.Q322*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.Q318*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.Q318*|TJP1_ENST00000495972.2_Nonsense_Mutation_p.Q318*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	318					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTGACCGCTGGTCAGGAGAT	0.488																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.3																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(952-954)Cag>Tag		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.							46.0	51.0	49.0					15																	30053400		1923	4122	6045	SO:0001587	stop_gained	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30053400G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.952C>T	15.37:g.30053400G>A	ENSP00000281537:p.Gln318*					TJP1_uc010azl.3_Nonsense_Mutation_p.Q306*|TJP1_uc001zcq.3_Nonsense_Mutation_p.Q322*|TJP1_uc001zcs.3_Nonsense_Mutation_p.Q318*	p.Q318*	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	7	1427	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	318					B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	c.952C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168059	0.94768	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	4.75	4.75	0.60458	.	0.135817	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.119	0.89565	0.0:0.0:1.0:0.0	.	.	.	.	X	318;322;318;318;318	.	.	Q	-	1	0	TJP1	27840692	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	4.596000	0.61055	2.360000	0.80028	0.585000	0.79938	CAG		0.488	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
MAPKBP1	23005	broad.mit.edu	37	15	42067489	42067489	+	Missense_Mutation	SNP	T	T	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:42067489T>G	ENST00000456763.2	+	2	212	c.16T>G	c.(16-18)Tca>Gca	p.S6A	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S6A|MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.S6A|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S6A|RP11-107F6.3_ENST00000562063.1_lincRNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	6										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGTGGAAGGGTCAACCATTAC	0.557																																						uc001zok.4																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(16-18)Tca>Gca		Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.							93.0	81.0	85.0					15																	42067489		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42067489T>G	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.16T>G	15.37:g.42067489T>G	ENSP00000393099:p.Ser6Ala					MAPKBP1_uc010bci.3_Missense_Mutation_p.S6A|MAPKBP1_uc010udb.2_5'UTR|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S6A|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR	p.S6A	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	1	302	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	6					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.16T>G	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946373	0.53079	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535	T;T;T;T;T	0.58506	1.22;1.39;1.26;1.34;0.33	6.0	3.68	0.42216	.	0.476561	0.20415	N	0.092795	T	0.41166	0.1147	L	0.29908	0.895	0.80722	D	1	B;B;B	0.30914	0.131;0.012;0.3	B;B;B	0.29785	0.033;0.005;0.107	T	0.31503	-0.9941	10	0.48119	T	0.1	-6.7341	5.9852	0.19430	0.1465:0.078:0.0:0.7755	.	6;6;6	O60336-2;O60336;O60336-6	.;MABP1_HUMAN;.	A	6	ENSP00000397570:S6A;ENSP00000221214:S6A;ENSP00000393099:S6A;ENSP00000426154:S6A;ENSP00000422132:S6A	ENSP00000221214:S6A	S	+	1	0	MAPKBP1	39854781	0.995000	0.38212	1.000000	0.80357	0.957000	0.61999	2.630000	0.46494	1.063000	0.40649	0.451000	0.29950	TCA		0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
SEMA7A	8482	broad.mit.edu	37	15	74708161	74708161	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:74708161C>T	ENST00000261918.4	-	8	1515	c.967G>A	c.(967-969)Ggt>Agt	p.G323S	SEMA7A_ENST00000542748.1_Missense_Mutation_p.G158S|SEMA7A_ENST00000543145.2_Missense_Mutation_p.G309S	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	323	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GAGAAAACACCATAGACCCTG	0.612																																						uc002axv.3																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(967-969)Ggt>Agt		Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.							78.0	65.0	70.0					15																	74708161		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74708161C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.967G>A	15.37:g.74708161C>T	ENSP00000261918:p.Gly323Ser					SEMA7A_uc010ulk.2_Missense_Mutation_p.G158S|SEMA7A_uc010ull.2_Missense_Mutation_p.G309S	p.G323S	NM_003612	NP_001139502	O75326	SEM7A_HUMAN			7	1007	-			323			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.967G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677412	0.88445	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.18502	2.21;2.21;2.21	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.055628	0.64402	D	0.000001	T	0.50069	0.1594	M	0.90814	3.15	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.61530	-0.7044	10	0.87932	D	0	-25.3686	16.0097	0.80391	0.0:1.0:0.0:0.0	.	309;323	F5H1S0;O75326	.;SEM7A_HUMAN	S	323;309;158	ENSP00000261918:G323S;ENSP00000438966:G309S;ENSP00000441493:G158S	ENSP00000261918:G323S	G	-	1	0	SEMA7A	72495214	0.957000	0.32711	0.995000	0.50966	0.868000	0.49771	4.997000	0.63921	2.364000	0.80123	0.655000	0.94253	GGT		0.612	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	
FBXO22	26263	broad.mit.edu	37	15	76196838	76196838	+	Silent	SNP	C	C	T	rs370914225		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:76196838C>T	ENST00000308275.3	+	2	252	c.147C>T	c.(145-147)tgC>tgT	p.C49C	FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000565131.1_3'UTR|FBXO22_ENST00000453211.2_Silent_p.C49C	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	49	F-box.				cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCAGCGTGTGCCGCTTATGGA	0.622																																						uc002bbk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(145-147)tgC>tgT		Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.		C	,	1,4393	2.1+/-5.4	0,1,2196	136.0	114.0	121.0		147,147	2.2	1.0	15		121	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	FBXO22	NM_012170.3,NM_147188.2	,	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	,	49/277,49/404	76196838	1,12981	2197	4294	6491	SO:0001819	synonymous_variant	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76196838C>T	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.147C>T	15.37:g.76196838C>T						FBXO22_uc002bbj.2_Silent_p.C49C|FBXO22_uc002bbl.3_Intron	p.C49C	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			1	252	+			49			F-box.		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Silent	SNP	ENST00000308275.3	37	c.147C>T	CCDS10287.1																																																																																				0.622	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188	
ZNF174	7727	broad.mit.edu	37	16	3458790	3458790	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:3458790G>A	ENST00000268655.4	+	3	1680	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	ZNF174_ENST00000571936.1_Silent_p.R365R	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	365					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GCTTTGGGCGGCAGTCAACCC	0.542																																						uc002cvc.3																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(1093-1095)cgG>cgA		Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.							49.0	57.0	54.0					16																	3458790		2197	4300	6497	SO:0001819	synonymous_variant	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3458790G>A	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.1095G>A	16.37:g.3458790G>A							p.R365R	NM_003450	NP_003441	Q15697	ZN174_HUMAN			2	1910	+			365					Q53Y68|Q9BQ34	Silent	SNP	ENST00000268655.4	37	c.1095G>A	CCDS10504.1																																																																																				0.542	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450	
DNAH3	55567	broad.mit.edu	37	16	21080833	21080833	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:21080833G>A	ENST00000261383.3	-	23	3283	c.3284C>T	c.(3283-3285)cCa>cTa	p.P1095L	DNAH3_ENST00000415178.1_Missense_Mutation_p.P1095L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1095	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTGAAGATTGGTTCCAGGTA	0.438																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3283-3285)cCa>cTa		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							196.0	158.0	171.0					16																	21080833		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080833G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3284C>T	16.37:g.21080833G>A	ENSP00000261383:p.Pro1095Leu						p.P1095L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3284	-			1095			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3284C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033594	0.93575	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.63096	-0.02;-0.02	5.15	5.15	0.70609	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000001	D	0.85936	0.5813	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90122	0.4200	10	0.87932	D	0	.	18.9997	0.92828	0.0:0.0:1.0:0.0	.	1095	Q8TD57	DYH3_HUMAN	L	1095	ENSP00000261383:P1095L;ENSP00000394245:P1095L	ENSP00000261383:P1095L	P	-	2	0	DNAH3	20988334	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	7.939000	0.87685	2.580000	0.87095	0.655000	0.94253	CCA		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
SRCAP	10847	broad.mit.edu	37	16	30734359	30734359	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:30734359C>G	ENST00000262518.4	+	24	4353	c.3968C>G	c.(3967-3969)cCt>cGt	p.P1323R	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1261R|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1165R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1323	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGACTGACTCCTGTTCCTCCA	0.587																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3967-3969)cCt>cGt		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							92.0	92.0	92.0					16																	30734359		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30734359C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3968C>G	16.37:g.30734359C>G	ENSP00000262518:p.Pro1323Arg					SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1118R	p.P1323R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		23	4353	+			1323			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3968C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727530	0.48833	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92099	-2.97;-2.88;-2.78	5.83	5.83	0.93111	.	0.114545	0.40144	N	0.001171	D	0.89153	0.6634	N	0.14661	0.345	0.35734	D	0.818146	P;P;P	0.44478	0.836;0.836;0.747	P;P;B	0.48425	0.577;0.577;0.373	D	0.92619	0.6106	10	0.66056	D	0.02	-8.4777	17.0352	0.86473	0.0:1.0:0.0:0.0	.	1165;1261;1323	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	R	1323;1261;1165	ENSP00000262518:P1323R;ENSP00000378499:P1261R;ENSP00000343042:P1165R	ENSP00000262518:P1323R	P	+	2	0	SRCAP	30641860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.765000	0.62271	2.769000	0.95229	0.655000	0.94253	CCT		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
