#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
PIK3CD	5293	broad.mit.edu	37	1	9780231	9780231	+	Silent	SNP	C	C	T	rs200295565		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:9780231C>T	ENST00000377346.4	+	11	1596	c.1401C>T	c.(1399-1401)agC>agT	p.S467S	PIK3CD_ENST00000543390.1_Silent_p.S134S|PIK3CD_ENST00000361110.2_Silent_p.S432S|PIK3CD_ENST00000536656.1_Silent_p.S432S	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	467	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	ACACGGATAGCGCCGCTGCCC	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15411	0.0		0.0	False		,,,				2504	0.0					uc001aqb.3																			0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(1399-1401)AGC>AGT		catalytic phosphatidylinositol 3-kinase delta							50.0	49.0	49.0					1																	9780231		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9780231C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1401C>T	1.37:g.9780231C>T						PIK3CD_uc010oaf.1_Silent_p.S467S|PIK3CD_uc001aqe.3_Silent_p.S432S	p.S467S	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	11	1609	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	467					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.1401C>T	CCDS104.1																																																																																				0.662	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026	
MUL1	79594	broad.mit.edu	37	1	20828674	20828674	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:20828674G>A	ENST00000264198.3	-	3	353	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	73					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TTAACAGACCGCACAGCTCCT	0.433																																						uc001bdi.3																			0					0						c.(217-219)CGG>TGG		mitochondrial ubiquitin ligase activator of NFKB							90.0	91.0	91.0					1																	20828674		2203	4300	6503	SO:0001583	missense	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20828674G>A	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.217C>T	1.37:g.20828674G>A	ENSP00000264198:p.Arg73Trp						p.R73W	NM_024544	NP_078820	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	374	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	73			Mitochondrial intermembrane (Potential).		B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	c.217C>T	CCDS208.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229176	0.39399	.	.	ENSG00000090432	ENST00000264198	T	0.31510	1.49	6.17	4.24	0.50183	.	0.085304	0.64402	D	0.000003	T	0.32526	0.0832	M	0.63428	1.95	0.53005	D	0.999963	B	0.09022	0.002	B	0.01281	0.0	T	0.11131	-1.0600	10	0.72032	D	0.01	-18.4184	12.5638	0.56297	0.0:0.0:0.5373:0.4627	.	73	Q969V5	MUL1_HUMAN	W	73	ENSP00000264198:R73W	ENSP00000264198:R73W	R	-	1	2	MUL1	20701261	0.953000	0.32496	0.969000	0.41365	0.756000	0.42949	2.901000	0.48695	0.856000	0.35383	0.655000	0.94253	CGG		0.433	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544	
ZNF644	84146	broad.mit.edu	37	1	91404393	91404393	+	Missense_Mutation	SNP	C	C	T	rs267598765		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:91404393C>T	ENST00000370440.1	-	3	2735	c.2518G>A	c.(2518-2520)Gtt>Att	p.V840I	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.V840I|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	840					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTGCAAAACGACAACAGTC	0.363																																						uc001dnw.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(2518-2520)GTT>ATT		zinc finger protein 644 isoform 1							69.0	72.0	71.0					1																	91404393		2203	4297	6500	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91404393C>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2518G>A	1.37:g.91404393C>T	ENSP00000359469:p.Val840Ile					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.V840I	p.V840I	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	2660	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	840					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.2518G>A	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688640	0.48097	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.53640	0.61;0.61	5.7	5.7	0.88788	.	0.236438	0.34932	N	0.003574	T	0.20941	0.0504	L	0.32530	0.975	0.34770	D	0.733633	P	0.43938	0.822	B	0.30716	0.119	T	0.12708	-1.0537	10	0.37606	T	0.19	-12.4562	16.8263	0.85933	0.0:0.8718:0.1282:0.0	.	840	Q9H582	ZN644_HUMAN	I	840;840;412	ENSP00000359469:V840I;ENSP00000337008:V840I	ENSP00000337008:V840I	V	-	1	0	ZNF644	91176981	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.784000	0.55416	2.692000	0.91855	0.591000	0.81541	GTT		0.363	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
AMPD1	270	broad.mit.edu	37	1	115220069	115220069	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:115220069G>A	ENST00000520113.2	-	10	1405	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	AMPD1_ENST00000369538.3_Missense_Mutation_p.R460C|AMPD1_ENST00000353928.6_Missense_Mutation_p.R431C			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	464					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCAGGACTGCGGCCATAGATG	0.567																																						uc001efe.1																			0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1291-1293)CGC>TGC		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)						107.0	91.0	97.0					1																	115220069		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115220069G>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1390C>T	1.37:g.115220069G>A	ENSP00000430075:p.Arg464Cys					AMPD1_uc001eff.1_Missense_Mutation_p.R427C	p.R431C	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1375	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	431					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1291C>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219338	0.58560	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82893	-1.66;-1.66;-1.66	5.85	5.85	0.93711	Adenosine/AMP deaminase (1);	0.044093	0.85682	D	0.000000	D	0.84051	0.5387	M	0.81239	2.535	0.80722	D	1	B;P	0.49185	0.16;0.92	B;P	0.48368	0.064;0.575	D	0.86048	0.1524	10	0.59425	D	0.04	-15.5608	14.9543	0.71101	0.0:0.0:0.8573:0.1427	.	460;431	Q5TF02;P23109	.;AMPD1_HUMAN	C	464;460;431	ENSP00000430075:R464C;ENSP00000358551:R460C;ENSP00000316520:R431C	ENSP00000316520:R431C	R	-	1	0	AMPD1	115021592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.753000	0.55180	2.771000	0.95319	0.561000	0.74099	CGC		0.567	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		
PPIAL4G	644591	broad.mit.edu	37	1	143767630	143767630	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:143767630G>A	ENST00000419275.1	-	1	251	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	73	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.T73T(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ACTTGTCACCGGTGCCATTAG	0.468																																						uc001ejt.2																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(217-219)ACC>ACT		peptidylprolyl isomerase A (cyclophilin A)-like							64.0	61.0	62.0					1																	143767630		1568	3565	5133	SO:0001819	synonymous_variant	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767630G>A		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.219C>T	1.37:g.143767630G>A							p.T73T	NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN			1	252	-			73			PPIase cyclophilin-type.		A1L431	Silent	SNP	ENST00000419275.1	37	c.219C>T	CCDS41375.1																																																																																				0.468	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068	
LOC728989	728989	broad.mit.edu	37	1	146494538	146494538	+	IGR	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:146494538G>A								RP4-704D21.2 (19361 upstream) : RNVU1-8 (56756 downstream)																							TGGCAGGGCCGCTCTCCAGAA	0.572																																						uc001epd.2																			0					0						c.(460-462)GCG>GTG		SubName: Full=cDNA FLJ59595, highly similar to Homo sapiens phosphodiesterase 4D interacting protein, transcript variant 1, mRNA;																																				SO:0001628	intergenic_variant	728989							g.chr1:146494538G>A																													1.37:g.146494538G>A							p.A154V	NR_024442						4	535	-									Missense_Mutation	SNP		37	c.461C>T																																																																																				0	0.572								
PEAR1	375033	broad.mit.edu	37	1	156879622	156879622	+	Silent	SNP	C	C	T	rs370870570		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:156879622C>T	ENST00000338302.3	+	13	1716	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	PEAR1_ENST00000292357.7_Silent_p.A497A			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	497	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCAGTGTGCCCATGAGGCAG	0.662																																						uc001fqj.1																			0				ovary(2)|central_nervous_system(1)	3						c.(1489-1491)GCC>GCT		platelet endothelial aggregation receptor 1							48.0	49.0	48.0					1																	156879622		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156879622C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1491C>T	1.37:g.156879622C>T						PEAR1_uc001fqk.1_Silent_p.A122A	p.A497A	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			12	1607	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		497			EGF-like 6.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.1491C>T	CCDS30892.1																																																																																				0.662	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471	
PVRL4	81607	broad.mit.edu	37	1	161049529	161049529	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:161049529C>T	ENST00000368012.3	-	2	592	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	97	Ig-like V-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCTCCACGCGGCCCTCGTA	0.687																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			0				ovary(2)	2						c.(289-291)CGC>CAC		poliovirus receptor-related 4 precursor							23.0	24.0	24.0					1																	161049529		2182	4276	6458	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161049529C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.290G>A	1.37:g.161049529C>T	ENSP00000356991:p.Arg97His						p.R97H	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		2	589	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		97			Ig-like V-type 1.|Extracellular (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.290G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843901	0.71488	.	.	ENSG00000143217	ENST00000368012	T	0.39406	1.08	5.51	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101080	0.44688	D	0.000433	T	0.27384	0.0672	M	0.71206	2.165	0.80722	D	1	P	0.42757	0.789	B	0.34590	0.186	T	0.36529	-0.9744	10	0.87932	D	0	.	11.3584	0.49630	0.0:0.9128:0.0:0.0872	.	97	Q96NY8	PVRL4_HUMAN	H	97	ENSP00000356991:R97H	ENSP00000356991:R97H	R	-	2	0	PVRL4	159316153	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.996000	0.49449	2.574000	0.86865	0.650000	0.86243	CGC		0.687	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916	
SIPA1L2	57568	broad.mit.edu	37	1	232561420	232561420	+	Silent	SNP	G	G	A	rs370081594		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:232561420G>A	ENST00000366630.1	-	17	4903	c.4545C>T	c.(4543-4545)aaC>aaT	p.N1515N	SIPA1L2_ENST00000262861.4_Silent_p.N1515N|SIPA1L2_ENST00000308942.4_Silent_p.N589N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1515					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACAGAATGTCGTTGGGCAGGG	0.642																																						uc001hvg.2																			0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(4543-4545)AAC>AAT		signal-induced proliferation-associated 1 like		G		1,4403	2.1+/-5.4	0,1,2201	71.0	85.0	80.0		4545	-0.6	1.0	1		80	0,8590		0,0,4295	no	coding-synonymous	SIPA1L2	NM_020808.3		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		1515/1723	232561420	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232561420G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4545C>T	1.37:g.232561420G>A						SIPA1L2_uc001hvf.2_Silent_p.N589N	p.N1515N	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			16	4703	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1515					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.4545C>T	CCDS41474.1																																																																																				0.642	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
SIPA1L2	57568	broad.mit.edu	37	1	232626679	232626679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:232626679G>A	ENST00000366630.1	-	4	2105	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R583*|SIPA1L2_ENST00000486472.1_5'UTR			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	583					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGCCTGTCGCAAACACTGA	0.463																																						uc001hvg.2																			0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1747-1749)CGA>TGA		signal-induced proliferation-associated 1 like							137.0	140.0	139.0					1																	232626679		1986	4204	6190	SO:0001587	stop_gained	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232626679G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1747C>T	1.37:g.232626679G>A	ENSP00000355589:p.Arg583*						p.R583*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			3	1905	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	583					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	ENST00000366630.1	37	c.1747C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	42	9.224472	0.99106	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.28	3.16	0.36331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9199	13.7568	0.62942	0.0:0.0:0.6509:0.3491	.	.	.	.	X	583	.	ENSP00000262861:R583X	R	-	1	2	SIPA1L2	230693302	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.207000	0.42788	0.606000	0.29965	0.650000	0.86243	CGA		0.463	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
