#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CLCNKA	1187	broad.mit.edu	37	1	16359745	16359745	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:16359745G>C	ENST00000331433.4	+	19	2029	c.2010G>C	c.(2008-2010)tgG>tgC	p.W670C	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.W627C|CLCNKA_ENST00000375692.1_Missense_Mutation_p.W669C|CLCNKA_ENST00000420078.1_Missense_Mutation_p.W669C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	670	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCGTGTCCTGGGTGGAGGTAC	0.617											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001axu.2		NA																	0				ovary(1)	1						c.(2008-2010)TGG>TGC		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						136.0	125.0	128.0					1																	16359745		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16359745G>C		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.2010G>C	1.37:g.16359745G>C	ENSP00000332771:p.Trp670Cys		OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	709	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.W669C|CLCNKA_uc010obw.1_Missense_Mutation_p.W627C|CLCNKB_uc001axw.3_Intron	p.W670C	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	19	2090	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	670			CBS 2.		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.2010G>C	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129704	0.37630	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	3.02	3.02	0.34903	Cystathionine beta-synthase, core (2);	0.151889	0.48767	D	0.000166	D	0.95551	0.8554	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.995;0.996	D	0.95118	0.8244	10	0.72032	D	0.01	.	9.6459	0.39868	0.0:0.0:1.0:0.0	.	627;669;670	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	C	669;669;627;670	ENSP00000364844:W669C;ENSP00000410353:W669C;ENSP00000414445:W627C;ENSP00000332771:W670C	ENSP00000332771:W670C	W	+	3	0	CLCNKA	16232332	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	2.902000	0.48703	1.674000	0.50907	0.313000	0.20887	TGG		0.617	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			28	136	0	0	0	0	28	136				
EPHA2	1969	broad.mit.edu	37	1	16464347	16464347	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:16464347C>A	ENST00000358432.5	-	5	1467		c.e5+1			NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTGGACCTCACCTGTCTGGTT	0.622																																						uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.e5+1		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						41.0	41.0	41.0					1																	16464347		2203	4300	6503	SO:0001630	splice_region_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464347C>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1312+1G>T	1.37:g.16464347C>A						EPHA2_uc010oca.1_Splice_Site_p.E438_splice	p.E438_splice	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1449	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B5A968|Q8N3Z2	Splice_Site	SNP	ENST00000358432.5	37	c.1312_splice	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564688	0.65651	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8242	0.78686	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA2	16336934	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.308000	0.78929	2.419000	0.82065	0.462000	0.41574	.		0.622	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	Intron	25	35	1	0	0.00106085	0.00110962	25	35				
PADI4	23569	broad.mit.edu	37	1	17674531	17674531	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:17674531C>G	ENST00000375448.4	+	10	1169	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	PADI4_ENST00000487048.1_3'UTR|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	381					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGTTTCCCATCAAACGCGTGA	0.587																																						uc001baj.2		NA																	0				ovary(1)|skin(1)	2						c.(1141-1143)ATC>ATG		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						89.0	80.0	83.0					1																	17674531		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17674531C>G	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1143C>G	1.37:g.17674531C>G	ENSP00000364597:p.Ile381Met					PADI4_uc009vpc.2_Missense_Mutation_p.I381M	p.I381M	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	10	1171	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	381					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.1143C>G	CCDS180.1	.	.	.	.	.	.	.	.	.	.	-	11.40	1.629030	0.28978	.	.	ENSG00000159339	ENST00000375448	T	0.24908	1.83	4.85	4.85	0.62838	Protein-arginine deiminase, C-terminal (1);	0.808768	0.11639	N	0.543944	T	0.24928	0.0605	N	0.25890	0.77	0.09310	N	0.999995	B;P	0.48998	0.006;0.918	B;P	0.49752	0.023;0.621	T	0.06092	-1.0846	10	0.31617	T	0.26	-9.1568	9.0461	0.36347	0.0:0.9017:0.0:0.0983	.	381;381	A8K392;Q9UM07	.;PADI4_HUMAN	M	381	ENSP00000364597:I381M	ENSP00000364597:I381M	I	+	3	3	PADI4	17547118	0.134000	0.22483	0.176000	0.23000	0.761000	0.43186	0.042000	0.13949	2.525000	0.85131	0.518000	0.50308	ATC		0.587	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		7	23	0	0	0	0	7	23				
HMGN2	3151	broad.mit.edu	37	1	26801616	26801616	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:26801616G>A	ENST00000361427.5	+	6	344	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	84						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACAGAAAGCTGAAGGTGCTGG	0.368																																						uc001bmp.3		NA																	0					0						c.(250-252)GAA>AAA		high-mobility group nucleosomal binding domain							206.0	194.0	198.0					1																	26801616		2203	4300	6503	SO:0001583	missense	3151				chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding	g.chr1:26801616G>A	BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.250G>A	1.37:g.26801616G>A	ENSP00000355228:p.Glu84Lys					HMGN2_uc009vsk.2_Missense_Mutation_p.E69K|HMGN2_uc001bmq.3_Silent_p.L117L	p.E84K	NM_005517	NP_005508	P05204	HMGN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	6	452	+		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	84					Q0VGD5|Q6FGI5|Q96C64	Missense_Mutation	SNP	ENST00000361427.5	37	c.250G>A	CCDS283.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703965	0.68501	.	.	ENSG00000198830	ENST00000361427	.	.	.	5.48	5.48	0.80851	.	0.208625	0.28653	U	0.014587	T	0.65354	0.2683	.	.	.	0.41956	D	0.99068	D	0.56287	0.975	P	0.48704	0.587	T	0.69595	-0.5103	8	0.66056	D	0.02	.	18.7114	0.91658	0.0:0.0:1.0:0.0	.	84	P05204	HMGN2_HUMAN	K	84	.	ENSP00000355228:E84K	E	+	1	0	HMGN2	26674203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.685000	0.74543	2.730000	0.93505	0.655000	0.94253	GAA		0.368	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009901.1	NM_005517		14	66	0	0	0	0	14	66				
CSMD2	114784	broad.mit.edu	37	1	34003072	34003072	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:34003072C>G	ENST00000373381.4	-	61	9945	c.9769G>C	c.(9769-9771)Gat>Cat	p.D3257H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATGTCCCATCTGACTGGCAA	0.607																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(9337-9339)GAT>CAT		CUB and Sushi multiple domains 2							104.0	103.0	104.0					1																	34003072		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34003072C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9769G>C	1.37:g.34003072C>G	ENSP00000362479:p.Asp3257His					CSMD2_uc001bxm.1_Missense_Mutation_p.D3257H	p.D3113H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			60	9366	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3113			Extracellular (Potential).|Sushi 24.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9337G>C		.	.	.	.	.	.	.	.	.	.	C	15.57	2.871725	0.51695	.	.	ENSG00000121904	ENST00000373381	T	0.67865	-0.29	5.66	4.74	0.60224	Complement control module (2);Sushi/SCR/CCP (3);	0.110266	0.64402	N	0.000012	D	0.85737	0.5766	M	0.93420	3.415	0.80722	D	1	D;D	0.76494	0.981;0.999	D;D	0.76575	0.971;0.988	D	0.88479	0.3067	10	0.45353	T	0.12	.	15.7241	0.77740	0.0:0.863:0.137:0.0	.	3113;3257	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	3257	ENSP00000362479:D3257H	ENSP00000241312:D3113H	D	-	1	0	CSMD2	33775659	1.000000	0.71417	0.986000	0.45419	0.012000	0.07955	7.718000	0.84743	1.378000	0.46305	-0.315000	0.08773	GAT		0.607	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		15	110	0	0	0	0	15	110				
EPHA10	284656	broad.mit.edu	37	1	38227248	38227248	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:38227248C>T	ENST00000373048.4	-	3	678	c.679G>A	c.(679-681)Gag>Aag	p.E227K	EPHA10_ENST00000427468.2_Missense_Mutation_p.E227K|EPHA10_ENST00000319637.6_Missense_Mutation_p.E227K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	227					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGCGCTCTCGGCTGCGGTG	0.716																																						uc009vvi.2		NA																	0				breast(4)|stomach(3)|lung(1)	8						c.(679-681)GAG>AAG		EPH receptor A10 isofom 3							12.0	14.0	13.0					1																	38227248		2186	4261	6447	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227248C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.679G>A	1.37:g.38227248C>T	ENSP00000362139:p.Glu227Lys					EPHA10_uc001cbw.3_Missense_Mutation_p.E227K	p.E227K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	765	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	227			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.679G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647932	0.67358	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.75589	-0.95;-0.95;4.48	4.53	3.61	0.41365	.	0.171607	0.28026	N	0.016892	T	0.74107	0.3673	M	0.71581	2.175	0.80722	D	1	D;P	0.58970	0.984;0.945	B;B	0.43508	0.241;0.422	T	0.79035	-0.1968	10	0.72032	D	0.01	.	14.0826	0.64934	0.0:0.8481:0.1519:0.0	.	227;227	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	K	227	ENSP00000397746:E227K;ENSP00000362139:E227K;ENSP00000316395:E227K	ENSP00000316395:E227K	E	-	1	0	EPHA10	37999835	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	7.520000	0.81821	1.223000	0.43536	-0.179000	0.13096	GAG		0.716	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		9	10	0	0	0	0	9	10				
TMEM59	9528	broad.mit.edu	37	1	54513022	54513022	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:54513022C>G	ENST00000234831.5	-	2	462	c.213G>C	c.(211-213)caG>caC	p.Q71H	TMEM59_ENST00000371341.1_5'UTR|TMEM59_ENST00000371344.1_5'Flank|TMEM59_ENST00000371337.3_Missense_Mutation_p.Q71H|TMEM59_ENST00000371348.1_5'UTR	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	71					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGCAACCTCTCTGACATGCGT	0.388																																						uc001cwp.2		NA																	0					0						c.(211-213)CAG>CAC		thymic dendritic cell-derived factor 1							116.0	107.0	110.0					1																	54513022		2203	4300	6503	SO:0001583	missense	9528					Golgi membrane|integral to membrane		g.chr1:54513022C>G	AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.213G>C	1.37:g.54513022C>G	ENSP00000234831:p.Gln71His					TMEM59_uc001cwo.2_5'UTR|TMEM59_uc001cwq.2_Missense_Mutation_p.Q71H|TMEM59_uc001cwr.2_Intron|TMEM59_uc001cws.1_Missense_Mutation_p.Q82H	p.Q71H	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN			2	463	-			71			Extracellular (Potential).		B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	ENST00000234831.5	37	c.213G>C	CCDS586.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941028	0.53079	.	.	ENSG00000116209	ENST00000234831;ENST00000371338;ENST00000452421;ENST00000371337	T;T;T	0.49432	0.78;0.81;0.79	5.55	3.69	0.42338	.	0.052604	0.85682	D	0.000000	T	0.56202	0.1969	L	0.46157	1.445	0.53005	D	0.99996	D;D;D	0.67145	0.996;0.995;0.995	D;P;D	0.75484	0.986;0.908;0.936	T	0.51560	-0.8690	10	0.35671	T	0.21	-17.9404	8.2456	0.31686	0.0:0.7058:0.0:0.2942	.	82;71;71	E9PGZ9;D3DQ48;Q9BXS4	.;.;TMM59_HUMAN	H	71;82;82;71	ENSP00000234831:Q71H;ENSP00000397772:Q82H;ENSP00000360388:Q71H	ENSP00000234831:Q71H	Q	-	3	2	TMEM59	54285610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.481000	0.35476	0.904000	0.36572	0.655000	0.94253	CAG		0.388	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023254.2	NM_004872		11	54	0	0	0	0	11	54				
EFCAB7	84455	broad.mit.edu	37	1	64034060	64034060	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:64034060G>T	ENST00000371088.4	+	12	1823	c.1577G>T	c.(1576-1578)gGa>gTa	p.G526V	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	526							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GCATGTAGTGGACAACTTGAG	0.368																																						uc001dbf.2		NA																	0					0						c.(1576-1578)GGA>GTA		EF-hand calcium binding domain 7							120.0	113.0	116.0					1																	64034060		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:64034060G>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1577G>T	1.37:g.64034060G>T	ENSP00000360129:p.Gly526Val						p.G526V	NM_032437	NP_115813	A8K855	EFCB7_HUMAN			12	1871	+			526					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.1577G>T	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293301	0.40594	.	.	ENSG00000203965	ENST00000371088	T	0.58506	0.33	5.77	4.85	0.62838	.	0.221099	0.48286	D	0.000185	T	0.31327	0.0793	L	0.51422	1.61	0.80722	D	1	P	0.44195	0.828	B	0.36378	0.223	T	0.30327	-0.9982	10	0.39692	T	0.17	-12.7923	7.0727	0.25187	0.1927:0.1318:0.6756:0.0	.	526	A8K855	EFCB7_HUMAN	V	526	ENSP00000360129:G526V	ENSP00000360129:G526V	G	+	2	0	EFCAB7	63806648	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.394000	0.52551	2.718000	0.92993	0.551000	0.68910	GGA		0.368	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		11	31	1	0	6.43e-13	7.24e-13	11	31				
DIRAS3	9077	broad.mit.edu	37	1	68512777	68512777	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:68512777C>T	ENST00000370981.1	-	4	840	c.204G>A	c.(202-204)ccG>ccA	p.P68P	DIRAS3_ENST00000395201.1_Silent_p.P68P|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	68					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCAATGGTCGGCAGGTACT	0.597																																						uc001ded.2		NA																	0				skin(1)	1						c.(202-204)CCG>CCA		DIRAS family, GTP-binding RAS-like 3							115.0	115.0	115.0					1																	68512777		2203	4300	6503	SO:0001819	synonymous_variant	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512777C>T	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.204G>A	1.37:g.68512777C>T						uc001deb.1_Intron|uc001dec.1_Intron	p.P68P	NM_004675	NP_004666	O95661	DIRA3_HUMAN			2	499	-			68			Effector region (Potential).		B3KMP3	Silent	SNP	ENST00000370981.1	37	c.204G>A	CCDS641.1																																																																																				0.597	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		25	73	0	0	0	0	25	73				
DEPDC1	55635	broad.mit.edu	37	1	68948554	68948554	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:68948554C>G	ENST00000456315.2	-	8	1051	c.937G>C	c.(937-939)Gat>Cat	p.D313H	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	313	Rho-GAP.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CTGGATCTATCTGAAACTGTG	0.328																																						uc001dem.3		NA																	0					0						c.(937-939)GAT>CAT		DEP domain containing 1 isoform a							72.0	71.0	71.0					1																	68948554		1568	3580	5148	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68948554C>G	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.937G>C	1.37:g.68948554C>G	ENSP00000412292:p.Asp313His					DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Intron	p.D313H	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1054	-			313			Rho-GAP.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.937G>C	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.904007	0.33628	.	.	ENSG00000024526	ENST00000456315;ENST00000370964	T	0.18810	2.19	5.58	2.23	0.28157	Rho GTPase activation protein (1);	0.598425	0.17442	N	0.174061	T	0.03695	0.0105	N	0.08118	0	0.80722	D	1	B	0.29805	0.257	B	0.27380	0.079	T	0.16778	-1.0391	10	0.62326	D	0.03	-7.4046	5.3593	0.16079	0.0:0.4589:0.3583:0.1828	.	313	Q5TB30	DEP1A_HUMAN	H	313;269	ENSP00000412292:D313H	ENSP00000360003:D269H	D	-	1	0	DEPDC1	68721142	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.449000	0.21744	1.312000	0.45043	0.650000	0.86243	GAT		0.328	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		13	66	0	0	0	0	13	66				
AGL	178	broad.mit.edu	37	1	100387120	100387120	+	Silent	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:100387120C>A	ENST00000294724.4	+	34	4990	c.4512C>A	c.(4510-4512)acC>acA	p.T1504T	AGL_ENST00000370165.3_Silent_p.T1504T|AGL_ENST00000361522.4_Silent_p.T1487T|AGL_ENST00000361915.3_Silent_p.T1504T|AGL_ENST00000370161.2_Silent_p.T1488T|AGL_ENST00000370163.3_Silent_p.T1504T|AGL_ENST00000361302.3_Silent_p.T1488T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1504					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CAGAACTGACCAATGAGAATG	0.353																																						uc001dsi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4510-4512)ACC>ACA		amylo-1,6-glucosidase,							81.0	82.0	82.0					1																	100387120		2203	4300	6503	SO:0001819	synonymous_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100387120C>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4512C>A	1.37:g.100387120C>A						AGL_uc001dsj.1_Silent_p.T1504T|AGL_uc001dsk.1_Silent_p.T1504T|AGL_uc001dsl.1_Silent_p.T1504T|AGL_uc001dsm.1_Silent_p.T1488T|AGL_uc001dsn.1_Silent_p.T1487T	p.T1504T	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	34	4912	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1504			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	c.4512C>A	CCDS759.1																																																																																				0.353	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		3	56	1	0	0.00909568	0.0093632	3	56				
PHGDH	26227	broad.mit.edu	37	1	120283058	120283059	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:120283058_120283059GG>AA	ENST00000369409.4	+	9	1131_1132	c.995_996GG>AA	c.(994-996)tGG>tAA	p.W332*	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369407.3_Nonsense_Mutation_p.W298*	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	332					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		ACCAAGCCTTGGATTGGTCTGG	0.609																																						uc001ehz.2		NA																	0				ovary(1)	1						c.(994-996)TGG>TAA		phosphoglycerate dehydrogenase	NADH(DB00157)																																			SO:0001587	stop_gained	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120283058_120283059GG>AA	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	Exception_encountered	1.37:g.120283058_120283059delinsAA	ENSP00000358417:p.Trp332*					PHGDH_uc009whm.2_Nonsense_Mutation_p.W230*|PHGDH_uc001eia.2_Nonsense_Mutation_p.W331*|PHGDH_uc009whn.2_Nonsense_Mutation_p.W332*|PHGDH_uc001eib.2_Nonsense_Mutation_p.W298*|PHGDH_uc001eic.2_5'Flank	p.W332*	NM_006623	NP_006614	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	9	1222_1223	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	332					B2RD08|Q5SZU3|Q9BQ01	Nonsense_Mutation	DNP	ENST00000369409.4	37	c.995_996GG>AA	CCDS904.1																																																																																				0.609	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		8	7	0	0	0	0	8	7				
BCL9	607	broad.mit.edu	37	1	147091006	147091006	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:147091006G>A	ENST00000234739.3	+	8	1785	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	349	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGAGAATCCCGATGGCCTATC	0.577			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(1045-1047)GAT>AAT		B-cell CLL/lymphoma 9							60.0	71.0	67.0					1																	147091006		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091006G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1045G>A	1.37:g.147091006G>A	ENSP00000234739:p.Asp349Asn					BCL9_uc010ozr.1_Missense_Mutation_p.D275N	p.D349N	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	1785	+	all_hematologic(923;0.115)		349			CTNNB1-binding.|Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1045G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917797	0.73098	.	.	ENSG00000116128	ENST00000234739	T	0.58506	0.33	5.46	5.46	0.80206	.	0.046925	0.85682	D	0.000000	T	0.51890	0.1701	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.65815	0.995;0.995	P;P	0.54815	0.761;0.761	T	0.57388	-0.7820	10	0.72032	D	0.01	-15.3906	19.5721	0.95425	0.0:0.0:1.0:0.0	.	349;349	Q1JQ81;O00512	.;BCL9_HUMAN	N	349	ENSP00000234739:D349N	ENSP00000234739:D349N	D	+	1	0	BCL9	145557630	1.000000	0.71417	0.181000	0.23098	0.656000	0.38851	9.407000	0.97325	2.857000	0.98124	0.650000	0.86243	GAT		0.577	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		15	76	0	0	0	0	15	76				
SPRR2B	6701	broad.mit.edu	37	1	153043109	153043109	+	Silent	SNP	C	C	T	rs541636188	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153043109C>T	ENST00000368755.2	-	1	207	c.207G>A	c.(205-207)ccG>ccA	p.P69P	SPRR2B_ENST00000341611.2_Silent_p.P69P|SPRR2B_ENST00000368752.4_Silent_p.P69P			P35325	SPR2B_HUMAN	small proline-rich protein 2B	69					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTCGGTGGATACT	0.532																																						uc001fbg.2		NA																	0					0						c.(205-207)CCG>CCA		small proline-rich protein 2B							249.0	219.0	229.0					1																	153043109		2203	4300	6503	SO:0001819	synonymous_variant	6701				keratinization	cornified envelope|cytoplasm		g.chr1:153043109C>T	AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.207G>A	1.37:g.153043109C>T						SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	p.P69P	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	270	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		69					Q5T528	Silent	SNP	ENST00000368755.2	37	c.207G>A	CCDS30865.1																																																																																				0.532	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038905.2			22	114	0	0	0	0	22	114				
S100A3	6274	broad.mit.edu	37	1	153520180	153520180	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153520180G>C	ENST00000368713.3	-	3	480	c.284C>G	c.(283-285)tCa>tGa	p.S95*	S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Nonsense_Mutation_p.S95*|S100A4_ENST00000481009.1_5'Flank|S100A4_ENST00000368715.1_5'Flank|S100A4_ENST00000368716.4_5'Flank|S100A4_ENST00000354332.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	95						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGGGCTCTGAGGGGCAGTC	0.627																																						uc001fca.1		NA																	0					0						c.(283-285)TCA>TGA		S100 calcium binding protein A3							103.0	97.0	99.0					1																	153520180		2203	4300	6503	SO:0001587	stop_gained	6274						calcium ion binding|protein binding	g.chr1:153520180G>C	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"""S100 calcium binding proteins"""	10493	protein-coding gene	gene with protein product		176992	"""S100 calcium-binding protein A3"""	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.284C>G	1.37:g.153520180G>C	ENSP00000357702:p.Ser95*					S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	p.S95*	NM_002960	NP_002951	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	367	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		95					D3DV51|Q6FGE4	Nonsense_Mutation	SNP	ENST00000368713.3	37	c.284C>G	CCDS1043.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790817	0.50102	.	.	ENSG00000188015	ENST00000368713;ENST00000368712	.	.	.	5.02	0.836	0.18891	.	0.559624	0.16171	N	0.226314	.	.	.	.	.	.	0.34085	D	0.660003	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	4.42	0.11476	0.292:0.1639:0.5441:0.0	.	.	.	.	X	95	.	ENSP00000357701:S95X	S	-	2	0	S100A3	151786804	0.848000	0.29623	0.003000	0.11579	0.304000	0.27724	0.875000	0.28079	-0.041000	0.13558	0.655000	0.94253	TCA		0.627	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		20	84	0	0	0	0	20	84				
S100A3	6274	broad.mit.edu	37	1	153520231	153520231	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:153520231G>C	ENST00000368713.3	-	3	429	c.233C>G	c.(232-234)tCa>tGa	p.S78*	S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Nonsense_Mutation_p.S78*|S100A4_ENST00000481009.1_5'Flank|S100A4_ENST00000368715.1_5'Flank|S100A4_ENST00000368716.4_5'Flank|S100A4_ENST00000354332.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	78	EF-hand 2.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGGCAAGTGAGCGCACATA	0.562																																						uc001fca.1		NA																	0					0						c.(232-234)TCA>TGA		S100 calcium binding protein A3							215.0	183.0	194.0					1																	153520231		2203	4300	6503	SO:0001587	stop_gained	6274						calcium ion binding|protein binding	g.chr1:153520231G>C	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"""S100 calcium binding proteins"""	10493	protein-coding gene	gene with protein product		176992	"""S100 calcium-binding protein A3"""	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.233C>G	1.37:g.153520231G>C	ENSP00000357702:p.Ser78*					S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	p.S78*	NM_002960	NP_002951	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	316	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		78			EF-hand 2.		D3DV51|Q6FGE4	Nonsense_Mutation	SNP	ENST00000368713.3	37	c.233C>G	CCDS1043.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604049	0.66445	.	.	ENSG00000188015	ENST00000368713;ENST00000368712	.	.	.	4.85	3.92	0.45320	.	0.560933	0.18263	N	0.146542	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7175	0.34421	0.1114:0.0:0.8886:0.0	.	.	.	.	X	78	.	ENSP00000357701:S78X	S	-	2	0	S100A3	151786855	0.012000	0.17670	0.007000	0.13788	0.473000	0.32948	2.026000	0.41069	1.110000	0.41699	0.655000	0.94253	TCA		0.562	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		23	102	0	0	0	0	23	102				