SRCAP	10847	broad.mit.edu	37	16	30749342	30749342	+	Frame_Shift_Del	DEL	G	G	-	rs576461942	byFrequency	TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:30749342delG	ENST00000262518.4	+	34	8366	c.7981delG	c.(7981-7983)gatfs	p.D2661fs	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.D2599fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.D2503fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2661	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCAGCATCTGATGAGCCACT	0.602																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7981-7983)gatfs		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							60.0	54.0	56.0					16																	30749342		2197	4300	6497	SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749342delG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7981delG	16.37:g.30749342delG	ENSP00000262518:p.Asp2661fs					SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.D2456fs	p.D2661fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		33	8366	+			2661			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	c.7981delG	CCDS10689.2																																																																																				0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
RLTPR	146206	broad.mit.edu	37	16	67683468	67683468	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:67683468G>A	ENST00000334583.6	+	20	2193	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E	RLTPR_ENST00000545661.1_Missense_Mutation_p.G586E	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	622	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACGCCATGGGGGACGCGGGC	0.701																																						uc002etn.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1864-1866)gGg>gAg		Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.							22.0	25.0	24.0					16																	67683468		1965	4132	6097	SO:0001583	missense	146206							g.chr16:67683468G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1865G>A	16.37:g.67683468G>A	ENSP00000334958:p.Gly622Glu					RLTPR_uc010cel.1_Missense_Mutation_p.G615E|RLTPR_uc010vjr.2_Missense_Mutation_p.G586E	p.G622E	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	19	1985	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	622			Tropomodulin-like.		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.1865G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595249	0.86953	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.71461	-0.57;-0.57	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84386	0.0552	10	0.37606	T	0.19	-8.4601	18.1015	0.89507	0.0:0.0:1.0:0.0	.	586;622	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	E	622;586	ENSP00000334958:G622E;ENSP00000441481:G586E	ENSP00000334958:G622E	G	+	2	0	RLTPR	66240969	1.000000	0.71417	0.979000	0.43373	0.978000	0.69477	4.907000	0.63300	2.390000	0.81377	0.561000	0.74099	GGG		0.701	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	rs121912655|rs397516437		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr17:7577556C>T	ENST00000269305.4	-	7	914	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TP53_ENST00000455263.2_Missense_Mutation_p.C242Y|TP53_ENST00000420246.2_Missense_Mutation_p.C242Y|TP53_ENST00000445888.2_Missense_Mutation_p.C242Y|TP53_ENST00000359597.4_Missense_Mutation_p.C242Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C242Y	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCGCCCATGCAGGAACTGTT	0.577		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"""		175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	p.C242F(156)|p.C242Y(85)|p.S241F(78)|p.C242S(43)|p.S241C(24)|p.C242fs*5(16)|p.C242R(12)|p.S241A(9)|p.S241fs*6(9)|p.0?(8)|p.S241Y(8)|p.C242W(7)|p.N239_C242delNSSC(6)|p.C149F(6)|p.S241T(6)|p.S241del(5)|p.?(5)|p.C242*(3)|p.S241S(3)|p.S241P(3)|p.C242fs*20(2)|p.C242G(2)|p.Y236_M243delYMCNSSCM(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.C242C(2)|p.C242fs*98(2)|p.C149Y(2)|p.H233_C242del10(2)|p.S241fs*22(2)|p.S241_G245delSCMGG(2)|p.C242fs*23(1)|p.N239fs*4(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N239_C242del(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(1)|prostate(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	CM910618	TP53	M	rs121912655	c.(724-726)tGc>tAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							140.0	107.0	119.0					17																	7577556		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577556C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.725G>A	17.37:g.7577556C>T	ENSP00000269305:p.Cys242Tyr	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_Missense_Mutation_p.C242Y|TP53_uc002gih.3_Missense_Mutation_p.C242Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C110Y|TP53_uc010cnf.1_Missense_Mutation_p.C110Y|TP53_uc002gii.1_Missense_Mutation_p.C110Y|TP53_uc010cni.1_Missense_Mutation_p.C242Y|TP53_uc010cnh.1_Missense_Mutation_p.C242Y|TP53_uc002gij.2_Missense_Mutation_p.C242Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C149Y|TP53_uc002gio.2_Missense_Mutation_p.C110Y|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.C242Y	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	919	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.725G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430778	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99915	-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242Y;ENSP00000352610:C242Y;ENSP00000269305:C242Y;ENSP00000398846:C242Y;ENSP00000391127:C242Y;ENSP00000391478:C242Y;ENSP00000425104:C110Y;ENSP00000423862:C149Y	ENSP00000269305:C242Y	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH8	4626	broad.mit.edu	37	17	10304743	10304743	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr17:10304743G>A	ENST00000403437.2	-	24	3051	c.2957C>T	c.(2956-2958)gCa>gTa	p.A986V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	986					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCCAGGCCTGCCATCTCTTC	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2956-2958)gCa>gTa		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							117.0	120.0	119.0					17																	10304743		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304743G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2957C>T	17.37:g.10304743G>A	ENSP00000384330:p.Ala986Val					AK097500_uc002gml.1_Intron	p.A986V	NM_002472	NP_002463	P13535	MYH8_HUMAN			23	3052	-			986					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2957C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724958	0.89298	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83591	-1.74	5.65	5.65	0.86999	.	0.000000	0.41396	U	0.000888	D	0.87144	0.6104	M	0.78456	2.415	0.58432	D	0.999999	P	0.42010	0.768	P	0.44811	0.461	D	0.88223	0.2898	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	986	P13535	MYH8_HUMAN	V	986	ENSP00000384330:A986V	ENSP00000252173:A986V	A	-	2	0	MYH8	10245468	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.368000	0.79567	2.941000	0.99782	0.655000	0.94253	GCA		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
CNDP1	84735	broad.mit.edu	37	18	72226676	72226676	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr18:72226676G>A	ENST00000358821.3	+	3	500	c.272G>A	c.(271-273)cGt>cAt	p.R91H	CNDP1_ENST00000585136.1_3'UTR|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.R48H	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	91						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGGGGCCCGTGTGGCCTCG	0.632																																					Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(271-273)cGt>cAt		Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.							54.0	53.0	53.0					18																	72226676		2202	4300	6502	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72226676G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.272G>A	18.37:g.72226676G>A	ENSP00000351682:p.Arg91His					BC047599_uc002llr.3_Non-coding_Transcript	p.R91H	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	2	483	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	91					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.272G>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	6.210	0.406826	0.11754	.	.	ENSG00000150656	ENST00000358821	T	0.08102	3.13	5.37	-1.24	0.09435	.	0.393818	0.29830	N	0.011086	T	0.03695	0.0105	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36114	-0.9761	10	0.45353	T	0.12	-1.0742	6.7716	0.23596	0.3611:0.2746:0.3644:0.0	.	91	Q96KN2	CNDP1_HUMAN	H	91	ENSP00000351682:R91H	ENSP00000351682:R91H	R	+	2	0	CNDP1	70377656	0.000000	0.05858	0.043000	0.18650	0.003000	0.03518	-0.118000	0.10692	0.005000	0.14708	-0.929000	0.02709	CGT		0.632	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649	
CATSPERD	257062	broad.mit.edu	37	19	5776309	5776309	+	Silent	SNP	C	C	T	rs573139640	byFrequency	TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:5776309C>T	ENST00000381624.3	+	21	2140	c.2079C>T	c.(2077-2079)atC>atT	p.I693I	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	693					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ACATTTCGATCGTGGATCCGT	0.582																																						uc002mda.3																			0											c.(2077-2079)atC>atT		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.							83.0	83.0	83.0					19																	5776309		1930	4130	6060	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5776309C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2079C>T	19.37:g.5776309C>T							p.I693I	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			20	2140	+			693					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.2079C>T	CCDS12149.2																																																																																				0.582	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
MUC16	94025	broad.mit.edu	37	19	9090864	9090864	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:9090864G>A	ENST00000397910.4	-	1	1154	c.951C>T	c.(949-951)gcC>gcT	p.A317A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	317	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGGCTCTGGCCTCGGGCA	0.498																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(949-951)gcC>gcT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							100.0	103.0	102.0					19																	9090864		2035	4191	6226	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090864G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.951C>T	19.37:g.9090864G>A							p.A317A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	1155	-			317			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.951C>T	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MAST1	22983	broad.mit.edu	37	19	12979571	12979571	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:12979571G>A	ENST00000251472.4	+	21	2720	c.2681G>A	c.(2680-2682)gGg>gAg	p.G894E		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.G894E(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGATGTCAGGGGATGTGGCA	0.577																																						uc002mvm.3																			2	Substitution - Missense(2)	p.G894E(3)	large_intestine(2)	NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2680-2682)gGg>gAg		Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.							102.0	102.0	102.0					19																	12979571		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.chr19:12979571G>A	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.2681G>A	19.37:g.12979571G>A	ENSP00000251472:p.Gly894Glu						p.G894E	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			20	2809	+			894						Missense_Mutation	SNP	ENST00000251472.4	37	c.2681G>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021554	0.54576	.	.	ENSG00000105613	ENST00000251472	T	0.66638	-0.22	4.83	4.83	0.62350	.	0.178072	0.37437	N	0.002098	T	0.77877	0.4196	M	0.68593	2.085	0.50813	D	0.999897	D	0.58620	0.983	P	0.61592	0.891	T	0.79376	-0.1829	10	0.51188	T	0.08	-31.6306	15.4002	0.74834	0.0:0.0:1.0:0.0	.	894	Q9Y2H9	MAST1_HUMAN	E	894	ENSP00000251472:G894E	ENSP00000251472:G894E	G	+	2	0	MAST1	12840571	1.000000	0.71417	0.970000	0.41538	0.144000	0.21451	4.141000	0.58038	2.242000	0.73789	0.561000	0.74099	GGG		0.577	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	