OR2T6	254879	broad.mit.edu	37	1	248551010	248551010	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:248551010T>C	ENST00000355728.2	+	1	101	c.101T>C	c.(100-102)gTc>gCc	p.V34A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V34A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTTGTGCCGTCTTCTTCATG	0.463																																						uc001iei.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(100-102)GTC>GCC		olfactory receptor, family 2, subfamily T,							192.0	168.0	176.0					1																	248551010		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551010T>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.101T>C	1.37:g.248551010T>C	ENSP00000347965:p.Val34Ala						p.V34A	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	101	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		34			Helical; Name=1; (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.101T>C	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	T	9.492	1.100955	0.20552	.	.	ENSG00000198104	ENST00000355728	T	0.03358	3.96	4.9	4.9	0.64082	.	1.264950	0.05597	N	0.575585	T	0.06735	0.0172	L	0.55017	1.72	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.29701	-1.0003	10	0.72032	D	0.01	.	8.3045	0.32034	0.1764:0.0:0.0:0.8236	.	34	Q8NHC8	OR2T6_HUMAN	A	34	ENSP00000347965:V34A	ENSP00000347965:V34A	V	+	2	0	OR2T6	246617633	0.001000	0.12720	0.767000	0.31495	0.383000	0.30230	1.085000	0.30840	1.962000	0.57031	0.523000	0.50628	GTC		0.463	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471	
EPC1	80314	broad.mit.edu	37	10	32580102	32580102	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:32580102T>C	ENST00000263062.8	-	6	1233	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	EPC1_ENST00000375110.2_Missense_Mutation_p.K272E|EPC1_ENST00000319778.6_Missense_Mutation_p.K322E	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	322					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTATTAACTTTGAACTCCTTC	0.333																																						uc001iwg.1																			0				ovary(3)|central_nervous_system(1)	4						c.(964-966)AAA>GAA		enhancer of polycomb 1							133.0	121.0	125.0					10																	32580102		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32580102T>C	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.964A>G	10.37:g.32580102T>C	ENSP00000263062:p.Lys322Glu					EPC1_uc001iwi.3_Missense_Mutation_p.K272E|EPC1_uc009xlt.2_Missense_Mutation_p.K272E|EPC1_uc001iwh.1_Missense_Mutation_p.K322E	p.K322E	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN			6	1234	-		Prostate(175;0.0199)	322					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.964A>G	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.597092	0.46318	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.68025	-0.3;-0.3;-0.3	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	M	0.65975	2.015	0.58432	D	0.999995	B;B;B;B	0.30686	0.264;0.29;0.127;0.001	B;B;B;B	0.34590	0.186;0.12;0.087;0.011	T	0.62172	-0.6910	10	0.12103	T	0.63	-17.1925	16.1135	0.81278	0.0:0.0:0.0:1.0	.	322;272;322;322	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	E	272;322;322	ENSP00000364251:K272E;ENSP00000318559:K322E;ENSP00000263062:K322E	ENSP00000263062:K322E	K	-	1	0	EPC1	32620108	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.175000	0.77632	2.267000	0.75376	0.383000	0.25322	AAA		0.333	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1		
TBC1D12	23232	broad.mit.edu	37	10	96163266	96163266	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:96163266C>A	ENST00000225235.4	+	1	1006	c.896C>A	c.(895-897)cCc>cAc	p.P299H		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	299							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GTGCCCTTGCCCGCCGCGGAG	0.692																																						uc001kjr.2																			0					0						c.(895-897)CCC>CAC		TBC1 domain family, member 12							4.0	5.0	5.0					10																	96163266		1531	3513	5044	SO:0001583	missense	23232					intracellular	Rab GTPase activator activity	g.chr10:96163266C>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.896C>A	10.37:g.96163266C>A	ENSP00000225235:p.Pro299His						p.P299H	NM_015188	NP_056003	O60347	TBC12_HUMAN			1	1081	+		Colorectal(252;0.0429)	299					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	c.896C>A	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836080	0.32421	.	.	ENSG00000108239	ENST00000225235	T	0.08370	3.1	3.88	1.9	0.25705	.	0.384013	0.21233	N	0.077942	T	0.07188	0.0182	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.27806	-1.0063	10	0.49607	T	0.09	-3.1751	6.1398	0.20253	0.1854:0.7096:0.0:0.105	.	299	O60347	TBC12_HUMAN	H	299	ENSP00000225235:P299H	ENSP00000225235:P299H	P	+	2	0	TBC1D12	96153256	0.229000	0.23729	0.002000	0.10522	0.060000	0.15804	3.115000	0.50391	0.379000	0.24794	0.462000	0.41574	CCC		0.692	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2		
ACSM6	142827	broad.mit.edu	37	10	96979715	96979715	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:96979715C>T	ENST00000394005.3	+	8	1196	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	C10orf129_ENST00000430183.1_3'UTR|C10orf129_ENST00000341686.3_Missense_Mutation_p.P396L			Q6P461	ACSM6_HUMAN		396					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCATTGCCACCTTATATTGTC	0.368																																						uc001kke.2																			0					0						c.(1186-1188)CCT>CTT		acyl-coenzyme A synthetase ACSM6, mitochondrial							132.0	133.0	133.0					10																	96979715		2203	4300	6503	SO:0001583	missense	142827				fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr10:96979715C>T																												ENST00000394005.3:c.1187C>T	10.37:g.96979715C>T	ENSP00000377573:p.Pro396Leu					C10orf129_uc009xuu.1_Missense_Mutation_p.P306L	p.P396L	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	9	1312	+		Colorectal(252;0.083)	396					A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	c.1187C>T	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159148	0.57368	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	T;T	0.10382	2.88;2.88	1.08	1.08	0.20341	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.12860	0.0312	L	0.32530	0.975	0.34671	D	0.723698	D	0.55385	0.971	P	0.59424	0.857	T	0.35871	-0.9771	9	0.15066	T	0.55	.	5.4947	0.16795	0.0:1.0:0.0:0.0	.	396	Q6P461	ACSM6_HUMAN	L	422;396;396	ENSP00000340296:P396L;ENSP00000377573:P396L	ENSP00000340296:P396L	P	+	2	0	C10orf129	96969705	0.904000	0.30761	0.395000	0.26283	0.817000	0.46193	0.391000	0.20784	0.871000	0.35750	0.460000	0.39030	CCT		0.368	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2		
DMBT1	1755	broad.mit.edu	37	10	124351971	124351971	+	Missense_Mutation	SNP	G	G	A	rs199833346		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:124351971G>A	ENST00000338354.3	+	20	2466	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.R787Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R777Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R777Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	787	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCGGTTTGGCCAG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17838	0.0		0.001	False		,,,				2504	0.0				Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				central_nervous_system(7)	7						c.(2359-2361)CGG>CAG		deleted in malignant brain tumors 1 isoform b		G	,GLN/ARG,GLN/ARG	0,3976		0,0,1988	175.0	138.0	150.0		,2360,2330	-3.3	0.0	10		150	2,8224		0,2,4111	no	intron,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,43,43	0,2,6099	AA,AG,GG		0.0243,0.0,0.0164	,probably-damaging,probably-damaging	,787/2414,777/2404	124351971	2,12200	1988	4113	6101	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124351971G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2360G>A	10.37:g.124351971G>A	ENSP00000342210:p.Arg787Gln					DMBT1_uc001lgl.1_Missense_Mutation_p.R777Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R787Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.R400Q	p.R787Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			20	2466	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	787			SRCR 6.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.2360G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.842	0.339525	0.11069	0.0	2.43E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	3.86	-3.27	0.05048	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.16557	0.0398	N	0.12502	0.225	0.09310	N	1	P;B;B;B	0.37276	0.589;0.04;0.04;0.049	B;B;B;B	0.25987	0.065;0.006;0.006;0.01	T	0.14448	-1.0472	9	0.27082	T	0.32	.	6.8244	0.23874	0.6813:0.0:0.1778:0.1409	.	548;787;777;787	Q9UGM3-4;Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	Q	787;787;787;787;787;787;777;787;777	ENSP00000342210:R787Q;ENSP00000343175:R777Q;ENSP00000357905:R787Q;ENSP00000357951:R777Q	ENSP00000342210:R787Q	R	+	2	0	DMBT1	124341961	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.763000	0.04740	-0.732000	0.04856	-0.259000	0.10710	CGG		0.622	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
HMX3	340784	broad.mit.edu	37	10	124896723	124896723	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:124896723G>C	ENST00000357878.5	+	2	639	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	184					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CGACTCCGAGGAAAGCAAAAA	0.677																																						uc010quc.1																			0					0						c.(550-552)GAA>CAA		H6 family homeobox 3							12.0	14.0	13.0					10																	124896723		1886	4108	5994	SO:0001583	missense	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124896723G>C		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.550G>C	10.37:g.124896723G>C	ENSP00000350549:p.Glu184Gln						p.E184Q	NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	2	550	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	184					A8MU06	Missense_Mutation	SNP	ENST00000357878.5	37	c.550G>C	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842077	0.91197	.	.	ENSG00000188620	ENST00000357878	D	0.91295	-2.82	4.52	4.52	0.55395	.	0.109585	0.64402	D	0.000010	D	0.85991	0.5826	L	0.29908	0.895	0.80722	D	1	P	0.45044	0.849	B	0.42163	0.378	D	0.85247	0.1042	10	0.28530	T	0.3	.	17.0209	0.86433	0.0:0.0:1.0:0.0	.	184	A6NHT5	HMX3_HUMAN	Q	184	ENSP00000350549:E184Q	ENSP00000350549:E184Q	E	+	1	0	HMX3	124886713	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.611000	0.82962	2.346000	0.79739	0.455000	0.32223	GAA		0.677	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716	
PAOX	196743	broad.mit.edu	37	10	135197588	135197588	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:135197588C>A	ENST00000278060.5	+	4	1076	c.993C>A	c.(991-993)ttC>ttA	p.F331L	PAOX_ENST00000357296.3_Missense_Mutation_p.F331L|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	469					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGGAGCCCTTCTGGGAGCCAG	0.587																																						uc001lmv.2																			0					0						c.(991-993)TTC>TTA		polyamine oxidase isoform 1							91.0	89.0	90.0					10																	135197588		2203	4300	6503	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135197588C>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.993C>A	10.37:g.135197588C>A	ENSP00000278060:p.Phe331Leu					PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Missense_Mutation_p.F331L|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_Intron|PAOX_uc001lnc.2_Intron	p.F331L	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	4	1073	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	469					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	c.993C>A	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.951409	0.73787	.	.	ENSG00000148832	ENST00000278060;ENST00000357296	D;D	0.95001	-3.58;-3.58	5.19	4.29	0.51040	.	0.098936	0.64402	D	0.000001	D	0.97383	0.9144	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.928	D	0.97095	0.9793	10	0.72032	D	0.01	-34.6116	7.6778	0.28497	0.0:0.8153:0.0:0.1847	.	331;331	Q6QHF9-4;Q6QHF9-2	.;.	L	331	ENSP00000278060:F331L;ENSP00000349847:F331L	ENSP00000278060:F331L	F	+	3	2	PAOX	135047578	0.999000	0.42202	1.000000	0.80357	0.958000	0.62258	0.663000	0.25053	1.414000	0.47017	0.558000	0.71614	TTC		0.587	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911	
PCF11	51585	broad.mit.edu	37	11	82878503	82878505	+	In_Frame_Del	DEL	TTG	TTG	-	rs373504788		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:82878503_82878505delTTG	ENST00000298281.4	+	7	2500_2502	c.2048_2050delTTG	c.(2047-2052)cttgtt>ctt	p.V686del		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	686					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATGACTTCCTTGTTGTTGTGCA	0.33																																						uc001ozx.3																			0				ovary(1)	1						c.(2047-2052)CTTGTT>CTT		pre-mRNA cleavage complex II protein Pcf11																																				SO:0001651	inframe_deletion	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82878503_82878505delTTG	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2048_2050delTTG	11.37:g.82878509_82878511delTTG	ENSP00000298281:p.Val686del					PCF11_uc010rsu.1_In_Frame_Del_p.V686del	p.V686del	NM_015885	NP_056969	O94913	PCF11_HUMAN			7	2393_2395	+			686					A6H8W7|O43671|Q6P0X8	In_Frame_Del	DEL	ENST00000298281.4	37	c.2048_2050delTTG	CCDS44689.1																																																																																				0.330	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	