CD1E	913	broad.mit.edu	37	1	158325689	158325689	+	Missense_Mutation	SNP	C	C	T	rs201152862		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:158325689C>T	ENST00000368167.3	+	4	937	c.698C>T	c.(697-699)tCa>tTa	p.S233L	CD1E_ENST00000368157.1_Missense_Mutation_p.S44L|CD1E_ENST00000434258.1_Missense_Mutation_p.S231L|CD1E_ENST00000368165.3_Missense_Mutation_p.S143L|CD1E_ENST00000368155.3_Missense_Mutation_p.S143L|CD1E_ENST00000368154.1_Missense_Mutation_p.S44L|CD1E_ENST00000452291.2_Missense_Mutation_p.S44L|CD1E_ENST00000368161.3_Missense_Mutation_p.S233L|CD1E_ENST00000368156.1_Missense_Mutation_p.S143L|CD1E_ENST00000368164.3_Missense_Mutation_p.S44L|CD1E_ENST00000368160.3_Missense_Mutation_p.S233L|CD1E_ENST00000444681.2_Missense_Mutation_p.S134L|CD1E_ENST00000368163.3_Missense_Mutation_p.S233L|CD1E_ENST00000368166.3_Missense_Mutation_p.S44L	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	233	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGCCATGTCTCAGGATTCTAC	0.587																																						uc001fse.2		NA																	0				skin(3)	3						c.(697-699)TCA>TTA		CD1E antigen isoform a precursor							67.0	66.0	67.0					1																	158325689		2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325689C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.698C>T	1.37:g.158325689C>T	ENSP00000357149:p.Ser233Leu					CD1E_uc010pid.1_Missense_Mutation_p.S231L|CD1E_uc010pie.1_Missense_Mutation_p.S134L|CD1E_uc010pif.1_Missense_Mutation_p.S44L|CD1E_uc001fsd.2_Missense_Mutation_p.S233L|CD1E_uc001fsk.2_Missense_Mutation_p.S143L|CD1E_uc001fsj.2_Missense_Mutation_p.S143L|CD1E_uc001fsc.2_Missense_Mutation_p.S44L|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.S44L|CD1E_uc001fsf.2_Missense_Mutation_p.S233L|CD1E_uc001fry.2_Missense_Mutation_p.S233L|CD1E_uc001fsg.2_Missense_Mutation_p.S44L|CD1E_uc001fsh.2_Missense_Mutation_p.S44L|CD1E_uc001fsi.2_Missense_Mutation_p.S233L|CD1E_uc009wsv.2_Missense_Mutation_p.S134L|CD1E_uc001frz.2_Missense_Mutation_p.S143L|CD1E_uc009wsw.2_5'UTR	p.S233L	NM_030893	NP_112155	P15812	CD1E_HUMAN			4	937	+	all_hematologic(112;0.0378)		233			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.698C>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559148	0.86335	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368164;ENST00000368157;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04;4.04	4.83	4.83	0.62350	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.157818	0.30446	N	0.009602	T	0.08891	0.0220	M	0.69463	2.115	0.28934	N	0.891377	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;0.995;0.999;0.997;0.988;0.992;0.969;0.996;0.999;0.994;1.0;0.999;0.999;0.995;1.0	D;D;D;D;P;D;P;D;D;D;D;D;D;D;D	0.77557	0.988;0.939;0.959;0.959;0.861;0.974;0.582;0.966;0.982;0.926;0.99;0.938;0.971;0.938;0.987	T	0.00770	-1.1573	10	0.87932	D	0	-15.3145	13.2934	0.60284	0.0:1.0:0.0:0.0	.	44;134;231;134;143;143;44;44;233;233;233;44;44;143;233	B4E057;B4E042;E7ET31;E7EP01;P15812-5;P15812-7;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.;.;.	L	231;134;233;44;143;44;233;44;44;233;233;143;143;44	ENSP00000401957:S231L;ENSP00000402906:S134L;ENSP00000357149:S233L;ENSP00000416228:S44L;ENSP00000357147:S143L;ENSP00000357148:S44L;ENSP00000357145:S233L;ENSP00000357146:S44L;ENSP00000357139:S44L;ENSP00000357142:S233L;ENSP00000357143:S233L;ENSP00000357138:S143L;ENSP00000357137:S143L;ENSP00000357136:S44L	ENSP00000357136:S44L	S	+	2	0	CD1E	156592313	0.190000	0.23276	0.778000	0.31720	0.977000	0.68977	3.440000	0.52886	2.518000	0.84900	0.563000	0.77884	TCA		0.587	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		7	55	0	0	0	0	7	55				
IGSF8	93185	broad.mit.edu	37	1	160063016	160063016	+	Missense_Mutation	SNP	C	C	T	rs200398989		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160063016C>T	ENST00000368086.1	-	4	1226	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.R337H			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	337	Ig-like C2-type 3.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGCAGCATGACGGCCTGCTGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17754	0.0		0.001	False		,,,				2504	0.0					uc001fva.2		NA																	0					0						c.(1009-1011)CGT>CAT		immunoglobulin superfamily, member 8							35.0	35.0	35.0					1																	160063016		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160063016C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1010G>A	1.37:g.160063016C>T	ENSP00000357065:p.Arg337His					IGSF8_uc001fuz.2_Missense_Mutation_p.R337H|IGSF8_uc009wtf.2_Missense_Mutation_p.R337H	p.R337H	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		4	1055	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		337			Ig-like C2-type 3.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1010G>A	CCDS1195.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.12	1.263053	0.23051	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475	T;T	0.05717	3.4;3.4	3.65	1.6	0.23607	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.416092	0.17636	N	0.167206	T	0.00998	0.0033	N	0.08118	0	0.30588	N	0.761833	B	0.06786	0.001	B	0.04013	0.001	T	0.46261	-0.9204	10	0.52906	T	0.07	-2.0986	4.8498	0.13531	0.0:0.5307:0.331:0.1383	.	337	Q969P0	IGSF8_HUMAN	H	337	ENSP00000316664:R337H;ENSP00000357065:R337H	ENSP00000316664:R337H	R	-	2	0	IGSF8	158329640	0.004000	0.15560	0.996000	0.52242	0.861000	0.49209	0.203000	0.17315	0.738000	0.32606	0.313000	0.20887	CGT		0.667	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		8	25	0	0	0	0	8	25				
VANGL2	57216	broad.mit.edu	37	1	160389273	160389273	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160389273C>A	ENST00000368061.2	+	4	1148	c.674C>A	c.(673-675)gCc>gAc	p.A225D		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	225					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGTGGACGCCCTTCTTTTC	0.652																																						uc001fwb.1		NA																	0				ovary(1)	1						c.(673-675)GCC>GAC		vang-like 2							95.0	92.0	93.0					1																	160389273		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160389273C>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.674C>A	1.37:g.160389273C>A	ENSP00000357040:p.Ala225Asp					VANGL2_uc001fwc.1_Missense_Mutation_p.A225D	p.A225D	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	973	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		225			Helical; Name=4; (Potential).		D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.674C>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012591	0.93346	.	.	ENSG00000162738	ENST00000368061	D	0.83163	-1.69	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.91939	0.5561	10	0.72032	D	0.01	-20.7602	17.7936	0.88562	0.0:1.0:0.0:0.0	.	225	Q9ULK5	VANG2_HUMAN	D	225	ENSP00000357040:A225D	ENSP00000357040:A225D	A	+	2	0	VANGL2	158655897	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.385000	0.79763	2.606000	0.88127	0.563000	0.77884	GCC		0.652	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		17	67	1	0	4.97e-08	5.43e-08	17	67				
LY9	4063	broad.mit.edu	37	1	160793987	160793987	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:160793987C>G	ENST00000263285.6	+	9	1877	c.1847C>G	c.(1846-1848)tCt>tGt	p.S616C	LY9_ENST00000368041.2_Missense_Mutation_p.S486C|LY9_ENST00000368037.5_Missense_Mutation_p.S602C|LY9_ENST00000392203.4_Missense_Mutation_p.S526C|LY9_ENST00000341032.4_Missense_Mutation_p.S482C|LY9_ENST00000368040.1_Intron			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	616					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCCCAGTTTCTCAGAAGGAA	0.498																																						uc001fwu.2		NA																	0				ovary(1)	1						c.(1846-1848)TCT>TGT		lymphocyte antigen 9 isoform a							174.0	169.0	171.0					1																	160793987		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160793987C>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1847C>G	1.37:g.160793987C>G	ENSP00000263285:p.Ser616Cys					LY9_uc001fwv.2_Missense_Mutation_p.S602C|LY9_uc001fww.2_Missense_Mutation_p.S526C|LY9_uc001fwx.2_Intron|LY9_uc001fwz.2_Intron	p.S616C	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		9	1897	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		616			Cytoplasmic (Potential).		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1847C>G	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018447	0.19355	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.37915	1.17;1.19	3.57	2.5	0.30297	.	0.437398	0.15284	N	0.270502	T	0.19846	0.0477	L	0.36672	1.1	0.09310	N	0.999994	D;D;D	0.61080	0.964;0.989;0.981	B;P;P	0.51550	0.431;0.673;0.473	T	0.03259	-1.1055	10	0.87932	D	0	-0.7332	6.7451	0.23456	0.0:0.8544:0.0:0.1456	.	482;602;616	E7EME5;Q9HBG7-2;Q9HBG7	.;.;LY9_HUMAN	C	616;482;616;486;562;384	ENSP00000342921:S482C;ENSP00000263285:S616C	ENSP00000263285:S616C	S	+	2	0	LY9	159060611	0.391000	0.25221	0.052000	0.19188	0.037000	0.13140	0.662000	0.25038	0.897000	0.36392	0.563000	0.77884	TCT		0.498	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		33	100	0	0	0	0	33	100				
LAMC1	3915	broad.mit.edu	37	1	183086470	183086470	+	Missense_Mutation	SNP	G	G	A	rs148393996	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:183086470G>A	ENST00000258341.4	+	9	1837	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	527	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GATGGGTGGCGTGCGGAACAG	0.463																																						uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(1579-1581)CGT>CAT		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						136.0	117.0	123.0					1																	183086470		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183086470G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1580G>A	1.37:g.183086470G>A	ENSP00000258341:p.Arg527His						p.R527H	NM_002293	NP_002284	P11047	LAMC1_HUMAN			9	1837	+			527			Laminin IV type A.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1580G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471306	0.26423	.	.	ENSG00000135862	ENST00000258341	T	0.31510	1.49	5.04	-0.00617	0.14015	Laminin B type IV (1);	0.551787	0.18341	N	0.144186	T	0.18593	0.0446	L	0.39898	1.24	0.22656	N	0.998889	B	0.02656	0.0	B	0.01281	0.0	T	0.30880	-0.9963	10	0.13470	T	0.59	.	6.3394	0.21314	0.5286:0.1345:0.3368:0.0	.	527	P11047	LAMC1_HUMAN	H	527	ENSP00000258341:R527H	ENSP00000258341:R527H	R	+	2	0	LAMC1	181353093	0.000000	0.05858	0.535000	0.28026	0.953000	0.61014	-2.711000	0.00817	-0.277000	0.09193	-0.931000	0.02705	CGT		0.463	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		3	27	0	0	0	0	3	27				
CENPF	1063	broad.mit.edu	37	1	214818774	214818774	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:214818774C>T	ENST00000366955.3	+	13	6029	c.5861C>T	c.(5860-5862)tCa>tTa	p.S1954L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2050					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.S1954L(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGAACTCTCAGTGGTCACA	0.393																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(5860-5862)TCA>TTA		centromere protein F							65.0	70.0	68.0					1																	214818774		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818774C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5861C>T	1.37:g.214818774C>T	ENSP00000355922:p.Ser1954Leu						p.S1954L	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6035	+			2050			Potential.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.5861C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784594	0.31593	.	.	ENSG00000117724	ENST00000366955	T	0.43294	0.95	5.35	2.47	0.30058	.	0.790712	0.10464	N	0.671602	T	0.36358	0.0964	M	0.64997	1.995	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.32851	-0.9891	10	0.27785	T	0.31	.	4.7173	0.12901	0.0:0.3953:0.2686:0.3361	.	2050	P49454	CENPF_HUMAN	L	1954	ENSP00000355922:S1954L	ENSP00000355922:S1954L	S	+	2	0	CENPF	212885397	0.002000	0.14202	0.320000	0.25306	0.564000	0.35744	0.184000	0.16939	0.249000	0.21456	0.609000	0.83330	TCA		0.393	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		13	51	0	0	0	0	13	51				
OR2L13	284521	broad.mit.edu	37	1	248263205	248263205	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:248263205C>A	ENST00000358120.2	+	2	673	c.528C>A	c.(526-528)ttC>ttA	p.F176L	OR2L13_ENST00000366478.2_Missense_Mutation_p.F176L			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TTGACCATTTCTTCTGCGATG	0.463																																						uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(526-528)TTC>TTA		olfactory receptor, family 2, subfamily L,							260.0	228.0	239.0					1																	248263205		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263205C>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.528C>A	1.37:g.248263205C>A	ENSP00000350836:p.Phe176Leu						p.F176L	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	865	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		176			Extracellular (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.528C>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343959	0.61073	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00346	8.01;8.01	4.21	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000114	T	0.00384	0.0012	M	0.84683	2.71	0.25764	N	0.984911	B	0.33288	0.406	B	0.36134	0.218	T	0.32375	-0.9909	10	0.62326	D	0.03	.	7.6327	0.28249	0.0:0.5486:0.0:0.4514	.	176	Q8N349	OR2LD_HUMAN	L	176	ENSP00000355434:F176L;ENSP00000350836:F176L	ENSP00000350836:F176L	F	+	3	2	OR2L13	246329828	0.001000	0.12720	0.957000	0.39632	0.798000	0.45092	-0.106000	0.10890	0.078000	0.16900	0.650000	0.86243	TTC		0.463	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		26	135	1	0	4.78e-09	5.3e-09	26	135				
ITGB1	3688	broad.mit.edu	37	10	33211192	33211193	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:33211192_33211193GC>AA	ENST00000396033.2	-	9	1255_1256	c.1120_1121GC>TT	c.(1120-1122)GCa>TTa	p.A374L	ITGB1_ENST00000423113.1_Missense_Mutation_p.A374L|ITGB1_ENST00000374956.4_Missense_Mutation_p.A374L|ITGB1_ENST00000302278.3_Missense_Mutation_p.A374L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	374	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CACATTGTATGCATCAATGATC	0.327																																						uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1120-1122)GCA>TTA		integrin beta 1 isoform 1A precursor																																				SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33211192_33211193GC>AA	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1120_1121delinsAA	10.37:g.33211192_33211193delinsAA	ENSP00000379350:p.Ala374Leu					ITGB1_uc001iwp.3_Missense_Mutation_p.A374L|ITGB1_uc001iwq.3_Missense_Mutation_p.A374L|ITGB1_uc001iwr.3_Missense_Mutation_p.A374L|ITGB1_uc001iwt.3_Missense_Mutation_p.A374L|ITGB1_uc001iwu.1_Missense_Mutation_p.A374L	p.A374L	NM_133376	NP_596867	P05556	ITB1_HUMAN			9	1256_1257	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	374			Extracellular (Potential).|VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	DNP	ENST00000396033.2	37	c.1120_1121GC>TT	CCDS7174.1																																																																																				0.327	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		12	52	0	0	0	0	12	52				
FAM13C	220965	broad.mit.edu	37	10	61112119	61112119	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:61112119C>T	ENST00000373868.2	-	3	322	c.235G>A	c.(235-237)Gta>Ata	p.V79I	FAM13C_ENST00000277705.6_Missense_Mutation_p.V79I|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000442566.3_Missense_Mutation_p.V79I|FAM13C_ENST00000435852.2_Missense_Mutation_p.V79I|FAM13C_ENST00000419214.2_Missense_Mutation_p.V79I|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000422313.2_Missense_Mutation_p.V79I	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	79										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCGCAATACGCTGTCCACC	0.607																																						uc001jkn.2		NA																	0				ovary(2)	2						c.(235-237)GTA>ATA		hypothetical protein LOC220965 isoform 1							69.0	68.0	69.0					10																	61112119		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61112119C>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.235G>A	10.37:g.61112119C>T	ENSP00000362975:p.Val79Ile					FAM13C_uc001jko.2_Missense_Mutation_p.V79I|FAM13C_uc010qid.1_5'UTR|FAM13C_uc010qie.1_5'UTR|FAM13C_uc010qif.1_Missense_Mutation_p.V101I|FAM13C_uc001jkp.2_5'UTR	p.V79I	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			4	369	-			79					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.235G>A	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	7.978	0.750490	0.15778	.	.	ENSG00000148541	ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.72	2.82	0.32997	.	1.046050	0.07558	N	0.916649	T	0.49474	0.1559	L	0.47716	1.5	0.09310	N	0.999995	B;B;B	0.31054	0.0;0.306;0.0	B;B;B	0.18871	0.002;0.023;0.001	T	0.33574	-0.9863	10	0.33940	T	0.23	.	4.7941	0.13263	0.1541:0.6165:0.1486:0.0808	.	79;79;79	B7Z2K3;Q8NE31-3;Q8NE31	.;.;FA13C_HUMAN	I	79	ENSP00000362975:V79I;ENSP00000395661:V79I;ENSP00000277705:V79I;ENSP00000391993:V79I;ENSP00000392302:V79I;ENSP00000400241:V79I	ENSP00000277705:V79I	V	-	1	0	FAM13C	60782125	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	0.061000	0.14366	0.337000	0.23665	-0.143000	0.13931	GTA		0.607	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			5	28	0	0	0	0	5	28				
FAM13C	220965	broad.mit.edu	37	10	61112150	61112150	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:61112150C>T	ENST00000373868.2	-	3	291	c.204G>A	c.(202-204)caG>caA	p.Q68Q	FAM13C_ENST00000277705.6_Silent_p.Q68Q|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000442566.3_Silent_p.Q68Q|FAM13C_ENST00000435852.2_Silent_p.Q68Q|FAM13C_ENST00000419214.2_Silent_p.Q68Q|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000422313.2_Silent_p.Q68Q	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	68										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTCTACATTCTGCTGCTGCG	0.562																																						uc001jkn.2		NA																	0				ovary(2)	2						c.(202-204)CAG>CAA		hypothetical protein LOC220965 isoform 1							42.0	45.0	44.0					10																	61112150		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61112150C>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.204G>A	10.37:g.61112150C>T						FAM13C_uc001jko.2_Silent_p.Q68Q|FAM13C_uc010qid.1_5'UTR|FAM13C_uc010qie.1_5'UTR|FAM13C_uc010qif.1_Silent_p.Q90Q|FAM13C_uc001jkp.2_5'UTR	p.Q68Q	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			4	338	-			68					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.204G>A	CCDS7255.1																																																																																				0.562	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			3	19	0	0	0	0	3	19				
VCL	7414	broad.mit.edu	37	10	75856965	75856965	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:75856965C>A	ENST00000211998.4	+	13	1841	c.1747C>A	c.(1747-1749)Cta>Ata	p.L583I	VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.L583I|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	583	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TTTTAAGGATCTAAAAGCTCG	0.438																																						uc001jwd.2		NA																VCL/ALK(4)	0				kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(1747-1749)CTA>ATA		vinculin isoform meta-VCL							124.0	121.0	122.0					10																	75856965		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75856965C>A	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1747C>A	10.37:g.75856965C>A	ENSP00000211998:p.Leu583Ile					VCL_uc009xrr.2_Missense_Mutation_p.L332I|VCL_uc010qky.1_Missense_Mutation_p.L490I|VCL_uc001jwe.2_Missense_Mutation_p.L583I|VCL_uc010qkz.1_Intron	p.L583I	NM_014000	NP_054706	P18206	VINC_HUMAN			13	1841	+	Prostate(51;0.0112)		583			N-terminal globular head.|3.|3 X 112 AA tandem repeats.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.1747C>A	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575849	0.86645	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	D;D;D	0.88664	-2.41;-2.41;-2.41	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.94092	0.8106	M	0.65498	2.005	0.80722	D	1	D;D;D	0.61697	0.975;0.99;0.979	D;D;D	0.79784	0.989;0.993;0.982	D	0.94153	0.7407	10	0.87932	D	0	.	19.8192	0.96586	0.0:1.0:0.0:0.0	.	510;583;583	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	I	583;583;490;510;255	ENSP00000361841:L583I;ENSP00000211998:L583I;ENSP00000415489:L255I	ENSP00000211998:L583I	L	+	1	2	VCL	75526971	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.001000	0.49488	2.751000	0.94390	0.644000	0.83932	CTA		0.438	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		16	94	1	0	1.52e-12	1.71e-12	16	94				
VCL	7414	broad.mit.edu	37	10	75857067	75857067	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:75857067C>T	ENST00000211998.4	+	13	1943	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.P617S|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	617	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P617S(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CACGGCGCCTCCTGATGCGCC	0.502																																						uc001jwd.2		NA																VCL/ALK(4)	1	Substitution - Missense(1)		ovary(1)	kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(1849-1851)CCT>TCT		vinculin isoform meta-VCL							94.0	91.0	92.0					10																	75857067		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75857067C>T	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1849C>T	10.37:g.75857067C>T	ENSP00000211998:p.Pro617Ser					VCL_uc009xrr.2_Missense_Mutation_p.P366S|VCL_uc010qky.1_Missense_Mutation_p.P524S|VCL_uc001jwe.2_Missense_Mutation_p.P617S|VCL_uc010qkz.1_Intron	p.P617S	NM_014000	NP_054706	P18206	VINC_HUMAN			13	1943	+	Prostate(51;0.0112)		617			N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.1849C>T	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	C	4.925	0.171879	0.09391	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.36520	1.25;1.25;1.25	5.29	4.37	0.52481	.	0.175329	0.48286	D	0.000183	T	0.19087	0.0458	N	0.14661	0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.07868	-1.0750	10	0.23302	T	0.38	.	8.091	0.30801	0.0:0.7788:0.0:0.2212	.	544;617;617	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	S	617;617;524;544;289	ENSP00000361841:P617S;ENSP00000211998:P617S;ENSP00000415489:P289S	ENSP00000211998:P617S	P	+	1	0	VCL	75527073	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	2.938000	0.48987	2.641000	0.89580	0.644000	0.83932	CCT		0.502	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		16	75	0	0	0	0	16	75				
IFIT3	3437	broad.mit.edu	37	10	91099031	91099031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:91099031C>T	ENST00000371818.4	+	2	799	c.619C>T	c.(619-621)Caa>Taa	p.Q207*	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Nonsense_Mutation_p.Q207*	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	207					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TCCTGATAACCAATACGTCAA	0.453																																						uc001kgf.2		NA																	0				central_nervous_system(1)	1						c.(619-621)CAA>TAA		interferon-induced protein with							65.0	72.0	70.0					10																	91099031		2203	4300	6503	SO:0001587	stop_gained	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099031C>T	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.619C>T	10.37:g.91099031C>T	ENSP00000360883:p.Gln207*					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Nonsense_Mutation_p.Q207*	p.Q207*	NM_001549	NP_001540	O14879	IFIT3_HUMAN			2	848	+			207			TPR 5.		Q99634|Q9BSK7	Nonsense_Mutation	SNP	ENST00000371818.4	37	c.619C>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334748	0.41297	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	.	.	.	4.48	4.48	0.54585	.	0.704590	0.13937	N	0.352513	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-1.5092	10.5052	0.44830	0.291:0.709:0.0:0.0	.	.	.	.	X	207;207;28	.	ENSP00000360876:Q207X	Q	+	1	0	IFIT3	91089011	0.023000	0.18921	0.368000	0.25939	0.028000	0.11728	1.247000	0.32815	2.791000	0.96007	0.655000	0.94253	CAA		0.453	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		11	33	0	0	0	0	11	33				
BTRC	8945	broad.mit.edu	37	10	103190136	103190136	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:103190136C>G	ENST00000370187.3	+	2	201	c.83C>G	c.(82-84)tCc>tGc	p.S28C	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.S13C	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGGCTGCTCCAGCCTGGCG	0.537																																						uc001kta.2		NA																	0				ovary(1)	1						c.(82-84)TCC>TGC		beta-transducin repeat containing protein							83.0	78.0	80.0					10																	103190136		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103190136C>G	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.83C>G	10.37:g.103190136C>G	ENSP00000359206:p.Ser28Cys					BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.2_Intron|BTRC_uc001ktc.2_Missense_Mutation_p.S28C	p.S28C	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	2	196	+		Colorectal(252;0.234)	28					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.83C>G	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895274	0.72639	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000370183	T;T	0.69040	-0.36;-0.37	5.72	5.72	0.89469	.	0.163737	0.44483	D	0.000444	T	0.68366	0.2993	N	0.08118	0	0.53005	D	0.999963	P;P	0.46578	0.838;0.88	B;D	0.64237	0.258;0.923	T	0.72924	-0.4144	10	0.51188	T	0.08	-9.6945	20.2406	0.98372	0.0:1.0:0.0:0.0	.	28;28	B7Z3H4;Q9Y297	.;FBW1A_HUMAN	C	28;13;10	ENSP00000359206:S28C;ENSP00000377088:S13C	ENSP00000359202:S10C	S	+	2	0	BTRC	103180126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.631000	0.67812	2.857000	0.98124	0.650000	0.86243	TCC		0.537	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		3	31	0	0	0	0	3	31				