ZNF626	199777	broad.mit.edu	37	19	20808078	20808078	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:20808078T>A	ENST00000601440.1	-	4	751	c.605A>T	c.(604-606)aAa>aTa	p.K202I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	202					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)|endometrium(1)|lung(3)|skin(1)	6						TTCTTCACATTTGTAGGGTTT	0.368																																						uc002npb.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(604-606)aAa>aTa		Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.							50.0	52.0	51.0					19																	20808078		2127	4265	6392	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808078T>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.605A>T	19.37:g.20808078T>A	ENSP00000469958:p.Lys202Ile					ZNF626_uc002npc.1_Missense_Mutation_p.K126I	p.K202I	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			3	755	-			202					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.605A>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	5.597	0.294934	0.10622	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46541	0.1398	M	0.71920	2.185	0.09310	N	1	B	0.15141	0.012	B	0.33295	0.161	T	0.51841	-0.8654	8	0.54805	T	0.06	.	3.5235	0.07751	0.0:0.0:0.4176:0.5824	.	202	Q68DY1	ZN626_HUMAN	I	202;126;202	.	ENSP00000445201:K202I	K	-	2	0	ZNF626	20599918	0.000000	0.05858	0.131000	0.22000	0.131000	0.20780	-1.231000	0.02939	0.141000	0.18875	0.139000	0.15985	AAA		0.368	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
FKRP	79147	broad.mit.edu	37	19	47258817	47258817	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:47258817G>A	ENST00000318584.5	+	4	407	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	FKRP_ENST00000391909.3_Missense_Mutation_p.R37Q|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	37					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TCCCGGGCCCGGGGGCCCCGT	0.677																																						uc002pfn.2																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(109-111)cGg>cAg		Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.							14.0	15.0	15.0					19																	47258817		2189	4286	6475	SO:0001583	missense	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47258817G>A	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.110G>A	19.37:g.47258817G>A	ENSP00000326570:p.Arg37Gln					FKRP_uc002pfp.2_Missense_Mutation_p.R37Q|FKRP_uc021uwj.1_Missense_Mutation_p.R37Q	p.R37Q	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	3	407	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	37					A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.110G>A	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	G	6.560	0.471656	0.12461	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99483	-5.99;-5.99	4.79	4.79	0.61399	.	1.108720	0.06840	N	0.795429	D	0.96396	0.8824	N	0.11427	0.14	0.35346	D	0.786904	D	0.60575	0.988	B	0.40741	0.339	D	0.93516	0.6857	10	0.09843	T	0.71	-21.3694	7.1049	0.25358	0.1831:0.0:0.8169:0.0	.	37	Q9H9S5	FKRP_HUMAN	Q	37	ENSP00000375776:R37Q;ENSP00000326570:R37Q	ENSP00000326570:R37Q	R	+	2	0	FKRP	51950657	0.041000	0.20044	0.982000	0.44146	0.105000	0.19272	1.001000	0.29783	2.492000	0.84095	0.555000	0.69702	CGG		0.677	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301	
LILRB3	11025	broad.mit.edu	37	19	54724484	54724484	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:54724484G>A	ENST00000391750.1	-	7	1308	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Missense_Mutation_p.A391V|LILRA6_ENST00000270464.5_Missense_Mutation_p.A391V|LILRB3_ENST00000245620.9_Missense_Mutation_p.A391V|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.A391V|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.A391V|LILRA6_ENST00000440558.2_Missense_Mutation_p.A391V			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	391	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCCCCGCGTGGGCTGA	0.607																																						uc010erh.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1171-1173)gCg>gTg		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.							39.0	28.0	32.0					19																	54724484		2199	4149	6348	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54724484G>A	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1172C>T	19.37:g.54724484G>A	ENSP00000375630:p.Ala391Val					LILRB3_uc002qee.1_Missense_Mutation_p.A391V|LILRB3_uc002qef.1_Missense_Mutation_p.A391V|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.A391V|LILRB3_uc002qeh.1_Missense_Mutation_p.A391V|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.A391V|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.A391V|LILRB3_uc002qep.1_Missense_Mutation_p.A391V|LILRB3_uc002qeq.1_Missense_Mutation_p.A391V|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron	p.A391V	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	1296	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		391			Ig-like C2-type 4.		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1172C>T	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207041	0.22205	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464	T;T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0;4.0	2.88	-2.83	0.05769	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.213430	0.06219	N	0.686499	T	0.03871	0.0109	M	0.68593	2.085	0.09310	N	1	B;B;B;P;B;B	0.41710	0.034;0.13;0.13;0.76;0.232;0.293	B;B;B;B;B;B	0.32762	0.152;0.016;0.064;0.117;0.055;0.127	T	0.36311	-0.9753	10	0.54805	T	0.06	.	2.2269	0.03986	0.1693:0.3093:0.3947:0.1268	.	391;391;391;391;391;391	B5MCX0;F8WCY4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;LIRB3_HUMAN;.	V	391	ENSP00000375630:A391V;ENSP00000412771:A391V;ENSP00000345184:A391V;ENSP00000245620:A391V;ENSP00000384274:A391V;ENSP00000390120:A391V;ENSP00000270464:A391V	ENSP00000270464:A391V	A	-	2	0	LILRB3;LILRA6	59416296	0.000000	0.05858	0.006000	0.13384	0.068000	0.16541	-0.791000	0.04599	-0.385000	0.07833	-0.494000	0.04653	GCG		0.607	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	
LILRA6	79168	broad.mit.edu	37	19	54744236	54744236	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:54744236G>A	ENST00000396365.2	-	6	1211	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.A391V|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.A391V	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	391	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A391V(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCCCCGCGTGGGCTGA	0.592																																						uc010erh.1																			1	Substitution - Missense(1)	p.A391V(1)	endometrium(1)	endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34								Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.							68.0	96.0	87.0					19																	54744236		2203	4296	6499	SO:0001583	missense	79168				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54744236G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1172C>T	19.37:g.54744236G>A	ENSP00000379651:p.Ala391Val					LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.A391V|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.A391V|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc010yep.1_Missense_Mutation_p.A391V|LILRB3_uc010yeq.1_Missense_Mutation_p.A391V|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.A391V|LILRB3_uc002qev.1_Missense_Mutation_p.A252V		NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)			-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37		CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015702	0.19355	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.03242	4.0;4.0;4.0	2.39	-4.78	0.03209	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.213430	0.06219	N	0.686499	T	0.05318	0.0141	M	0.75085	2.285	0.09310	N	1	B;B;B	0.31817	0.241;0.271;0.341	B;B;B	0.28139	0.025;0.05;0.086	T	0.07947	-1.0746	10	0.46703	T	0.11	.	5.9955	0.19491	0.0:0.3583:0.4208:0.221	.	391;391;391	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	V	391	ENSP00000411227:A391V;ENSP00000379651:A391V;ENSP00000245621:A391V	ENSP00000245621:A391V	A	-	2	0	LILRA6	59436048	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-2.324000	0.01116	-2.421000	0.00563	0.195000	0.17529	GCG		0.592	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
GALNT3	2591	broad.mit.edu	37	2	166611230	166611230	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:166611230G>A	ENST00000392701.3	-	9	2308	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	GALNT3_ENST00000409882.1_Silent_p.S249S	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	511	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCTGACCAACGCTTTTAATCT	0.303																																						uc010fph.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1531-1533)agC>agT		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.							61.0	57.0	59.0					2																	166611230		2203	4300	6503	SO:0001819	synonymous_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166611230G>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1533C>T	2.37:g.166611230G>A							p.S511S	NM_004482	NP_004473	Q14435	GALT3_HUMAN			8	1920	-			511			Ricin B-type lectin.		Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	c.1533C>T	CCDS2226.1																																																																																				0.303	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482	
SESTD1	91404	broad.mit.edu	37	2	180014058	180014058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:180014058C>A	ENST00000428443.3	-	7	863	c.547G>T	c.(547-549)Gga>Tga	p.G183*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	183							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTATCACTTCCATTGTTAATC	0.308																																						uc002uni.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(547-549)Gga>Tga		Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.							93.0	80.0	84.0					2																	180014058		2201	4297	6498	SO:0001587	stop_gained	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180014058C>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.547G>T	2.37:g.180014058C>A	ENSP00000415332:p.Gly183*						p.G183*	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		6	697	-			183					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Nonsense_Mutation	SNP	ENST00000428443.3	37	c.547G>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	37	6.287660	0.97444	.	.	ENSG00000187231	ENST00000428443	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.128	18.8932	0.92413	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	.	G	-	1	0	SESTD1	179722303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.791000	0.85805	2.546000	0.85860	0.655000	0.94253	GGA		0.308	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123	