TRIM49	57093	broad.mit.edu	37	11	89531467	89531467	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:89531467A>T	ENST00000329758.1	-	8	1518	c.1190T>A	c.(1189-1191)cTt>cAt	p.L397H	TRIM49_ENST00000532501.2_Missense_Mutation_p.L320H	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	397	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTGCAGCATAAGTGGGGAGGT	0.428																																						uc001pdb.2																			0					0						c.(1189-1191)CTT>CAT		ring finger protein 18							49.0	54.0	52.0					11																	89531467		2111	4284	6395	SO:0001583	missense	57093					intracellular	zinc ion binding	g.chr11:89531467A>T	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1190T>A	11.37:g.89531467A>T	ENSP00000327604:p.Leu397His						p.L397H	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			8	1519	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	397			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	c.1190T>A	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631242	0.28978	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.70749	-0.51	1.21	1.21	0.21127	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.78947	0.4364	M	0.75777	2.31	0.09310	N	1	D	0.69078	0.997	D	0.70935	0.971	T	0.63915	-0.6529	8	.	.	.	.	4.6365	0.12527	1.0:0.0:0.0:0.0	.	397	P0CI25	TRI49_HUMAN	H	397;320	ENSP00000327604:L397H	.	L	-	2	0	TRIM49	89171115	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.430000	0.21428	0.822000	0.34565	0.352000	0.21897	CTT		0.428	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358	
ANGPTL5	253935	broad.mit.edu	37	11	101762250	101762250	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:101762250C>T	ENST00000334289.3	-	9	1522	c.927G>A	c.(925-927)ggG>ggA	p.G309G		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	309	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CAGGGCGACACCCATCATTAT	0.443																																						uc001pgl.2																			0				ovary(1)	1						c.(925-927)GGG>GGA		angiopoietin-like 5 precursor							157.0	137.0	144.0					11																	101762250		2203	4299	6502	SO:0001819	synonymous_variant	253935				signal transduction	extracellular space	receptor binding	g.chr11:101762250C>T	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.927G>A	11.37:g.101762250C>T							p.G309G	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	9	1523	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	309			Fibrinogen C-terminal.		A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	37	c.927G>A	CCDS8312.1																																																																																				0.443	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	
TSPAN9	10867	broad.mit.edu	37	12	3389625	3389625	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr12:3389625C>T	ENST00000011898.5	+	6	569	c.408C>T	c.(406-408)aaC>aaT	p.N136N	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Silent_p.N136N|TSPAN9_ENST00000407263.1_Silent_p.N136N	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	136						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GGCTGAAGAACGCCTGGAACA	0.657																																						uc001qlp.2																			0				ovary(1)	1						c.(406-408)AAC>AAT		tetraspanin 9							122.0	86.0	98.0					12																	3389625		2203	4300	6503	SO:0001819	synonymous_variant	10867					integral to plasma membrane|membrane fraction		g.chr12:3389625C>T	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.408C>T	12.37:g.3389625C>T							p.N136N	NM_006675	NP_006666	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		6	555	+			136			Extracellular (Potential).		D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	c.408C>T	CCDS8520.1																																																																																				0.657	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675	
PABPC3	5042	broad.mit.edu	37	13	25671151	25671151	+	Missense_Mutation	SNP	G	G	A	rs368285293		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:25671151G>A	ENST00000281589.3	+	1	852	c.815G>A	c.(814-816)cGg>cAg	p.R272Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	272					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.R272Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGTGGAACGGCAGACGGAA	0.398																																						uc001upy.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|skin(1)	4						c.(814-816)CGG>CAG		poly(A) binding protein, cytoplasmic 3							157.0	147.0	150.0					13																	25671151		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671151G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.815G>A	13.37:g.25671151G>A	ENSP00000281589:p.Arg272Gln						p.R272Q	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	876	+		Lung SC(185;0.0225)|Breast(139;0.0602)	272					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.815G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676067	0.67928	.	.	ENSG00000151846	ENST00000281589	T	0.06371	3.31	0.875	0.875	0.19130	.	0.000000	0.43416	U	0.000579	T	0.32912	0.0845	H	0.98295	4.195	0.46416	D	0.999035	D	0.89917	1.0	D	0.67548	0.952	T	0.38329	-0.9666	10	0.87932	D	0	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	272	Q9H361	PABP3_HUMAN	Q	272	ENSP00000281589:R272Q	ENSP00000281589:R272Q	R	+	2	0	PABPC3	24569151	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	6.590000	0.74085	0.759000	0.33084	0.313000	0.20887	CGG		0.398	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
UGGT2	55757	broad.mit.edu	37	13	96530054	96530054	+	Silent	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:96530054T>C	ENST00000376747.3	-	28	3355	c.3285A>G	c.(3283-3285)caA>caG	p.Q1095Q		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1095					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TATCAAAGCATTGTCCTTCCA	0.403																																						uc001vmt.2																			0				ovary(2)|central_nervous_system(1)	3						c.(3283-3285)CAA>CAG		UDP-glucose ceramide glucosyltransferase-like 2							164.0	157.0	160.0					13																	96530054		2203	4300	6503	SO:0001819	synonymous_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96530054T>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3285A>G	13.37:g.96530054T>C						UGGT2_uc001vmu.1_Silent_p.Q182Q	p.Q1095Q	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			28	3455	-			1095					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	c.3285A>G	CCDS9480.1																																																																																				0.403	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
ADPRHL1	113622	broad.mit.edu	37	13	114107590	114107590	+	Missense_Mutation	SNP	C	C	T	rs149499588	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:114107590C>T	ENST00000375418.3	-	1	249	c.163G>A	c.(163-165)Gtg>Atg	p.V55M		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	55					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TTGTCACTCACGGGCCATTCT	0.632																																						uc001vtq.1																			0					0						c.(163-165)GTG>ATG		ADP-ribosylhydrolase like 1 isoform 1		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	146.0	124.0	131.0		163	5.6	1.0	13	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADPRHL1	NM_138430.3	21	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	55/355	114107590	3,13003	2203	4300	6503	SO:0001583	missense	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114107590C>T	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.163G>A	13.37:g.114107590C>T	ENSP00000364567:p.Val55Met						p.V55M	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		1	250	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	55					Q5JUG2|Q96GD1	Missense_Mutation	SNP	ENST00000375418.3	37	c.163G>A	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139487	0.77775	2.27E-4	2.33E-4	ENSG00000153531	ENST00000375418	T	0.33654	1.4	5.6	5.6	0.85130	.	0.073886	0.56097	D	0.000031	T	0.58949	0.2158	M	0.71036	2.16	0.43994	D	0.996698	D	0.69078	0.997	P	0.61003	0.882	T	0.60964	-0.7158	10	0.66056	D	0.02	-46.111	19.5989	0.95551	0.0:1.0:0.0:0.0	.	55	Q8NDY3	ARHL1_HUMAN	M	55	ENSP00000364567:V55M	ENSP00000364567:V55M	V	-	1	0	ADPRHL1	113155591	1.000000	0.71417	0.981000	0.43875	0.477000	0.33069	4.394000	0.59671	2.639000	0.89480	0.561000	0.74099	GTG		0.632	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430	
PEX11A	8800	broad.mit.edu	37	15	90226620	90226620	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr15:90226620C>T	ENST00000300056.3	-	3	881	c.732G>A	c.(730-732)ctG>ctA	p.L244L	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Silent_p.L213L	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	244					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AACGGGTCTTCAGCTTCATCT	0.453																																						uc002boi.2																			0					0						c.(730-732)CTG>CTA		peroxisomal biogenesis factor 11 alpha							203.0	209.0	207.0					15																	90226620		2200	4299	6499	SO:0001819	synonymous_variant	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90226620C>T	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.732G>A	15.37:g.90226620C>T						PEX11A_uc010upy.1_RNA	p.L244L	NM_003847	NP_003838	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	827	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		244	KLK->SLS: No effect on peroxisomal location.		Cytoplasmic (Potential).		B4DV88	Silent	SNP	ENST00000300056.3	37	c.732G>A	CCDS10354.1																																																																																				0.453	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847	
TIGD7	91151	broad.mit.edu	37	16	3349388	3349400	+	Frame_Shift_Del	DEL	TTCAGGTTCCTTT	TTCAGGTTCCTTT	-			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:3349388_3349400delTTCAGGTTCCTTT	ENST00000396862.1	-	2	3043_3055	c.1215_1227delAAAGGAACCTGAA	c.(1213-1227)aaaaaggaacctgaafs	p.KKEPE405fs	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Frame_Shift_Del_p.KKEPE405fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	405						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GAAAATCATATTCAGGTTCCTTTTTGTAAAGAA	0.329																																						uc002cus.2																			0					0						c.(1213-1227)AAAAAGGAACCTGAAfs		tigger transposable element derived 7																																				SO:0001589	frameshift_variant	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3349388_3349400delTTCAGGTTCCTTT	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1215_1227delAAAGGAACCTGAA	16.37:g.3349388_3349400delTTCAGGTTCCTTT	ENSP00000380071:p.Lys405fs					ZNF263_uc002cur.2_3'UTR	p.K405fs	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN			1	2001_2013	-			405_409					Q9BXZ0	Frame_Shift_Del	DEL	ENST00000396862.1	37	c.1215_1227delAAAGGAACCTGAA	CCDS10500.1																																																																																				0.329	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208	
CDH5	1003	broad.mit.edu	37	16	66429972	66429972	+	Missense_Mutation	SNP	C	C	T	rs376317308		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:66429972C>T	ENST00000341529.3	+	8	1376	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	410	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ATACTCCATCCGCAGGACCAG	0.493																																						uc002eom.3																			0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1228-1230)CGC>TGC		cadherin 5, type 2 preproprotein		C	CYS/ARG	0,4402		0,0,2201	82.0	76.0	78.0		1228	5.0	1.0	16		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH5	NM_001795.3	180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	410/785	66429972	1,13001	2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66429972C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1228C>T	16.37:g.66429972C>T	ENSP00000344115:p.Arg410Cys						p.R410C	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	8	1384	+		Ovarian(137;0.0955)	410			Cadherin 4.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1228C>T	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906878	0.72868	0.0	1.16E-4	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.52057	0.68	4.96	4.96	0.65561	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69788	0.3150	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.74839	-0.3528	9	0.87932	D	0	.	15.0665	0.71999	0.0:1.0:0.0:0.0	.	410	P33151	CADH5_HUMAN	C	410;151	ENSP00000344115:R410C	ENSP00000344115:R410C	R	+	1	0	CDH5	64987473	0.994000	0.37717	1.000000	0.80357	0.980000	0.70556	1.815000	0.38981	2.590000	0.87494	0.561000	0.74099	CGC		0.493	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	
CDH15	1013	broad.mit.edu	37	16	89251737	89251737	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:89251737G>A	ENST00000289746.2	+	5	724	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGCTGGACCGCGAGGTGAGG	0.706																																						uc002fmt.2																			0				skin(1)	1						c.(658-660)CGC>CAC		cadherin 15 preproprotein							37.0	31.0	33.0					16																	89251737		2191	4296	6487	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89251737G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.659G>A	16.37:g.89251737G>A	ENSP00000289746:p.Arg220His					CDH15_uc010cij.1_Missense_Mutation_p.R220H	p.R220H	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	5	736	+			220			Cadherin 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.659G>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050145	0.75846	.	.	ENSG00000129910	ENST00000289746	T	0.60040	0.22	4.72	4.72	0.59763	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000136	T	0.77370	0.4120	M	0.80746	2.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81636	-0.0843	10	0.87932	D	0	.	16.4536	0.84003	0.0:0.0:1.0:0.0	.	220	P55291	CAD15_HUMAN	H	220	ENSP00000289746:R220H	ENSP00000289746:R220H	R	+	2	0	CDH15	87779238	1.000000	0.71417	0.937000	0.37676	0.180000	0.23129	8.972000	0.93424	2.164000	0.68074	0.462000	0.41574	CGC		0.706	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933	