FGF8	2253	broad.mit.edu	37	10	103530279	103530279	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr10:103530279G>A	ENST00000344255.3	-	6	508	c.509C>T	c.(508-510)gCc>gTc	p.A170V	FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000320185.2_Missense_Mutation_p.A181V|FGF8_ENST00000346714.3_Missense_Mutation_p.A141V|FGF8_ENST00000347978.2_Missense_Mutation_p.A152V			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	170					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GCGGGTGAAGGCCATGTACCA	0.632																																						uc001ktp.1		NA																	0					0						c.(508-510)GCC>GTC		fibroblast growth factor 8 isoform E precursor							76.0	60.0	65.0					10																	103530279		2203	4300	6503	SO:0001583	missense	2253				bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr10:103530279G>A	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.509C>T	10.37:g.103530279G>A	ENSP00000340039:p.Ala170Val					FGF8_uc001ktq.1_Missense_Mutation_p.A181V|FGF8_uc001ktr.1_Missense_Mutation_p.A152V|FGF8_uc001kts.1_Missense_Mutation_p.A141V|FGF8_uc009xwr.1_Missense_Mutation_p.A77V	p.A170V	NM_033164	NP_149354	P55075	FGF8_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	6	679	-		Colorectal(252;0.122)	170					A1A514|Q14915|Q15766	Missense_Mutation	SNP	ENST00000344255.3	37	c.509C>T	CCDS7517.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498069	0.85069	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	3.68	3.68	0.42216	.	0.061412	0.64402	D	0.000004	D	0.93864	0.8037	M	0.93150	3.385	0.80722	D	1	D;D;D;D	0.89917	0.993;0.997;0.997;1.0	P;P;P;D	0.72338	0.863;0.897;0.897;0.977	D	0.95651	0.8707	10	0.87932	D	0	.	15.4236	0.75035	0.0:0.0:1.0:0.0	.	141;152;181;170	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	V	170;181;141;152	ENSP00000340039:A170V;ENSP00000321797:A181V;ENSP00000344306:A141V;ENSP00000321945:A152V	ENSP00000321797:A181V	A	-	2	0	FGF8	103520269	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.263000	0.72521	1.604000	0.50143	0.455000	0.32223	GCC		0.632	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	NM_006119, NM_033165		9	36	0	0	0	0	9	36				
SYT9	143425	broad.mit.edu	37	11	7324466	7324466	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:7324466C>T	ENST00000318881.6	+	2	579	c.342C>T	c.(340-342)gaC>gaT	p.D114D	SYT9_ENST00000396716.2_Silent_p.D82D	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	114					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ACAGTGAGGACTTCCTAGATC	0.577																																						uc001mfe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(340-342)GAC>GAT		synaptotagmin IX							158.0	137.0	144.0					11																	7324466		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7324466C>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.342C>T	11.37:g.7324466C>T						SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.D114D	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	579	+			114			Cytoplasmic (Potential).			Silent	SNP	ENST00000318881.6	37	c.342C>T	CCDS7778.1																																																																																				0.577	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		15	49	0	0	0	0	15	49				
SLC6A5	9152	broad.mit.edu	37	11	20658775	20658775	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:20658775C>T	ENST00000525748.1	+	12	2068	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	599					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAAGTACCTACGCACACACAA	0.483																																						uc001mqd.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1795-1797)CGC>TGC		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						185.0	162.0	170.0					11																	20658775		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20658775C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1795C>T	11.37:g.20658775C>T	ENSP00000434364:p.Arg599Cys					SLC6A5_uc009yic.2_Missense_Mutation_p.R364C	p.R599C	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			12	2068	+			599					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1795C>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718827	0.89205	.	.	ENSG00000165970	ENST00000525748	T	0.76316	-1.01	5.67	5.67	0.87782	.	0.094954	0.64402	D	0.000001	D	0.90027	0.6886	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90981	0.4827	10	0.72032	D	0.01	.	19.7802	0.96413	0.0:1.0:0.0:0.0	.	599	Q9Y345	SC6A5_HUMAN	C	599	ENSP00000434364:R599C	ENSP00000434364:R599C	R	+	1	0	SLC6A5	20615351	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.964000	0.70379	2.675000	0.91044	0.655000	0.94253	CGC		0.483	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		25	51	0	0	0	0	25	51				
LGR4	55366	broad.mit.edu	37	11	27389780	27389780	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:27389780G>A	ENST00000379214.4	-	18	2933	c.2490C>T	c.(2488-2490)atC>atT	p.I830I	LGR4_ENST00000389858.4_Silent_p.I806I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	830					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CTTGGCTACTGATGGAAACTG	0.448																																						uc001mrj.3		NA																	0				ovary(1)	1						c.(2488-2490)ATC>ATT		leucine-rich repeat-containing G protein-coupled							191.0	183.0	186.0					11																	27389780		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27389780G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2490C>T	11.37:g.27389780G>A						LGR4_uc001mrk.3_Silent_p.I806I	p.I830I	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			18	2975	-			830			Cytoplasmic (Potential).		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.2490C>T	CCDS31449.1																																																																																				0.448	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		29	142	0	0	0	0	29	142				
PACSIN3	29763	broad.mit.edu	37	11	47200778	47200778	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:47200778C>T	ENST00000539589.1	-	8	1174	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	ARFGAP2_ENST00000419701.2_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|ARFGAP2_ENST00000319543.6_5'Flank|PACSIN3_ENST00000298838.6_Missense_Mutation_p.E278K	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	278	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						AGATCCTCTTCGTCACTGGCT	0.612																																						uc001ndw.2		NA																	0					0						c.(832-834)GAA>AAA		protein kinase C and casein kinase substrate in							102.0	99.0	100.0					11																	47200778		2201	4298	6499	SO:0001583	missense	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47200778C>T	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.832G>A	11.37:g.47200778C>T	ENSP00000440945:p.Glu278Lys					ARFGAP2_uc001ndt.2_5'Flank|ARFGAP2_uc010rhb.1_5'Flank|ARFGAP2_uc001ndu.2_5'Flank|ARFGAP2_uc010rhc.1_5'Flank|ARFGAP2_uc010rhd.1_5'Flank|ARFGAP2_uc001ndv.1_5'Flank|PACSIN3_uc001ndx.2_Missense_Mutation_p.E278K|PACSIN3_uc001ndy.2_Missense_Mutation_p.E278K|PACSIN3_uc001ndz.2_RNA|PACSIN3_uc001nea.2_RNA	p.E278K	NM_016223	NP_057307	Q9UKS6	PACN3_HUMAN			8	1170	-			278					A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	c.832G>A	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826674	0.50739	.	.	ENSG00000165912	ENST00000298838;ENST00000539589;ENST00000528462	T;T;T	0.38401	1.14;1.14;1.14	5.24	3.22	0.36961	.	0.431896	0.25839	N	0.027979	T	0.26268	0.0641	L	0.39245	1.2	0.35303	D	0.78316	B	0.24092	0.097	B	0.15870	0.014	T	0.27088	-1.0084	10	0.37606	T	0.19	-6.7096	8.8874	0.35411	0.0:0.6052:0.3061:0.0887	.	278	Q9UKS6	PACN3_HUMAN	K	278	ENSP00000298838:E278K;ENSP00000440945:E278K;ENSP00000437252:E278K	ENSP00000298838:E278K	E	-	1	0	PACSIN3	47157354	0.974000	0.33945	0.792000	0.32020	0.957000	0.61999	2.188000	0.42612	1.332000	0.45431	0.655000	0.94253	GAA		0.612	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		51	109	0	0	0	0	51	109				
UBE2L6	9246	broad.mit.edu	37	11	57319916	57319916	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:57319916G>A	ENST00000287156.4	-	4	572	c.377C>T	c.(376-378)gCt>gTt	p.A126V	UBE2L6_ENST00000340573.4_Missense_Mutation_p.A60V	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	126					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						CAGCAGGTCAGCGAGGTCCAT	0.572																																						uc001nkn.1		NA																	0				ovary(1)	1						c.(376-378)GCT>GTT		ubiquitin-conjugating enzyme E2L 6 isoform 1							168.0	162.0	164.0					11																	57319916		2201	4296	6497	SO:0001583	missense	9246				negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	g.chr11:57319916G>A	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.377C>T	11.37:g.57319916G>A	ENSP00000287156:p.Ala126Val					UBE2L6_uc001nko.1_Missense_Mutation_p.A60V	p.A126V	NM_004223	NP_004214	O14933	UB2L6_HUMAN			4	473	-			126					A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Missense_Mutation	SNP	ENST00000287156.4	37	c.377C>T	CCDS7960.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816549	0.90790	.	.	ENSG00000156587	ENST00000340573;ENST00000287156;ENST00000527022	T;T;T	0.48201	0.82;0.82;0.82	5.52	3.52	0.40303	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.168431	0.28630	N	0.014667	T	0.66684	0.2814	H	0.95679	3.705	0.46564	D	0.999101	B	0.34313	0.448	P	0.44477	0.451	T	0.73566	-0.3942	10	0.87932	D	0	.	10.1107	0.42561	0.0768:0.1381:0.7852:0.0	.	126	O14933	UB2L6_HUMAN	V	60;126;60	ENSP00000341980:A60V;ENSP00000287156:A126V;ENSP00000435265:A60V	ENSP00000287156:A126V	A	-	2	0	UBE2L6	57076492	1.000000	0.71417	0.059000	0.19551	0.026000	0.11368	6.347000	0.73004	1.471000	0.48121	0.655000	0.94253	GCT		0.572	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223		36	166	0	0	0	0	36	166				
MYRF	745	broad.mit.edu	37	11	61541579	61541579	+	Missense_Mutation	SNP	C	C	T	rs193921094		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:61541579C>T	ENST00000278836.5	+	8	1352	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Missense_Mutation_p.T46M|MYRF_ENST00000265460.5_Missense_Mutation_p.T410M	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	419					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TACGTCAAGACGCCCGAGGGC	0.587																																						uc001nsc.1		NA																	0				breast(1)	1						c.(1255-1257)ACG>ATG		myelin gene regulatory factor isoform 2							63.0	52.0	56.0					11																	61541579		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61541579C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1256C>T	11.37:g.61541579C>T	ENSP00000278836:p.Thr419Met					C11orf9_uc001nse.1_Missense_Mutation_p.T410M	p.T419M	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			8	1352	+			419			NDT80.		O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.1256C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972524	0.74246	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.50277	1.26;1.27;0.75	4.52	4.52	0.55395	NDT80 DNA-binding domain (2);p53-like transcription factor, DNA-binding (1);	0.056471	0.64402	D	0.000001	T	0.73401	0.3582	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.986	T	0.79538	-0.1762	10	0.87932	D	0	-17.9136	17.7969	0.88575	0.0:1.0:0.0:0.0	.	410;419	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	M	419;410;46	ENSP00000278836:T419M;ENSP00000265460:T410M;ENSP00000333261:T46M	ENSP00000265460:T410M	T	+	2	0	C11orf9	61298155	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.566000	0.67372	2.527000	0.85204	0.462000	0.41574	ACG		0.587	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		5	18	0	0	0	0	5	18				
BACE1	23621	broad.mit.edu	37	11	117161343	117161343	+	Silent	SNP	C	C	T	rs75519595		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:117161343C>T	ENST00000313005.6	-	8	1585	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	BACE1_ENST00000428381.2_Silent_p.T306T|BACE1_ENST00000392937.6_Silent_p.T275T|BACE1_ENST00000528053.1_Silent_p.T341T|BACE1_ENST00000513780.1_Silent_p.T350T|BACE1_ENST00000445823.2_Silent_p.T331T|BACE1_ENST00000510630.1_Silent_p.T250T	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	375					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CGTCTTGGGACGTGGCCACAT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21272	0.0		0.001	False		,,,				2504	0.0					uc001pqz.2		NA																	0				ovary(1)	1						c.(1123-1125)ACG>ACA		beta-site APP-cleaving enzyme 1 isoform A		C	,,,,,	0,4402		0,0,2201	130.0	98.0	109.0		825,750,1125,993,1050,918	-8.2	0.5	11	dbSNP_131	109	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BACE1	NM_001207048.1,NM_001207049.1,NM_012104.4,NM_138971.3,NM_138972.3,NM_138973.3	,,,,,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	275/402,250/377,375/502,331/458,350/477,306/433	117161343	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117161343C>T	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.1125G>A	11.37:g.117161343C>T						BACE1_uc001pqw.2_Silent_p.T350T|BACE1_uc001pqx.2_Silent_p.T306T|BACE1_uc001pqy.2_Silent_p.T331T|BACE1_uc010rxg.1_Silent_p.T250T|BACE1_uc010rxh.1_Silent_p.T275T|BACE1_uc009yzo.1_Missense_Mutation_p.R43H|uc010rxi.1_5'Flank	p.T375T	NM_012104	NP_036236	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	8	1586	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	375			Extracellular (Potential).		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP	ENST00000313005.6	37	c.1125G>A	CCDS8383.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.637	1.138001	0.21123	0.0	1.16E-4	ENSG00000186318	ENST00000292095	.	.	.	5.73	-8.2	0.01045	.	.	.	.	.	T	0.45337	0.1337	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50021	-0.8876	5	0.15066	T	0.55	.	12.4738	0.55801	0.0:0.1218:0.1755:0.7027	.	.	.	.	H	140	.	ENSP00000292095:R140H	R	-	2	0	BACE1	116666553	0.000000	0.05858	0.523000	0.27875	0.974000	0.67602	-2.543000	0.00934	-1.645000	0.01515	-0.782000	0.03352	CGT		0.532	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			8	17	0	0	0	0	8	17				
DDX6	1656	broad.mit.edu	37	11	118630664	118630664	+	Silent	SNP	G	G	A	rs376083867		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:118630664G>A	ENST00000526070.2	-	8	1191	c.831C>T	c.(829-831)tcC>tcT	p.S277S	DDX6_ENST00000264018.4_Silent_p.S277S|DDX6_ENST00000534980.1_Silent_p.S277S	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	277	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGAAAGTAGCGGAATATAGTA	0.383			T	IGH@	B-NHL								G|||	1	0.000199681	0.0008	0.0	5008	,	,		18571	0.0		0.0	False		,,,				2504	0.0					uc001pub.2		NA		Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				ovary(1)	1						c.(829-831)TCC>TCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		G		1,3691		0,1,1845	114.0	107.0	109.0		831	-9.7	0.7	11		109	3,8195		0,3,4096	no	coding-synonymous	DDX6	NM_004397.4		0,4,5941	AA,AG,GG		0.0366,0.0271,0.0336		277/484	118630664	4,11886	1846	4099	5945	SO:0001819	synonymous_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118630664G>A	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.831C>T	11.37:g.118630664G>A						DDX6_uc001pua.2_5'Flank|DDX6_uc001puc.2_Silent_p.S277S	p.S277S	NM_004397	NP_004388	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	8	1192	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	277			Helicase ATP-binding.		Q5D048	Silent	SNP	ENST00000526070.2	37	c.831C>T	CCDS44751.1																																																																																				0.383	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		17	33	0	0	0	0	17	33				
ARHGAP32	9743	broad.mit.edu	37	11	128846491	128846491	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:128846491C>G	ENST00000310343.9	-	19	2118	c.2119G>C	c.(2119-2121)Gag>Cag	p.E707Q	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E633Q|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E358Q|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E358Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	707					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGAGACTCCTCACTTTTAGCT	0.363																																						uc009zcp.2		NA																	0				lung(3)|ovary(2)	5						c.(2119-2121)GAG>CAG		Rho GTPase-activating protein isoform 1							107.0	108.0	108.0					11																	128846491		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128846491C>G	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2119G>C	11.37:g.128846491C>G	ENSP00000310561:p.Glu707Gln					ARHGAP32_uc009zcq.1_Missense_Mutation_p.E667Q|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.E358Q	p.E707Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			19	2119	-			707					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2119G>C	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210996	0.95069	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.66939	2.045	0.58432	D	0.999999	P;P	0.52577	0.778;0.954	P;B	0.49451	0.611;0.393	T	0.17319	-1.0373	10	0.59425	D	0.04	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	641;707	Q86T64;A7KAX9	.;RHG32_HUMAN	Q	707;358;633;641;358	ENSP00000310561:E707Q;ENSP00000376425:E358Q;ENSP00000432468:E633Q;ENSP00000432862:E358Q	ENSP00000310561:E707Q	E	-	1	0	ARHGAP32	128351701	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.277000	0.78572	2.885000	0.99019	0.655000	0.94253	GAG		0.363	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		17	77	0	0	0	0	17	77				
ACAD8	27034	broad.mit.edu	37	11	134128424	134128424	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:134128424G>A	ENST00000281182.4	+	4	502	c.396G>A	c.(394-396)atG>atA	p.M132I	ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Missense_Mutation_p.M55I|ACAD8_ENST00000543332.1_Missense_Mutation_p.M34I|ACAD8_ENST00000524547.1_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	132					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GTGCCTGGATGATTGATAGCT	0.433																																					GBM(65;238 1125 33403 41853 48889)	uc001qhk.2		NA																	0					0						c.(394-396)ATG>ATA		acyl-Coenzyme A dehydrogenase family, member 8							116.0	86.0	96.0					11																	134128424		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134128424G>A	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.396G>A	11.37:g.134128424G>A	ENSP00000281182:p.Met132Ile					ACAD8_uc009zdc.2_Missense_Mutation_p.M34I|ACAD8_uc010sco.1_Missense_Mutation_p.M34I|ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.M55I|ACAD8_uc001qhl.2_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.M94I|ACAD8_uc009zde.1_Missense_Mutation_p.M5I	p.M132I	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	4	457	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	132					B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.396G>A	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491227	0.44249	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000537915	D;D;D	0.99685	-6.4;-6.4;-5.17	5.62	1.55	0.23275	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.112392	0.85682	N	0.000000	D	0.98226	0.9413	L	0.48174	1.505	0.58432	D	0.999998	B;B;B;B;B	0.22746	0.029;0.002;0.074;0.02;0.001	B;B;B;B;B	0.23150	0.044;0.007;0.036;0.035;0.01	D	0.96127	0.9089	10	0.21014	T	0.42	.	7.1755	0.25742	0.0634:0.2317:0.5847:0.1202	.	73;55;34;34;132	B7Z767;B7Z5W4;B7Z9L5;B7Z7F1;Q9UKU7	.;.;.;.;ACAD8_HUMAN	I	132;55;34;94	ENSP00000281182:M132I;ENSP00000443763:M55I;ENSP00000438302:M34I	ENSP00000281182:M132I	M	+	3	0	ACAD8	133633634	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.382000	0.44345	0.035000	0.15519	-0.150000	0.13652	ATG		0.433	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		10	18	0	0	0	0	10	18				
CD163L1	283316	broad.mit.edu	37	12	7526210	7526210	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:7526210C>T	ENST00000313599.3	-	14	3493	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K	CD163L1_ENST00000396630.1_Missense_Mutation_p.E1146K|CD163L1_ENST00000416109.2_Missense_Mutation_p.E1156K|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1146	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTTTCAGTTTCACTGTAGAGC	0.458																																						uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3436-3438)GAA>AAA		scavenger receptor cysteine-rich type 1							112.0	121.0	118.0					12																	7526210		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7526210C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3436G>A	12.37:g.7526210C>T	ENSP00000315945:p.Glu1146Lys					CD163L1_uc010sge.1_Missense_Mutation_p.E1156K	p.E1146K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			14	3462	-			1146			SRCR 11.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3436G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026035	0.54683	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.01438	4.91;4.91;4.89	2.28	2.28	0.28536	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.534144	0.13789	U	0.362682	T	0.02571	0.0078	L	0.56124	1.755	0.09310	N	1	D;D	0.55605	0.972;0.972	P;P	0.53360	0.724;0.724	T	0.16837	-1.0389	10	0.06365	T	0.9	.	8.1253	0.30995	0.0:1.0:0.0:0.0	.	1156;1146	E7EVK4;Q9NR16	.;C163B_HUMAN	K	1146;1156;1146	ENSP00000315945:E1146K;ENSP00000393474:E1156K;ENSP00000379871:E1146K	ENSP00000315945:E1146K	E	-	1	0	CD163L1	7417477	0.002000	0.14202	0.009000	0.14445	0.650000	0.38633	1.114000	0.31196	1.583000	0.49898	0.557000	0.71058	GAA		0.458	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		26	179	0	0	0	0	26	179				
SLCO1B3	28234	broad.mit.edu	37	12	21015468	21015468	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:21015468G>C	ENST00000381545.3	+	7	823	c.604G>C	c.(604-606)Gaa>Caa	p.E202Q	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E202Q|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E202Q|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.E202Q|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	202					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTTTGCAAAAGAAGGACATTC	0.353																																						uc001rek.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(604-606)GAA>CAA		solute carrier organic anion transporter family,							120.0	117.0	118.0					12																	21015468		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21015468G>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.604G>C	12.37:g.21015468G>C	ENSP00000370956:p.Glu202Gln					SLCO1B3_uc001rel.2_Missense_Mutation_p.E202Q|SLCO1B3_uc010sil.1_Missense_Mutation_p.E202Q|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.E27Q	p.E202Q	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			6	730	+	Esophageal squamous(101;0.149)		202			Cytoplasmic (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.604G>C	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584794	0.65992	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;1.11;0.26	3.9	3.9	0.45041	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.372870	0.29558	N	0.011805	T	0.71542	0.3352	M	0.70275	2.135	0.80722	D	1	D;P;P	0.67145	0.996;0.645;0.645	D;P;P	0.68765	0.96;0.643;0.643	T	0.73962	-0.3817	10	0.54805	T	0.06	.	11.8852	0.52598	0.0:0.1766:0.8234:0.0	.	202;202;202	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	Q	202;202;202;202;26;202	ENSP00000442000:E202Q;ENSP00000261196:E202Q;ENSP00000370956:E202Q;ENSP00000451758:E202Q;ENSP00000443225:E26Q;ENSP00000441269:E202Q	ENSP00000441269:E202Q	E	+	1	0	SLCO1B3;RP11-545J16.1	20906735	0.914000	0.31030	0.997000	0.53966	0.822000	0.46500	2.154000	0.42291	1.732000	0.51606	0.460000	0.39030	GAA		0.353	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		8	42	0	0	0	0	8	42				
CCDC91	55297	broad.mit.edu	37	12	28458663	28458663	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:28458663C>G	ENST00000545336.1	+	7	610	c.191C>G	c.(190-192)tCt>tGt	p.S64C	CCDC91_ENST00000306172.5_Missense_Mutation_p.S34C|CCDC91_ENST00000381259.1_Missense_Mutation_p.S64C|CCDC91_ENST00000539107.1_Missense_Mutation_p.S64C|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.S64C			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	64					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TGCCTCTCTTCTGATGCCATT	0.393																																						uc001riq.2		NA																	0				central_nervous_system(1)	1						c.(190-192)TCT>TGT		GGA binding partner							216.0	197.0	204.0					12																	28458663		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458663C>G	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.191C>G	12.37:g.28458663C>G	ENSP00000438040:p.Ser64Cys					CCDC91_uc001rio.2_Missense_Mutation_p.S34C|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.S64C|CCDC91_uc001rir.2_5'UTR|CCDC91_uc009zjl.2_5'Flank	p.S64C	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN			3	207	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		64					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.191C>G	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090384	0.55968	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.46819	0.91;0.97;0.94;0.97;0.94;0.91;0.86	4.66	4.66	0.58398	.	1.200150	0.05914	N	0.632180	T	0.39253	0.1071	N	0.12182	0.205	0.09310	N	0.999996	B;P	0.35872	0.003;0.525	B;B	0.39617	0.007;0.305	T	0.42682	-0.9437	10	0.72032	D	0.01	0.0595	13.2225	0.59896	0.0:1.0:0.0:0.0	.	64;34	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	C	64;64;64;64;64;64;64;64;34	ENSP00000440513:S64C;ENSP00000445660:S64C;ENSP00000438040:S64C;ENSP00000442544:S64C;ENSP00000370658:S64C;ENSP00000370655:S64C;ENSP00000305075:S34C	ENSP00000305075:S34C	S	+	2	0	CCDC91	28349930	0.976000	0.34144	0.233000	0.24025	0.736000	0.42039	3.709000	0.54853	2.578000	0.87016	0.591000	0.81541	TCT		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		34	136	0	0	0	0	34	136				
TMTC1	83857	broad.mit.edu	37	12	29920863	29920863	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:29920863G>C	ENST00000539277.1	-	2	506	c.448C>G	c.(448-450)Ctt>Gtt	p.L150V	TMTC1_ENST00000381224.2_Missense_Mutation_p.L42V|TMTC1_ENST00000256062.5_Missense_Mutation_p.L42V|TMTC1_ENST00000552618.1_Missense_Mutation_p.L150V|TMTC1_ENST00000551659.1_Missense_Mutation_p.L150V	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	150						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACAGCAAAAAGCAATGCCGTT	0.363																																						uc001rjb.2		NA																	0					0						c.(124-126)CTT>GTT		transmembrane and tetratricopeptide repeat							137.0	115.0	123.0					12																	29920863		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29920863G>C		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.448C>G	12.37:g.29920863G>C	ENSP00000442046:p.Leu150Val					TMTC1_uc001rjc.1_Missense_Mutation_p.L42V	p.L42V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			2	598	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		150					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.124C>G	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252361	0.22880	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;D;D;D;T	0.93488	-1.29;-3.23;-3.23;-3.23;0.53	5.51	4.53	0.55603	.	0.220622	0.39687	N	0.001286	D	0.90906	0.7142	M	0.77616	2.38	0.27909	N	0.938693	B;P	0.37141	0.427;0.584	B;B	0.33799	0.101;0.17	D	0.86300	0.1679	9	.	.	.	-13.868	7.8286	0.29330	0.0901:0.0:0.7361:0.1738	.	42;150	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	V	42;150;150;150;42	ENSP00000256062:L42V;ENSP00000448112:L150V;ENSP00000449043:L150V;ENSP00000442046:L150V;ENSP00000370622:L42V	.	L	-	1	0	TMTC1	29812130	1.000000	0.71417	0.260000	0.24451	0.391000	0.30476	3.779000	0.55379	2.582000	0.87167	0.655000	0.94253	CTT		0.363	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		11	36	0	0	0	0	11	36				