SP100	6672	broad.mit.edu	37	2	231328786	231328786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:231328786delC	ENST00000264052.5	+	11	1417	c.1062delC	c.(1060-1062)atcfs	p.I354fs	SP100_ENST00000341950.4_Frame_Shift_Del_p.I354fs|SP100_ENST00000427101.2_Frame_Shift_Del_p.I329fs|SP100_ENST00000409824.1_Frame_Shift_Del_p.I329fs|SP100_ENST00000409112.1_Frame_Shift_Del_p.I354fs|SP100_ENST00000409341.1_Frame_Shift_Del_p.I354fs|SP100_ENST00000340126.4_Frame_Shift_Del_p.I354fs|SP100_ENST00000409897.1_Frame_Shift_Del_p.I319fs	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	354	Sufficient to mediate interaction with ETS1.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GTGCAGTGATCAATAATGACA	0.408																																						uc002vqt.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(1060-1062)atcfs		Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.							64.0	61.0	62.0					2																	231328786		2203	4300	6503	SO:0001589	frameshift_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231328786delC	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1062delC	2.37:g.231328786delC	ENSP00000264052:p.Ile354fs					SP100_uc002vqs.3_Frame_Shift_Del_p.I354fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I354fs|SP100_uc002vqq.2_Frame_Shift_Del_p.I354fs|SP100_uc010zmc.2_Frame_Shift_Del_p.I329fs|SP100_uc002vqv.2_Frame_Shift_Del_p.I319fs	p.I354fs	NM_003113	NP_003104	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	10	1203	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	354					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Frame_Shift_Del	DEL	ENST00000264052.5	37	c.1062delC	CCDS2477.1																																																																																				0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113	
ERG	2078	broad.mit.edu	37	21	39764312	39764312	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr21:39764312G>A	ENST00000417133.2	-	9	1006	c.821C>T	c.(820-822)aCg>aTg	p.T274M	ERG_ENST00000398905.1_Missense_Mutation_p.T243M|ERG_ENST00000398897.1_Missense_Mutation_p.T151M|ERG_ENST00000398907.1_Intron|ERG_ENST00000398910.1_Intron|ERG_ENST00000429727.2_Missense_Mutation_p.T148M|ERG_ENST00000288319.7_Missense_Mutation_p.T267M|ERG_ENST00000398911.1_Missense_Mutation_p.T250M|ERG_ENST00000442448.1_Missense_Mutation_p.T250M|ERG_ENST00000398919.2_Missense_Mutation_p.T274M|ERG_ENST00000453032.2_Missense_Mutation_p.T175M	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	311					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.T274M(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CGACTGGGGCGTGGGGTGGCC	0.448			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.3				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	1	Substitution - Missense(1)	p.T274M(1)	endometrium(1)	lung(2)|ovary(1)|skin(1)	4						c.(820-822)aCg>aTg		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.							33.0	25.0	28.0					21																	39764312		2201	4293	6494	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39764312G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.821C>T	21.37:g.39764312G>A	ENSP00000414150:p.Thr274Met					ERG_uc021wjd.1_Missense_Mutation_p.T274M|ERG_uc002yxa.3_Missense_Mutation_p.T267M|ERG_uc011aek.2_Missense_Mutation_p.T175M|ERG_uc010gnv.3_Missense_Mutation_p.T151M|ERG_uc010gnx.3_Missense_Mutation_p.T250M|ERG_uc011ael.2_Missense_Mutation_p.T274M|ERG_uc002yxb.3_Missense_Mutation_p.T250M|ERG_uc011aem.1_Missense_Mutation_p.T148M|ERG_uc010gny.1_Non-coding_Transcript	p.T274M	NM_001243428	NP_001230357	P11308	ERG_HUMAN			8	1116	-		Prostate(19;3.6e-06)	274					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.821C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306132	0.40795	.	.	ENSG00000157554	ENST00000398905;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000442448;ENST00000453032;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T	0.15256	2.44;2.5;2.45;2.44;2.51;2.44;2.51;2.51	5.86	4.96	0.65561	.	0.970958	0.08411	N	0.949875	T	0.15955	0.0384	N	0.11560	0.145	0.23304	N	0.997949	D;B;B;B;P	0.52996	0.957;0.335;0.035;0.104;0.601	P;B;B;B;B	0.47251	0.542;0.083;0.052;0.112;0.136	T	0.39683	-0.9602	10	0.45353	T	0.12	.	14.8304	0.70142	0.0:0.1437:0.8563:0.0	.	148;274;243;250;267	B4E3C5;P11308;B5MDW0;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.	M	243;267;151;250;274;250;175;274;148	ENSP00000381877:T243M;ENSP00000288319:T267M;ENSP00000381871:T151M;ENSP00000381882:T250M;ENSP00000414150:T274M;ENSP00000394694:T250M;ENSP00000396268:T175M;ENSP00000381891:T274M	ENSP00000288319:T267M	T	-	2	0	ERG	38686182	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	3.260000	0.51523	1.436000	0.47453	0.655000	0.94253	ACG		0.448	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918	
TRAT1	50852	broad.mit.edu	37	3	108572602	108572602	+	Missense_Mutation	SNP	G	G	A	rs142175794		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:108572602G>A	ENST00000295756.6	+	6	669	c.439G>A	c.(439-441)Gtt>Att	p.V147I	TRAT1_ENST00000426646.1_Missense_Mutation_p.V110I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	147					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGATGCCAGCGTTTCTAAGAC	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20417	0.0		0.0	False		,,,				2504	0.0					uc003dxi.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(439-441)Gtt>Att		Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.		G	ILE/VAL	9,4397	15.5+/-35.6	0,9,2194	97.0	91.0	93.0		439	-10.6	0.0	3	dbSNP_134	93	0,8600		0,0,4300	yes	missense	TRAT1	NM_016388.2	29	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	147/187	108572602	9,12997	2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572602G>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.439G>A	3.37:g.108572602G>A	ENSP00000295756:p.Val147Ile					TRAT1_uc010hpx.1_Missense_Mutation_p.V110I	p.V147I	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			5	583	+			147					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.439G>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	9.607	1.130369	0.21041	0.002043	0.0	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.36157	1.27;1.41	5.85	-10.6	0.00265	.	1.763740	0.02509	N	0.091292	T	0.22085	0.0532	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.13495	-1.0507	10	0.33940	T	0.23	-25.2205	12.3914	0.55360	0.1463:0.3351:0.5187:0.0	.	110;147	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	I	147;110	ENSP00000295756:V147I;ENSP00000410097:V110I	ENSP00000295756:V147I	V	+	1	0	TRAT1	110055292	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.815000	0.04481	-1.315000	0.02297	-0.982000	0.02568	GTT		0.458	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388	
PARP9	83666	broad.mit.edu	37	3	122274913	122274913	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:122274913G>C	ENST00000360356.2	-	4	437	c.210C>G	c.(208-210)gaC>gaG	p.D70E	PARP9_ENST00000471785.1_Missense_Mutation_p.D35E|PARP9_ENST00000477522.2_Missense_Mutation_p.D35E|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000462315.1_Missense_Mutation_p.D35E	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	70					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAATTTTGAAGTCATTGTGGT	0.353																																						uc010hri.3																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(208-210)gaC>gaG		Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.							39.0	41.0	40.0					3																	122274913		2199	4299	6498	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274913G>C	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.210C>G	3.37:g.122274913G>C	ENSP00000353512:p.Asp70Glu					PARP9_uc003eff.4_Missense_Mutation_p.D35E|PARP9_uc011bjs.2_Missense_Mutation_p.D35E|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.D35E|PARP9_uc003efh.3_Missense_Mutation_p.D70E|PARP9_uc003efj.2_Missense_Mutation_p.D35E	p.D70E	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	3	355	-			70					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.210C>G	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.233359	0.00277	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000462315;ENST00000466126	T;T;T;T	0.16597	3.34;3.19;3.19;2.33	5.31	1.54	0.23209	.	0.767100	0.11808	N	0.527427	T	0.07413	0.0187	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24533	0.105;0.049;0.102	B;B;B	0.28139	0.025;0.026;0.086	T	0.41538	-0.9503	10	0.02654	T	1	.	3.95	0.09364	0.3312:0.0:0.5123:0.1565	.	35;70;35	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	E	70;35;35;35;48	ENSP00000353512:D70E;ENSP00000419506:D35E;ENSP00000419001:D35E;ENSP00000418894:D35E	ENSP00000353512:D70E	D	-	3	2	PARP9	123757603	0.264000	0.24093	0.002000	0.10522	0.011000	0.07611	0.511000	0.22739	0.104000	0.17725	-0.152000	0.13540	GAC		0.353	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458	
DBR1	51163	broad.mit.edu	37	3	137880744	137880746	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:137880744_137880746delTCA	ENST00000260803.4	-	8	1773_1775	c.1620_1622delTGA	c.(1618-1623)gatgac>gac	p.540_541DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.306_307DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	540					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTGCATCGTCATCATCATCAT	0.399																																						uc003erv.3																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1618-1623)gatgac>gac		Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880744_137880746delTCA	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1620_1622delTGA	3.37:g.137880753_137880755delTCA	ENSP00000260803:p.Asp542del					DBR1_uc003eru.3_In_Frame_Del_p.489_490DD>D|DBR1_uc003ert.3_In_Frame_Del_p.308_309DD>D	p.540_541DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			7	1774_1776	-			540					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1620_1622delTGA	CCDS33863.1																																																																																				0.399	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1		
KIT	3815	broad.mit.edu	37	4	55564507	55564507	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:55564507C>T	ENST00000288135.5	+	3	492	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	132	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACAACGACACGCTGGTCCGC	0.498		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.3		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0		p.D131N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(394-396)aCg>aTg		Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						47.0	44.0	45.0					4																	55564507		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55564507C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.395C>T	4.37:g.55564507C>T	ENSP00000288135:p.Thr132Met					KIT_uc010igs.3_Missense_Mutation_p.T132M	p.T132M	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	482	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		132			Ig-like C2-type 2.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.395C>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393097	0.25118	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.77750	-1.12;-1.12	5.77	3.08	0.35506	Immunoglobulin-like fold (1);	0.711627	0.13205	N	0.405611	T	0.70002	0.3174	N	0.14661	0.345	0.09310	N	1	D;D	0.60575	0.988;0.983	P;P	0.55785	0.784;0.645	T	0.58177	-0.7682	10	0.49607	T	0.09	.	5.7455	0.18118	0.0:0.623:0.1524:0.2247	.	132;132	P10721-2;P10721	.;KIT_HUMAN	M	132	ENSP00000288135:T132M;ENSP00000390987:T132M	ENSP00000288135:T132M	T	+	2	0	KIT	55259264	0.000000	0.05858	0.003000	0.11579	0.059000	0.15707	0.450000	0.21762	0.779000	0.33543	-0.258000	0.10820	ACG		0.498	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