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:7578534C>A	ENST00000269305.4	-	5	585	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; 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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)	GGCAAAACATCTTGTTGAGGG	0.562		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		77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(394-396)AAG>AAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	48.0	48.0					17																	7578534		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578534C>A	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.396G>T	17.37:g.7578534C>A	ENSP00000269305:p.Lys132Asn	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.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N	p.K132N	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	590	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.396G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186174	0.78789	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	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	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
PHF12	57649	broad.mit.edu	37	17	27240145	27240145	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:27240145T>C	ENST00000332830.4	-	9	2254	c.1444A>G	c.(1444-1446)Aca>Gca	p.T482A	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Missense_Mutation_p.T482A|PHF12_ENST00000268756.3_Missense_Mutation_p.T482A	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGTCAGCTGTTTGCAGGGAG	0.542																																						uc002hdg.1																			0				ovary(1)	1						c.(1444-1446)ACA>GCA		PHD finger protein 12 isoform 1							180.0	152.0	161.0					17																	27240145		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27240145T>C	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1444A>G	17.37:g.27240145T>C	ENSP00000329933:p.Thr482Ala					PHF12_uc010wbb.1_Missense_Mutation_p.T464A|PHF12_uc002hdi.1_Missense_Mutation_p.T478A|PHF12_uc002hdj.1_Missense_Mutation_p.T482A|PHF12_uc010crw.1_Missense_Mutation_p.T185A|PHF12_uc002hdh.1_Missense_Mutation_p.T265A	p.T482A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		9	1974	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		482			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.1444A>G	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	8.525	0.869758	0.17322	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94000	-3.33;-3.29;-3.29	5.55	3.36	0.38483	.	0.399934	0.28072	N	0.016703	T	0.78266	0.4256	N	0.01874	-0.695	0.33773	D	0.623249	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.75274	-0.3375	10	0.13470	T	0.59	-14.6431	7.8404	0.29395	0.0:0.1751:0.0:0.8249	.	464;482;482;482;482	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	A	482	ENSP00000329933:T482A;ENSP00000368157:T482A;ENSP00000268756:T482A	ENSP00000268756:T482A	T	-	1	0	PHF12	24264271	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.099000	0.41767	2.113000	0.64589	0.460000	0.39030	ACA		0.542	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
KRTAP2-4	85294	broad.mit.edu	37	17	39221759	39221773	+	In_Frame_Del	DEL	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	-	rs368479035|rs200935003|rs200113657|rs532535358|rs349782	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	ENST00000394015.2	-	1	358_372	c.325_339delTGCCGGCCCCCCTGC	c.(325-339)tgccggcccccctgcdel	p.CRPPC109del		NM_033184.3	NP_149440.1	Q9BYR9	KRA24_HUMAN	keratin associated protein 2-4	109	10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].					keratin filament (GO:0045095)				skin(1)	1		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	STAD - Stomach adenocarcinoma(17;0.000371)			TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC	0.66														90	0.0179712	0.0038	0.0202	5008	,	,		17196	0.0308		0.0288	False		,,,				2504	0.0112					uc002hvy.2																			0					0						c.(325-339)TGCCGGCCCCCCTGCdel		keratin associated protein 2-4				32,2788		10,12,1388						4.5	1.0			17	146,5894		14,118,2888	no	coding	KRTAP2-4	NM_033184.3		24,130,4276	A1A1,A1R,RR		2.4172,1.1348,2.009				178,8682				SO:0001651	inframe_deletion	85294					keratin filament		g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	AJ406930		17q21.2	2012-04-19			ENSG00000213417	ENSG00000213417		"""Keratin associated proteins"""	18891	protein-coding gene	gene with protein product						11279113	Standard	NM_033184		Approved	KAP2.4	uc002hvy.3	Q9BYR9	OTTHUMG00000133594	ENST00000394015.2:c.325_339delTGCCGGCCCCCCTGC	17.37:g.39221759_39221773delGCAGGGGGGCCGGCA	ENSP00000377583:p.Cys109_Cys113del						p.CRPPC109del	NM_033184	NP_149440	Q9BYR9	KRA24_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	359_373	-		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	109_113					Q495J2	In_Frame_Del	DEL	ENST00000394015.2	37	c.325_339delTGCCGGCCCCCCTGC	CCDS32648.1																																																																																				0.660	KRTAP2-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257698.1	NM_033184	
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						uc002hvz.2																			1	Substitution - Missense(1)		prostate(1)		0						c.(481-483)CTG>GTG		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	520	-		Breast(137;0.000496)	161			27.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KIF18B	146909	broad.mit.edu	37	17	43005601	43005601	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:43005601C>G	ENST00000593135.1	-	13	2166	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S	KIF18B_ENST00000587309.1_Missense_Mutation_p.C702S|KIF18B_ENST00000438933.2_Missense_Mutation_p.C702S|KIF18B_ENST00000339151.4_Missense_Mutation_p.C693S|KIF18B_ENST00000590129.1_Missense_Mutation_p.C711S	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	702					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGTGGCTGGGCAAACGCGAGG	0.647																																						uc010wji.1																			0				ovary(2)	2						c.(2077-2079)TGC>TCC		kinesin family member 18B							28.0	33.0	31.0					17																	43005601		2018	4157	6175	SO:0001583	missense	146909							g.chr17:43005601C>G		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2069G>C	17.37:g.43005601C>G	ENSP00000465992:p.Cys690Ser					KIF18B_uc002iht.2_Missense_Mutation_p.C702S|KIF18B_uc010wjh.1_Missense_Mutation_p.C690S	p.C693S	NM_001080443	NP_001073912					13	2179	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.2078G>C	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927707	0.52759	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.75154	-0.88;-0.91	4.39	4.39	0.52855	.	.	.	.	.	D	0.83454	0.5258	M	0.72118	2.19	0.40786	D	0.983218	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.996	T	0.80487	-0.1361	9	0.11794	T	0.64	.	16.7443	0.85468	0.0:1.0:0.0:0.0	.	702;699;711	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	S	702;693;702	ENSP00000412798:C702S;ENSP00000341466:C693S	ENSP00000341466:C693S	C	-	2	0	KIF18B	40361127	1.000000	0.71417	0.998000	0.56505	0.314000	0.28054	3.206000	0.51098	2.275000	0.75901	0.561000	0.74099	TGC		0.647	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443	
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																						uc002iuu.2																			0				ovary(1)	1						c.(586-588)AAGfs		coilin							141.0	132.0	135.0					17																	55028016		2203	4300	6503	SO:0001589	frameshift_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028016delT	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs						p.K196fs	NM_004645	NP_004636	P38432	COIL_HUMAN			2	618	-	Breast(9;6.15e-08)		196			Lys-rich (basic).		B2R931	Frame_Shift_Del	DEL	ENST00000240316.4	37	c.587delA	CCDS11592.1																																																																																				0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1		
EPB41L3	23136	broad.mit.edu	37	18	5415838	5415838	+	Silent	SNP	C	C	T	rs549355143		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr18:5415838C>T	ENST00000341928.2	-	13	2386	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Silent_p.P682P	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	682	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AACTGTCACTCGGGTCATTGT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19746	0.0		0.0	False		,,,				2504	0.001					uc002kmt.1																			0				ovary(5)	5						c.(2044-2046)CCG>CCA		erythrocyte membrane protein band 4.1-like 3							77.0	78.0	77.0					18																	5415838		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5415838C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2046G>A	18.37:g.5415838C>T						EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	p.P682P	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			13	2132	-			682			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.2046G>A	CCDS11838.1																																																																																				0.582	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
MTCL1	23255	broad.mit.edu	37	18	8786006	8786020	+	In_Frame_Del	DEL	CGAGCCGCGCGGGAG	CGAGCCGCGCGGGAG	-	rs373316781|rs201426677|rs201927020|rs200305032|rs569097168|rs536482836	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr18:8786006_8786020delCGAGCCGCGCGGGAG	ENST00000306329.11	+	6	2884_2898	c.2884_2898delCGAGCCGCGCGGGAG	c.(2884-2898)cgagccgcgcgggagdel	p.RAARE962del	SOGA2_ENST00000517570.1_In_Frame_Del_p.RAARE602del|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_In_Frame_Del_p.RAARE602del|SOGA2_ENST00000359865.3_In_Frame_Del_p.RAARE602del																							CCTGCGCCTCCGAGCCGCGCGGGAGCTGCACCGCC	0.707														6	0.00119808	0.0	0.0	5008	,	,		9708	0.0		0.005	False		,,,				2504	0.001					uc002knr.2																			0					0						c.(1804-1818)CGAGCCGCGCGGGAGdel		hypothetical protein LOC23255				10,4218		0,10,2104						-4.0	0.0			15	63,8101		1,61,4020	no	coding	CCDC165	NM_015210.3		1,71,6124	A1A1,A1R,RR		0.7717,0.2365,0.5891				73,12319				SO:0001651	inframe_deletion	23255							g.chr18:8786006_8786020delCGAGCCGCGCGGGAG																												ENST00000306329.11:c.2884_2898delCGAGCCGCGCGGGAG	18.37:g.8786006_8786020delCGAGCCGCGCGGGAG	ENSP00000305027:p.Arg962_Glu966del					KIAA0802_uc002knq.2_In_Frame_Del_p.RAARE602del|KIAA0802_uc010dkw.1_In_Frame_Del_p.RAARE440del	p.RAARE602del	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			7	1946_1960	+			953_957						In_Frame_Del	DEL	ENST00000306329.11	37	c.1804_1818delCGAGCCGCGCGGGAG																																																																																					0.707	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						uc002koi.3																			4	Substitution - Missense(4)		urinary_tract(2)|lung(2)	ovary(1)|pancreas(1)	2						c.(418-420)AAA>GAA		thioredoxin domain-containing 2 isoform 2							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.K73E	p.K140E	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	867	+			140			2.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1		
NWD1	284434	broad.mit.edu	37	19	16860196	16860196	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:16860196G>A	ENST00000552788.1	+	4	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NWD1_ENST00000523826.1_Missense_Mutation_p.R42H|NWD1_ENST00000549814.1_Missense_Mutation_p.R248H|NWD1_ENST00000339803.6_Missense_Mutation_p.R113H|NWD1_ENST00000379808.3_Missense_Mutation_p.R248H|NWD1_ENST00000524140.2_Missense_Mutation_p.R248H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	248							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGTGGAGCCGCGACTTGGTG	0.597																																						uc002neu.3																			0				skin(3)|ovary(2)|pancreas(2)	7						c.(742-744)CGC>CAC		RecName: Full=NACHT and WD repeat domain-containing protein 1;							49.0	47.0	48.0					19																	16860196		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860196G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.743G>A	19.37:g.16860196G>A	ENSP00000447224:p.Arg248His					NWD1_uc002net.3_Missense_Mutation_p.R113H|NWD1_uc002nev.3_Missense_Mutation_p.R42H	p.R248H			Q149M9	NWD1_HUMAN			6	1165	+			248					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.743G>A		.	.	.	.	.	.	.	.	.	.	g	14.11	2.438928	0.43326	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58358	0.34;0.4;0.34;0.35;0.38;0.38	4.35	3.04	0.35103	.	0.272175	0.31797	N	0.007057	T	0.46678	0.1405	N	0.24115	0.695	0.33518	D	0.591975	D;D;D	0.76494	0.999;0.997;0.995	P;P;P	0.58873	0.813;0.847;0.707	T	0.54675	-0.8258	10	0.35671	T	0.21	-23.9941	5.3419	0.15988	0.1988:0.0:0.8012:0.0	.	248;248;113	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	113;248;248;248;42;248;113	ENSP00000428579:R248H;ENSP00000447548:R248H;ENSP00000369136:R248H;ENSP00000428955:R42H;ENSP00000447224:R248H;ENSP00000340159:R113H	ENSP00000340159:R113H	R	+	2	0	NWD1	16721196	0.163000	0.22920	0.957000	0.39632	0.092000	0.18411	0.469000	0.22067	2.139000	0.66308	0.637000	0.83480	CGC		0.597	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