DGKA	1606	broad.mit.edu	37	12	56334131	56334131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:56334131G>T	ENST00000331886.5	+	11	1286	c.832G>T	c.(832-834)Gag>Tag	p.E278*	DGKA_ENST00000551156.1_Nonsense_Mutation_p.E278*|DGKA_ENST00000394147.1_Nonsense_Mutation_p.E278*|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	278					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AGGAGGCTGTGAGTCCGGGCG	0.597											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sij.2		NA																	0				ovary(3)|pancreas(1)	4						c.(832-834)GAG>TAG		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						118.0	111.0	114.0					12																	56334131		2203	4300	6503	SO:0001587	stop_gained	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56334131G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.832G>T	12.37:g.56334131G>T	ENSP00000328405:p.Glu278*		OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	DGKA_uc009zoc.1_Nonsense_Mutation_p.E278*|DGKA_uc001sih.1_Nonsense_Mutation_p.E166*|DGKA_uc001sii.1_Nonsense_Mutation_p.E136*|DGKA_uc009zod.1_Nonsense_Mutation_p.E197*|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Nonsense_Mutation_p.E278*|DGKA_uc001sil.2_Nonsense_Mutation_p.E278*|DGKA_uc001sim.2_Nonsense_Mutation_p.E278*|DGKA_uc001sin.2_Nonsense_Mutation_p.E278*|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_Nonsense_Mutation_p.E20*	p.E278*	NM_001345	NP_001336	P23743	DGKA_HUMAN			11	1096	+			278			Phorbol-ester/DAG-type 2.		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Nonsense_Mutation	SNP	ENST00000331886.5	37	c.832G>T	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	37	6.330445	0.97480	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	.	.	.	5.21	4.3	0.51218	.	0.493477	0.22431	N	0.060146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	14.7741	0.69703	0.0:0.1509:0.8491:0.0	.	.	.	.	X	278;197;278;278	.	ENSP00000328405:E278X	E	+	1	0	DGKA	54620398	1.000000	0.71417	0.928000	0.36995	0.760000	0.43138	4.868000	0.63021	1.525000	0.49052	0.655000	0.94253	GAG		0.597	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			19	89	1	0	1.56e-12	1.75e-12	19	89				
ERBB3	2065	broad.mit.edu	37	12	56486845	56486845	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:56486845G>C	ENST00000267101.3	+	11	1699	c.1259G>C	c.(1258-1260)gGc>gCc	p.G420A	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.G361A	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	420					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCATTGGAGGCAGAAGCCTC	0.468																																						uc001sjh.2		NA																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(1258-1260)GGC>GCC		erbB-3 isoform 1 precursor							61.0	61.0	61.0					12																	56486845		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56486845G>C	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1259G>C	12.37:g.56486845G>C	ENSP00000267101:p.Gly420Ala					ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.G361A|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_5'Flank	p.G420A	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		11	1452	+			420			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.1259G>C	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880206	0.91740	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.55052	0.54;0.54	5.06	5.06	0.68205	EGF receptor, L domain (1);	0.000000	0.64402	D	0.000003	T	0.80042	0.4551	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85382	0.1120	10	0.87932	D	0	.	17.3497	0.87320	0.0:0.0:1.0:0.0	.	420	P21860	ERBB3_HUMAN	A	420;361	ENSP00000267101:G420A;ENSP00000408340:G361A	ENSP00000267101:G420A	G	+	2	0	ERBB3	54773112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.256000	0.95535	2.638000	0.89438	0.655000	0.94253	GGC		0.468	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			7	24	0	0	0	0	7	24				
FGD6	55785	broad.mit.edu	37	12	95501371	95501371	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:95501371G>C	ENST00000343958.4	-	12	3524	c.3301C>G	c.(3301-3303)Cgg>Ggg	p.R1101G	FGD6_ENST00000549499.1_Missense_Mutation_p.R1101G|FGD6_ENST00000546711.1_Missense_Mutation_p.R1101G	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1101	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCACTTTCCGAGACAGCTTC	0.418																																						uc001tdp.3		NA																	0				ovary(2)|breast(1)	3						c.(3301-3303)CGG>GGG		FYVE, RhoGEF and PH domain containing 6							138.0	120.0	126.0					12																	95501371		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95501371G>C	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3301C>G	12.37:g.95501371G>C	ENSP00000344446:p.Arg1101Gly					FGD6_uc009zsx.2_Missense_Mutation_p.R234G|FGD6_uc001tdq.1_Missense_Mutation_p.R137G	p.R1101G	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			12	3525	-			1101			PH 1.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.3301C>G	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873051	0.33069	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000551521;ENST00000549499	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	6.06	6.06	0.98353	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.43579	D	0.000547	T	0.76933	0.4057	N	0.20881	0.62	0.51767	D	0.999932	P;D	0.89917	0.929;1.0	P;D	0.97110	0.773;1.0	T	0.73861	-0.3849	10	0.30078	T	0.28	-15.7972	13.9592	0.64168	0.0:0.0:0.7352:0.2648	.	1101;1101	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	G	1101;1101;97;1101	ENSP00000344446:R1101G;ENSP00000450342:R1101G;ENSP00000450240:R97G;ENSP00000449005:R1101G	ENSP00000344446:R1101G	R	-	1	2	FGD6	94025502	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	4.456000	0.60081	2.880000	0.98712	0.650000	0.86243	CGG		0.418	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		9	37	0	0	0	0	9	37				
RIC8B	55188	broad.mit.edu	37	12	107236437	107236437	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:107236437G>C	ENST00000392839.2	+	5	1013	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	RIC8B_ENST00000355478.2_Missense_Mutation_p.E263Q|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392837.4_Missense_Mutation_p.E303Q	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	303					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GTTAACCCATGAAGAAACAGC	0.363																																						uc001tlx.2		NA																	0				ovary(1)	1						c.(907-909)GAA>CAA		resistance to inhibitors of cholinesterase 8							114.0	114.0	114.0					12																	107236437		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107236437G>C	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.907G>C	12.37:g.107236437G>C	ENSP00000376583:p.Glu303Gln					RIC8B_uc001tlw.2_Missense_Mutation_p.E303Q|RIC8B_uc001tly.2_Missense_Mutation_p.E263Q|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	p.E303Q	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			5	1032	+			303					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.907G>C	CCDS9109.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.39|14.39	2.520455|2.520455	0.44866|0.44866	.|.	.|.	ENSG00000111785|ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478|ENST00000548914	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Armadillo-type fold (1);|.	0.107948|.	0.41194|.	D|.	0.000927|.	T|T	0.39436|0.39436	0.1078|0.1078	N|N	0.04959|0.04959	-0.14|-0.14	0.80722|0.80722	D|D	1|1	B;P;P|.	0.36354|.	0.275;0.49;0.549|.	B;B;B|.	0.37198|.	0.101;0.243;0.224|.	T|T	0.31779|0.31779	-0.9931|-0.9931	9|5	0.16420|.	T|.	0.52|.	-8.1468|-8.1468	17.3741|17.3741	0.87386|0.87386	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	263;303;303|.	Q9NVN3-3;Q9NVN3;B7WPL0|.	.;RIC8B_HUMAN;.|.	Q|I	303;303;263|127	.|.	ENSP00000347662:E263Q|.	E|M	+|+	1|3	0|0	RIC8B|RIC8B	105760567|105760567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.431000|6.431000	0.73395|0.73395	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.363	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		8	39	0	0	0	0	8	39				
NCOR2	9612	broad.mit.edu	37	12	124839420	124839420	+	Silent	SNP	G	G	A	rs373530484		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:124839420G>A	ENST00000405201.1	-	25	3447	c.3447C>T	c.(3445-3447)acC>acT	p.T1149T	NCOR2_ENST00000356219.3_Silent_p.T1156T|NCOR2_ENST00000397355.1_Silent_p.T1140T|NCOR2_ENST00000404621.1_Silent_p.T1139T|NCOR2_ENST00000429285.2_Silent_p.T1139T|NCOR2_ENST00000404121.2_Silent_p.T710T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1157					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGCCCCATGGTGACAGGGC	0.672																																						uc010tba.1		NA																	0				skin(3)|ovary(1)	4						c.(3469-3471)ACC>ACT		nuclear receptor co-repressor 2 isoform 2		G	,,	0,3916		0,0,1958	45.0	52.0	49.0		3417,3417,3447	4.5	1.0	12		49	1,8281		0,1,4140	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	,,	0,1,6098	AA,AG,GG		0.0121,0.0,0.0082	,,	1139/2459,1139/2505,1149/2515	124839420	1,12197	1958	4141	6099	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124839420G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3447C>T	12.37:g.124839420G>A						NCOR2_uc010tay.1_Silent_p.T1156T|NCOR2_uc010taz.1_Silent_p.T1140T|NCOR2_uc010tbb.1_Silent_p.T1149T|NCOR2_uc010tbc.1_Silent_p.T1139T|NCOR2_uc001ugj.1_Silent_p.T1157T	p.T1157T	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	25	3588	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1157					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.3471C>T	CCDS41858.2																																																																																				0.672	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		11	48	0	0	0	0	11	48				
TMEM132B	114795	broad.mit.edu	37	12	126139056	126139056	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:126139056C>T	ENST00000299308.3	+	9	3045	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P525S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1013						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TAAAAATGAACCTATGAATTC	0.463																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(3037-3039)CCT>TCT		transmembrane protein 132B							51.0	50.0	50.0					12																	126139056		1861	4092	5953	SO:0001583	missense	114795					integral to membrane		g.chr12:126139056C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.3037C>T	12.37:g.126139056C>T	ENSP00000299308:p.Pro1013Ser					TMEM132B_uc001uhf.1_Missense_Mutation_p.P525S	p.P1013S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	3045	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1013			Cytoplasmic (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.3037C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	9.964	1.223682	0.22457	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.10860	3.64;2.83	5.81	3.98	0.46160	.	0.284859	0.30723	N	0.009007	T	0.14184	0.0343	M	0.61703	1.905	0.58432	D	0.999999	B	0.22800	0.075	B	0.19946	0.027	T	0.02064	-1.1220	10	0.54805	T	0.06	.	13.2401	0.59992	0.1275:0.7503:0.1223:0.0	.	1013	Q14DG7	T132B_HUMAN	S	1013;525	ENSP00000299308:P1013S;ENSP00000440436:P525S	ENSP00000299308:P1013S	P	+	1	0	TMEM132B	124705009	0.960000	0.32886	0.016000	0.15963	0.726000	0.41606	1.256000	0.32921	0.784000	0.33661	0.655000	0.94253	CCT		0.463	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		5	26	0	0	0	0	5	26				
TMEM132D	121256	broad.mit.edu	37	12	130185047	130185047	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:130185047G>A	ENST00000422113.2	-	2	602	c.276C>T	c.(274-276)gtC>gtT	p.V92V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	92					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGCATTGAGGACAGGCAGCC	0.502																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(274-276)GTC>GTT		transmembrane protein 132D precursor							68.0	66.0	67.0					12																	130185047		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185047G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.276C>T	12.37:g.130185047G>A							p.V92V	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	604	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	92			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.276C>T	CCDS9266.1																																																																																				0.502	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		7	27	0	0	0	0	7	27				
RASL11A	387496	broad.mit.edu	37	13	27845676	27845676	+	Splice_Site	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:27845676A>G	ENST00000241463.4	+	2	798	c.180A>G	c.(178-180)acA>acG	p.T60T		NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		AACCGAATACAGGTGAGAATA	0.418											OREG0022312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001urd.1		NA																	0				breast(1)	1						c.(178-180)ACA>ACG		RAS-like, family 11, member A							147.0	141.0	143.0					13																	27845676		2203	4300	6503	SO:0001630	splice_region_variant	387496				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity	g.chr13:27845676A>G	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.181+1A>G	13.37:g.27845676A>G			OREG0022312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	797		p.T60T	NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)	2	798	+		Lung SC(185;0.0161)	60			Small GTPase-like.			Silent	SNP	ENST00000241463.4	37	c.180A>G	CCDS9321.1																																																																																				0.418	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827	Silent	10	110	0	0	0	0	10	110				
N4BP2L1	90634	broad.mit.edu	37	13	32977300	32977300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:32977300G>A	ENST00000380133.2	-	5	561	c.511C>T	c.(511-513)Cga>Tga	p.R171*	N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000530622.2_Nonsense_Mutation_p.R65*|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.P168L|N4BP2L1_ENST00000380130.2_Nonsense_Mutation_p.R171*			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	171										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TCTTTCATTCGGTGGATTTTT	0.363																																						uc001uuc.2		NA																	0				ovary(1)	1						c.(511-513)CGA>TGA		NEDD4 binding protein 2-like 1 isoform 1							211.0	192.0	198.0					13																	32977300		2203	4300	6503	SO:0001587	stop_gained	90634				cell killing		ATP binding	g.chr13:32977300G>A	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.511C>T	13.37:g.32977300G>A	ENSP00000369476:p.Arg171*					N4BP2L1_uc001uud.2_Missense_Mutation_p.P168L|N4BP2L1_uc010tdy.1_Nonsense_Mutation_p.R171*	p.R171*	NM_052818	NP_438169	Q5TBK1	N42L1_HUMAN		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)	5	607	-		Lung SC(185;0.0262)	171					A4QN21|Q5TBK0	Nonsense_Mutation	SNP	ENST00000380133.2	37	c.511C>T	CCDS9345.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.925726|5.925726	0.97110|0.97110	.|.	.|.	ENSG00000139597|ENSG00000139597	ENST00000380139|ENST00000380130;ENST00000530622;ENST00000380133	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.253160	.|0.26492	.|N	.|0.024065	T|.	0.42539|.	0.1207|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.31680|.	0.335|.	B|.	0.22152|.	0.038|.	T|.	0.28776|.	-1.0033|.	7|.	0.72032|0.02654	D|T	0.01|1	.|.	14.9589|14.9589	0.71141|0.71141	0.0:0.0:0.8572:0.1428|0.0:0.0:0.8572:0.1428	.|.	168|.	Q5TBK1-2|.	.|.	L|X	168|171;65;171	.|.	ENSP00000369484:P168L|ENSP00000369473:R171X	P|R	-|-	2|1	0|2	N4BP2L1|N4BP2L1	31875300|31875300	0.985000|0.985000	0.35326|0.35326	0.996000|0.996000	0.52242|0.52242	0.987000|0.987000	0.75469|0.75469	4.952000|4.952000	0.63618|0.63618	2.847000|2.847000	0.97988|0.97988	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.363	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818		18	65	0	0	0	0	18	65				
CCNA1	8900	broad.mit.edu	37	13	37007189	37007189	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:37007189A>G	ENST00000255465.4	+	2	392	c.128A>G	c.(127-129)gAa>gGa	p.E43G	CCNA1_ENST00000449823.1_5'UTR|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.E42G|CCNA1_ENST00000440264.1_5'UTR			P78396	CCNA1_HUMAN	cyclin A1	43				EAMHC -> SS (in Ref. 2; AAV38384). {ECO:0000305}.	G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTGGAGTCTGAAGCAATGCAC	0.587																																						uc001uvr.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(127-129)GAA>GGA		cyclin A1 isoform a							113.0	115.0	114.0					13																	37007189		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37007189A>G	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.128A>G	13.37:g.37007189A>G	ENSP00000255465:p.Glu43Gly					CCNA1_uc010teo.1_5'UTR|CCNA1_uc010abq.2_5'UTR|CCNA1_uc010abp.2_5'UTR|CCNA1_uc001uvs.3_Missense_Mutation_p.E42G|CCNA1_uc010abr.2_RNA	p.E43G	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	2	478	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	43	EAMHC -> SS (in Ref. 2; AAV38384).				B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.128A>G	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658585	0.47467	.	.	ENSG00000133101	ENST00000418263;ENST00000255465	T;T	0.16743	2.32;2.32	4.63	4.63	0.57726	.	0.686253	0.12739	N	0.443148	T	0.17195	0.0413	L	0.51422	1.61	0.58432	D	0.999999	P;P	0.40731	0.728;0.608	B;B	0.35770	0.21;0.104	T	0.03493	-1.1031	10	0.51188	T	0.08	.	11.8761	0.52548	1.0:0.0:0.0:0.0	.	42;43	P78396-2;P78396	.;CCNA1_HUMAN	G	42;43	ENSP00000396479:E42G;ENSP00000255465:E43G	ENSP00000255465:E43G	E	+	2	0	CCNA1	35905189	0.307000	0.24500	0.024000	0.17045	0.030000	0.12068	2.602000	0.46257	1.841000	0.53522	0.454000	0.30748	GAA		0.587	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		21	87	0	0	0	0	21	87				
LMO7	4008	broad.mit.edu	37	13	76287355	76287355	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:76287355G>T	ENST00000341547.4	+	3	1523	c.263G>T	c.(262-264)cGa>cTa	p.R88L	LMO7_ENST00000357063.3_Missense_Mutation_p.R88L|LMO7_ENST00000377534.3_Missense_Mutation_p.R88L|RP11-29G8.3_ENST00000563635.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	88	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGATTTTCGAGCCTCTCTA	0.343																																						uc010thv.1		NA																	0				large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(262-264)CGA>CTA		LIM domain only 7 isoform 1							51.0	55.0	53.0					13																	76287355		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76287355G>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.263G>T	13.37:g.76287355G>T	ENSP00000342112:p.Arg88Leu					LMO7_uc001vjt.1_Missense_Mutation_p.R36L	p.R88L	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	3	1523	+		Breast(118;0.0992)	88			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.263G>T	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458634	0.84317	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000008	T	0.63271	0.2497	L	0.33668	1.02	0.46774	D	0.999191	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.65043	-0.6264	10	0.87932	D	0	.	15.4504	0.75268	0.0:0.0:1.0:0.0	.	88;36	Q8WWI1-3;F8J2B5	.;.	L	88;88;88;36	ENSP00000342112:R88L;ENSP00000349571:R88L;ENSP00000366757:R88L;ENSP00000366719:R36L	ENSP00000342112:R88L	R	+	2	0	LMO7	75185356	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.040000	0.70980	2.793000	0.96121	0.561000	0.74099	CGA		0.343	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		4	31	1	0	2.56e-06	2.76e-06	4	31				
MYO16	23026	broad.mit.edu	37	13	109496715	109496715	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:109496715C>T	ENST00000357550.2	+	9	1097	c.1056C>T	c.(1054-1056)gcC>gcT	p.A352A	MYO16_ENST00000251041.5_Silent_p.A352A|MYO16_ENST00000356711.2_Silent_p.A352A	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACCAATTGCCAAGCAAGACA	0.378																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(1054-1056)GCC>GCT		myosin heavy chain Myr 8							91.0	86.0	88.0					13																	109496715		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109496715C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1056C>T	13.37:g.109496715C>T						MYO16_uc010agk.1_Silent_p.A374A|MYO16_uc001vqu.1_Silent_p.A152A	p.A352A	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		10	1182	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		352						Silent	SNP	ENST00000357550.2	37	c.1056C>T	CCDS32008.1																																																																																				0.378	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		6	42	0	0	0	0	6	42				
DHRS2	10202	broad.mit.edu	37	14	24108117	24108117	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:24108117C>T	ENST00000250383.6	+	2	520	c.44C>T	c.(43-45)cCc>cTc	p.P15L	DHRS2_ENST00000344777.7_Missense_Mutation_p.P15L|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	15					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		TGGTTTCATCCCTGTGCTAGG	0.582																																						uc001wkt.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(43-45)CCC>CTC		dehydrogenase/reductase member 2 isoform 1							104.0	103.0	103.0					14																	24108117		2203	4300	6503	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108117C>T		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.44C>T	14.37:g.24108117C>T	ENSP00000250383:p.Pro15Leu					DHRS2_uc010aku.1_Missense_Mutation_p.P15L|DHRS2_uc001wku.3_Missense_Mutation_p.P15L|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.P15L	p.P15L	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	2	491	+			Error:Variant_position_missing_in_Q13268_after_alignment					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.44C>T	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	10.18	1.279859	0.23392	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;D	0.81579	-1.47;-1.42;-1.51	5.25	-2.42	0.06542	.	1.269030	0.05364	N	0.534299	T	0.60779	0.2295	N	0.19112	0.55	0.09310	N	1	B;B	0.22800	0.075;0.001	B;B	0.24701	0.055;0.001	T	0.42344	-0.9457	10	0.11485	T	0.65	.	1.1581	0.01800	0.1292:0.3139:0.2463:0.3106	.	15;15	C9JZP6;D3DS54	.;.	L	15	ENSP00000401213:P15L;ENSP00000250383:P15L;ENSP00000344674:P15L	ENSP00000250383:P15L	P	+	2	0	DHRS2	23177957	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.105000	0.10907	-0.726000	0.04895	-0.251000	0.11542	CCC		0.582	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		43	74	0	0	0	0	43	74				
HECTD1	25831	broad.mit.edu	37	14	31588931	31588931	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:31588931C>G	ENST00000399332.1	-	29	5868	c.5380G>C	c.(5380-5382)Gaa>Caa	p.E1794Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1794Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1794					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGTGGTATTTCTAGATCAGTT	0.378																																						uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(5380-5382)GAA>CAA		HECT domain containing 1							108.0	100.0	103.0					14																	31588931		1851	4090	5941	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31588931C>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5380G>C	14.37:g.31588931C>G	ENSP00000382269:p.Glu1794Gln					HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.E1262Q	p.E1794Q	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	29	5869	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1794					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5380G>C	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.348929|5.348929	0.95807|0.95807	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957|ENST00000554882	T;T;T|.	0.10192|.	2.9;2.9;2.9|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|.	0.74891|.	0.3776|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.57899|.	0.981;0.981|.	D;D|.	0.67900|.	0.954;0.932|.	T|.	0.70680|.	-0.4805|.	10|.	0.72032|.	D|.	0.01|.	-16.2672|-16.2672	20.2786|20.2786	0.98501|0.98501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1794;1794|.	D3DS86;Q9ULT8|.	.;HECD1_HUMAN|.	Q|Y	1794;1796;1794;1221|159	ENSP00000450697:E1794Q;ENSP00000382269:E1794Q;ENSP00000451860:E1221Q|.	ENSP00000261312:E1796Q|.	E|X	-|-	1|3	0|2	HECTD1|HECTD1	30658682|30658682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.728000|7.728000	0.84847|0.84847	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GAA|TAG		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			19	51	0	0	0	0	19	51				