AASDH	132949	broad.mit.edu	37	4	57220268	57220268	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:57220268C>A	ENST00000205214.6	-	8	1500	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	AASDH_ENST00000513376.1_Missense_Mutation_p.L340F|AASDH_ENST00000502617.1_Missense_Mutation_p.L440F|AASDH_ENST00000451613.1_Missense_Mutation_p.L440F|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.L287F	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	440					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTTTTCGTCCCAAAAAAAAAA	0.363																																						uc003hbn.3																			1	Unknown(1)	p.?(1)	skin(1)	endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(1318-1320)ttG>ttT		Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.							96.0	90.0	92.0					4																	57220268		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57220268C>A	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1320G>T	4.37:g.57220268C>A	ENSP00000205214:p.Leu440Phe					AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Missense_Mutation_p.L340F|AASDH_uc011caa.2_Missense_Mutation_p.L287F|AASDH_uc011cab.2_Intron|AASDH_uc010ihc.3_Missense_Mutation_p.L440F|AASDH_uc003hbp.3_Missense_Mutation_p.L440F	p.L440F	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			7	1473	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	440					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.1320G>T	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266051	0.80358	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	6.05	5.2	0.72013	AMP-dependent synthetase/ligase (1);	0.061993	0.64402	D	0.000006	T	0.70378	0.3217	M	0.79123	2.44	0.48901	D	0.999723	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.997;0.994;0.999	T	0.75202	-0.3401	10	0.72032	D	0.01	-9.5109	16.6411	0.85127	0.1309:0.8691:0.0:0.0	.	287;440;440;440	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	F	440;340;440;287;440	ENSP00000205214:L440F;ENSP00000423760:L340F;ENSP00000409656:L440F;ENSP00000421171:L440F	ENSP00000205214:L440F	L	-	3	2	AASDH	56915025	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.725000	0.38074	1.518000	0.48934	0.650000	0.86243	TTG		0.363	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
SULT1B1	27284	broad.mit.edu	37	4	70592883	70592883	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:70592883C>T	ENST00000310613.3	-	8	1111	c.814G>A	c.(814-816)Gcc>Acc	p.A272T		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	272					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCATTTTGGGCCACGGTGAAG	0.343																																						uc003hen.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(814-816)Gcc>Acc		Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.							89.0	88.0	88.0					4																	70592883		2203	4299	6502	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70592883C>T	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.814G>A	4.37:g.70592883C>T	ENSP00000308770:p.Ala272Thr						p.A272T	NM_014465	NP_055280	O43704	ST1B1_HUMAN			7	1112	-			272					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.814G>A	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352296	0.41700	.	.	ENSG00000173597	ENST00000310613	T	0.01963	4.53	5.06	1.04	0.20106	Sulfotransferase domain (1);	0.578828	0.16513	N	0.211143	T	0.03959	0.0111	M	0.82716	2.605	0.33078	D	0.536312	B	0.32862	0.387	B	0.32762	0.152	T	0.06552	-1.0820	10	0.56958	D	0.05	.	4.7968	0.13276	0.148:0.5712:0.0:0.2807	.	272	O43704	ST1B1_HUMAN	T	272	ENSP00000308770:A272T	ENSP00000308770:A272T	A	-	1	0	SULT1B1	70627472	0.994000	0.37717	0.000000	0.03702	0.022000	0.10575	0.640000	0.24705	0.029000	0.15352	-0.345000	0.07892	GCC		0.343	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	
FRAS1	80144	broad.mit.edu	37	4	79447726	79447726	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:79447726C>G	ENST00000264895.6	+	70	11280	c.10840C>G	c.(10840-10842)Ctg>Gtg	p.L3614V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3610					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						CACCATCTACCTGATCCCTTG	0.517																																						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.(10840-10842)Ctg>Gtg		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							53.0	55.0	55.0					4																	79447726		2030	4190	6220	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79447726C>G	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.10840C>G	4.37:g.79447726C>G	ENSP00000264895:p.Leu3614Val						p.L3614V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			69	11280	+			3609					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10840C>G	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.72|17.72	3.459830|3.459830	0.63401|0.63401	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.27890|.	1.64|.	5.75|5.75	3.72|3.72	0.42706|0.42706	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.72906|0.72906	0.3519|0.3519	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.74150|0.74150	-0.3758|-0.3758	10|5	0.87932|.	D|.	0|.	.|.	9.1302|9.1302	0.36841|0.36841	0.0:0.6799:0.0:0.3201|0.0:0.6799:0.0:0.3201	.|.	3614|.	E9PHH6|.	.|.	V|R	3614|1842	ENSP00000264895:L3614V|.	ENSP00000264895:L3614V|.	L|P	+|+	1|2	2|0	FRAS1|FRAS1	79666750|79666750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	0.858000|0.858000	0.27845|0.27845	1.445000|1.445000	0.47624|0.47624	0.484000|0.484000	0.47621|0.47621	CTG|CCT		0.517	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FAT1	2195	broad.mit.edu	37	4	187522529	187522529	+	Missense_Mutation	SNP	G	G	A	rs372957295		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:187522529G>A	ENST00000441802.2	-	21	11743	c.11534C>T	c.(11533-11535)aCg>aTg	p.T3845M	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3845	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T3845M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCATTTTCCGTCAGACGGTA	0.413										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.3																			1	Substitution - Missense(1)	p.T3845M(2)	pancreas(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11533-11535)aCg>aTg		Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.		G	MET/THR	0,3804		0,0,1902	137.0	135.0	135.0		11534	-0.2	0.2	4		135	1,8229		0,1,4114	no	missense	FAT1	NM_005245.3	81	0,1,6016	AA,AG,GG		0.0122,0.0,0.0083	benign	3845/4589	187522529	1,12033	1902	4115	6017	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187522529G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11534C>T	4.37:g.187522529G>A	ENSP00000406229:p.Thr3845Met	HNSCC(5;0.00058)					p.T3845M	NM_005245	NP_005236	Q14517	FAT1_HUMAN			20	11722	-			3845			Laminin G-like.			Missense_Mutation	SNP	ENST00000441802.2	37	c.11534C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	8.023	0.760094	0.15846	0.0	1.22E-4	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.69040	-0.37	5.5	-0.202	0.13208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.162434	0.64402	N	0.000003	T	0.28830	0.0715	N	0.01352	-0.895	0.23693	N	0.997099	B	0.06786	0.001	B	0.01281	0.0	T	0.20472	-1.0274	10	0.25751	T	0.34	.	4.6258	0.12477	0.605:0.0:0.1351:0.2599	.	3845	Q14517	FAT1_HUMAN	M	3845;3847	ENSP00000406229:T3845M	ENSP00000260147:T3847M	T	-	2	0	FAT1	187759523	1.000000	0.71417	0.247000	0.24249	0.462000	0.32619	2.840000	0.48215	0.083000	0.17047	-0.440000	0.05779	ACG		0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
PCDHB7	56129	broad.mit.edu	37	5	140553530	140553530	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:140553530G>C	ENST00000231137.3	+	1	1288	c.1114G>C	c.(1114-1116)Gac>Cac	p.D372H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGGATTAGAGACAGAGATTC	0.468																																						uc003lit.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1114-1116)Gac>Cac		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							47.0	51.0	50.0					5																	140553530		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553530G>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1114G>C	5.37:g.140553530G>C	ENSP00000231137:p.Asp372His						p.D372H	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1288	+			372			Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1114G>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917414	0.73098	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.62105	0.05	4.61	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90000	0.6878	H	0.99965	5.09	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.95357	0.8452	9	0.87932	D	0	.	17.784	0.88532	0.0:0.0:1.0:0.0	.	372	Q9Y5E2	PCDB7_HUMAN	H	372;155	ENSP00000231137:D372H	ENSP00000231137:D372H	D	+	1	0	PCDHB7	140533714	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.416000	0.97383	2.244000	0.73946	0.650000	0.86243	GAC		0.468	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
GM2A	2760	broad.mit.edu	37	5	150639411	150639411	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:150639411C>T	ENST00000357164.3	+	2	502	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	59			I -> V (in dbSNP:rs153477). {ECO:0000269|PubMed:10364519, ECO:0000269|PubMed:1427911, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1915857, ECO:0000269|PubMed:2059210, ECO:0000269|PubMed:2753159}.		ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCATCATCGTTCCTGGAA	0.587																																						uc003ltr.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8						c.(175-177)atC>atT		Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.							67.0	58.0	61.0					5																	150639411		2203	4300	6503	SO:0001819	synonymous_variant	2760					lysosome|nucleolus	sphingolipid activator protein activity	g.chr5:150639411C>T		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"""cerebroside sulfate activator protein"", ""sphingolipid activator protein 3"""	613109	"""GM2 ganglioside activator protein"""			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.177C>T	5.37:g.150639411C>T						GM2A_uc011dcr.2_Silent_p.I59I|GM2A_uc003ltt.1_5'UTR	p.I59I	NM_000405	NP_000396	P17900	SAP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	342	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	59		I -> V (in dbSNP:rs153477).			B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	ENST00000357164.3	37	c.177C>T	CCDS4313.1	.	.	.	.	.	.	.	.	.	.	C	5.217	0.225557	0.09916	.	.	ENSG00000196743	ENST00000523004	.	.	.	5.36	-1.53	0.08611	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23940	-1.0174	4	.	.	.	0.5447	1.4988	0.02472	0.36:0.3314:0.1065:0.2022	.	.	.	.	C	18	.	.	R	+	1	0	GM2A	150619604	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.364000	0.07583	-0.312000	0.08741	0.655000	0.94253	CGT		0.587	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405	