MAST3	23031	broad.mit.edu	37	19	18218415	18218415	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:18218415C>T	ENST00000262811.6	+	2	58	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	20							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GAGCCTGCCACGCCGAGGACG	0.572																																						uc002nhz.3																			0				large_intestine(2)|ovary(2)|stomach(1)	5						c.(58-60)CGC>TGC		microtubule associated serine/threonine kinase							105.0	113.0	111.0					19																	18218415		1960	4145	6105	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18218415C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.58C>T	19.37:g.18218415C>T	ENSP00000262811:p.Arg20Cys						p.R20C	NM_015016	NP_055831	O60307	MAST3_HUMAN			2	58	+			20					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.58C>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736057	0.69189	.	.	ENSG00000099308	ENST00000262811	T	0.72394	-0.65	4.29	4.29	0.51040	.	.	.	.	.	T	0.65647	0.2711	L	0.51422	1.61	0.41473	D	0.988114	B	0.09022	0.002	B	0.08055	0.003	T	0.67138	-0.5746	9	0.87932	D	0	-0.0014	13.8648	0.63581	0.0:1.0:0.0:0.0	.	20	O60307	MAST3_HUMAN	C	20	ENSP00000262811:R20C	ENSP00000262811:R20C	R	+	1	0	MAST3	18079415	0.993000	0.37304	0.957000	0.39632	0.969000	0.65631	3.965000	0.56788	2.103000	0.63969	0.561000	0.74099	CGC		0.572	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150	
KMT2B	9757	broad.mit.edu	37	19	36224327	36224327	+	Frame_Shift_Del	DEL	C	C	-	rs187370444		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:36224327delC	ENST00000222270.7	+	28	6877	c.6877delC	c.(6877-6879)cccfs	p.P2294fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Del_p.P2294fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2294					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCAGCACCTCCCCCATACAA	0.682																																						uc010eei.2																			0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(6877-6879)CCCfs		myeloid/lymphoid or mixed-lineage leukemia 4																																				SO:0001589	frameshift_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36224327delC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6877delC	19.37:g.36224327delC	ENSP00000222270:p.Pro2294fs						p.P2293fs	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		29	6877	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		2293					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.6877delC	CCDS46055.1																																																																																				0.682	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
CD33	945	broad.mit.edu	37	19	51742917	51742917	+	Missense_Mutation	SNP	G	G	A	rs148758925		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:51742917G>A	ENST00000262262.4	+	7	1090	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.E230K	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	357					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CACCTCCACCGAATACTCAGA	0.527													g|||	1	0.000199681	0.0	0.0	5008	,	,		19647	0.0		0.001	False		,,,				2504	0.0					uc002pwa.2																			0					0						c.(1069-1071)GAA>AAA		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)	G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	81.0	70.0	74.0		688,1069	-0.6	0.0	19	dbSNP_134	74	15,8585	11.2+/-40.8	0,15,4285	yes	missense,missense	CD33	NM_001082618.1,NM_001772.3	56,56	0,16,6487	AA,AG,GG		0.1744,0.0227,0.123	possibly-damaging,possibly-damaging	230/238,357/365	51742917	16,12990	2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51742917G>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.1069G>A	19.37:g.51742917G>A	ENSP00000262262:p.Glu357Lys					CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E230K|CD33_uc010eou.1_RNA	p.E357K	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	7	1109	+		all_neural(266;0.0199)	357			ITIM motif 2.|Cytoplasmic (Potential).		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.1069G>A	CCDS33084.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.11	1.540907	0.27563	2.27E-4	0.001744	ENSG00000105383	ENST00000262262;ENST00000421133	T;T	0.06528	3.29;3.29	2.13	-0.601	0.11638	.	.	.	.	.	T	0.07638	0.0192	M	0.82823	2.61	0.09310	N	1	B;D	0.53619	0.291;0.961	B;B	0.36989	0.022;0.238	T	0.27365	-1.0076	9	0.87932	D	0	.	2.5317	0.04704	0.2672:0.3002:0.4326:0.0	.	230;357	C9JEN7;P20138	.;CD33_HUMAN	K	357;230	ENSP00000262262:E357K;ENSP00000410126:E230K	ENSP00000262262:E357K	E	+	1	0	CD33	56434729	0.000000	0.05858	0.001000	0.08648	0.154000	0.21943	-0.213000	0.09305	-0.083000	0.12618	0.313000	0.20887	GAA		0.527	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772	
MBOAT7	79143	broad.mit.edu	37	19	54677935	54677935	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:54677935C>G	ENST00000245615.1	-	8	1702	c.1222G>C	c.(1222-1224)Gac>Cac	p.D408H	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000376591.4_5'Flank|TMC4_ENST00000301187.4_5'Flank|MBOAT7_ENST00000338624.6_Missense_Mutation_p.D335H|MBOAT7_ENST00000431666.2_Missense_Mutation_p.D335H	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	408					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACATGTAGTCATAGGCGCGC	0.652																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2																			0					0						c.(1222-1224)GAC>CAC		membrane bound O-acyltransferase domain							141.0	133.0	136.0					19																	54677935		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54677935C>G	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1222G>C	19.37:g.54677935C>G	ENSP00000245615:p.Asp408His					TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.D92H|MBOAT7_uc010yem.1_Missense_Mutation_p.D390H|MBOAT7_uc002qdr.2_Missense_Mutation_p.D408H|MBOAT7_uc002qds.2_Missense_Mutation_p.D335H|MBOAT7_uc010yen.1_Missense_Mutation_p.D335H	p.D408H	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			9	1488	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		408					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.1222G>C	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.819104	0.90873	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.72615	-0.67;-0.67;-0.67	4.88	4.88	0.63580	.	0.194818	0.52532	D	0.000077	T	0.81616	0.4860	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.988;0.983	T	0.82244	-0.0553	10	0.51188	T	0.08	-33.0659	17.2362	0.86999	0.0:1.0:0.0:0.0	.	390;335;408	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	H	335;335;408	ENSP00000410503:D335H;ENSP00000344377:D335H;ENSP00000245615:D408H	ENSP00000245615:D408H	D	-	1	0	MBOAT7	59369747	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.860000	0.75473	2.441000	0.82636	0.550000	0.68814	GAC		0.652	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298	
MYCN	4613	broad.mit.edu	37	2	16082359	16082359	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:16082359C>T	ENST00000281043.3	+	2	470	c.173C>T	c.(172-174)aCg>aTg	p.T58M	MYCNOS_ENST00000439180.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000453400.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	58					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTGCTGCCCACGCCCCCGCTG	0.677			A		neuroblastoma																																	uc002rci.2				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(172-174)ACG>ATG		v-myc myelocytomatosis viral related oncogene,							17.0	20.0	19.0					2																	16082359		2200	4300	6500	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16082359C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.173C>T	2.37:g.16082359C>T	ENSP00000281043:p.Thr58Met					MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.T50M	p.T58M	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		2	473	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		58					Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.173C>T	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370939	0.82573	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.30448	1.53	2.89	2.89	0.33648	Transcription regulator Myc, N-terminal (1);	0.369160	0.30036	N	0.010568	T	0.59376	0.2189	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69851	-0.5033	10	0.66056	D	0.02	-14.876	14.556	0.68101	0.0:1.0:0.0:0.0	.	58	P04198	MYCN_HUMAN	M	58	ENSP00000281043:T58M	ENSP00000281043:T58M	T	+	2	0	MYCN	15999810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.495000	0.81514	1.567000	0.49668	0.561000	0.74099	ACG		0.677	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378	
SCN9A	6335	broad.mit.edu	37	2	167141183	167141183	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:167141183C>G	ENST00000409435.1	-	11	1753	c.1754G>C	c.(1753-1755)aGg>aCg	p.R585T	SCN9A_ENST00000409672.1_Missense_Mutation_p.R585T|SCN9A_ENST00000303354.6_Missense_Mutation_p.R586T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.R586T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	585					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGTGAGCCCCTTCTGCTCTC	0.502																																						uc010fpl.2																			0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(1753-1755)AGG>ACG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						108.0	113.0	111.0					2																	167141183		2108	4247	6355	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141183C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1754G>C	2.37:g.167141183C>G	ENSP00000386330:p.Arg585Thr					uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R456T|SCN9A_uc002uds.1_Missense_Mutation_p.R456T|SCN9A_uc002udt.1_Missense_Mutation_p.R456T	p.R585T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			12	2095	-			585					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1754G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462096	0.84425	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.96554	-4.0;-4.02;-4.02;-4.02;-4.0;-4.05	5.64	5.64	0.86602	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000001	D	0.98375	0.9460	M	0.91872	3.25	0.50039	D	0.999845	P;D;P	0.65815	0.781;0.995;0.578	P;D;B	0.76071	0.68;0.987;0.296	D	0.98855	1.0760	10	0.87932	D	0	.	14.2623	0.66092	0.0:0.9286:0.0:0.0714	.	585;585;586	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	T	585;586;586;585;450;450	ENSP00000386306:R585T;ENSP00000364536:R586T;ENSP00000304748:R586T;ENSP00000386330:R585T;ENSP00000413212:R450T;ENSP00000393141:R450T	ENSP00000304748:R586T	R	-	2	0	SCN9A	166849429	0.980000	0.34600	1.000000	0.80357	0.988000	0.76386	4.630000	0.61297	2.812000	0.96745	0.557000	0.71058	AGG		0.502	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
COL6A3	1293	broad.mit.edu	37	2	238270475	238270475	+	Splice_Site	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:238270475C>G	ENST00000295550.4	-	15	6516		c.e15-1		COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAATGTTGTCCTACCGAAAGG	0.527																																						uc002vwl.2																			0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.e15-1		alpha 3 type VI collagen isoform 1 precursor							66.0	68.0	68.0					2																	238270475		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238270475C>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6064-1G>C	2.37:g.238270475C>G						COL6A3_uc002vwo.2_Splice_Site_p.D1816_splice|COL6A3_uc010znj.1_Splice_Site_p.D1415_splice	p.D2022_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	15	6349	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)						A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37	c.6064_splice	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512128	0.64522	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237935214	1.000000	0.71417	0.996000	0.52242	0.576000	0.36127	7.346000	0.79347	2.513000	0.84729	0.650000	0.86243	.		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron
SAMHD1	25939	broad.mit.edu	37	20	35547889	35547889	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr20:35547889G>A	ENST00000262878.4	-	7	929	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	SAMHD1_ENST00000373694.5_Missense_Mutation_p.L29F	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	244	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GAATTAATAAGGTGCTCAAAC	0.368																																						uc002xgh.1																			0					0						c.(730-732)CTT>TTT		SAM domain- and HD domain-containing protein 1							90.0	85.0	87.0					20																	35547889		2203	4299	6502	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35547889G>A	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.730C>T	20.37:g.35547889G>A	ENSP00000262878:p.Leu244Phe						p.L244F	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			7	860	-		Myeloproliferative disorder(115;0.00878)	244			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.730C>T	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914400	0.72983	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.96830	-2.96;-4.14	5.82	3.66	0.41972	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	M	0.80183	2.485	0.58432	D	0.999999	D	0.63880	0.993	D	0.70716	0.97	D	0.96141	0.9100	10	0.72032	D	0.01	-13.2663	6.2995	0.21105	0.1805:0.0:0.6782:0.1412	.	244	Q9Y3Z3	SAMH1_HUMAN	F	244;29	ENSP00000262878:L244F;ENSP00000362798:L29F	ENSP00000262878:L244F	L	-	1	0	SAMHD1	34981303	1.000000	0.71417	0.496000	0.27539	0.983000	0.72400	3.019000	0.49635	0.622000	0.30249	0.557000	0.71058	CTT		0.368	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474	