SYNE2	23224	broad.mit.edu	37	14	64560106	64560106	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:64560106G>A	ENST00000344113.4	+	61	12228	c.12016G>A	c.(12016-12018)Gaa>Aaa	p.E4006K	SYNE2_ENST00000357395.3_Missense_Mutation_p.E391K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E640K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4006K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4039K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E391K|MIR548H1_ENST00000408610.1_RNA	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4006					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGAAATAGAAAATTTGAA	0.343																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(12016-12018)GAA>AAA		spectrin repeat containing, nuclear envelope 2							80.0	84.0	83.0					14																	64560106		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64560106G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12016G>A	14.37:g.64560106G>A	ENSP00000341781:p.Glu4006Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.E4006K|SYNE2_uc010apy.2_Missense_Mutation_p.E391K|SYNE2_uc010apx.1_Missense_Mutation_p.E398K	p.E4006K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	61	12246	+			4006			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.12016G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250541	0.59212	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.54071	1.0;4.28;0.99;0.59;4.34;4.28	5.88	4.04	0.47022	.	0.314593	0.27139	N	0.020744	T	0.36580	0.0972	L	0.34521	1.04	0.80722	D	1	B;B;B;P	0.38078	0.035;0.02;0.267;0.617	B;B;B;B	0.33960	0.025;0.012;0.058;0.173	T	0.09185	-1.0686	10	0.31617	T	0.26	.	8.9281	0.35652	0.0793:0.1495:0.7712:0.0	.	391;4040;4006;4006	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	K	4006;391;4006;4039;4039;640;391	ENSP00000350719:E4006K;ENSP00000349969:E391K;ENSP00000341781:E4006K;ENSP00000452570:E4039K;ENSP00000450831:E640K;ENSP00000378249:E391K	ENSP00000261678:E4039K	E	+	1	0	SYNE2	63629859	1.000000	0.71417	0.960000	0.40013	0.984000	0.73092	3.075000	0.50073	0.809000	0.34255	0.585000	0.79938	GAA		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		32	60	0	0	0	0	32	60				
EIF2S1	1965	broad.mit.edu	37	14	67850070	67850070	+	Silent	SNP	G	G	A	rs55950335		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:67850070G>A	ENST00000256383.4	+	8	1322	c.861G>A	c.(859-861)gcG>gcA	p.A287A	EIF2S1_ENST00000466499.2_Silent_p.A287A	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	287					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		CTGAACTTGCGAGGCAGATGG	0.398													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17440	0.0		0.0	False		,,,				2504	0.0					uc001xjg.2		NA																	0				ovary(1)	1						c.(859-861)GCG>GCA		eukaryotic translation initiation factor 2,		A		1,4405	825.6+/-416.5	0,1,2202	86.0	77.0	80.0		861	-3.7	0.9	14	dbSNP_129	80	0,8600		0,0,4300	no	coding-synonymous	EIF2S1	NM_004094.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		287/316	67850070	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1965					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity	g.chr14:67850070G>A	J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.861G>A	14.37:g.67850070G>A							p.A287A	NM_004094	NP_004085	P05198	IF2A_HUMAN		all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)	8	1002	+			287						Silent	SNP	ENST00000256383.4	37	c.861G>A	CCDS9781.1																																																																																				0.398	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094		4	35	0	0	0	0	4	35				
AHSA1	10598	broad.mit.edu	37	14	77930945	77930945	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:77930945C>A	ENST00000216479.3	+	5	637	c.477C>A	c.(475-477)ttC>ttA	p.F159L	AHSA1_ENST00000535854.2_Missense_Mutation_p.F159L|AHSA1_ENST00000555457.1_Intron|SNORA46_ENST00000391069.1_RNA	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	159					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTTCAGAGTTCACCCAGGGCA	0.458																																						uc001xtw.2		NA																	0					0						c.(475-477)TTC>TTA		activator of heat shock 90kDa protein ATPase							76.0	75.0	75.0					14																	77930945		2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77930945C>A	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.477C>A	14.37:g.77930945C>A	ENSP00000216479:p.Phe159Leu					AHSA1_uc010tvk.1_Missense_Mutation_p.F159L	p.F159L	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	5	637	+			159					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.477C>A	CCDS9863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.955543|3.955543	0.73902|0.73902	.|.	.|.	ENSG00000100591|ENSG00000100591	ENST00000555133;ENST00000216479;ENST00000535854|ENST00000553374	.|.	.|.	.|.	5.78|5.78	3.01|3.01	0.34805|0.34805	Activator of Hsp90 ATPase, N-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76054|0.76054	0.3934|0.3934	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.83275|.	0.992;0.996|.	T|T	0.76041|0.76041	-0.3104|-0.3104	9|5	0.38643|.	T|.	0.18|.	-13.9488|-13.9488	9.3006|9.3006	0.37842|0.37842	0.0:0.6574:0.0:0.3426|0.0:0.6574:0.0:0.3426	.|.	159;159|.	B4DUR9;O95433|.	.;AHSA1_HUMAN|.	L|N	24;159;159|105	.|.	ENSP00000216479:F159L|.	F|H	+|+	3|1	2|0	AHSA1|AHSA1	77000698|77000698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	1.758000|1.758000	0.38410|0.38410	0.468000|0.468000	0.27243|0.27243	-0.812000|-0.812000	0.03155|0.03155	TTC|CAC		0.458	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		13	25	1	0	5.51e-06	5.88e-06	13	25				
CLMN	79789	broad.mit.edu	37	14	95677035	95677035	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:95677035G>A	ENST00000298912.4	-	7	903	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	264	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCTGGCTCCAGGAGCCTGGGG	0.458																																						uc001yef.2		NA																	0					0						c.(790-792)CTG>TTG		calmin							101.0	98.0	99.0					14																	95677035		2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95677035G>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.790C>T	14.37:g.95677035G>A							p.L264L	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	7	906	-			264			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.790C>T	CCDS9933.1																																																																																				0.458	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			7	85	0	0	0	0	7	85				
EIF5	1983	broad.mit.edu	37	14	103802212	103802212	+	Silent	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:103802212C>G	ENST00000216554.3	+	3	691	c.15C>G	c.(13-15)gtC>gtG	p.V5V	EIF5_ENST00000558506.1_Silent_p.V5V|EIF5_ENST00000560200.1_3'UTR|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000392715.2_Silent_p.V5V	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	5					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CTGTCAATGTCAACCGCAGCG	0.403																																						uc001ymq.2		NA																	0				pancreas(1)|breast(1)|skin(1)	3						c.(13-15)GTC>GTG		eukaryotic translation initiation factor 5							138.0	129.0	132.0					14																	103802212		2203	4300	6503	SO:0001819	synonymous_variant	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103802212C>G	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.15C>G	14.37:g.103802212C>G						EIF5_uc001ymr.2_Silent_p.V5V|EIF5_uc001yms.2_Silent_p.V5V|EIF5_uc001ymt.2_Silent_p.V5V|EIF5_uc001ymu.2_Silent_p.V5V|SNORA28_uc001ymv.1_5'Flank	p.V5V	NM_001969	NP_001960	P55010	IF5_HUMAN	Epithelial(46;0.182)		3	537	+		Melanoma(154;0.155)	5					Q53XB3|Q9H5N2|Q9UG48	Silent	SNP	ENST00000216554.3	37	c.15C>G	CCDS9980.1																																																																																				0.403	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		31	102	0	0	0	0	31	102				
PACS2	23241	broad.mit.edu	37	14	105849196	105849196	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr14:105849196C>T	ENST00000325438.8	+	15	2063	c.1559C>T	c.(1558-1560)tCt>tTt	p.S520F	PACS2_ENST00000430725.2_Missense_Mutation_p.S445F|PACS2_ENST00000547217.1_Missense_Mutation_p.S490F|PACS2_ENST00000447393.1_Missense_Mutation_p.S524F|PACS2_ENST00000551743.1_5'Flank|PACS2_ENST00000458164.2_Missense_Mutation_p.S524F			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	520					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGCACGTGCTCTCCTGCGGAC	0.637																																						uc001yqt.2		NA																	0				pancreas(1)	1						c.(1558-1560)TCT>TTT		phosphofurin acidic cluster sorting protein 2							82.0	69.0	73.0					14																	105849196		2202	4300	6502	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105849196C>T	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1559C>T	14.37:g.105849196C>T	ENSP00000321834:p.Ser520Phe					PACS2_uc001yqs.2_Missense_Mutation_p.S445F|PACS2_uc001yqv.2_Missense_Mutation_p.S524F|PACS2_uc001yqu.2_Missense_Mutation_p.S524F	p.S520F	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	15	1734	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	520					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.1559C>T	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645343	0.47258	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.34	4.34	0.51931	.	0.057444	0.64402	D	0.000001	T	0.62490	0.2432	M	0.77820	2.39	0.80722	D	1	B;B;B;D	0.54601	0.167;0.272;0.243;0.967	B;B;B;P	0.53593	0.168;0.328;0.21;0.73	T	0.70684	-0.4804	10	0.87932	D	0	-19.4845	15.7494	0.77972	0.0:1.0:0.0:0.0	.	524;524;520;521	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	F	445;520;524;524;490	ENSP00000393524:S445F;ENSP00000321834:S520F;ENSP00000399732:S524F;ENSP00000393559:S524F;ENSP00000449525:S490F	ENSP00000321834:S520F	S	+	2	0	PACS2	104920241	1.000000	0.71417	0.731000	0.30826	0.043000	0.13939	5.867000	0.69597	2.106000	0.64143	0.462000	0.41574	TCT		0.637	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		5	17	0	0	0	0	5	17				
MKRN3	7681	broad.mit.edu	37	15	23811463	23811463	+	Silent	SNP	T	T	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:23811463T>G	ENST00000314520.3	+	1	1010	c.534T>G	c.(532-534)ggT>ggG	p.G178G	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	178					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGAAAGGGGTTTCTTTGAAG	0.612																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(532-534)GGT>GGG		makorin ring finger protein 3							28.0	32.0	31.0					15																	23811463		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811463T>G	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.534T>G	15.37:g.23811463T>G						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.G178G	p.G178G	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1010	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	178						Silent	SNP	ENST00000314520.3	37	c.534T>G	CCDS10013.1																																																																																				0.612	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		4	22	0	0	0	0	4	22				
PGBD4	161779	broad.mit.edu	37	15	34395158	34395158	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:34395158G>A	ENST00000397766.2	+	1	885	c.426G>A	c.(424-426)tcG>tcA	p.S142S	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	142										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAGGATTTTCGCGAATGGATA	0.413																																						uc001zho.2		NA																	0					0						c.(424-426)TCG>TCA		piggyBac transposable element derived 4							70.0	70.0	70.0					15																	34395158		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34395158G>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.426G>A	15.37:g.34395158G>A						C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	p.S142S	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	885	+		all_lung(180;1.76e-08)	142					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.426G>A	CCDS10033.1																																																																																				0.413	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			18	61	0	0	0	0	18	61				
MAPK6	5597	broad.mit.edu	37	15	52356502	52356502	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:52356502G>A	ENST00000261845.5	+	6	2278	c.1471G>A	c.(1471-1473)Ggc>Agc	p.G491S	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	491					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGATAAGAAAGGCAAATCAAA	0.383																																						uc002abp.2		NA																	0				lung(3)|ovary(1)	4						c.(1471-1473)GGC>AGC		mitogen-activated protein kinase 6							29.0	30.0	30.0					15																	52356502		2194	4288	6482	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52356502G>A	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1471G>A	15.37:g.52356502G>A	ENSP00000261845:p.Gly491Ser						p.G491S	NM_002748	NP_002739	Q16659	MK06_HUMAN		all cancers(107;0.0028)	6	2265	+			491					B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.1471G>A	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739563	0.30774	.	.	ENSG00000069956	ENST00000261845	T	0.71579	-0.58	5.41	5.41	0.78517	.	0.093139	0.64402	D	0.000001	T	0.61388	0.2343	N	0.25647	0.755	0.58432	D	0.999999	B	0.21520	0.057	B	0.16289	0.015	T	0.55939	-0.8061	10	0.39692	T	0.17	-12.8253	19.3681	0.94473	0.0:0.0:1.0:0.0	.	491	Q16659	MK06_HUMAN	S	491	ENSP00000261845:G491S	ENSP00000261845:G491S	G	+	1	0	MAPK6	50143794	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.463000	0.66712	2.606000	0.88127	0.638000	0.83543	GGC		0.383	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		5	21	0	0	0	0	5	21				
ITGA11	22801	broad.mit.edu	37	15	68695271	68695271	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:68695271G>C	ENST00000315757.7	-	2	236	c.150C>G	c.(148-150)atC>atG	p.I50M	ITGA11_ENST00000423218.2_Missense_Mutation_p.I50M	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	50					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TATTGCCACTGATGTCGTGCT	0.632																																						uc002ari.2		NA																	0				kidney(2)|pancreas(1)	3						c.(148-150)ATC>ATG		integrin, alpha 11 precursor	Tirofiban(DB00775)						47.0	52.0	50.0					15																	68695271		2088	4215	6303	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68695271G>C	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.150C>G	15.37:g.68695271G>C	ENSP00000327290:p.Ile50Met					ITGA11_uc010bib.2_Missense_Mutation_p.I50M	p.I50M	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			2	237	-			50			FG-GAP 1.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.150C>G	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267176	0.40095	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.72835	-0.69;-0.69	5.11	3.24	0.37175	.	0.124009	0.56097	D	0.000032	T	0.70579	0.3240	L	0.44542	1.39	0.31589	N	0.65414	D;D	0.63880	0.988;0.993	P;P	0.57679	0.719;0.825	T	0.71563	-0.4555	10	0.46703	T	0.11	.	7.1813	0.25774	0.2749:0.0:0.725:0.0	.	50;50	A8K8T0;Q9UKX5	.;ITA11_HUMAN	M	50	ENSP00000327290:I50M;ENSP00000403392:I50M	ENSP00000327290:I50M	I	-	3	3	ITGA11	66482325	0.987000	0.35691	0.609000	0.28983	0.494000	0.33585	2.019000	0.41001	0.660000	0.30964	0.467000	0.42956	ATC		0.632	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		4	11	0	0	0	0	4	11				
PAQR5	54852	broad.mit.edu	37	15	69689821	69689821	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:69689821A>G	ENST00000340965.3	+	7	1195	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	PAQR5_ENST00000561153.1_Missense_Mutation_p.Q176R|PAQR5_ENST00000395407.2_Missense_Mutation_p.Q176R|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	176					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CTTGAAATCCAGAAGCCCAGA	0.507																																						uc002arz.2		NA																	0				ovary(2)	2						c.(526-528)CAG>CGG		progestin and adipoQ receptor family member V							180.0	149.0	160.0					15																	69689821		2199	4298	6497	SO:0001583	missense	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69689821A>G		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.527A>G	15.37:g.69689821A>G	ENSP00000343877:p.Gln176Arg					PAQR5_uc002asa.2_Missense_Mutation_p.Q176R	p.Q176R	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN			7	905	+			176			Cytoplasmic (Potential).		Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	c.527A>G	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	A	8.055	0.766889	0.15983	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.21191	2.02;2.02	5.12	3.98	0.46160	.	0.340768	0.35349	N	0.003279	T	0.11580	0.0282	N	0.25992	0.78	0.43179	D	0.994997	B	0.06786	0.001	B	0.15484	0.013	T	0.10451	-1.0629	10	0.02654	T	1	-23.3785	8.9943	0.36043	0.8136:0.1864:0.0:0.0	.	176	Q9NXK6	MPRG_HUMAN	R	176	ENSP00000378803:Q176R;ENSP00000343877:Q176R	ENSP00000343877:Q176R	Q	+	2	0	PAQR5	67476875	0.998000	0.40836	0.591000	0.28745	0.155000	0.21991	3.970000	0.56824	0.966000	0.38159	0.459000	0.35465	CAG		0.507	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		8	62	0	0	0	0	8	62				
ACAN	176	broad.mit.edu	37	15	89400924	89400924	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:89400924G>A	ENST00000561243.1	+	11	5108	c.5108G>A	c.(5107-5109)aGt>aAt	p.S1703N	ACAN_ENST00000559004.1_Missense_Mutation_p.S1703N|ACAN_ENST00000352105.7_Missense_Mutation_p.S1703N|ACAN_ENST00000439576.2_Missense_Mutation_p.S1703N			P16112	PGCA_HUMAN	aggrecan	1751	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGACATTAGTGGGAGAGCT	0.537																																						uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5107-5109)AGT>AAT		aggrecan isoform 2 precursor							164.0	162.0	163.0					15																	89400924		1977	4168	6145	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400924G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5108G>A	15.37:g.89400924G>A	ENSP00000453342:p.Ser1703Asn					ACAN_uc010upp.1_Missense_Mutation_p.S1703N|ACAN_uc002bna.2_RNA	p.S1703N	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5482	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1703					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5108G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710048	0.48517	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03982	4.0;3.74	5.62	5.62	0.85841	.	0.000000	0.37955	N	0.001861	T	0.25680	0.0625	M	0.83953	2.67	0.36457	D	0.866438	D;D	0.71674	0.998;0.995	D;D	0.81914	0.995;0.989	T	0.07731	-1.0757	10	0.72032	D	0.01	-14.0501	18.2391	0.89960	0.0:0.0:1.0:0.0	.	1703;1703	E7ENV9;E7EX88	.;.	N	1703;1703;1589	ENSP00000387356:S1703N;ENSP00000341615:S1703N	ENSP00000268134:S1589N	S	+	2	0	ACAN	87201928	1.000000	0.71417	0.976000	0.42696	0.081000	0.17604	7.257000	0.78362	2.659000	0.90383	0.655000	0.94253	AGT		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	172	0	0	0	0	5	172				
CRTC3	64784	broad.mit.edu	37	15	91181798	91181798	+	Missense_Mutation	SNP	C	C	T	rs193921108		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:91181798C>T	ENST00000268184.6	+	12	1391	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	CRTC3_ENST00000420329.2_Missense_Mutation_p.R463C|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	463					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCAGCAGCCCCGCGCCCCTGA	0.672			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2		NA		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				salivary_gland(26)|ovary(1)	27						c.(1387-1389)CGC>TGC		transducer of regulated CREB protein 3 isoform							39.0	45.0	43.0					15																	91181798		2198	4297	6495	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91181798C>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1387C>T	15.37:g.91181798C>T	ENSP00000268184:p.Arg463Cys					CRTC3_uc002bpo.2_Missense_Mutation_p.R463C	p.R463C	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		12	1493	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		463					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.1387C>T	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	8.814	0.936017	0.18206	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.12039	2.72;2.72	5.83	2.65	0.31530	.	2.220480	0.01271	N	0.009458	T	0.12050	0.0293	N	0.22421	0.69	0.20074	N	0.999936	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.23583	-1.0184	10	0.38643	T	0.18	1.6154	8.2706	0.31842	0.1372:0.7065:0.0:0.1563	.	463;463	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	C	427;463;463	ENSP00000268184:R463C;ENSP00000416573:R463C	ENSP00000268184:R463C	R	+	1	0	CRTC3	88982802	0.378000	0.25114	0.509000	0.27700	0.085000	0.17905	1.628000	0.37060	0.833000	0.34828	0.650000	0.86243	CGC		0.672	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		15	56	0	0	0	0	15	56				
IGF1R	3480	broad.mit.edu	37	15	99251204	99251204	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr15:99251204G>T	ENST00000268035.6	+	2	1119	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L	IGF1R_ENST00000558762.1_Missense_Mutation_p.V170L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	170					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TAACTACATTGTGGGGAATAA	0.517																																						uc002bul.2		NA																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(508-510)GTG>TTG		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						110.0	99.0	103.0					15																	99251204		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251204G>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.508G>T	15.37:g.99251204G>T	ENSP00000268035:p.Val170Leu					IGF1R_uc010urq.1_Missense_Mutation_p.V170L|IGF1R_uc010bon.2_Missense_Mutation_p.V170L	p.V170L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	558	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		170					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.508G>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.477041	0.63849	.	.	ENSG00000140443	ENST00000268035	D	0.97209	-4.29	5.36	5.36	0.76844	.	0.000000	0.48767	D	0.000172	D	0.94886	0.8347	L	0.41824	1.3	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	D	0.91358	0.5109	10	0.44086	T	0.13	.	18.4346	0.90640	0.0:0.0:1.0:0.0	.	170;170	C9J5X1;P08069	.;IGF1R_HUMAN	L	170	ENSP00000268035:V170L	ENSP00000268035:V170L	V	+	1	0	IGF1R	97068727	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.801000	0.62532	2.659000	0.90383	0.563000	0.77884	GTG		0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		9	95	1	0	7.48e-07	8.11e-07	9	95				
UBN1	29855	broad.mit.edu	37	16	4909145	4909145	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:4909145G>C	ENST00000396658.4	+	4	1255	c.552G>C	c.(550-552)aaG>aaC	p.K184N	UBN1_ENST00000545171.1_Missense_Mutation_p.K184N|UBN1_ENST00000590769.1_Missense_Mutation_p.K184N|UBN1_ENST00000262376.6_Missense_Mutation_p.K184N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	184	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGAAAAGAAGAAAAAATCTC	0.393																																						uc002cyb.2		NA																	0				skin(2)	2						c.(550-552)AAG>AAC		ubinuclein 1							72.0	71.0	71.0					16																	4909145		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4909145G>C	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.552G>C	16.37:g.4909145G>C	ENSP00000379894:p.Lys184Asn					UBN1_uc010uxw.1_Missense_Mutation_p.K184N|UBN1_uc002cyc.2_Missense_Mutation_p.K184N	p.K184N	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			5	891	+			184			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.552G>C	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413044	0.62511	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.54279	1.17;0.58;1.17	5.87	5.87	0.94306	.	0.109437	0.64402	D	0.000007	T	0.68742	0.3034	L	0.46157	1.445	0.44092	D	0.996856	D;D	0.76494	0.999;0.999	D;D	0.74674	0.973;0.984	T	0.66324	-0.5952	10	0.54805	T	0.06	-14.4094	20.5827	0.99408	0.0:0.0:1.0:0.0	.	184;184	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	N	184	ENSP00000262376:K184N;ENSP00000442379:K184N;ENSP00000379894:K184N	ENSP00000262376:K184N	K	+	3	2	UBN1	4849146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.420000	0.73349	2.941000	0.99782	0.655000	0.94253	AAG		0.393	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		18	43	0	0	0	0	18	43				
OTOA	146183	broad.mit.edu	37	16	21698871	21698871	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:21698871C>T	ENST00000286149.4	+	7	538	c.537C>T	c.(535-537)atC>atT	p.I179I	OTOA_ENST00000388956.4_Silent_p.I100I|OTOA_ENST00000388958.3_Silent_p.I179I			Q7RTW8	OTOAN_HUMAN	otoancorin	179					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTGTGGAGATCCTGGGCAAGG	0.592																																						uc002djh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(535-537)ATC>ATT		otoancorin isoform 1							78.0	70.0	73.0					16																	21698871		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698871C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.537C>T	16.37:g.21698871C>T						uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.I100I	p.I179I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	7	538	+			179					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.537C>T																																																																																					0.592	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			9	43	0	0	0	0	9	43				
PPP4C	5531	broad.mit.edu	37	16	30093814	30093814	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:30093814G>A	ENST00000279387.7	+	4	328	c.160G>A	c.(160-162)Gac>Aac	p.D54N	PPP4C_ENST00000561610.1_Missense_Mutation_p.D54N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	54					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGTGTGCGGCGACATCCATGG	0.522																																						uc002dwe.2		NA																	0				skin(1)	1						c.(160-162)GAC>AAC		protein phosphatase 4, catalytic subunit							104.0	89.0	94.0					16																	30093814		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30093814G>A		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.160G>A	16.37:g.30093814G>A	ENSP00000279387:p.Asp54Asn					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.D54N|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_5'UTR	p.D54N	NM_002720	NP_002711	P60510	PP4C_HUMAN			4	304	+			54				Iron (By similarity).	P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.160G>A	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450968	0.63290	.	.	ENSG00000149923	ENST00000279387	D	0.99842	-7.1	5.88	4.93	0.64822	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.97783	4.075	0.80722	D	1	D	0.55385	0.971	P	0.51657	0.676	D	0.96754	0.9556	10	0.66056	D	0.02	-1.226	15.362	0.74483	0.0:0.0:0.8591:0.1409	.	54	P60510	PP4C_HUMAN	N	54	ENSP00000279387:D54N	ENSP00000279387:D54N	D	+	1	0	PPP4C	30001315	1.000000	0.71417	0.849000	0.33467	0.366000	0.29705	9.363000	0.97131	1.489000	0.48450	0.561000	0.74099	GAC		0.522	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		4	45	0	0	0	0	4	45				