FAT2	2196	broad.mit.edu	37	5	150922530	150922530	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:150922530C>G	ENST00000261800.5	-	9	8170	c.8158G>C	c.(8158-8160)Gat>Cat	p.D2720H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2720	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGACTGGATCTTGAGCTGCC	0.478																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8158-8160)Gat>Cat		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							73.0	74.0	73.0					5																	150922530		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922530C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8158G>C	5.37:g.150922530C>G	ENSP00000261800:p.Asp2720His						p.D2720H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	8171	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2720			Cadherin 24.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8158G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182862	0.38511	.	.	ENSG00000086570	ENST00000261800	T	0.51574	0.7	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.088614	0.48286	D	0.000185	T	0.64616	0.2614	L	0.50993	1.605	0.41558	D	0.988612	D	0.76494	0.999	D	0.69142	0.962	T	0.64257	-0.6450	10	0.52906	T	0.07	.	19.4978	0.95081	0.0:1.0:0.0:0.0	.	2720	Q9NYQ8	FAT2_HUMAN	H	2720	ENSP00000261800:D2720H	ENSP00000261800:D2720H	D	-	1	0	FAT2	150902723	0.998000	0.40836	0.994000	0.49952	0.934000	0.57294	4.490000	0.60319	2.608000	0.88229	0.462000	0.41574	GAT		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
SLIT3	6586	broad.mit.edu	37	5	168233574	168233574	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:168233574G>T	ENST00000519560.1	-	9	1231	c.812C>A	c.(811-813)cCa>cAa	p.P271Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.P271Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.P271Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	271	LRRNT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGCAGGATGGGGGCTCCGA	0.567																																					Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(811-813)cCa>cAa		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							65.0	62.0	63.0					5																	168233574		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168233574G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.812C>A	5.37:g.168233574G>T	ENSP00000430333:p.Pro271Gln					SLIT3_uc003mab.3_Missense_Mutation_p.P271Q|SLIT3_uc010jji.2_Missense_Mutation_p.P271Q|SLIT3_uc003mac.1_Missense_Mutation_p.P68Q	p.P271Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1232	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	271			LRRNT 2.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.812C>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509606	0.44660	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76709	-1.04;-1.04;-1.04	5.85	5.85	0.93711	.	0.216669	0.45361	D	0.000365	T	0.68979	0.3060	L	0.31065	0.9	0.49130	D	0.999759	P;P;B	0.43352	0.804;0.696;0.013	B;B;B	0.36030	0.216;0.142;0.011	T	0.70417	-0.4877	10	0.41790	T	0.15	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	271;271;271	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	Q	271	ENSP00000430333:P271Q;ENSP00000332164:P271Q;ENSP00000384890:P271Q	ENSP00000332164:P271Q	P	-	2	0	SLIT3	168166152	1.000000	0.71417	0.619000	0.29118	0.963000	0.63663	4.529000	0.60588	2.767000	0.95098	0.655000	0.94253	CCA		0.567	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
FOXI1	2299	broad.mit.edu	37	5	169535115	169535115	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:169535115C>T	ENST00000306268.6	+	2	698	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	213					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAATTTCCGCAGGAAAAG	0.488									Pendred syndrome																													uc003mai.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(637-639)Cgc>Tgc		Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.							74.0	72.0	73.0					5																	169535115		2203	4300	6503	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding	g.chr5:169535115C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.637C>T	5.37:g.169535115C>T	ENSP00000304286:p.Arg213Cys					FOXI1_uc003maj.4_Intron	p.R213C	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	682	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	213					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.637C>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441421	0.63067	.	.	ENSG00000168269	ENST00000306268	D	0.95821	-3.82	4.69	4.69	0.59074	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99243	1.0885	10	0.87932	D	0	.	13.4659	0.61254	0.1573:0.8427:0.0:0.0	.	213	Q12951	FOXI1_HUMAN	C	213	ENSP00000304286:R213C	ENSP00000304286:R213C	R	+	1	0	FOXI1	169467693	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.953000	0.49105	2.165000	0.68154	0.455000	0.32223	CGC		0.488	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	
ARID1B	57492	broad.mit.edu	37	6	157495209	157495209	+	Silent	SNP	C	C	T	rs147853607		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr6:157495209C>T	ENST00000350026.5	+	10	3055	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	ARID1B_ENST00000367148.1_Silent_p.D1018D|ARID1B_ENST00000346085.5_Silent_p.D1031D|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.D960D	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1018					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCAAAGCAGACGGCAAAGAAG	0.507																																						uc003qqp.3																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3052-3054)gaC>gaT		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	111.0	100.0	104.0		3054,3093	-1.9	1.0	6	dbSNP_134	104	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous	ARID1B	NM_017519.2,NM_020732.3	,	0,3,6496	TT,TC,CC		0.0233,0.0227,0.0231	,	1018/2237,1031/2250	157495209	3,12995	2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157495209C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3054C>T	6.37:g.157495209C>T						ARID1B_uc003qqo.3_Silent_p.D1031D|ARID1B_uc003qqn.3_Silent_p.D1018D	p.D1018D	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	9	3054	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1018					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.3054C>T	CCDS5251.2																																																																																				0.507	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
GCC1	79571	broad.mit.edu	37	7	127222986	127222986	+	Silent	SNP	A	A	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:127222986A>G	ENST00000321407.2	-	2	1834	c.1410T>C	c.(1408-1410)gcT>gcC	p.A470A	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	470					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCCATCAGCAGCCTCCGAGC	0.542																																						uc003vma.3																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1408-1410)gcT>gcC		Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.							99.0	99.0	99.0					7																	127222986		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222986A>G	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1410T>C	7.37:g.127222986A>G							p.A470A	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			1	1828	-			470					Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.1410T>C	CCDS5796.1																																																																																				0.542	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523	
OR2A25	392138	broad.mit.edu	37	7	143771552	143771552	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:143771552G>A	ENST00000408898.2	+	1	278	c.240G>A	c.(238-240)atG>atA	p.M80I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M80I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGCCCCAGATGCTGGTGAACC	0.547																																						uc011ktx.2																			1	Substitution - Missense(1)	p.M80I(2)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(238-240)atG>atA		Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.							79.0	83.0	82.0					7																	143771552		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771552G>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.240G>A	7.37:g.143771552G>A	ENSP00000386167:p.Met80Ile						p.M80I	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			0	240	+	Melanoma(164;0.0783)		80					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.240G>A	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106471	0.56291	.	.	ENSG00000221933	ENST00000408898	T	0.05513	3.43	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24851	0.0603	M	0.75447	2.3	0.38215	D	0.940587	D	0.64830	0.994	D	0.72338	0.977	T	0.01935	-1.1244	9	0.72032	D	0.01	-14.7611	15.5662	0.76294	0.0:0.0:1.0:0.0	.	80	A4D2G3	O2A25_HUMAN	I	80	ENSP00000386167:M80I	ENSP00000386167:M80I	M	+	3	0	OR2A25	143402485	0.992000	0.36948	1.000000	0.80357	0.964000	0.63967	1.837000	0.39201	2.531000	0.85337	0.563000	0.77884	ATG		0.547	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1		
ABCB8	11194	broad.mit.edu	37	7	150737710	150737710	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:150737710C>G	ENST00000297504.6	+	12	1494	c.1428C>G	c.(1426-1428)aaC>aaG	p.N476K	ABCB8_ENST00000498578.1_Missense_Mutation_p.N459K|ABCB8_ENST00000358849.4_Missense_Mutation_p.N459K|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000542328.1_Missense_Mutation_p.N371K			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	476	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CATTTCAGAACGTCTGCTTCA	0.632																																						uc003wil.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1426-1428)aaC>aaG		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.							68.0	71.0	70.0					7																	150737710		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150737710C>G	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1428C>G	7.37:g.150737710C>G	ENSP00000297504:p.Asn476Lys					ABCB8_uc010lpw.1_Missense_Mutation_p.N348K|ABCB8_uc010lpx.3_Missense_Mutation_p.N459K|ABCB8_uc011kvd.2_Missense_Mutation_p.N371K|ABCB8_uc003wim.4_Missense_Mutation_p.N254K|ABCB8_uc003wik.4_Missense_Mutation_p.N459K	p.N476K	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1521	+			476			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1428C>G		.	.	.	.	.	.	.	.	.	.	C	13.39	2.222045	0.39300	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	4.53	-3.49	0.04724	ABC transporter-like (1);	0.048992	0.85682	D	0.000000	D	0.89653	0.6777	L	0.48642	1.525	0.80722	D	1	P;P;P;P	0.50369	0.934;0.821;0.821;0.888	P;P;P;P	0.55824	0.785;0.614;0.614;0.785	D	0.86915	0.2063	10	0.72032	D	0.01	1.2128	11.4108	0.49925	0.0:0.3652:0.0:0.6348	.	371;459;476;459	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	K	459;442;476;371;459	ENSP00000351717:N459K;ENSP00000297504:N476K;ENSP00000438776:N371K;ENSP00000418271:N459K	ENSP00000297504:N476K	N	+	3	2	ABCB8	150368643	0.090000	0.21635	0.496000	0.27539	0.248000	0.25809	-0.600000	0.05693	-0.645000	0.05458	-0.258000	0.10820	AAC		0.632	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188	