OXSM	54995	broad.mit.edu	37	3	25832620	25832620	+	Missense_Mutation	SNP	A	A	G	rs370766105		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr3:25832620A>G	ENST00000280701.3	+	2	208	c.109A>G	c.(109-111)Ata>Gta	p.I37V	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Missense_Mutation_p.I37V	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	37					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AACTGTGCCAATATCCAGATT	0.428													A|||	1	0.000199681	0.0	0.0014	5008	,	,		23033	0.0		0.0	False		,,,				2504	0.0					uc003cdn.2																			0				ovary(1)|breast(1)	2						c.(109-111)ATA>GTA		3-oxoacyl-ACP synthase, mitochondrial isoform 1		A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	157.0	149.0	151.0		109,109	-3.5	0.0	3		151	0,8600		0,0,4300	no	missense,missense	OXSM	NM_017897.2,NM_001145391.1	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	37/460,37/377	25832620	1,13005	2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25832620A>G	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.109A>G	3.37:g.25832620A>G	ENSP00000280701:p.Ile37Val					NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Missense_Mutation_p.I37V	p.I37V	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			2	216	+			37						Missense_Mutation	SNP	ENST00000280701.3	37	c.109A>G	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.305625	0.00240	2.27E-4	0.0	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	5.14	-3.49	0.04724	.	0.951080	0.08789	N	0.893524	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.29181	-1.0020	9	0.13108	T	0.6	-0.9961	2.4324	0.04475	0.3055:0.2118:0.3692:0.1135	.	37;37	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	V	37	.	ENSP00000280701:I37V	I	+	1	0	OXSM	25807624	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.000000	0.12993	-0.399000	0.07668	0.459000	0.35465	ATA		0.428	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897	
PIK3CA	5290	broad.mit.edu	37	3	178916882	178916882	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr3:178916882G>A	ENST00000263967.3	+	2	426	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	90	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGACGACTTTGTGACCTTCGG	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(268-270)TGT>TAT		phosphoinositide-3-kinase, catalytic, alpha							106.0	101.0	103.0					3																	178916882		1820	4077	5897	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916882G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.269G>A	3.37:g.178916882G>A	ENSP00000263967:p.Cys90Tyr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C90Y	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	426	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		90			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.269G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163066	0.78226	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.75367	-0.93;-0.93	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87276	0.2289	9	.	.	.	-21.1026	19.2635	0.93977	0.0:0.0:1.0:0.0	.	90	P42336	PK3CA_HUMAN	Y	90	ENSP00000263967:C90Y;ENSP00000417479:C90Y	.	C	+	2	0	PIK3CA	180399576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	TGT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
UGT2B10	7365	broad.mit.edu	37	4	69696492	69696492	+	Silent	SNP	G	G	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr4:69696492G>T	ENST00000265403.7	+	6	1509	c.1482G>T	c.(1480-1482)ggG>ggT	p.G494G	UGT2B10_ENST00000458688.2_Silent_p.G410G	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	494					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGTGATTGGGTTCCTGCTGG	0.458																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2																			0				skin(3)|ovary(2)	5						c.(1480-1482)GGG>GGT		UDP glucuronosyltransferase 2B10 isoform 1							171.0	164.0	166.0					4																	69696492		2203	4300	6503	SO:0001819	synonymous_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69696492G>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1482G>T	4.37:g.69696492G>T						UGT2B10_uc011cam.1_Silent_p.G410G	p.G494G	NM_001075	NP_001066	P36537	UDB10_HUMAN			6	1507	+			494			Helical; (Potential).		A8K9M3|B4DPP1|Q14CR8	Silent	SNP	ENST00000265403.7	37	c.1482G>T																																																																																					0.458	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	
FAM13A	10144	broad.mit.edu	37	4	89941642	89941642	+	Silent	SNP	C	C	T	rs147082682	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr4:89941642C>T	ENST00000264344.5	-	3	603	c.396G>A	c.(394-396)gcG>gcA	p.A132A	FAM13A_ENST00000511976.1_5'UTR|FAM13A_ENST00000515600.1_Silent_p.A132A|FAM13A_ENST00000509094.1_Silent_p.A132A|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	132	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GAGGCTGCAACGCTGAGGTGA	0.512																																						uc003hse.1																			0				ovary(1)|liver(1)	2						c.(394-396)GCG>GCA		family with sequence similarity 13, member A1		C		1,4405	2.1+/-5.4	0,1,2202	67.0	63.0	65.0		396	-8.4	0.0	4	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM13A	NM_014883.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		132/1024	89941642	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89941642C>T	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.396G>A	4.37:g.89941642C>T						FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Silent_p.A132A|FAM13A_uc003hsj.2_Silent_p.A132A	p.A132A	NM_014883	NP_055698	O94988	FA13A_HUMAN			3	604	-			132			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.396G>A	CCDS34029.1																																																																																				0.512	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
PTGER4	5734	broad.mit.edu	37	5	40681502	40681502	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr5:40681502C>T	ENST00000302472.3	+	2	1431	c.407C>T	c.(406-408)gCg>gTg	p.A136V	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	136					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	AAGCGATTGGCGGGCCTCACG	0.597											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlz.2																			0				lung(2)	2						c.(406-408)GCG>GTG		prostaglandin E receptor 4, subtype EP4							126.0	126.0	126.0					5																	40681502		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681502C>T	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.407C>T	5.37:g.40681502C>T	ENSP00000302846:p.Ala136Val		OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895		p.A136V	NM_000958	NP_000949	P35408	PE2R4_HUMAN			2	999	+			136			Helical; Name=4; (Potential).		Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.407C>T	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795203	0.90453	.	.	ENSG00000171522	ENST00000302472	T	0.40225	1.04	5.42	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	M	0.70108	2.13	0.80722	D	1	D	0.60575	0.988	P	0.58970	0.849	T	0.66184	-0.5987	10	0.87932	D	0	-26.8039	15.7843	0.78291	0.0:0.8633:0.1367:0.0	.	136	P35408	PE2R4_HUMAN	V	136	ENSP00000302846:A136V	ENSP00000302846:A136V	A	+	2	0	PTGER4	40717259	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	5.999000	0.70665	1.227000	0.43598	0.561000	0.74099	GCG		0.597	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958	
HSP90AB1	3326	broad.mit.edu	37	6	44217321	44217321	+	Splice_Site	SNP	G	G	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr6:44217321G>T	ENST00000371554.1	+	3	568		c.e3+1		HSP90AB1_ENST00000353801.3_Splice_Site|HSP90AB1_ENST00000371646.5_Splice_Site			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1						axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCTCTTCAGGTATTGCAGTT	0.403																																						uc003oxa.1																			0				lung(3)|breast(1)	4						c.e3+1		heat shock 90kDa protein 1, beta							82.0	82.0	82.0					6																	44217321		2203	4300	6503	SO:0001630	splice_region_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217321G>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.354+1G>T	6.37:g.44217321G>T						HSP90AB1_uc011dvr.1_Splice_Site_p.Q118_splice|HSP90AB1_uc003oxb.1_Splice_Site_p.Q118_splice|HSP90AB1_uc011dvs.1_Splice_Site|HSP90AB1_uc003oxc.1_5'Flank	p.Q118_splice	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	438	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)							B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Splice_Site	SNP	ENST00000371554.1	37	c.354_splice	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742751	0.69418	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4677	0.87638	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSP90AB1	44325299	.	.	1.000000	0.80357	0.874000	0.50279	.	.	2.289000	0.77006	0.561000	0.74099	.		0.403	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355	Intron
DPY19L2P1	554236	broad.mit.edu	37	7	35130052	35130052	+	RNA	SNP	C	C	T	rs555354370		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:35130052C>T	ENST00000436258.1	-	0	3317							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TATTTTTGTCCGAGCCCTTTA	0.264																																						uc003teq.1																			0					0						c.(1132-1134)CGG>CAG		RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2;																																						554236							g.chr7:35130052C>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35130052C>T						DPY19L2P1_uc003tep.1_RNA|DPY19L2P1_uc010kwz.1_RNA	p.R378Q							21	2240	-								B4E2E3	Missense_Mutation	SNP	ENST00000436258.1	37	c.1133G>A																																																																																					0.264	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1		
RABGEF1	27342	broad.mit.edu	37	7	66262470	66262470	+	Silent	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:66262470T>C	ENST00000284957.5	+	6	782	c.705T>C	c.(703-705)gaT>gaC	p.D235D	KCTD7_ENST00000510829.2_Silent_p.D235D|RABGEF1_ENST00000450873.2_Silent_p.D235D|RABGEF1_ENST00000439720.2_Silent_p.D248D|KCTD7_ENST00000451741.2_Silent_p.D235D|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Silent_p.D249D|KCTD7_ENST00000380828.2_Silent_p.D275D			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	452	Interaction with ubiquitinated proteins.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAAGAAAGATCTTGCCATTC	0.358																																						uc011kee.1																			0				ovary(1)	1						c.(745-747)GAT>GAC		RAB guanine nucleotide exchange factor (GEF) 1							68.0	65.0	66.0					7																	66262470		2203	4300	6503	SO:0001819	synonymous_variant	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66262470T>C	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.705T>C	7.37:g.66262470T>C						RABGEF1_uc003tvf.2_Silent_p.D108D|RABGEF1_uc003tvg.2_Silent_p.D43D|RABGEF1_uc010lag.2_Silent_p.D235D|RABGEF1_uc003tvh.2_Silent_p.D235D|RABGEF1_uc003tvi.2_Silent_p.D69D	p.D249D	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			6	911	+			452			VPS9.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Silent	SNP	ENST00000284957.5	37	c.747T>C	CCDS5535.1																																																																																				0.358	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	
TRIM50	135892	broad.mit.edu	37	7	72734159	72734159	+	Missense_Mutation	SNP	C	C	T	rs184647228		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:72734159C>T	ENST00000333149.2	-	3	682	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000453152.1_Missense_Mutation_p.R161Q	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	161						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GATTCGGGTCCGGTTGTTCAC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18900	0.001		0.0	False		,,,				2504	0.0					uc010lbd.1																			0				skin(1)	1						c.(481-483)CGG>CAG		tripartite motif protein 50A							389.0	332.0	351.0					7																	72734159		2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72734159C>T	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.482G>A	7.37:g.72734159C>T	ENSP00000327994:p.Arg161Gln					FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.R161Q|TRIM50_uc003txz.1_Missense_Mutation_p.R161Q	p.R161Q	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN			3	607	-			161			Potential.		Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.482G>A	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643594	0.29246	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.64618	-0.11;-0.11	4.14	4.14	0.48551	.	0.326831	0.24291	N	0.039808	T	0.41604	0.1166	N	0.24115	0.695	0.25621	N	0.986398	P;P	0.51791	0.948;0.913	B;B	0.42112	0.376;0.208	T	0.23691	-1.0181	10	0.13470	T	0.59	.	6.9189	0.24376	0.0:0.7986:0.0:0.2014	.	161;161	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	Q	161	ENSP00000327994:R161Q;ENSP00000413875:R161Q	ENSP00000327994:R161Q	R	-	2	0	TRIM50	72372095	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	2.413000	0.44618	2.042000	0.60477	0.485000	0.47835	CGG		0.562	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125	
BAIAP2L1	55971	broad.mit.edu	37	7	97922864	97922864	+	Missense_Mutation	SNP	G	G	A	rs140138864		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:97922864G>A	ENST00000005260.8	-	14	1720	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	502	Binds F-actin.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GCGATCATTCGTCACAGTCGG	0.547																																						uc003upj.2																			0				ovary(1)	1						c.(1504-1506)ACG>ATG		BAI1-associated protein 2-like 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	131.0	128.0	129.0		1505	6.1	1.0	7	dbSNP_134	129	0,8600		0,0,4300	yes	missense	BAIAP2L1	NM_018842.4	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	502/512	97922864	1,13005	2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97922864G>A	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1505C>T	7.37:g.97922864G>A	ENSP00000005260:p.Thr502Met						p.T502M	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		14	1768	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		502	Missing: Loss ability to induce the formation of actin clusters; induce the formation of long filopodia.		Binds F-actin.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.1505C>T	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639934	0.67244	2.27E-4	0.0	ENSG00000006453	ENST00000005260	T	0.69806	-0.43	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.82857	0.5128	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83291	-0.0033	10	0.87932	D	0	-21.7749	19.609	0.95594	0.0:0.0:1.0:0.0	.	502	Q9UHR4	BI2L1_HUMAN	M	502	ENSP00000005260:T502M	ENSP00000005260:T502M	T	-	2	0	AC093799.1	97760800	1.000000	0.71417	0.985000	0.45067	0.006000	0.05464	8.863000	0.92288	2.882000	0.98803	0.655000	0.94253	ACG		0.547	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