NOD2	64127	broad.mit.edu	37	16	50745595	50745595	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:50745595C>T	ENST00000300589.2	+	4	1878	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	591	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAAAGGTGTCGTGCCAGGGA	0.577																																						uc002egm.1		NA																	0				ovary(3)|skin(1)	4						c.(1771-1773)GTC>GTT		nucleotide-binding oligomerization domain							65.0	42.0	50.0					16																	50745595		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745595C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1773C>T	16.37:g.50745595C>T						NOD2_uc010cbk.1_Silent_p.V564V|NOD2_uc002egl.1_Silent_p.V369V|NOD2_uc010cbl.1_Silent_p.V369V|NOD2_uc010cbm.1_Silent_p.V369V|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.V591V	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1878	+		all_cancers(37;0.0156)	591			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.1773C>T	CCDS10746.1																																																																																				0.577	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		5	21	0	0	0	0	5	21				
CETP	1071	broad.mit.edu	37	16	57015105	57015105	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:57015105G>C	ENST00000566128.1	+	12	1254	c.987G>C	c.(985-987)aaG>aaC	p.K329N	CETP_ENST00000200676.3_Missense_Mutation_p.K394N|CETP_ENST00000379780.2_Missense_Mutation_p.K334N					cholesteryl ester transfer protein, plasma									p.K394N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CCTATTCTAAGAAAAAGCTCT	0.537																																						uc002eki.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)|skin(1)	2						c.(1180-1182)AAG>AAC		cholesteryl ester transfer protein, plasma							80.0	87.0	85.0					16																	57015105		2198	4300	6498	SO:0001583	missense	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57015105G>C	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.987G>C	16.37:g.57015105G>C	ENSP00000456276:p.Lys329Asn					CETP_uc002ekj.2_Missense_Mutation_p.K334N	p.K394N	NM_000078	NP_000069	P11597	CETP_HUMAN			12	1239	+			394						Missense_Mutation	SNP	ENST00000566128.1	37	c.1182G>C		.	.	.	.	.	.	.	.	.	.	G	9.434	1.086220	0.20390	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.06933	3.24;3.24	4.0	0.564	0.17302	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.627020	0.15316	U	0.268793	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	P;B	0.36535	0.557;0.323	B;B	0.30782	0.12;0.072	T	0.44003	-0.9356	10	0.17369	T	0.5	-8.0971	5.6948	0.17849	0.1132:0.3889:0.4978:0.0	.	334;394	P11597-2;P11597	.;CETP_HUMAN	N	394;334	ENSP00000200676:K394N;ENSP00000369106:K334N	ENSP00000200676:K394N	K	+	3	2	CETP	55572606	0.059000	0.20769	0.022000	0.16811	0.714000	0.41099	0.010000	0.13242	0.296000	0.22592	0.313000	0.20887	AAG		0.537	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		21	65	0	0	0	0	21	65				
CES2	8824	broad.mit.edu	37	16	66973244	66973244	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:66973244G>C	ENST00000317091.4	+	3	1582	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	CES2_ENST00000417689.1_Missense_Mutation_p.E200Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	136					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CCATAGCCATGAAGGCTCTAA	0.542																																					Ovarian(70;1230 1691 37888 38351)	uc002eqr.2		NA																	0					0						c.(598-600)GAA>CAA		carboxylesterase 2 isoform 1							101.0	97.0	98.0					16																	66973244		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66973244G>C	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.598G>C	16.37:g.66973244G>C	ENSP00000317842:p.Glu200Gln					CES2_uc002eqq.2_Missense_Mutation_p.E200Q|CES2_uc002eqs.2_Missense_Mutation_p.E43Q	p.E200Q	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	3	1598	+		Ovarian(137;0.0563)	136					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.598G>C	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446470	0.43429	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.59772	0.24;0.24	5.5	3.56	0.40772	Carboxylesterase, type B (1);	0.118223	0.37577	N	0.002024	T	0.52058	0.1711	L	0.39326	1.205	0.25414	N	0.988336	B;B	0.27498	0.18;0.18	B;B	0.37387	0.178;0.248	T	0.52162	-0.8612	10	0.56958	D	0.05	.	10.1819	0.42972	0.0741:0.1374:0.7885:0.0	.	136;200	O00748;A8K367	EST2_HUMAN;.	Q	200	ENSP00000394452:E200Q;ENSP00000317842:E200Q	ENSP00000317842:E200Q	E	+	1	0	CES2	65530745	0.004000	0.15560	0.449000	0.26957	0.104000	0.19210	0.015000	0.13355	0.878000	0.35920	0.655000	0.94253	GAA		0.542	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		25	88	0	0	0	0	25	88				
LRRC36	55282	broad.mit.edu	37	16	67418858	67418858	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67418858G>A	ENST00000329956.6	+	14	2150	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	LRRC36_ENST00000435835.3_Missense_Mutation_p.E486K|LRRC36_ENST00000563189.1_Missense_Mutation_p.E590K|LRRC36_ENST00000290940.7_3'UTR|LRRC36_ENST00000541146.1_Missense_Mutation_p.E183K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	711										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CCTGCCTCCTGAGAAGGGTCA	0.517																																						uc002esv.2		NA																	0					0						c.(2131-2133)GAG>AAG		leucine rich repeat containing 36 isoform 1							90.0	86.0	87.0					16																	67418858		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67418858G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.2131G>A	16.37:g.67418858G>A	ENSP00000329943:p.Glu711Lys					LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Missense_Mutation_p.E590K|LRRC36_uc010vjk.1_Missense_Mutation_p.E486K|LRRC36_uc010vjl.1_Missense_Mutation_p.E183K|LRRC36_uc002esy.2_Missense_Mutation_p.E221K	p.E711K	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	14	2150	+		Ovarian(137;0.192)	711					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.2131G>A	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207310	0.79240	.	.	ENSG00000159708	ENST00000329956;ENST00000541146;ENST00000435835	T;T;T	0.59083	2.64;0.29;1.01	5.45	5.45	0.79879	.	0.000000	0.56097	D	0.000030	T	0.67674	0.2918	L	0.51422	1.61	0.32914	D	0.514901	P;D;D;P	0.71674	0.799;0.998;0.99;0.799	B;D;P;B	0.78314	0.275;0.991;0.878;0.187	T	0.73341	-0.4013	10	0.48119	T	0.1	-8.9016	10.1113	0.42563	0.0882:0.0:0.9117:0.0	.	183;486;590;711	B7Z4G3;B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;.;LRC36_HUMAN	K	711;183;486	ENSP00000329943:E711K;ENSP00000445861:E183K;ENSP00000411122:E486K	ENSP00000329943:E711K	E	+	1	0	LRRC36	65976359	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	3.746000	0.55127	2.838000	0.97847	0.563000	0.77884	GAG		0.517	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		13	44	0	0	0	0	13	44				
CTCF	10664	broad.mit.edu	37	16	67650751	67650751	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67650751G>A	ENST00000264010.4	+	5	1500	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Silent_p.K24K	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	352					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCATTCAAGTGTTCCATGT	0.463																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	0				ovary(1)	1						c.(1054-1056)AAG>AAA		CCCTC-binding factor							330.0	272.0	291.0					16																	67650751		2198	4300	6498	SO:0001819	synonymous_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67650751G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1056G>A	16.37:g.67650751G>A						CTCF_uc010cek.2_Silent_p.K24K	p.K352K	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	5	1346	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	352			C2H2-type 4.		B5MC38|Q53XI7|Q59EL8	Silent	SNP	ENST00000264010.4	37	c.1056G>A	CCDS10841.1																																																																																				0.463	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		16	181	0	0	0	0	16	181				
CTCF	10664	broad.mit.edu	37	16	67655479	67655479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:67655479C>T	ENST00000264010.4	+	7	1786	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.R120*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	448			R -> Q (in a Wilms' tumor). {ECO:0000269|PubMed:11782357}.		chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R448*(3)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGTCATAGCCCGAAAAAGTGA	0.368																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	3	Substitution - Nonsense(3)		endometrium(3)	ovary(1)	1						c.(1342-1344)CGA>TGA		CCCTC-binding factor							72.0	64.0	67.0					16																	67655479		2198	4300	6498	SO:0001587	stop_gained	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67655479C>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1342C>T	16.37:g.67655479C>T	ENSP00000264010:p.Arg448*					CTCF_uc010cek.2_Nonsense_Mutation_p.R120*	p.R448*	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	7	1632	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	448		R -> Q (in a Wilms' tumor).	C2H2-type 7.		B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	ENST00000264010.4	37	c.1342C>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	39	7.655737	0.98415	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	.	.	.	5.84	3.74	0.42951	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2634	13.7144	0.62687	0.4223:0.5777:0.0:0.0	.	.	.	.	X	448;120	.	ENSP00000264010:R448X	R	+	1	2	CTCF	66212980	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	2.153000	0.42282	1.450000	0.47717	0.655000	0.94253	CGA		0.368	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		5	25	0	0	0	0	5	25				
SMPD3	55512	broad.mit.edu	37	16	68405851	68405851	+	Silent	SNP	C	C	T	rs147838351		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:68405851C>T	ENST00000219334.5	-	3	837	c.234G>A	c.(232-234)gcG>gcA	p.A78A	SMPD3_ENST00000563226.1_Silent_p.A78A|SMPD3_ENST00000568373.1_Silent_p.A78A|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	78					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGCCGAGAAACGCAAAGGGCA	0.672																																						uc002ewa.2		NA																	0				skin(1)	1						c.(232-234)GCG>GCA		neutral sphingomyelin phosphodiesterase 3	Phosphatidylserine(DB00144)	C		1,4391		0,1,2195	22.0	22.0	22.0		234	-10.6	0.0	16	dbSNP_134	22	0,8596		0,0,4298	no	coding-synonymous	SMPD3	NM_018667.3		0,1,6493	TT,TC,CC		0.0,0.0228,0.0077		78/656	68405851	1,12987	2196	4298	6494	SO:0001819	synonymous_variant	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68405851C>T	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.234G>A	16.37:g.68405851C>T						SMPD3_uc010cfe.2_Silent_p.A78A|SMPD3_uc010vlh.1_Silent_p.A78A	p.A78A	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	656	-		Ovarian(137;0.0563)	78			Helical; (Potential).		B7ZL82|Q2M1S8	Silent	SNP	ENST00000219334.5	37	c.234G>A	CCDS10867.1																																																																																				0.672	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		4	14	0	0	0	0	4	14				
TMED6	146456	broad.mit.edu	37	16	69381705	69381705	+	Missense_Mutation	SNP	G	G	C	rs117823350	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:69381705G>C	ENST00000288025.3	-	3	530	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.S151C|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	159					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						ATTGCATCCAGAGTATCATTC	0.413																																						uc002exc.1		NA																	0				ovary(1)	1						c.(475-477)CTG>GTG		transmembrane emp24 protein transport domain							289.0	274.0	279.0					16																	69381705		2198	4300	6498	SO:0001583	missense	146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69381705G>C	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.475C>G	16.37:g.69381705G>C	ENSP00000288025:p.Leu159Val						p.L159V	NM_144676	NP_653277	Q8WW62	TMED6_HUMAN			3	508	-			159			Lumenal (Potential).		Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	37	c.475C>G	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058510	0.55325	.	.	ENSG00000157315	ENST00000288025	T	0.19938	2.11	5.32	2.28	0.28536	GOLD (1);	0.000000	0.85682	D	0.000000	T	0.33177	0.0854	L	0.49126	1.545	0.49687	D	0.999818	D	0.89917	1.0	D	0.77557	0.99	T	0.04946	-1.0916	10	0.18276	T	0.48	-10.1267	10.0093	0.41977	0.327:0.0:0.673:0.0	.	159	Q8WW62	TMED6_HUMAN	V	159	ENSP00000288025:L159V	ENSP00000288025:L159V	L	-	1	2	TMED6	67939206	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.141000	0.50593	0.743000	0.32719	-0.140000	0.14226	CTG		0.413	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		28	149	0	0	0	0	28	149				
TMED6	146456	broad.mit.edu	37	16	69383442	69383442	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:69383442G>C	ENST00000288025.3	-	2	381	c.326C>G	c.(325-327)tCt>tGt	p.S109C	RP11-343C2.7_ENST00000564737.1_Silent_p.L101L|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	109	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						CTCTTGGGTAGAGAAGTTAAT	0.443																																						uc002exc.1		NA																	0				ovary(1)	1						c.(325-327)TCT>TGT		transmembrane emp24 protein transport domain							155.0	164.0	161.0					16																	69383442		2198	4300	6498	SO:0001583	missense	146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69383442G>C	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.326C>G	16.37:g.69383442G>C	ENSP00000288025:p.Ser109Cys						p.S109C	NM_144676	NP_653277	Q8WW62	TMED6_HUMAN			2	359	-			109			Lumenal (Potential).|GOLD.		Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	37	c.326C>G	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680232	0.47886	.	.	ENSG00000157315	ENST00000288025	T	0.18960	2.18	5.8	3.83	0.44106	GOLD (2);	0.928478	0.09359	N	0.813011	T	0.26629	0.0651	L	0.50333	1.59	0.21579	N	0.999634	P	0.34815	0.47	B	0.43809	0.432	T	0.35076	-0.9803	10	0.59425	D	0.04	-1.6275	5.2243	0.15385	0.1519:0.0:0.4401:0.408	.	109	Q8WW62	TMED6_HUMAN	C	109	ENSP00000288025:S109C	ENSP00000288025:S109C	S	-	2	0	TMED6	67940943	0.024000	0.19004	0.987000	0.45799	0.998000	0.95712	0.648000	0.24828	0.795000	0.33922	0.655000	0.94253	TCT		0.443	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		33	137	0	0	0	0	33	137				
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A	rs369294701		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:77465453G>A	ENST00000282849.5	-	3	652	c.234C>T	c.(232-234)caC>caT	p.H78H	RP11-449J10.1_ENST00000564358.1_RNA|ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	78					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAAATGTCGTGTGAAATAT	0.488																																						uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(232-234)CAC>CAT		ADAM metallopeptidase with thrombospondin type 1		G		0,4396		0,0,2198	199.0	206.0	204.0		234	-0.3	1.0	16		204	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS18	NM_199355.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		78/1222	77465453	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77465453G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.234C>T	16.37:g.77465453G>A						ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	p.H78H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			3	653	-			78					Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.234C>T	CCDS10926.1																																																																																				0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			16	249	0	0	0	0	16	249				
SLC7A5	8140	broad.mit.edu	37	16	87874057	87874057	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr16:87874057C>T	ENST00000261622.4	-	4	858	c.793G>A	c.(793-795)Gag>Aag	p.E265K	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	265					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	ATCATTTCCTCTGTGACGAAA	0.423																																						uc002fkm.2		NA																	0					0						c.(793-795)GAG>AAG		solute carrier family 7 (cationic amino acid							123.0	121.0	122.0					16																	87874057		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87874057C>T	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.793G>A	16.37:g.87874057C>T	ENSP00000261622:p.Glu265Lys						p.E265K	NM_003486	NP_003477	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	4	865	-			265					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.793G>A	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346913	0.82022	.	.	ENSG00000103257	ENST00000261622	D	0.90620	-2.7	5.7	5.7	0.88788	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96769	0.8945	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97376	0.9979	10	0.87932	D	0	.	18.8259	0.92119	0.0:1.0:0.0:0.0	.	265	Q01650	LAT1_HUMAN	K	265	ENSP00000261622:E265K	ENSP00000261622:E265K	E	-	1	0	SLC7A5	86431558	1.000000	0.71417	0.980000	0.43619	0.103000	0.19146	7.146000	0.77373	2.711000	0.92665	0.561000	0.74099	GAG		0.423	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		10	66	0	0	0	0	10	66				
RABEP1	9135	broad.mit.edu	37	17	5264712	5264712	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:5264712C>A	ENST00000546142.2	+	9	1492	c.1305C>A	c.(1303-1305)gaC>gaA	p.D435E	RABEP1_ENST00000341923.6_Missense_Mutation_p.D435E|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Missense_Mutation_p.D435E|RABEP1_ENST00000537505.1_Missense_Mutation_p.D392E|NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000262477.6_Missense_Mutation_p.D435E			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	435					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAAACCTGGACGAGTCAGATT	0.468																																						uc002gbm.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(1303-1305)GAC>GAA		rabaptin, RAB GTPase binding effector protein 1							90.0	85.0	87.0					17																	5264712		1898	4126	6024	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5264712C>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1305C>A	17.37:g.5264712C>A	ENSP00000437701:p.Asp435Glu					RABEP1_uc010clc.1_Missense_Mutation_p.D428E|RABEP1_uc010cld.1_Missense_Mutation_p.D392E|RABEP1_uc010vsw.1_Missense_Mutation_p.D392E|RABEP1_uc002gbl.3_Missense_Mutation_p.D435E|NUP88_uc002gbn.2_RNA	p.D435E	NM_004703	NP_004694	Q15276	RABE1_HUMAN			9	1529	+			435					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.1305C>A	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	c	16.11	3.030969	0.54790	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.51325	0.72;0.74;0.72;0.74;0.71	5.54	-10.9	0.00192	.	0.047077	0.85682	N	0.000000	T	0.14442	0.0349	N	0.12182	0.205	0.80722	D	1	B;B;B;B;B	0.31125	0.135;0.083;0.309;0.041;0.212	B;B;B;B;B	0.30251	0.085;0.039;0.089;0.013;0.113	T	0.45877	-0.9231	10	0.02654	T	1	-12.9414	7.3378	0.26619	0.0829:0.2106:0.0827:0.6239	.	392;392;428;435;435	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	E	435;435;428;435;435;392	ENSP00000262477:D435E;ENSP00000386150:D435E;ENSP00000437701:D435E;ENSP00000339569:D435E;ENSP00000445408:D392E	ENSP00000262477:D435E	D	+	3	2	RABEP1	5205436	0.001000	0.12720	0.726000	0.30738	0.988000	0.76386	-1.417000	0.02464	-1.629000	0.01546	-0.733000	0.03571	GAC		0.468	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		8	45	1	0	5.18e-06	5.56e-06	8	45				
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:7578433G>C	ENST00000269305.4	-	5	686	c.497C>G	c.(496-498)tCa>tGa	p.S166*	TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000420246.2_Nonsense_Mutation_p.S166*	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	166	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(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)	CATGTGCTGTGACTGCTTGTA	0.632		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		56	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Missense(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(1)	p.S166*(19)|p.0?(7)|p.S166P(5)|p.S166L(4)|p.Q167fs*14(4)|p.S166A(2)|p.S166fs*15(2)|p.S166S(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.K164_P219del(1)|p.S166T(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)|p.Q165_S166insXXX(1)	lung(18)|breast(7)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|liver(3)|stomach(2)|urinary_tract(2)|ovary(2)|skin(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.(496-498)TCA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	54.0	54.0					17																	7578433		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578433G>C	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.497C>G	17.37:g.7578433G>C	ENSP00000269305:p.Ser166*	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_Nonsense_Mutation_p.S166*|TP53_uc002gih.2_Nonsense_Mutation_p.S166*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.S34*|TP53_uc010cng.1_Nonsense_Mutation_p.S34*|TP53_uc002gii.1_Nonsense_Mutation_p.S34*|TP53_uc010cnh.1_Nonsense_Mutation_p.S166*|TP53_uc010cni.1_Nonsense_Mutation_p.S166*|TP53_uc002gij.2_Nonsense_Mutation_p.S166*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.S73*|TP53_uc002gio.2_Nonsense_Mutation_p.S34*|TP53_uc010vug.1_Nonsense_Mutation_p.S127*	p.S166*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	691	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	166		S -> T (in sporadic cancers; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; 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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.497C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661170	0.47572	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	.	0.284727	0.34002	N	0.004360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-10.3004	12.6801	0.56916	0.0803:0.0:0.9197:0.0	.	.	.	.	X	166;166;166;166;166;166;155;73;34;73;34	.	ENSP00000269305:S166X	S	-	2	0	TP53	7519158	0.909000	0.30893	0.776000	0.31678	0.112000	0.19704	4.756000	0.62205	1.513000	0.48852	0.655000	0.94253	TCA		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	44	0	0	0	0	12	44				
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	rs587782144		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000420246.2_Missense_Mutation_p.R158H	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GGCCATGGCGCGGACGCGGGT	0.627		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		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(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	GRCh37	CM994513	TP53	M		c.(472-474)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		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.chr17:7578457C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	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.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	p.R158H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.473G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	54	0	0	0	0	8	54				
PFAS	5198	broad.mit.edu	37	17	8159892	8159892	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:8159892G>A	ENST00000314666.6	+	8	1005	c.872G>A	c.(871-873)cGg>cAg	p.R291Q	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	291					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GACCCCACACGGCCAAGCCGC	0.547																																						uc002gkr.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(871-873)CGG>CAG		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						65.0	57.0	60.0					17																	8159892		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8159892G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.872G>A	17.37:g.8159892G>A	ENSP00000313490:p.Arg291Gln					PFAS_uc010vuv.1_5'UTR	p.R291Q	NM_012393	NP_036525	O15067	PUR4_HUMAN			8	1013	+			291					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.872G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	4.349	0.064153	0.08388	.	.	ENSG00000178921	ENST00000314666	T	0.41065	1.01	5.01	-2.94	0.05581	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.777394	0.12044	N	0.504806	T	0.13030	0.0316	N	0.00656	-1.285	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.31916	-0.9926	10	0.19590	T	0.45	-2.0565	13.466	0.61254	0.3219:0.0:0.6781:0.0	.	291	O15067	PUR4_HUMAN	Q	291	ENSP00000313490:R291Q	ENSP00000313490:R291Q	R	+	2	0	PFAS	8100617	0.003000	0.15002	0.035000	0.18076	0.503000	0.33858	0.308000	0.19314	-0.731000	0.04862	-0.440000	0.05779	CGG		0.547	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			7	27	0	0	0	0	7	27				
NT5M	56953	broad.mit.edu	37	17	17248203	17248203	+	Silent	SNP	C	C	T	rs201242235		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:17248203C>T	ENST00000389022.4	+	4	741	c.525C>T	c.(523-525)gaC>gaT	p.D175D	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	175					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCTCATAGACGACCGGCCGG	0.602																																						uc002grf.2		NA																	0					0						c.(523-525)GAC>GAT		5',3'-nucleotidase, mitochondrial precursor							128.0	106.0	114.0					17																	17248203		2203	4300	6503	SO:0001819	synonymous_variant	56953				DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	g.chr17:17248203C>T	AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"""5' nucleotidase, mitochondrial"""			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.525C>T	17.37:g.17248203C>T						NT5M_uc002gre.2_Silent_p.D175D|NT5M_uc002grg.2_Silent_p.D175D	p.D175D	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN			4	710	+			175						Silent	SNP	ENST00000389022.4	37	c.525C>T	CCDS32581.1																																																																																				0.602	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			12	34	0	0	0	0	12	34				