SGK223	157285	broad.mit.edu	37	8	8235473	8235473	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:8235473G>T	ENST00000520004.1	-	3	710	c.446C>A	c.(445-447)cCt>cAt	p.P149H	SGK223_ENST00000330777.4_Missense_Mutation_p.P149H			Q86YV5	SG223_HUMAN		149							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATTGCCATCAGGGGAGGTAGA	0.642																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(445-447)cCt>cAt		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							67.0	72.0	71.0					8																	8235473		2009	4179	6188	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8235473G>T																												ENST00000520004.1:c.446C>A	8.37:g.8235473G>T	ENSP00000428054:p.Pro149His						p.P149H	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			1	446	-			149					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.446C>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	5.497	0.276703	0.10403	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.56103	0.48;0.48	5.01	4.12	0.48240	.	1.331090	0.05562	N	0.569376	T	0.37892	0.1020	N	0.14661	0.345	0.09310	N	1	P	0.36438	0.553	B	0.31869	0.137	T	0.33954	-0.9848	10	0.56958	D	0.05	.	10.3368	0.43854	0.0:0.1455:0.7038:0.1507	.	149	Q86YV5	SG223_HUMAN	H	149	ENSP00000330930:P149H;ENSP00000428054:P149H	ENSP00000330930:P149H	P	-	2	0	AC068353.1	8272883	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.296000	0.19083	1.398000	0.46701	0.655000	0.94253	CCT		0.642	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
PRKDC	5591	broad.mit.edu	37	8	48869810	48869810	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:48869810C>T	ENST00000314191.2	-	3	301	c.245G>A	c.(244-246)aGa>aAa	p.R82K	PRKDC_ENST00000338368.3_Missense_Mutation_p.R82K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	82					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GATTTCTTCTCTACATTCACG	0.318								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(244-246)aGa>aAa	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.							65.0	60.0	61.0					8																	48869810		1797	4071	5868	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48869810C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.245G>A	8.37:g.48869810C>T	ENSP00000313420:p.Arg82Lys					PRKDC_uc003xqj.3_Missense_Mutation_p.R82K|MCM4_uc003xqk.2_5'Flank|MCM4_uc003xql.2_5'Flank|MCM4_uc011ldi.2_5'Flank|MCM4_uc010lxw.2_5'Flank	p.R82K	NM_006904	NP_008835	P78527	PRKDC_HUMAN			2	302	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	82					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.245G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.990521	0.74589	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.74315	-0.78;-0.83	5.16	5.16	0.70880	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	.	.	.	0.58432	D	0.999994	P;P;P	0.49559	0.669;0.925;0.816	B;B;B	0.42692	0.19;0.395;0.288	T	0.67688	-0.5606	9	0.22706	T	0.39	.	19.0087	0.92863	0.0:1.0:0.0:0.0	.	82;82;82	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	K	82	ENSP00000313420:R82K;ENSP00000345182:R82K	ENSP00000313420:R82K	R	-	2	0	PRKDC	49032363	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.387000	0.73191	2.532000	0.85374	0.655000	0.94253	AGA		0.318	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
TSNARE1	203062	broad.mit.edu	37	8	143425640	143425640	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:143425640G>A	ENST00000307180.3	-	4	549	c.432C>T	c.(430-432)caC>caT	p.H144H	TSNARE1_ENST00000524325.1_Silent_p.H144H|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Silent_p.H144H	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	144					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGCAGCTGGTGGTGCTTGC	0.667																																						uc003ywj.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(430-432)caC>caT		Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.							42.0	44.0	44.0					8																	143425640		2203	4300	6503	SO:0001819	synonymous_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143425640G>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.432C>T	8.37:g.143425640G>A						TSNARE1_uc011lju.2_Silent_p.H144H|TSNARE1_uc003ywk.3_Silent_p.H144H|TSNARE1_uc003ywl.4_Intron	p.H144H	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			2	471	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		144					B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	c.432C>T	CCDS6384.1																																																																																				0.667	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003	
ZNF658	26149	broad.mit.edu	37	9	40772759	40772759	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr9:40772759G>A	ENST00000602553.1	-	5	2810	c.2516C>T	c.(2515-2517)aCa>aTa	p.T839I	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.T839I			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	839					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAGAGGTGTGTTCTTTGGGA	0.428																																						uc004abs.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(2515-2517)aCa>aTa		Homo sapiens zinc finger protein 658 (ZNF658), mRNA.							34.0	31.0	32.0					9																	40772759		2201	4288	6489	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772759G>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2516C>T	9.37:g.40772759G>A	ENSP00000473484:p.Thr839Ile					ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.T839I	p.T839I	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	2668	-			839					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2516C>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	g	10.72	1.430676	0.25726	.	.	ENSG00000196409	ENST00000377626	T	0.01043	5.41	1.97	1.97	0.26223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01189	0.0039	L	0.39397	1.21	0.09310	N	1	B	0.30179	0.271	B	0.24541	0.054	T	0.46205	-0.9208	9	0.59425	D	0.04	.	5.8226	0.18536	0.0:0.0:0.6856:0.3144	.	839	Q5TYW1	ZN658_HUMAN	I	839	ENSP00000366853:T839I	ENSP00000366853:T839I	T	-	2	0	ZNF658	40762759	0.000000	0.05858	0.001000	0.08648	0.977000	0.68977	0.443000	0.21644	1.453000	0.47775	0.518000	0.50308	ACA		0.428	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
SAPCD2	89958	broad.mit.edu	37	9	139959203	139959203	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr9:139959203C>T	ENST00000409687.3	-	6	1220	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	RP11-229P13.23_ENST00000456356.2_RNA|RP11-229P13.22_ENST00000435463.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	365						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											TTCTCCTGCTCCAGCTGCGTG	0.647											OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011men.2																			0											c.(1093-1095)Gag>Aag		Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA.							44.0	39.0	40.0					9																	139959203		2196	4291	6487	SO:0001583	missense	89958					cytoplasm|nucleus		g.chr9:139959203C>T	BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.1093G>A	9.37:g.139959203C>T	ENSP00000386348:p.Glu365Lys		OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652		p.E365K	NM_178448	NP_848543	Q86UD0	CI140_HUMAN			5	1209	-			365						Missense_Mutation	SNP	ENST00000409687.3	37	c.1093G>A	CCDS7027.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162870	0.78226	.	.	ENSG00000186193	ENST00000409687	T	0.60424	0.19	3.87	2.95	0.34219	.	0.000000	0.64402	D	0.000001	T	0.70640	0.3247	M	0.77820	2.39	0.46078	D	0.998857	D	0.61080	0.989	P	0.60473	0.875	T	0.73145	-0.4075	10	0.66056	D	0.02	0.64	10.9292	0.47207	0.0:0.8074:0.1925:0.0	.	365	Q86UD0	CI140_HUMAN	K	365	ENSP00000386348:E365K	ENSP00000386348:E365K	E	-	1	0	C9orf140	139079024	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	4.026000	0.57232	0.803000	0.34113	0.313000	0.20887	GAG		0.647	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2	NM_178448	
TUBBP5	643224	broad.mit.edu	37	9	141071420	141071420	+	RNA	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr9:141071420G>A	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.D347N(3)									CTGGTTCCCCGACAACGTAAA	0.512																																						uc010ncq.3																			3	Substitution - Missense(3)	p.D347N(3)	urinary_tract(2)|kidney(1)										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141071420G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071420G>A														4		+									Missense_Mutation	SNP	ENST00000503395.1	37																																																																																						0.512	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
HCCS	3052	broad.mit.edu	37	X	11139917	11139917	+	Missense_Mutation	SNP	G	G	A	rs372501217		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:11139917G>A	ENST00000321143.4	+	7	996	c.794G>A	c.(793-795)cGt>cAt	p.R265H	HCCS_ENST00000380762.4_Missense_Mutation_p.R265H|HCCS_ENST00000380763.3_Missense_Mutation_p.R265H|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	265					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						GCTTGGTGGCGTTGGACCTCG	0.428																																					Ovarian(86;1338 1347 1462 10340 37882)	uc004cul.2																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(793-795)cGt>cAt		Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	110.0	86.0	94.0		794,794,794	5.0	1.0	X		94	1,6727		0,1,2427,1872	no	missense,missense,missense	HCCS	NM_001122608.2,NM_001171991.2,NM_005333.4	29,29,29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging	265/269,265/269,265/269	11139917	1,10562	2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139917G>A		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.794G>A	X.37:g.11139917G>A	ENSP00000326579:p.Arg265His					HCCS_uc004cuk.3_Missense_Mutation_p.R265H|HCCS_uc004cuj.3_Missense_Mutation_p.R265H	p.R265H	NM_001171991	NP_005324	P53701	CCHL_HUMAN			6	974	+			265					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.794G>A	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.608078	0.87258	0.0	1.49E-4	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.85629	-2.01;-2.01;-2.01	5.84	4.97	0.65823	.	0.047096	0.85682	D	0.000000	D	0.92828	0.7719	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93384	0.6746	10	0.87932	D	0	-5.5777	11.7602	0.51898	0.087:0.0:0.913:0.0	.	265	P53701	CCHL_HUMAN	H	265	ENSP00000326579:R265H;ENSP00000370140:R265H;ENSP00000370139:R265H	ENSP00000326579:R265H	R	+	2	0	HCCS	11049838	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.239000	0.95389	1.216000	0.43427	0.600000	0.82982	CGT		0.428	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1		
MAGEB6	158809	broad.mit.edu	37	X	26212632	26212632	+	Silent	SNP	G	G	A	rs141448892		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:26212632G>A	ENST00000379034.1	+	2	818	c.669G>A	c.(667-669)aaG>aaA	p.K223K		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	223	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ACATGCTGAAGTGTGTCCGCA	0.463																																						uc022buc.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(667-669)aaG>aaA		Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.							86.0	70.0	75.0					X																	26212632		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212632G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.669G>A	X.37:g.26212632G>A						MAGEB6_uc004dbr.3_Silent_p.K223K	p.K223K	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			0	669	+			223			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.669G>A	CCDS14217.1																																																																																				0.463	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523	