RELN	5649	broad.mit.edu	37	7	103389896	103389896	+	Silent	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:103389896T>C	ENST00000428762.1	-	6	792	c.633A>G	c.(631-633)caA>caG	p.Q211Q	RELN_ENST00000424685.2_Silent_p.Q211Q|RELN_ENST00000343529.5_Silent_p.Q211Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	211					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTAATTGCAGTTGGTGGTAGG	0.353																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(631-633)CAA>CAG		reelin isoform a							193.0	186.0	188.0					7																	103389896		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103389896T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.633A>G	7.37:g.103389896T>C						RELN_uc010liz.2_Silent_p.Q211Q	p.Q211Q	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	6	793	-			211					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.633A>G	CCDS47680.1																																																																																				0.353	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
PARP12	64761	broad.mit.edu	37	7	139724367	139724367	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:139724367C>T	ENST00000263549.3	-	12	2972	c.2099G>A	c.(2098-2100)cGa>cAa	p.R700Q		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	700						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CGCTCACTGTCGGCTGCTGAA	0.522																																						uc003vvl.1																			0				ovary(3)	3						c.(2098-2100)CGA>CAA		poly ADP-ribose polymerase 12							77.0	66.0	70.0					7																	139724367		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139724367C>T	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.2099G>A	7.37:g.139724367C>T	ENSP00000263549:p.Arg700Gln					PARP12_uc003vvk.1_Missense_Mutation_p.R486Q|PARP12_uc010lnf.1_RNA	p.R700Q	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			12	2973	-	Melanoma(164;0.0142)		700					Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.2099G>A	CCDS5857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.93|18.93	3.727720|3.727720	0.69074|0.69074	.|.	.|.	ENSG00000059378|ENSG00000059378	ENST00000541746|ENST00000263549	.|T	.|0.08008	.|3.14	4.67|4.67	3.78|3.78	0.43462|0.43462	.|.	.|0.147317	.|0.29737	.|N	.|0.011330	T|T	0.09247|0.09247	0.0228|0.0228	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B	.|0.26081	.|0.141	.|B	.|0.17098	.|0.017	T|T	0.17623|0.17623	-1.0363|-1.0363	6|10	0.62326|0.72032	D|D	0.03|0.01	.|.	11.0652|11.0652	0.47972|0.47972	0.0:0.8119:0.1881:0.0|0.0:0.8119:0.1881:0.0	.|.	.|700	.|Q9H0J9	.|PAR12_HUMAN	N|Q	84|700	.|ENSP00000263549:R700Q	ENSP00000445106:D84N|ENSP00000263549:R700Q	D|R	-|-	1|2	0|0	PARP12|PARP12	139370836|139370836	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.091000|0.091000	0.18340|0.18340	0.499000|0.499000	0.22546|0.22546	1.066000|1.066000	0.40716|0.40716	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.522	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750	
OR2F2	135948	broad.mit.edu	37	7	143632582	143632582	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:143632582T>C	ENST00000408955.2	+	1	324	c.257T>C	c.(256-258)cTt>cCt	p.L86P		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GCACATTTTCTTGCAGAACAT	0.522																																						uc011ktv.1																			0				ovary(3)|skin(1)	4						c.(256-258)CTT>CCT		olfactory receptor, family 2, subfamily F,							176.0	172.0	173.0					7																	143632582		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632582T>C		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.257T>C	7.37:g.143632582T>C	ENSP00000386222:p.Leu86Pro						p.L86P	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	257	+	Melanoma(164;0.0903)		86			Extracellular (Potential).		A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.257T>C	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.350851	0.24512	.	.	ENSG00000221910	ENST00000408955	T	0.01446	4.88	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000335	T	0.12433	0.0302	M	0.92077	3.27	0.45762	D	0.998658	D	0.89917	1.0	D	0.91635	0.999	T	0.00763	-1.1576	10	0.46703	T	0.11	-23.4328	10.5724	0.45209	0.0:0.0:0.0:1.0	.	86	O95006	OR2F2_HUMAN	P	86	ENSP00000386222:L86P	ENSP00000386222:L86P	L	+	2	0	OR2F2	143263515	0.617000	0.27043	0.833000	0.33012	0.057000	0.15508	4.533000	0.60615	1.665000	0.50811	0.402000	0.26972	CTT		0.522	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1		
SLC4A2	6522	broad.mit.edu	37	7	150759094	150759094	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:150759094G>A	ENST00000485713.1	+	2	1060	c.20G>A	c.(19-21)cGc>cAc	p.R7H	SLC4A2_ENST00000392826.2_5'Flank|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R7H|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R7H|SLC4A2_ENST00000461735.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	7	Pro-rich.			R -> L (in Ref. 1; CAA44067). {ECO:0000305}.	anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.R7L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCCTCGGCGCCCCGCCAAG	0.667																																						uc003wit.3																			1	Substitution - Missense(1)		prostate(1)		0						c.(19-21)CGC>CAC		solute carrier family 4, anion exchanger, member							25.0	27.0	26.0					7																	150759094		2203	4298	6501	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150759094G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.20G>A	7.37:g.150759094G>A	ENSP00000419412:p.Arg7His					SLC4A2_uc011kve.1_5'Flank|SLC4A2_uc003wiu.3_5'Flank	p.R7H	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	276	+			7	R -> L (in Ref. 1; CAA44067).		Cytoplasmic (Potential).|Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.20G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112432	0.56398	.	.	ENSG00000164889	ENST00000483786;ENST00000485713;ENST00000413384;ENST00000490898;ENST00000482950;ENST00000463414;ENST00000310317;ENST00000488420	T;T;T;T;T;T;T;T	0.80033	0.52;-1.13;-1.13;1.08;0.55;0.53;-1.33;-0.04	4.69	4.69	0.59074	.	2.103280	0.02303	N	0.071413	T	0.70500	0.3231	L	0.36672	1.1	0.22366	N	0.999168	P	0.48640	0.913	B	0.31337	0.128	T	0.60611	-0.7229	10	0.13108	T	0.6	.	13.0013	0.58676	0.0:0.0:1.0:0.0	.	7	P04920	B3A2_HUMAN	H	7	ENSP00000417808:R7H;ENSP00000419412:R7H;ENSP00000405600:R7H;ENSP00000418114:R7H;ENSP00000419379:R7H;ENSP00000418584:R7H;ENSP00000311402:R7H;ENSP00000417221:R7H	ENSP00000311402:R7H	R	+	2	0	SLC4A2	150390027	0.995000	0.38212	1.000000	0.80357	0.138000	0.21146	1.751000	0.38339	2.424000	0.82194	0.561000	0.74099	CGC		0.667	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	
TRIM14	9830	broad.mit.edu	37	9	100857227	100857227	+	Missense_Mutation	SNP	C	C	T	rs149392923	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr9:100857227C>T	ENST00000341469.2	-	4	631	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	TRIM14_ENST00000342043.3_Missense_Mutation_p.V208I|TRIM14_ENST00000375098.3_Missense_Mutation_p.V208I|TRIM14_ENST00000538344.1_5'Flank	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	208					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V208I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AAGCTCTTGACGGGCTCAAAG	0.582																																					Colon(14;460 597 13826 51781)	uc004ayd.2																			1	Substitution - Missense(1)		endometrium(1)	central_nervous_system(1)	1						c.(622-624)GTC>ATC		tripartite motif protein TRIM14 isoform alpha		C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	102.0	94.0	97.0		622,622,622	1.6	1.0	9	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	TRIM14	NM_014788.2,NM_033219.1,NM_033220.1	29,29,29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign,benign,benign	208/443,208/443,208/443	100857227	4,13002	2203	4300	6503	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100857227C>T	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.622G>A	9.37:g.100857227C>T	ENSP00000344208:p.Val208Ile					TRIM14_uc004ayf.1_Missense_Mutation_p.V115I|TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.V208I|TRIM14_uc004ayh.1_Missense_Mutation_p.V208I|TRIM14_uc004ayi.1_Missense_Mutation_p.V208I|TRIM14_uc004ayj.1_Missense_Mutation_p.V115I	p.V208I	NM_033220	NP_150089	Q14142	TRI14_HUMAN			4	640	-		Acute lymphoblastic leukemia(62;0.0559)	208					A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.622G>A	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	C	7.035	0.561372	0.13498	2.27E-4	3.49E-4	ENSG00000106785	ENST00000375098;ENST00000311688;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000375092	T;T;T	0.58060	0.36;0.36;0.36	5.49	1.63	0.23807	.	0.513806	0.17658	N	0.166431	T	0.34803	0.0910	L	0.42245	1.32	0.58432	D	0.999996	P;B;B;B	0.50819	0.939;0.014;0.002;0.001	B;B;B;B	0.35931	0.214;0.005;0.001;0.0	T	0.08046	-1.0741	10	0.24483	T	0.36	.	7.9383	0.29944	0.0:0.5876:0.0:0.4124	.	51;208;208;208	F8W956;Q14142-2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	I	208;51;208;208;208;208	ENSP00000364239:V208I;ENSP00000344208:V208I;ENSP00000343990:V208I	ENSP00000307909:V51I	V	-	1	0	TRIM14	99897048	0.001000	0.12720	0.984000	0.44739	0.375000	0.29983	-0.309000	0.08145	0.033000	0.15463	-0.254000	0.11334	GTC		0.582	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788	
C9orf163	158055	broad.mit.edu	37	9	139379109	139379109	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr9:139379109G>A	ENST00000354376.1	+	1	1163	c.209G>A	c.(208-210)gGg>gAg	p.G70E		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	70										kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		GTGAGGGAGGGGGTGATATCC	0.687																																						uc004chy.2																			0					0						c.(208-210)GGG>GAG		hypothetical protein LOC158055							21.0	23.0	22.0					9																	139379109		2200	4298	6498	SO:0001583	missense	158055						protein binding	g.chr9:139379109G>A	AK055336	CCDS7001.1	9q34.3	2006-03-21			ENSG00000196366	ENSG00000196366			26718	protein-coding gene	gene with protein product							Standard	NM_152571		Approved	FLJ36779	uc004chy.3	Q8N9P6	OTTHUMG00000131725	ENST00000354376.1:c.209G>A	9.37:g.139379109G>A	ENSP00000346345:p.Gly70Glu					SEC16A_uc004chx.2_5'Flank|SEC16A_uc010nbo.1_5'Flank	p.G70E	NM_152571	NP_689784	Q8N9P6	CI163_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)	1	1163	+		Myeloproliferative disorder(178;0.0511)	70						Missense_Mutation	SNP	ENST00000354376.1	37	c.209G>A	CCDS7001.1	.	.	.	.	.	.	.	.	.	.	G	8.628	0.892961	0.17613	.	.	ENSG00000196366	ENST00000354376	T	0.58506	0.33	3.7	1.48	0.22813	.	.	.	.	.	T	0.30262	0.0759	N	0.08118	0	0.09310	N	1	P	0.41393	0.748	B	0.32980	0.156	T	0.12837	-1.0532	9	0.87932	D	0	.	6.1215	0.20155	0.2899:0.0:0.7101:0.0	.	70	Q8N9P6	CI163_HUMAN	E	70	ENSP00000346345:G70E	ENSP00000346345:G70E	G	+	2	0	C9orf163	138498930	0.990000	0.36364	0.001000	0.08648	0.068000	0.16541	0.250000	0.18235	0.153000	0.19213	0.511000	0.50034	GGG		0.687	C9orf163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254644.1	NM_152571	
PRKX	5613	broad.mit.edu	37	X	3573336	3573336	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:3573336G>C	ENST00000262848.5	-	3	807	c.453C>G	c.(451-453)ttC>ttG	p.F151L	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CTGCAGAGTAGAAGAGCCCCG	0.587																																						uc010nde.2																			0				skin(2)|lung(1)	3						c.(451-453)TTC>TTG		protein kinase, X-linked							100.0	89.0	93.0					X																	3573336		2203	4300	6503	SO:0001583	missense	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3573336G>C		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.453C>G	X.37:g.3573336G>C	ENSP00000262848:p.Phe151Leu						p.F151L	NM_005044	NP_005035	P51817	PRKX_HUMAN			3	820	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	151			Protein kinase.			Missense_Mutation	SNP	ENST00000262848.5	37	c.453C>G	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202976	0.38905	.	.	ENSG00000183943	ENST00000262848	T	0.64991	-0.13	3.7	-1.23	0.09465	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64820	-0.6317	10	0.87932	D	0	-23.8565	8.3092	0.32060	0.7833:0.0:0.2167:0.0	.	151	P51817	PRKX_HUMAN	L	151	ENSP00000262848:F151L	ENSP00000262848:F151L	F	-	3	2	PRKX	3583336	1.000000	0.71417	0.019000	0.16419	0.246000	0.25737	1.205000	0.32308	-0.238000	0.09724	0.529000	0.55759	TTC		0.587	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044	
MSL3	10943	broad.mit.edu	37	X	11790274	11790274	+	Splice_Site	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:11790274G>A	ENST00000312196.4	+	11	1386		c.e11-1		MSL3_ENST00000398527.2_Splice_Site|MSL3_ENST00000361672.2_Splice_Site|MSL3_ENST00000380693.3_Splice_Site	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GCTTTTTCCAGGTCCTCTCCT	0.443																																						uc004cuw.2																			0				ovary(1)	1						c.e11-1		male-specific lethal 3-like 1 isoform a							120.0	112.0	115.0					X																	11790274		2203	4300	6503	SO:0001630	splice_region_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11790274G>A	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1282-1G>A	X.37:g.11790274G>A						MSL3_uc004cux.2_Splice_Site_p.V369_splice|MSL3_uc011mig.1_Splice_Site_p.V279_splice|MSL3_uc011mih.1_Splice_Site_p.V416_splice|MSL3_uc004cuy.2_Splice_Site_p.V262_splice	p.V428_splice	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			11	1387	+								A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Splice_Site	SNP	ENST00000312196.4	37	c.1282_splice	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762957	0.49574	.	.	ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693	.	.	.	4.14	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0908	0.59166	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSL3	11700195	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	8.588000	0.90813	2.062000	0.61559	0.600000	0.82982	.		0.443	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800	Intron