ALDH3A2	224	broad.mit.edu	37	17	19555870	19555870	+	Silent	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:19555870G>C	ENST00000176643.6	+	3	842	c.396G>C	c.(394-396)gtG>gtC	p.V132V	ALDH3A2_ENST00000581518.1_Silent_p.V132V|ALDH3A2_ENST00000395575.2_Silent_p.V132V|Y_RNA_ENST00000578640.1_RNA|ALDH3A2_ENST00000339618.4_Silent_p.V132V|ALDH3A2_ENST00000579855.1_Silent_p.V132V			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	132					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					GAAATGCTGTGATTATAAAGC	0.353																																						uc002gwb.1		NA																	0				ovary(2)	2						c.(394-396)GTG>GTC		aldehyde dehydrogenase 3A2 isoform 2	NADH(DB00157)						115.0	116.0	116.0					17																	19555870		2203	4300	6503	SO:0001819	synonymous_variant	224				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19555870G>C	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.396G>C	17.37:g.19555870G>C						ALDH3A2_uc002gwa.1_Silent_p.V132V|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Silent_p.V132V	p.V132V	NM_000382	NP_000373	P51648	AL3A2_HUMAN			3	617	+	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)		132			Cytoplasmic.		Q6I9T3|Q93011|Q96J37	Silent	SNP	ENST00000176643.6	37	c.396G>C	CCDS11210.1																																																																																				0.353	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			10	53	0	0	0	0	10	53				
RUNDC1	146923	broad.mit.edu	37	17	41143656	41143656	+	Missense_Mutation	SNP	C	C	T	rs375753180	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:41143656C>T	ENST00000361677.1	+	5	1777	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	589	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTGCTCAGTCGCCTCAGCAG	0.547													C|||	4	0.000798722	0.003	0.0	5008	,	,		17708	0.0		0.0	False		,,,				2504	0.0					uc002ici.1		NA																	0					0						c.(1765-1767)CGC>TGC		RUN domain containing 1		C	CYS/ARG	0,4406		0,0,2203	67.0	56.0	60.0		1765	4.9	1.0	17		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	RUNDC1	NM_173079.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	589/614	41143656	1,13005	2203	4300	6503	SO:0001583	missense	146923							g.chr17:41143656C>T	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1765C>T	17.37:g.41143656C>T	ENSP00000354622:p.Arg589Cys					RUNDC1_uc010whi.1_Missense_Mutation_p.R359C	p.R589C	NM_173079	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1777	+		Breast(137;0.00499)	589			RUN.		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.1765C>T	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349568	0.82132	0.0	1.16E-4	ENSG00000198863	ENST00000361677	T	0.30714	1.52	4.91	4.91	0.64330	RUN (3);	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55611	-0.8114	10	0.66056	D	0.02	-12.9631	18.2709	0.90068	0.0:1.0:0.0:0.0	.	589	Q96C34	RUND1_HUMAN	C	589	ENSP00000354622:R589C	ENSP00000354622:R589C	R	+	1	0	RUNDC1	38397182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.639000	0.83342	2.538000	0.85594	0.655000	0.94253	CGC		0.547	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		9	23	0	0	0	0	9	23				
SPPL2C	162540	broad.mit.edu	37	17	43923775	43923775	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:43923775G>T	ENST00000329196.5	+	1	1520	c.1503G>T	c.(1501-1503)ttG>ttT	p.L501F	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	501						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										AACCTGCCTTGCTCTACCTAG	0.612																																						uc010wka.1		NA																	0				pancreas(2)	2						c.(1501-1503)TTG>TTT		intramembrane protease 5 precursor							97.0	86.0	90.0					17																	43923775		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923775G>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1503G>T	17.37:g.43923775G>T	ENSP00000332488:p.Leu501Phe					LOC100128977_uc010wjz.1_Intron	p.L501F	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	1503	+	Colorectal(2;0.0416)		501			Helical; (Potential).		Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.1503G>T	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320696	0.60634	.	.	ENSG00000185294	ENST00000329196	T	0.48836	0.8	5.07	1.97	0.26223	.	0.000000	0.35772	N	0.003000	T	0.74496	0.3724	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76418	-0.2966	10	0.87932	D	0	-29.6343	9.0511	0.36376	0.2407:0.0:0.7593:0.0	.	501	Q8IUH8	IMP5_HUMAN	F	501	ENSP00000332488:L501F	ENSP00000332488:L501F	L	+	3	2	AC217771.1	41279555	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.883000	0.28200	0.294000	0.22547	0.655000	0.94253	TTG		0.612	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		18	83	1	0	1.34e-09	1.49e-09	18	83				
INTS2	57508	broad.mit.edu	37	17	59999129	59999129	+	Silent	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:59999129T>C	ENST00000444766.3	-	4	591	c.516A>G	c.(514-516)gtA>gtG	p.V172V	INTS2_ENST00000251334.6_Silent_p.V164V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	172					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CCTCCAAATATACTGGACTCT	0.313																																						uc002izn.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(514-516)GTA>GTG		integrator complex subunit 2							57.0	56.0	56.0					17																	59999129		1803	4075	5878	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59999129T>C	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.516A>G	17.37:g.59999129T>C						INTS2_uc002izm.2_Silent_p.V164V	p.V172V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			4	592	-			172					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.516A>G	CCDS45750.1																																																																																				0.313	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		6	28	0	0	0	0	6	28				
PRKCA	5578	broad.mit.edu	37	17	64299053	64299053	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:64299053G>A	ENST00000413366.3	+	1	110	c.84G>A	c.(82-84)caG>caA	p.Q28Q	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	28					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CGCTGAGGCAGAAGAACGTGC	0.627																																						uc002jfp.1		NA																	0				central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9						c.(82-84)CAG>CAA		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						95.0	80.0	85.0					17																	64299053		2203	4300	6503	SO:0001819	synonymous_variant	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64299053G>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.84G>A	17.37:g.64299053G>A						PRKCA_uc002jfo.1_5'UTR	p.Q28Q	NM_002737	NP_002728	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		1	128	+			28					B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.84G>A	CCDS11664.1																																																																																				0.627	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			24	34	0	0	0	0	24	34				
UBE2O	63893	broad.mit.edu	37	17	74392877	74392877	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:74392877A>G	ENST00000319380.7	-	14	2205	c.2141T>C	c.(2140-2142)aTt>aCt	p.I714T	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	714					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGACTCCTCAATCTCAGACTC	0.557																																						uc002jrm.3		NA																	0				breast(2)|skin(2)|lung(1)	5						c.(2140-2142)ATT>ACT		ubiquitin-conjugating enzyme E2O							92.0	81.0	84.0					17																	74392877		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392877A>G	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2141T>C	17.37:g.74392877A>G	ENSP00000323687:p.Ile714Thr					UBE2O_uc002jrn.3_Missense_Mutation_p.I714T|UBE2O_uc002jrl.3_Missense_Mutation_p.I318T	p.I714T	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			14	2206	-			714					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2141T>C	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898627	0.33535	.	.	ENSG00000175931	ENST00000319380	T	0.74209	-0.82	5.08	5.08	0.68730	.	0.060326	0.64402	D	0.000004	T	0.63733	0.2536	L	0.40543	1.245	0.44976	D	0.997999	P	0.43477	0.808	B	0.33960	0.173	T	0.68830	-0.5305	10	0.52906	T	0.07	-15.0228	14.8506	0.70295	1.0:0.0:0.0:0.0	.	714	Q9C0C9	UBE2O_HUMAN	T	714	ENSP00000323687:I714T	ENSP00000323687:I714T	I	-	2	0	UBE2O	71904472	1.000000	0.71417	0.975000	0.42487	0.088000	0.18126	9.300000	0.96151	1.907000	0.55213	0.460000	0.39030	ATT		0.557	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		23	86	0	0	0	0	23	86				
SLC25A10	1468	broad.mit.edu	37	17	79686897	79686897	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:79686897G>A	ENST00000350690.5	+	10	828	c.742G>A	c.(742-744)Ggg>Agg	p.G248R	SLC25A10_ENST00000541223.1_Missense_Mutation_p.G403R|SLC25A10_ENST00000331531.5_Missense_Mutation_p.G257R|SLC25A10_ENST00000545862.1_Missense_Mutation_p.G205R|SLC25A10_ENST00000571730.1_Missense_Mutation_p.G403R	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	248					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)	p.G248W(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AGCGAAGCTCGGGCCTCTGGC	0.577																																						uc002kbi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(742-744)GGG>AGG		solute carrier family 25 (mitochondrial carrier;	Succinic acid(DB00139)						134.0	155.0	148.0					17																	79686897		2203	4300	6503	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79686897G>A		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.742G>A	17.37:g.79686897G>A	ENSP00000345580:p.Gly248Arg					SLC25A10_uc010wut.1_Missense_Mutation_p.G403R|SLC25A10_uc010dif.2_Missense_Mutation_p.G257R|SLC25A10_uc010wuu.1_Missense_Mutation_p.G202R	p.G248R	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		10	828	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		248			Solcar 3.		Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	ENST00000350690.5	37	c.742G>A	CCDS11786.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475324	0.84640	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47	4.36	4.36	0.52297	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	H	0.98388	4.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.999	D	0.98900	1.0776	10	0.87932	D	0	-14.5439	13.6125	0.62088	0.0:0.0:1.0:0.0	.	403;257;248	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	R	403;257;248;205	ENSP00000439565:G403R;ENSP00000328403:G257R;ENSP00000345580:G248R;ENSP00000446242:G205R	ENSP00000328403:G257R	G	+	1	0	SLC25A10	77297302	1.000000	0.71417	0.094000	0.20943	0.892000	0.51952	8.300000	0.89948	1.971000	0.57363	0.655000	0.94253	GGG		0.577	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			57	201	0	0	0	0	57	201				
ADCYAP1	116	broad.mit.edu	37	18	909477	909477	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:909477C>T	ENST00000579794.1	+	4	650	c.372C>T	c.(370-372)gaC>gaT	p.D124D	RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|ADCYAP1_ENST00000450565.3_Silent_p.D124D	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	124					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGGGGACGACGCGGAGCCGC	0.672																																						uc010dkg.2		NA																	0					0						c.(370-372)GAC>GAT		adenylate cyclase activating polypeptide							34.0	45.0	41.0					18																	909477		2201	4300	6501	SO:0001819	synonymous_variant	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:909477C>T	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.372C>T	18.37:g.909477C>T						ADCYAP1_uc010dkh.2_Silent_p.D124D	p.D124D	NM_001099733	NP_001093203	P18509	PACA_HUMAN			5	491	+			124					B2R7N4|Q52LQ0	Silent	SNP	ENST00000579794.1	37	c.372C>T	CCDS11825.1																																																																																				0.672	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		19	53	0	0	0	0	19	53				
EPB41L3	23136	broad.mit.edu	37	18	5415859	5415859	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:5415859G>A	ENST00000341928.2	-	13	2365	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	EPB41L3_ENST00000342933.3_Silent_p.S675S|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	675	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						CTAGGGAGGCGCTCAAGGAGG	0.577																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(2023-2025)AGC>AGT		erythrocyte membrane protein band 4.1-like 3							87.0	83.0	84.0					18																	5415859		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.chr18:5415859G>A	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.2025C>T	18.37:g.5415859G>A						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.S675S	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			13	2111	-			675			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.2025C>T	CCDS11838.1																																																																																				0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		10	37	0	0	0	0	10	37				
DSG1	1828	broad.mit.edu	37	18	28923432	28923432	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:28923432C>T	ENST00000257192.4	+	12	1919	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_5'Flank|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	569					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTTGATGATCTGTTGTGATT	0.438																																						uc002kwp.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1705-1707)ATC>ATT		desmoglein 1 preproprotein							222.0	197.0	205.0					18																	28923432		2203	4300	6503	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28923432C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1707C>T	18.37:g.28923432C>T						DSG1_uc010xbp.1_5'Flank	p.I569I	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		12	1919	+			569			Helical; (Potential).		B7Z845	Silent	SNP	ENST00000257192.4	37	c.1707C>T	CCDS11896.1																																																																																				0.438	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		29	129	0	0	0	0	29	129				
FHOD3	80206	broad.mit.edu	37	18	34156443	34156443	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr18:34156443G>A	ENST00000359247.4	+	6	541	c.541G>A	c.(541-543)Gga>Aga	p.G181R	FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.G181R|FHOD3_ENST00000257209.4_Missense_Mutation_p.G181R|FHOD3_ENST00000445677.1_Missense_Mutation_p.G181R	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	181	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTATGTGGATGGAATGAATGG	0.368																																						uc002kzt.1		NA																	0				skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(541-543)GGA>AGA		formin homology 2 domain containing 3							152.0	134.0	140.0					18																	34156443		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34156443G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.541G>A	18.37:g.34156443G>A	ENSP00000352186:p.Gly181Arg					FHOD3_uc002kzr.1_Missense_Mutation_p.G181R|FHOD3_uc002kzs.1_Missense_Mutation_p.G181R|FHOD3_uc002kzu.1_Missense_Mutation_p.G6R	p.G181R	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			6	638	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	181			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.541G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.065038	0.93898	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.24908	1.83;1.83;1.83	5.73	5.73	0.89815	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.83774	2.66	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.998	T	0.60806	-0.7190	10	0.87932	D	0	.	17.3817	0.87406	0.0:0.0:1.0:0.0	.	181;181;181	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	R	181	ENSP00000257209:G181R;ENSP00000352186:G181R;ENSP00000411430:G181R	ENSP00000257209:G181R	G	+	1	0	FHOD3	32410441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.360000	0.97119	2.694000	0.91930	0.655000	0.94253	GGA		0.368	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		11	42	0	0	0	0	11	42				
C19orf26	255057	broad.mit.edu	37	19	1235906	1235906	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:1235906G>A	ENST00000382477.2	-	3	373	c.99C>T	c.(97-99)gaC>gaT	p.D33D	C19orf26_ENST00000215376.6_Silent_p.D33D|AC004221.2_ENST00000592843.1_lincRNA|C19orf26_ENST00000590083.1_Silent_p.D39D			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	33						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATGGGGTCTGGCTCTG	0.682										HNSCC(14;0.022)																												uc002lrm.2		NA																	0					0						c.(97-99)GAC>GAT		downstream of Stk11							134.0	110.0	118.0					19																	1235906		2202	4300	6502	SO:0001819	synonymous_variant	255057					integral to membrane		g.chr19:1235906G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.99C>T	19.37:g.1235906G>A		HNSCC(14;0.022)					p.D33D	NM_152769	NP_689982	Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	374	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	33					O43385	Silent	SNP	ENST00000382477.2	37	c.99C>T																																																																																					0.682	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		24	72	0	0	0	0	24	72				
CATSPERD	257062	broad.mit.edu	37	19	5749165	5749165	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:5749165C>T	ENST00000381624.3	+	11	1019	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	320					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TTATGGCAATCTGGGCATCGT	0.433																																						uc002mda.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(958-960)CTG>TTG		transmembrane protein 146 precursor							88.0	88.0	88.0					19																	5749165		1858	4106	5964	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5749165C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.958C>T	19.37:g.5749165C>T						TMEM146_uc010duj.1_5'UTR	p.L320L	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			11	1019	+			320			Extracellular (Potential).		Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.958C>T	CCDS12149.2																																																																																				0.433	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		13	34	0	0	0	0	13	34				
LPHN1	22859	broad.mit.edu	37	19	14262302	14262302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:14262302G>A	ENST00000340736.6	-	24	4105	c.3808C>T	c.(3808-3810)Cga>Tga	p.R1270*	LPHN1_ENST00000361434.3_Nonsense_Mutation_p.R1265*|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1270					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCCGGCCTCGGGGCGGCTCA	0.637																																						uc010xnn.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(3808-3810)CGA>TGA		latrophilin 1 isoform 1 precursor							25.0	34.0	31.0					19																	14262302		2201	4290	6491	SO:0001587	stop_gained	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14262302G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3808C>T	19.37:g.14262302G>A	ENSP00000340688:p.Arg1270*					LPHN1_uc010xno.1_Nonsense_Mutation_p.R1265*|uc002myf.2_Intron	p.R1270*	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			24	4104	-			1270			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Nonsense_Mutation	SNP	ENST00000340736.6	37	c.3808C>T	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	42	9.725773	0.99248	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	.	.	.	4.47	3.4	0.38934	.	0.371511	0.24766	N	0.035775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	7.5092	0.27564	0.0:0.184:0.6261:0.1899	.	.	.	.	X	1270;1265	.	ENSP00000340688:R1270X	R	-	1	2	LPHN1	14123302	0.955000	0.32602	0.886000	0.34754	0.791000	0.44710	2.336000	0.43938	0.834000	0.34852	0.313000	0.20887	CGA		0.637	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		12	47	0	0	0	0	12	47				
RYR1	6261	broad.mit.edu	37	19	39019003	39019003	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:39019003C>T	ENST00000359596.3	+	74	10882	c.10882C>T	c.(10882-10884)Cgc>Tgc	p.R3628C	RYR1_ENST00000355481.4_Missense_Mutation_p.R3623C|RYR1_ENST00000360985.3_Missense_Mutation_p.R3628C|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3628	Interaction with CALM.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R3628C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTCCAAACAGCGCCGGCGGGC	0.612																																						uc002oit.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(10882-10884)CGC>TGC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						62.0	57.0	59.0					19																	39019003		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39019003C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10882C>T	19.37:g.39019003C>T	ENSP00000352608:p.Arg3628Cys					RYR1_uc002oiu.2_Missense_Mutation_p.R3623C|RYR1_uc002oiv.1_Missense_Mutation_p.R543C|RYR1_uc010xuf.1_Missense_Mutation_p.R548C	p.R3628C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		74	11012	+	all_cancers(60;7.91e-06)		3628					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.10882C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679909	0.47886	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.98419	-4.9;-4.92;-4.89	4.81	4.81	0.61882	.	0.000000	0.64402	U	0.000006	D	0.98966	0.9648	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.993	D	0.99683	1.0999	10	0.87932	D	0	.	16.7942	0.85597	0.0:1.0:0.0:0.0	.	3628;3623;3628	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	C	3628;3623;3628;548	ENSP00000352608:R3628C;ENSP00000347667:R3623C;ENSP00000354254:R3628C	ENSP00000347667:R3623C	R	+	1	0	RYR1	43710843	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.124000	0.42006	2.508000	0.84585	0.561000	0.74099	CGC		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			14	28	0	0	0	0	14	28				
MAP4K1	11184	broad.mit.edu	37	19	39103292	39103292	+	Silent	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:39103292C>A	ENST00000591517.1	-	9	652	c.624G>T	c.(622-624)ctG>ctT	p.L208L	MAP4K1_ENST00000396857.2_Silent_p.L208L|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Silent_p.L208L|MAP4K1_ENST00000589130.1_Silent_p.L204L|MAP4K1_ENST00000423454.2_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTAGCTCGGCCAGTTCGATGG	0.632																																						uc002oix.1		NA																	0				skin(4)|lung(3)|ovary(1)	8						c.(622-624)CTG>CTT		mitogen-activated protein kinase kinase kinase							49.0	55.0	53.0					19																	39103292		2144	4270	6414	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39103292C>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.624G>T	19.37:g.39103292C>A						MAP4K1_uc002oiy.1_Silent_p.L208L|MAP4K1_uc010xug.1_5'UTR	p.L208L	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	732	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		208			Protein kinase.			Silent	SNP	ENST00000591517.1	37	c.624G>T	CCDS59385.1																																																																																				0.632	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		14	47	1	0	6.72e-11	7.52e-11	14	47				
ZC3H4	23211	broad.mit.edu	37	19	47589696	47589696	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:47589696G>C	ENST00000253048.5	-	6	852	c.815C>G	c.(814-816)tCt>tGt	p.S272C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	272	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCCATAGAGCCTCTGCC	0.687																																						uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(814-816)TCT>TGT		zinc finger CCCH-type containing 4							72.0	84.0	80.0					19																	47589696		2020	4164	6184	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47589696G>C	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.815C>G	19.37:g.47589696G>C	ENSP00000253048:p.Ser272Cys					ZC3H4_uc002pgb.1_Intron	p.S272C	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	6	853	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	272			Gly-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.815C>G	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357110	0.41801	.	.	ENSG00000130749	ENST00000253048	T	0.18657	2.2	5.05	5.05	0.67936	.	3.243540	0.00921	N	0.002589	T	0.27594	0.0678	N	0.22421	0.69	0.28320	N	0.922277	D	0.64830	0.994	P	0.51355	0.667	T	0.23511	-1.0186	10	0.59425	D	0.04	.	9.8444	0.41017	0.0942:0.0:0.9058:0.0	.	272	Q9UPT8	ZC3H4_HUMAN	C	272	ENSP00000253048:S272C	ENSP00000253048:S272C	S	-	2	0	ZC3H4	52281536	0.995000	0.38212	0.990000	0.47175	0.975000	0.68041	2.707000	0.47143	2.505000	0.84491	0.609000	0.83330	TCT		0.687	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			10	52	0	0	0	0	10	52				
ATF5	22809	broad.mit.edu	37	19	50436276	50436276	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:50436276G>A	ENST00000423777.2	+	3	1153	c.776G>A	c.(775-777)cGc>cAc	p.R259H	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.R259H|MIR4751_ENST00000578027.1_RNA	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	259	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	TCCGTGGAGCGCGAGATCCAG	0.667																																					GBM(48;768 989 9196 9511 26329)	uc010enq.1		NA																	0				skin(2)	2						c.(775-777)CGC>CAC		activating transcription factor 5							37.0	41.0	40.0					19																	50436276		2202	4300	6502	SO:0001583	missense	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50436276G>A	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.776G>A	19.37:g.50436276G>A	ENSP00000396954:p.Arg259His					ATF5_uc002prd.2_Missense_Mutation_p.R259H	p.R259H	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	4	1343	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	259					B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.776G>A	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618908	0.87460	.	.	ENSG00000169136	ENST00000423777	T	0.54675	0.56	4.54	3.51	0.40186	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.64402	D	0.000002	T	0.66297	0.2775	M	0.61703	1.905	0.52099	D	0.999947	D	0.89917	1.0	D	0.87578	0.998	T	0.65676	-0.6110	10	0.51188	T	0.08	-12.232	10.261	0.43427	0.0985:0.0:0.9015:0.0	.	259	Q9Y2D1	ATF5_HUMAN	H	259	ENSP00000396954:R259H	ENSP00000396954:R259H	R	+	2	0	ATF5	55128088	1.000000	0.71417	0.938000	0.37757	0.918000	0.54935	7.360000	0.79487	0.911000	0.36747	0.448000	0.29417	CGC		0.667	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			6	24	0	0	0	0	6	24				