CXorf22	170063	broad.mit.edu	37	X	35985763	35985763	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:35985763C>T	ENST00000297866.5	+	10	1694	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	543										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CGTAATCCCACGGGAAAGTTT	0.353																																						uc004ddj.3																			0		p.P542P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1627-1629)aCg>aTg		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							108.0	91.0	96.0					X																	35985763		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35985763C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1628C>T	X.37:g.35985763C>T	ENSP00000297866:p.Thr543Met					CXorf22_uc010ngv.3_Non-coding_Transcript	p.T543M	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			9	1694	+			543					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1628C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447937	0.26074	.	.	ENSG00000165164	ENST00000297866	T	0.18174	2.23	5.35	1.64	0.23874	.	0.175720	0.48286	D	0.000183	T	0.34279	0.0892	M	0.70275	2.135	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.10382	-1.0632	10	0.62326	D	0.03	-37.034	8.4928	0.33110	0.0:0.6587:0.0:0.3413	.	543	Q6ZTR5	CX022_HUMAN	M	543	ENSP00000297866:T543M	ENSP00000297866:T543M	T	+	2	0	CXorf22	35895684	0.198000	0.23374	0.000000	0.03702	0.002000	0.02628	0.481000	0.22260	-0.092000	0.12417	-0.191000	0.12829	ACG		0.353	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
ZNF157	7712	broad.mit.edu	37	X	47272290	47272290	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:47272290C>T	ENST00000377073.3	+	4	904	c.818C>T	c.(817-819)cCc>cTc	p.P273L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	273					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGGGAGAAACCCTATGAATGT	0.448																																						uc004dhr.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(817-819)cCc>cTc		Homo sapiens zinc finger protein 157 (ZNF157), mRNA.							50.0	46.0	47.0					X																	47272290		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272290C>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.818C>T	X.37:g.47272290C>T	ENSP00000366273:p.Pro273Leu						p.P273L	NM_003446	NP_003437	P51786	ZN157_HUMAN			3	887	+			273					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.818C>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264164	0.59431	.	.	ENSG00000147117	ENST00000377073	T	0.17054	2.3	2.79	2.79	0.32731	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38374	0.1038	M	0.74546	2.27	0.40966	D	0.984667	D	0.89917	1.0	D	0.79108	0.992	T	0.34502	-0.9826	9	0.62326	D	0.03	.	10.8389	0.46704	0.0:1.0:0.0:0.0	.	273	P51786	ZN157_HUMAN	L	273	ENSP00000366273:P273L	ENSP00000366273:P273L	P	+	2	0	ZNF157	47157234	0.547000	0.26465	0.986000	0.45419	0.995000	0.86356	1.535000	0.36061	1.677000	0.50941	0.600000	0.82982	CCC		0.448	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446	
MORF4L2	9643	broad.mit.edu	37	X	102931771	102931771	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:102931771C>T	ENST00000441076.2	-	4	489	c.185G>A	c.(184-186)cGc>cAc	p.R62H	MORF4L2_ENST00000422154.2_Missense_Mutation_p.R62H|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R62H|MORF4L2_ENST00000423833.2_Missense_Mutation_p.R62H|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R62H|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R62H|MORF4L2_ENST00000492116.1_5'UTR	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	62					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTCTGCAGAGCGACCACCCCA	0.532																																						uc022cbw.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(184-186)cGc>cAc		Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.							64.0	54.0	58.0					X																	102931771		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931771C>T	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.185G>A	X.37:g.102931771C>T	ENSP00000391969:p.Arg62His					MORF4L2_uc004ekw.3_Missense_Mutation_p.R62H|MORF4L2_uc004ela.3_Missense_Mutation_p.R62H|MORF4L2_uc004elb.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekx.3_Missense_Mutation_p.R62H|MORF4L2_uc004eky.3_Missense_Mutation_p.R62H|MORF4L2_uc010nos.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekz.3_Missense_Mutation_p.R62H|MORF4L2_uc011mry.2_Missense_Mutation_p.R62H|MORF4L2_uc011mrz.2_Missense_Mutation_p.R62H|MORF4L2_uc004elc.3_Missense_Mutation_p.R62H|MORF4L2_uc004ele.3_Missense_Mutation_p.R62H|MORF4L2_uc004elf.3_Missense_Mutation_p.R62H|MORF4L2_uc011msa.2_Missense_Mutation_p.R62H|MORF4L2_uc011msb.2_Missense_Mutation_p.R62H|MORF4L2_uc011msc.2_Missense_Mutation_p.R62H|MORF4L2_uc011msd.2_Missense_Mutation_p.R62H|MORF4L2_uc004eld.3_Missense_Mutation_p.R62H	p.R62H	NM_012286	NP_036418	Q15014	MO4L2_HUMAN			0	185	-			62					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.185G>A	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	9.076	0.998163	0.19043	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614;ENST00000422355	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	4.43	2.58	0.30949	.	0.447811	0.19288	N	0.117996	T	0.12050	0.0293	N	0.12182	0.205	0.23254	N	0.998031	P	0.36616	0.561	B	0.25759	0.063	T	0.15150	-1.0447	10	0.27785	T	0.31	-7.127	6.3443	0.21341	0.212:0.587:0.201:0.0	.	62	Q15014	MO4L2_HUMAN	H	62;62;62;62;44;62;62;62;62;62;62	ENSP00000353643:R62H;ENSP00000415476:R62H;ENSP00000394417:R62H;ENSP00000410532:R62H;ENSP00000391969:R62H;ENSP00000416120:R62H	ENSP00000353643:R62H	R	-	2	0	MORF4L2	102818427	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	1.848000	0.39309	0.556000	0.29098	-0.229000	0.12294	CGC		0.532	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286	
MID2	11043	broad.mit.edu	37	X	107084129	107084129	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:107084129C>T	ENST00000262843.6	+	2	782	c.234C>T	c.(232-234)acC>acT	p.T78T	MID2_ENST00000443968.2_Silent_p.T78T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	78					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGTGTCCTACCTGCAGGTATG	0.512																																						uc004enl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(232-234)acC>acT		Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.							146.0	122.0	131.0					X																	107084129		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084129C>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.234C>T	X.37:g.107084129C>T						MID2_uc004enk.3_Silent_p.T78T	p.T78T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			1	807	+			78					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.234C>T	CCDS14532.2																																																																																				0.512	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216	
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						uc004eoc.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)ggcfs		Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.G591fs	NM_003604	NP_003595	O14654	IRS4_HUMAN			0	1805_1806	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
ELF4	2000	broad.mit.edu	37	X	129201458	129201458	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:129201458delG	ENST00000308167.5	-	9	1609	c.1230delC	c.(1228-1230)cccfs	p.P410fs	ELF4_ENST00000335997.7_Frame_Shift_Del_p.P410fs	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCGACCCCACGGGGGCCACTC	0.592			T	ERG	AML																																	uc004evd.4				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1228-1230)cccfs		Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.							48.0	49.0	48.0					X																	129201458		2203	4299	6502	SO:0001589	frameshift_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201458delG	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1230delC	X.37:g.129201458delG	ENSP00000311280:p.Pro410fs					ELF4_uc004eve.4_Frame_Shift_Del_p.P410fs	p.P410fs	NM_001421	NP_001412	Q99607	ELF4_HUMAN			8	1615	-			410						Frame_Shift_Del	DEL	ENST00000308167.5	37	c.1230delC	CCDS14617.1																																																																																				0.592	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	
IGSF1	3547	broad.mit.edu	37	X	130416634	130416634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:130416634G>A	ENST00000361420.3	-	7	1109	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.R344*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.R335*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.R335*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	344	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACTGGTCCTCGACACCGTAGG	0.488																																						uc004ewe.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1030-1032)Cga>Tga		Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.							137.0	114.0	122.0					X																	130416634		2203	4300	6503	SO:0001587	stop_gained	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416634G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1030C>T	X.37:g.130416634G>A	ENSP00000355010:p.Arg344*					IGSF1_uc004ewd.3_Nonsense_Mutation_p.R344*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.R335*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.R324*	p.R344*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN			6	1313	-			344			Ig-like C2-type 4.		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	ENST00000361420.3	37	c.1030C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739146	0.69304	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	4.78	2.94	0.34122	.	1.604380	0.03913	N	0.282271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	6.8428	0.23973	0.0:0.197:0.6073:0.1957	.	.	.	.	X	335;344;335;344	.	ENSP00000355010:R344X	R	-	1	2	IGSF1	130244315	0.071000	0.21146	0.004000	0.12327	0.131000	0.20780	0.805000	0.27112	0.516000	0.28340	0.594000	0.82650	CGA		0.488	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
DDX26B	203522	broad.mit.edu	37	X	134655171	134655171	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:134655171C>T	ENST00000370752.4	+	2	451	c.117C>T	c.(115-117)cgC>cgT	p.R39R	DDX26B-AS1_ENST00000430820.1_RNA|DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	39	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CGCAGCTGCGCGCCCGGGACC	0.632																																						uc004eyw.4																			0				large_intestine(1)|lung(8)	9						c.(115-117)cgC>cgT		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.							18.0	17.0	17.0					X																	134655171		2195	4290	6485	SO:0001819	synonymous_variant	203522							g.chrX:134655171C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.117C>T	X.37:g.134655171C>T							p.R39R	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			1	480	+	Acute lymphoblastic leukemia(192;6.56e-05)		39			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	c.117C>T	CCDS35401.1																																																																																				0.632	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	