XK	7504	broad.mit.edu	37	X	37545375	37545375	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:37545375C>T	ENST00000378616.3	+	1	364	c.161C>T	c.(160-162)aCg>aTg	p.T54M	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	54					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTGCAGCTCACGCTTCTCTTC	0.662																																						uc004ddq.2																			0					0						c.(160-162)ACG>ATG		membrane transport protein XK							39.0	29.0	33.0					X																	37545375		2202	4299	6501	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37545375C>T	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.161C>T	X.37:g.37545375C>T	ENSP00000367879:p.Thr54Met						p.T54M	NM_021083	NP_066569	P51811	XK_HUMAN			1	243	+		all_lung(315;0.175)	54			Helical; (Potential).		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.161C>T	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394393	0.83011	.	.	ENSG00000047597	ENST00000378616	T	0.64991	-0.13	5.29	5.29	0.74685	.	0.098289	0.64402	D	0.000002	T	0.76730	0.4028	M	0.75264	2.295	0.48511	D	0.999666	D	0.89917	1.0	D	0.72338	0.977	T	0.77202	-0.2674	10	0.42905	T	0.14	.	12.6748	0.56887	0.0:0.6727:0.3273:0.0	.	54	P51811	XK_HUMAN	M	54	ENSP00000367879:T54M	ENSP00000367879:T54M	T	+	2	0	XK	37430294	0.995000	0.38212	1.000000	0.80357	0.974000	0.67602	1.662000	0.37418	2.184000	0.69523	0.506000	0.49869	ACG		0.662	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083	
UBA1	7317	broad.mit.edu	37	X	47069360	47069360	+	Silent	SNP	G	G	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:47069360G>C	ENST00000335972.6	+	18	2220	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L	UBA1_ENST00000377351.4_Silent_p.L679L|UBA1_ENST00000377269.3_Silent_p.L127L	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	679					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTGCGGCTGGCAGGCACTC	0.607																																						uc004dhj.3																			0				ovary(1)	1						c.(2035-2037)CTG>CTC		ubiquitin-activating enzyme E1							74.0	70.0	71.0					X																	47069360		2202	4300	6502	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47069360G>C	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2037G>C	X.37:g.47069360G>C						UBA1_uc004dhk.3_Silent_p.L679L|UBA1_uc004dhm.2_Silent_p.L127L	p.L679L	NM_153280	NP_695012	P22314	UBA1_HUMAN			18	2188	+			679					Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.2037G>C	CCDS14275.1																																																																																				0.607	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	
OTUD5	55593	broad.mit.edu	37	X	48814296	48814296	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:48814296G>A	ENST00000156084.4	-	1	597	c.537C>T	c.(535-537)gaC>gaT	p.D179D	OTUD5_ENST00000396743.3_Silent_p.D179D|OTUD5_ENST00000376488.3_Silent_p.D179D|RNU6-722P_ENST00000411377.1_RNA|OTUD5_ENST00000428668.2_Intron|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	179					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCTCATACTCGTCCTCACTGT	0.677													G|||	1	0.000264901	0.0	0.0	3775	,	,		9495	0.0		0.001	False		,,,				2504	0.0					uc004dlu.2																			0				pancreas(1)	1						c.(535-537)GAC>GAT		OTU domain containing 5 isoform a							37.0	21.0	27.0					X																	48814296		2200	4298	6498	SO:0001819	synonymous_variant	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48814296G>A		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.537C>T	X.37:g.48814296G>A						OTUD5_uc004dlt.3_Silent_p.D179D|OTUD5_uc004dlv.2_Silent_p.D179D|OTUD5_uc011mmp.1_Intron	p.D179D	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN			1	598	-			179					B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Silent	SNP	ENST00000156084.4	37	c.537C>T	CCDS14313.1																																																																																				0.677	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602	
TEX11	56159	broad.mit.edu	37	X	69871358	69871358	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:69871358G>A	ENST00000395889.2	-	18	1625	c.1470C>T	c.(1468-1470)aaC>aaT	p.N490N	TEX11_ENST00000374320.2_Silent_p.N165N|TEX11_ENST00000344304.3_Silent_p.N490N|TEX11_ENST00000374333.2_Silent_p.N475N	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	490					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GAGTGAAAACGTTCCTAGGGT	0.358																																						uc004dyl.2																			0				ovary(3)|breast(1)|skin(1)	5						c.(1468-1470)AAC>AAT		testis expressed sequence 11 isoform 1							49.0	46.0	47.0					X																	69871358		2203	4300	6503	SO:0001819	synonymous_variant	56159						protein binding	g.chrX:69871358G>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1470C>T	X.37:g.69871358G>A						TEX11_uc004dyk.2_Silent_p.N165N|TEX11_uc004dym.2_Silent_p.N475N	p.N490N	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			18	1632	-	Renal(35;0.156)		490					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	c.1470C>T	CCDS35323.1																																																																																				0.358	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
CXorf57	55086	broad.mit.edu	37	X	105855567	105855567	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:105855567C>T	ENST00000372548.4	+	1	366	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CXorf57_ENST00000372544.2_Missense_Mutation_p.T86M	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	86							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGCGACACGGTGCCCAAG	0.557																																						uc004emi.3																			0				ovary(1)|lung(1)|breast(1)	3						c.(256-258)ACG>ATG		hypothetical protein LOC55086							99.0	88.0	92.0					X																	105855567		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105855567C>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.257C>T	X.37:g.105855567C>T	ENSP00000361628:p.Thr86Met					CXorf57_uc004emj.3_Missense_Mutation_p.T86M|CXorf57_uc004emh.2_Missense_Mutation_p.T86M	p.T86M	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			1	408	+			86					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.257C>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	5.082	0.200706	0.09652	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.80480	-1.38;-1.38	4.0	-5.27	0.02763	Nucleic acid-binding, OB-fold-like (1);	1.950530	0.02539	N	0.094457	T	0.67571	0.2907	L	0.43152	1.355	0.09310	N	1	B;B;B	0.25719	0.132;0.079;0.079	B;B;B	0.14578	0.011;0.011;0.011	T	0.47195	-0.9136	10	0.54805	T	0.06	5.7717	0.0829	0.00033	0.2557:0.2252:0.2321:0.287	.	86;86;86	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	M	86	ENSP00000361623:T86M;ENSP00000361628:T86M	ENSP00000361623:T86M	T	+	2	0	CXorf57	105742223	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-1.312000	0.02720	-1.776000	0.01285	-0.192000	0.12808	ACG		0.557	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
TMEM164	84187	broad.mit.edu	37	X	109247264	109247264	+	Nonsense_Mutation	SNP	G	G	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:109247264G>T	ENST00000372073.1	+	2	598	c.262G>T	c.(262-264)Gag>Tag	p.E88*	TMEM164_ENST00000372068.2_Nonsense_Mutation_p.E88*|TMEM164_ENST00000288381.4_Nonsense_Mutation_p.E88*|TMEM164_ENST00000372072.3_Intron			Q5U3C3	TM164_HUMAN	transmembrane protein 164	88						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GGAAGGCAAGGAGAGCCTGAG	0.617																																						uc004eom.2																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(262-264)GAG>TAG		transmembrane protein 164 isoform b							73.0	55.0	61.0					X																	109247264		2203	4300	6503	SO:0001587	stop_gained	84187					integral to membrane		g.chrX:109247264G>T	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.262G>T	X.37:g.109247264G>T	ENSP00000361143:p.Glu88*					TMEM164_uc004eol.2_Intron|TMEM164_uc010npq.2_Nonsense_Mutation_p.E88*	p.E88*	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN			2	581	+			88					B3KSQ8|F5H2P2	Nonsense_Mutation	SNP	ENST00000372073.1	37	c.262G>T	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	G	38	7.252894	0.98164	.	.	ENSG00000157600	ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	.	.	.	4.33	4.33	0.51752	.	0.114225	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-3.0001	16.1811	0.81903	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000288381:E88X	E	+	1	0	TMEM164	109133920	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.327000	0.96396	1.984000	0.57885	0.513000	0.50165	GAG		0.617	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227	
TREX2	11219	broad.mit.edu	37	X	152710600	152710600	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:152710600C>T	ENST00000334497.2	-	11	1559	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000370231.2_Missense_Mutation_p.V97M|TREX2_ENST00000370232.1_Missense_Mutation_p.V140M|TREX2_ENST00000330912.2_Missense_Mutation_p.V97M|TREX2_ENST00000338525.2_Missense_Mutation_p.V97M|TREX2_ENST00000393862.2_Missense_Mutation_p.V97M|TREX2_ENST00000414588.1_Missense_Mutation_p.V139M|TREX2_ENST00000402951.1_Missense_Mutation_p.V140M			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	140					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)	p.V140M(1)|p.V97M(1)		endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCGCACCACGGCGCCATCA	0.657								Editing and processing nucleases																														uc010nue.1																			2	Substitution - Missense(2)		endometrium(2)	large_intestine(1)	1						c.(415-417)GTG>ATG	Editing_and_processing_nucleases	three prime repair exonuclease 2							13.0	12.0	12.0					X																	152710600		2194	4283	6477	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710600C>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.418G>A	X.37:g.152710600C>T	ENSP00000334993:p.Val140Met					TREX2_uc010nud.1_Missense_Mutation_p.V97M|TREX2_uc011myp.1_Missense_Mutation_p.V97M|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	p.V139M	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN			3	531	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		140					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.415G>A		.	.	.	.	.	.	.	.	.	.	C	13.24	2.179148	0.38511	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.16	5.16	0.70880	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.168275	0.27262	U	0.020175	T	0.55609	0.1931	M	0.83012	2.62	0.29216	N	0.874284	D;D	0.89917	1.0;1.0	D;D	0.70935	0.957;0.971	T	0.59048	-0.7527	10	0.62326	D	0.03	-22.7808	10.9787	0.47482	0.0:0.8154:0.1846:0.0	.	139;140	Q06S70;Q9BQ50	.;TREX2_HUMAN	M	97;97;97;140;140;140;139;97	ENSP00000377442:V97M;ENSP00000333441:V97M;ENSP00000345218:V97M;ENSP00000334993:V140M;ENSP00000359252:V140M;ENSP00000386078:V140M;ENSP00000401692:V139M;ENSP00000359251:V97M	ENSP00000333441:V97M	V	-	1	0	TREX2	152363794	0.974000	0.33945	0.588000	0.28705	0.032000	0.12392	2.344000	0.44010	2.136000	0.66102	0.468000	0.43344	GTG		0.657	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701	
ATP2B3	492	broad.mit.edu	37	X	152830482	152830482	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:152830482A>T	ENST00000349466.2	+	20	3589	c.3263A>T	c.(3262-3264)gAa>gTa	p.E1088V	ATP2B3_ENST00000263519.4_Missense_Mutation_p.E1088V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E1088V|ATP2B3_ENST00000370186.1_Missense_Mutation_p.E1074V|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E1074V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E1074V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1088					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGCGAGGAAGAGATCGAC	0.662																																						uc004fht.1																			0				pancreas(1)	1						c.(3262-3264)GAA>GTA		plasma membrane calcium ATPase 3 isoform 3b							28.0	26.0	26.0					X																	152830482		2199	4293	6492	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152830482A>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3263A>T	X.37:g.152830482A>T	ENSP00000343886:p.Glu1088Val					ATP2B3_uc004fhs.1_Missense_Mutation_p.E1088V|ATP2B3_uc010nuf.1_Missense_Mutation_p.E111V|ATP2B3_uc004fhu.1_Missense_Mutation_p.E11V	p.E1088V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			19	3389	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1088			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.3263A>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077620	0.76528	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.94376	-3.4;-3.41;-3.4;-3.41;-3.41;-3.4	4.63	4.63	0.57726	.	0.133036	0.52532	D	0.000075	D	0.95714	0.8606	M	0.65498	2.005	0.58432	D	0.999996	D;B;P;P	0.89917	1.0;0.196;0.927;0.758	D;B;P;P	0.83275	0.996;0.249;0.732;0.723	D	0.95875	0.8894	10	0.72032	D	0.01	-9.5598	12.447	0.55657	1.0:0.0:0.0:0.0	.	1074;1074;1088;1088	Q16720-3;Q16720-4;Q16720;Q16720-2	.;.;AT2B3_HUMAN;.	V	1074;1088;1074;1088;1088;1074	ENSP00000359205:E1074V;ENSP00000343886:E1088V;ENSP00000377425:E1074V;ENSP00000352062:E1088V;ENSP00000263519:E1088V;ENSP00000359200:E1074V	ENSP00000263519:E1088V	E	+	2	0	ATP2B3	152483676	1.000000	0.71417	0.989000	0.46669	0.647000	0.38526	7.464000	0.80887	1.643000	0.50594	0.475000	0.43553	GAA		0.662	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