ZSCAN5B	342933	broad.mit.edu	37	19	56703265	56703265	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:56703265C>T	ENST00000586855.2	-	3	855	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R181Q			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	181					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGCTGCTCTCGGCGGGCCTG	0.642																																						uc010ygh.1		NA																	0				ovary(1)|skin(1)	2						c.(541-543)CGA>CAA		zinc finger and SCAN domain containing 5B							33.0	35.0	34.0					19																	56703265		2202	4300	6502	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56703265C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.542G>A	19.37:g.56703265C>T	ENSP00000466072:p.Arg181Gln						p.R181Q	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			2	542	-			181						Missense_Mutation	SNP	ENST00000586855.2	37	c.542G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	1.537	-0.542817	0.04053	.	.	ENSG00000197213	ENST00000358992	T	0.04970	3.52	1.75	-3.51	0.04696	.	.	.	.	.	T	0.02494	0.0076	N	0.13371	0.34	0.09310	N	1	B	0.24823	0.112	B	0.12156	0.007	T	0.43909	-0.9362	9	0.06625	T	0.88	.	4.9682	0.14102	0.0:0.2628:0.4587:0.2784	.	181	A6NJL1	ZSA5B_HUMAN	Q	181	ENSP00000351883:R181Q	ENSP00000351883:R181Q	R	-	2	0	ZSCAN5B	61395077	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-1.789000	0.01761	-2.175000	0.00771	0.306000	0.20318	CGA		0.642	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		5	19	0	0	0	0	5	19				
ZSCAN18	65982	broad.mit.edu	37	19	58596360	58596360	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:58596360G>A	ENST00000240727.6	-	7	1624	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.R465C|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.R273C|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.R409C	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	409					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCTTCCCGCGGGACAAGCCC	0.731																																						uc002qri.2		NA																	0					0						c.(1225-1227)CGC>TGC		zinc finger and SCAN domain containing 18							10.0	12.0	11.0					19																	58596360		2189	4265	6454	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596360G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1225C>T	19.37:g.58596360G>A	ENSP00000240727:p.Arg409Cys					ZSCAN18_uc002qrj.3_Missense_Mutation_p.R408C|ZSCAN18_uc010yhs.1_Missense_Mutation_p.R273C|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R409C|ZSCAN18_uc010yht.1_Missense_Mutation_p.R465C|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	p.R409C	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1534	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	409					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.1225C>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665848	0.47677	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.07800	3.16;3.16	3.41	-1.73	0.08081	.	1.629800	0.04014	N	0.298673	T	0.07908	0.0198	N	0.19112	0.55	0.09310	N	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	P;P;P;B	0.50754	0.586;0.483;0.649;0.348	T	0.16217	-1.0410	10	0.37606	T	0.19	2.6346	2.5932	0.04847	0.1004:0.157:0.4221:0.3205	.	465;273;408;409	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	C	465;409;273	ENSP00000240727:R409C;ENSP00000392653:R273C	ENSP00000240727:R409C	R	-	1	0	ZSCAN18	63288172	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.145000	0.10265	-0.205000	0.10219	0.561000	0.74099	CGC		0.731	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		4	4	0	0	0	0	4	4				
HADHB	3032	broad.mit.edu	37	2	26502944	26502945	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:26502944_26502945GC>TA	ENST00000317799.5	+	10	998_999	c.894_895GC>TA	c.(892-897)aaGCcc>aaTAcc	p.298_299KP>NT	HADHB_ENST00000537713.1_Missense_Mutation_p.283_284KP>NT|HADHB_ENST00000545822.1_Missense_Mutation_p.276_277KP>NT|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.175_176KP>NT	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	298					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCATCAAGCCCTACGGCAC	0.371																																						uc002rgz.2		NA																	0				ovary(1)|breast(1)	2						c.(892-897)AAGCCC>AATACC		mitochondrial trifunctional protein, beta																																				SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26502944_26502945GC>TA		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	Exception_encountered	2.37:g.26502944_26502945delinsTA	ENSP00000325136:p.K298_P299delinsNT					HADHB_uc010ykv.1_Missense_Mutation_p.276_277KP>NT|HADHB_uc010ykw.1_Missense_Mutation_p.283_284KP>NT|HADHB_uc002rha.2_Missense_Mutation_p.175_176KP>NT|HADHB_uc010ykx.1_Missense_Mutation_p.224_225KP>NT	p.298_299KP>NT	NM_000183	NP_000174	P55084	ECHB_HUMAN			10	1145_1146	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		298_299					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	DNP	ENST00000317799.5	37	c.894_895GC>TA	CCDS1722.1																																																																																				0.371	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		18	82	0	0	0	0	18	82				
SMEK2	57223	broad.mit.edu	37	2	55825607	55825607	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:55825607G>A	ENST00000345102.5	-	4	1167	c.866C>T	c.(865-867)tCt>tTt	p.S289F	SMEK2_ENST00000272313.5_Missense_Mutation_p.S289F|SMEK2_ENST00000407823.3_Missense_Mutation_p.S289F	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	289					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGTAAGAGTAGAAAGAAAATT	0.343																																						uc002rzc.2		NA																	0				skin(1)	1						c.(865-867)TCT>TTT		SMEK homolog 2, suppressor of mek1 isoform 1							60.0	62.0	61.0					2																	55825607		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825607G>A	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.866C>T	2.37:g.55825607G>A	ENSP00000339769:p.Ser289Phe					SMEK2_uc002rzb.2_Missense_Mutation_p.S289F|SMEK2_uc002rzd.2_Missense_Mutation_p.S289F|SMEK2_uc002rza.2_Missense_Mutation_p.S165F	p.S289F	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1241	-			289					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.866C>T	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903060	0.72754	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.50813	0.73;0.73;0.73	5.7	5.7	0.88788	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	M	0.91972	3.26	0.80722	D	1	B;B;B;B	0.28971	0.086;0.046;0.086;0.229	B;B;B;B	0.36922	0.096;0.169;0.096;0.236	T	0.69183	-0.5212	10	0.59425	D	0.04	-11.4223	19.8344	0.96650	0.0:0.0:1.0:0.0	.	289;289;289;289	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	F	289	ENSP00000272313:S289F;ENSP00000385912:S289F;ENSP00000339769:S289F	ENSP00000272313:S289F	S	-	2	0	SMEK2	55679111	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	TCT		0.343	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		9	37	0	0	0	0	9	37				
LOXL3	84695	broad.mit.edu	37	2	74763429	74763429	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:74763429C>T	ENST00000264094.3	-	6	1153	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	LOXL3_ENST00000409249.1_Missense_Mutation_p.R361H|LOXL3_ENST00000409986.1_Missense_Mutation_p.R216H|LOXL3_ENST00000393937.2_Missense_Mutation_p.R216H|LOXL3_ENST00000409549.1_Missense_Mutation_p.R361H	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	361	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTGCCCCATGCGAGCGCCACT	0.642																																						uc002smp.1		NA																	0					0						c.(1081-1083)CGC>CAC		lysyl oxidase-like 3 precursor							104.0	118.0	113.0					2																	74763429		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763429C>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1082G>A	2.37:g.74763429C>T	ENSP00000264094:p.Arg361His					LOXL3_uc002smo.1_5'UTR|LOXL3_uc010ffm.1_Missense_Mutation_p.R361H|LOXL3_uc002smq.1_Missense_Mutation_p.R216H|LOXL3_uc010ffn.1_Missense_Mutation_p.R216H	p.R361H	NM_032603	NP_115992	P58215	LOXL3_HUMAN			6	1154	-			361			SRCR 3.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.1082G>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.704823	0.48412	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	4.95	4.95	0.65309	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.057025	0.64402	D	0.000001	T	0.36663	0.0975	N	0.20574	0.59	0.53005	D	0.99996	P;D;P;D	0.71674	0.657;0.997;0.763;0.998	B;D;B;P	0.70935	0.372;0.971;0.211;0.841	T	0.06844	-1.0804	10	0.10377	T	0.69	.	9.4345	0.38630	0.0:0.9052:0.0:0.0948	.	216;361;216;361	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	H	361;361;216;361;216	ENSP00000264094:R361H;ENSP00000387103:R361H;ENSP00000377512:R216H;ENSP00000386696:R361H;ENSP00000386545:R216H	ENSP00000264094:R361H	R	-	2	0	LOXL3	74616937	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.885000	0.56182	2.726000	0.93360	0.551000	0.68910	CGC		0.642	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		33	130	0	0	0	0	33	130				
TMEM131	23505	broad.mit.edu	37	2	98430838	98430838	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:98430838C>G	ENST00000186436.5	-	14	1534	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	TMEM131_ENST00000425805.2_3'UTR	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	436						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GCAGCATGATCAAATCCCAAA	0.323																																						uc002syh.3		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1306-1308)GAT>CAT		RW1 protein							50.0	46.0	47.0					2																	98430838		1851	4097	5948	SO:0001583	missense	23505					integral to membrane		g.chr2:98430838C>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1306G>C	2.37:g.98430838C>G	ENSP00000186436:p.Asp436His					TMEM131_uc010yvg.1_RNA	p.D436H	NM_015348	NP_056163	Q92545	TM131_HUMAN			14	1535	-			436						Missense_Mutation	SNP	ENST00000186436.5	37	c.1306G>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519971	0.85495	.	.	ENSG00000075568	ENST00000186436	T	0.35236	1.32	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59397	-0.7462	10	0.72032	D	0.01	-20.0917	19.3411	0.94342	0.0:1.0:0.0:0.0	.	436	Q92545	TM131_HUMAN	H	436	ENSP00000186436:D436H	ENSP00000186436:D436H	D	-	1	0	TMEM131	97797270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.131000	0.77243	2.631000	0.89168	0.655000	0.94253	GAT		0.323	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		5	22	0	0	0	0	5	22				
RPL31	6160	broad.mit.edu	37	2	101622470	101622470	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:101622470G>A	ENST00000264258.3	+	4	884	c.283G>A	c.(283-285)Gat>Aat	p.D95N	RPL31_ENST00000409650.1_Missense_Mutation_p.D95N|RPL31_ENST00000409028.4_Missense_Mutation_p.D95N|RPL31_ENST00000409733.1_Missense_Mutation_p.D95N|RPL31_ENST00000409320.3_Missense_Mutation_p.D95N|RPL31_ENST00000409038.1_Missense_Mutation_p.D95N|RPL31_ENST00000409711.1_3'UTR	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	95					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						ACGTAATGAGGATGAAGATTC	0.378																																						uc002taq.3		NA																	0					0						c.(283-285)GAT>AAT		ribosomal protein L31 isoform 1							65.0	61.0	62.0					2																	101622470		2203	4300	6503	SO:0001583	missense	6160				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr2:101622470G>A	X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"""L ribosomal proteins"""	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.283G>A	2.37:g.101622470G>A	ENSP00000264258:p.Asp95Asn					RPL31_uc002tar.3_Missense_Mutation_p.D95N|RPL31_uc010yvu.1_Missense_Mutation_p.D95N|RPL31_uc010yvv.1_Missense_Mutation_p.D95N|RPL31_uc010fiu.1_Missense_Mutation_p.D95N|RPL31_uc002tas.1_Missense_Mutation_p.D95N|RPL31_uc002tat.1_3'UTR	p.D95N	NM_000993	NP_000984	P62899	RL31_HUMAN			4	370	+			95					B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	ENST00000264258.3	37	c.283G>A	CCDS2049.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371178	0.82573	.	.	ENSG00000071082	ENST00000264258;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292	.	.	.	5.14	5.14	0.70334	Ribosomal protein L31e domain (2);	0.000000	0.85682	U	0.000000	D	0.84906	0.5576	M	0.90309	3.105	0.80722	D	1	B;D;B;B;B	0.55605	0.023;0.972;0.056;0.023;0.017	B;D;B;B;B	0.67548	0.108;0.952;0.25;0.169;0.163	D	0.86770	0.1972	9	0.52906	T	0.07	.	18.8133	0.92068	0.0:0.0:1.0:0.0	.	95;95;95;95;95	B7Z4E3;B7Z4C8;B7Z4K2;Q6IRZ0;P62899	.;.;.;.;RL31_HUMAN	N	95	.	ENSP00000264258:D95N	D	+	1	0	RPL31	100988902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.448000	0.97600	2.667000	0.90743	0.563000	0.77884	GAT		0.378	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253182.3	NM_001098577		8	30	0	0	0	0	8	30				
ST6GAL2	84620	broad.mit.edu	37	2	107460350	107460350	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:107460350G>C	ENST00000409382.3	-	2	694	c.84C>G	c.(82-84)atC>atG	p.I28M	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.I28M|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.I28M|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	28					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGGTGAAGTAGATGAAAATCA	0.562																																						uc002tdq.2		NA																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(82-84)ATC>ATG		ST6 beta-galactosamide							40.0	48.0	45.0					2																	107460350		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460350G>C	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.84C>G	2.37:g.107460350G>C	ENSP00000386942:p.Ile28Met					ST6GAL2_uc002tdr.2_Missense_Mutation_p.I28M|ST6GAL2_uc002tds.3_Missense_Mutation_p.I28M	p.I28M	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	203	-			28			Helical; Signal-anchor for type II membrane protein; (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.84C>G	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706358	0.15239	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087;ENST00000419159	T;T;T	0.35236	2.35;2.35;1.32	5.74	2.92	0.33932	.	0.254442	0.47093	D	0.000253	T	0.38558	0.1045	L	0.52573	1.65	0.40435	D	0.979988	D;P	0.53462	0.96;0.808	P;B	0.48921	0.595;0.391	T	0.21965	-1.0230	10	0.66056	D	0.02	-28.2976	10.2033	0.43099	0.2089:0.0:0.7911:0.0	.	28;28	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	M	28	ENSP00000355273:I28M;ENSP00000386942:I28M;ENSP00000387332:I28M	ENSP00000355273:I28M	I	-	3	3	ST6GAL2	106826782	1.000000	0.71417	0.999000	0.59377	0.082000	0.17680	1.911000	0.39937	0.321000	0.23259	-0.140000	0.14226	ATC		0.562	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		7	24	0	0	0	0	7	24				
CFAP221	200373	broad.mit.edu	37	2	120373262	120373262	+	Missense_Mutation	SNP	C	C	T	rs550330366		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:120373262C>T	ENST00000413369.3	+	14	1474	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Missense_Mutation_p.R177W	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GGCACAAAAACGGTTTCAACA	0.388																																						uc002tmb.2		NA																	0					0						c.(529-531)CGG>TGG		primary ciliary dyskinesia protein 1							142.0	121.0	128.0					2																	120373262		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120373262C>T																												ENST00000413369.3:c.1387C>T	2.37:g.120373262C>T	ENSP00000393222:p.Arg463Trp					PCDP1_uc010yyq.1_Missense_Mutation_p.R307W	p.R177W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			15	1621	+	Colorectal(110;0.196)		463						Missense_Mutation	SNP	ENST00000413369.3	37	c.529C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079228	0.36662	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.45276	0.9	4.09	3.13	0.36017	.	0.429783	0.20260	N	0.095883	T	0.53238	0.1784	L	0.49778	1.585	0.18873	N	0.999984	D;D	0.89917	1.0;1.0	D;D	0.75020	0.977;0.985	T	0.31336	-0.9947	10	0.87932	D	0	-5.3549	8.7385	0.34543	0.2936:0.7064:0.0:0.0	.	307;463	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	W	177;463	ENSP00000393222:R463W	ENSP00000295220:R177W	R	+	1	2	AC069154.2	120089732	0.655000	0.27376	0.091000	0.20842	0.322000	0.28314	1.303000	0.33470	2.282000	0.76494	0.557000	0.71058	CGG		0.388	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			3	24	0	0	0	0	3	24				
LRP1B	53353	broad.mit.edu	37	2	141115599	141115599	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:141115599C>A	ENST00000389484.3	-	74	12315	c.11344G>T	c.(11344-11346)Gat>Tat	p.D3782Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3782	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAGTCGATCACACTGGAGA	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11344-11346)GAT>TAT		low density lipoprotein-related protein 1B							162.0	150.0	154.0					2																	141115599		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141115599C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11344G>T	2.37:g.141115599C>A	ENSP00000374135:p.Asp3782Tyr	TSP Lung(27;0.18)					p.D3782Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	74	12316	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3782			Extracellular (Potential).|LDL-receptor class A 32.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11344G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989635	0.74589	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98762	-5.12	5.82	5.82	0.92795	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	H	0.98068	4.14	0.50313	D	0.999867	D	0.89917	1.0	D	0.76071	0.987	D	0.97985	1.0351	10	0.87932	D	0	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	3782	Q9NZR2	LRP1B_HUMAN	Y	3782;3720	ENSP00000374135:D3782Y	ENSP00000374135:D3782Y	D	-	1	0	LRP1B	140832069	1.000000	0.71417	0.890000	0.34922	0.729000	0.41735	4.598000	0.61069	2.751000	0.94390	0.650000	0.86243	GAT		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		21	56	1	0	3.6e-14	4.07e-14	21	56				
ACVR1	90	broad.mit.edu	37	2	158595074	158595074	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:158595074C>G	ENST00000263640.3	-	10	1702	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q	AC019186.1_ENST00000447019.1_lincRNA|ACVR1_ENST00000410057.2_Missense_Mutation_p.E425Q|ACVR1_ENST00000409283.2_Missense_Mutation_p.E425Q|ACVR1_ENST00000434821.1_Missense_Mutation_p.E425Q	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTGTAATCCTCCACTATACCT	0.453																																						uc002tzm.3		NA																	0				ovary(2)|skin(1)	3						c.(1273-1275)GAG>CAG		activin A receptor, type I precursor	Adenosine triphosphate(DB00171)						188.0	163.0	172.0					2																	158595074		2203	4300	6503	SO:0001583	missense	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158595074C>G		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1273G>C	2.37:g.158595074C>G	ENSP00000263640:p.Glu425Gln					ACVR1_uc002tzn.3_Missense_Mutation_p.E425Q|ACVR1_uc010fog.2_Missense_Mutation_p.E425Q	p.E425Q	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	11	1612	-			425			Cytoplasmic (Potential).|Protein kinase.			Missense_Mutation	SNP	ENST00000263640.3	37	c.1273G>C	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267483	0.80469	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.62	3.84	0.44239	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	L	0.28274	0.84	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.92837	0.6285	10	0.87932	D	0	.	10.8269	0.46638	0.0:0.8534:0.0:0.1466	.	425	Q04771	ACVR1_HUMAN	Q	425	ENSP00000263640:E425Q;ENSP00000387273:E425Q;ENSP00000405004:E425Q;ENSP00000387127:E425Q	ENSP00000263640:E425Q	E	-	1	0	ACVR1	158303320	1.000000	0.71417	0.978000	0.43139	0.948000	0.59901	7.818000	0.86416	0.744000	0.32741	-0.150000	0.13652	GAG		0.453	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		15	78	0	0	0	0	15	78				
PLCL1	5334	broad.mit.edu	37	2	198949131	198949131	+	Missense_Mutation	SNP	G	G	A	rs140990771		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:198949131G>A	ENST00000428675.1	+	2	1288	c.890G>A	c.(889-891)cGc>cAc	p.R297H	PLCL1_ENST00000437704.2_Missense_Mutation_p.R199H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	297					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTAACCACCCGCGTGACCGAA	0.373																																						uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(889-891)CGC>CAC		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)	G	HIS/ARG	0,4406		0,0,2203	95.0	97.0	96.0		890	6.0	1.0	2	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLCL1	NM_006226.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	297/1096	198949131	1,13005	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949131G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.890G>A	2.37:g.198949131G>A	ENSP00000402861:p.Arg297His					PLCL1_uc002uuv.3_Missense_Mutation_p.R218H	p.R297H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	1181	+			297					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.890G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	8.338	0.828069	0.16749	0.0	1.16E-4	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.44482	0.92;0.92	6.04	6.04	0.98038	EF-hand-like domain (1);	0.188783	0.34580	N	0.003851	T	0.30230	0.0758	N	0.17082	0.46	0.25093	N	0.990842	B;B	0.26195	0.144;0.038	B;B	0.14023	0.01;0.01	T	0.07616	-1.0763	9	.	.	.	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	297;223	Q15111;B4DYZ4	PLCL1_HUMAN;.	H	297;199	ENSP00000402861:R297H;ENSP00000414138:R199H	.	R	+	2	0	PLCL1	198657376	1.000000	0.71417	0.982000	0.44146	0.853000	0.48598	5.432000	0.66514	2.873000	0.98535	0.561000	0.74099	CGC		0.373	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		19	73	0	0	0	0	19	73				
FAM126B	285172	broad.mit.edu	37	2	201846381	201846381	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:201846381G>A	ENST00000418596.3	-	12	1392	c.1205C>T	c.(1204-1206)tCa>tTa	p.S402L	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	402						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCGAACTACTGAATCTCGAGG	0.488																																						uc002uws.3		NA																	0				ovary(1)	1						c.(1204-1206)TCA>TTA		hypothetical protein LOC285172							106.0	105.0	105.0					2																	201846381		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201846381G>A	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1205C>T	2.37:g.201846381G>A	ENSP00000393667:p.Ser402Leu					FAM126B_uc002uwu.2_Missense_Mutation_p.S376L|FAM126B_uc002uwv.2_Missense_Mutation_p.S402L	p.S402L	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			12	1393	-			402					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.1205C>T	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755727	0.31046	.	.	ENSG00000155744	ENST00000418596	T	0.77877	-1.13	5.76	5.76	0.90799	.	0.360211	0.26939	N	0.021728	T	0.70979	0.3286	L	0.40543	1.245	0.44677	D	0.997669	B;B	0.13594	0.008;0.008	B;B	0.16722	0.016;0.01	T	0.64402	-0.6416	10	0.31617	T	0.26	-6.1036	15.4484	0.75253	0.0:0.1382:0.8618:0.0	.	208;402	B3KUG1;Q8IXS8	.;F126B_HUMAN	L	402	ENSP00000393667:S402L	ENSP00000393667:S402L	S	-	2	0	FAM126B	201554626	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.005000	0.76323	2.718000	0.92993	0.655000	0.94253	TCA		0.488	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		5	33	0	0	0	0	5	33				
FAM126B	285172	broad.mit.edu	37	2	201846438	201846438	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:201846438G>A	ENST00000418596.3	-	12	1335	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	383						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCCTTGGCTGAACGCCCAGT	0.493																																						uc002uws.3		NA																	0				ovary(1)	1						c.(1147-1149)TCA>TTA		hypothetical protein LOC285172							102.0	100.0	101.0					2																	201846438		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201846438G>A	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1148C>T	2.37:g.201846438G>A	ENSP00000393667:p.Ser383Leu					FAM126B_uc002uwu.2_Missense_Mutation_p.S357L|FAM126B_uc002uwv.2_Missense_Mutation_p.S383L	p.S383L	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			12	1336	-			383					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.1148C>T	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432763	0.25813	.	.	ENSG00000155744	ENST00000418596	T	0.77229	-1.08	5.76	5.76	0.90799	.	0.248050	0.37053	N	0.002276	T	0.71829	0.3386	L	0.36672	1.1	0.45852	D	0.998713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.64007	-0.6508	10	0.29301	T	0.29	-3.9185	19.9664	0.97271	0.0:0.0:1.0:0.0	.	189;383	B3KUG1;Q8IXS8	.;F126B_HUMAN	L	383	ENSP00000393667:S383L	ENSP00000393667:S383L	S	-	2	0	FAM126B	201554683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.818000	0.62657	2.718000	0.92993	0.655000	0.94253	TCA		0.493	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		7	34	0	0	0	0	7	34				
CASP8	841	broad.mit.edu	37	2	202131210	202131210	+	Splice_Site	SNP	A	A	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:202131210A>G	ENST00000432109.2	+	3	190	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CASP8_ENST00000264274.9_Start_Codon_SNP_p.M1V|CASP8_ENST00000392259.2_Start_Codon_SNP_p.M1V|CASP8_ENST00000392266.3_Start_Codon_SNP_p.M1V|CASP8_ENST00000392258.3_Start_Codon_SNP_p.M1V|CASP8_ENST00000264275.5_Start_Codon_SNP_p.M1V|CASP8_ENST00000358485.4_Missense_Mutation_p.M60V|CASP8_ENST00000323492.7_Start_Codon_SNP_p.M1V	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	1					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTTAAAAAGATGGACTTCAG	0.398										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(1-3)ATG>GTG		caspase 8 isoform B precursor							52.0	57.0	55.0					2																	202131210		2202	4300	6502	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131210A>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1-1A>G	2.37:g.202131210A>G		HNSCC(4;0.00038)				CASP8_uc010ftc.1_Missense_Mutation_p.M1V|CASP8_uc002uxo.1_Missense_Mutation_p.M1V|CASP8_uc002uxp.1_Missense_Mutation_p.M1V|CASP8_uc002uxq.1_Missense_Mutation_p.M1V|CASP8_uc002uxs.1_Missense_Mutation_p.M1V|CASP8_uc002uxt.1_Missense_Mutation_p.M60V|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.M1V|CASP8_uc002uxw.1_Missense_Mutation_p.M1V|CASP8_uc002uxy.1_Missense_Mutation_p.M1V|CASP8_uc002uxx.1_Missense_Mutation_p.M1V|CASP8_uc010ftf.2_Missense_Mutation_p.M1V	p.M1V	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	210	+			1					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1A>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300480	0.40694	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.46	5.46	0.80206	DEATH-like (2);Death effector (1);	0.445064	0.25135	N	0.032866	D	0.90779	0.7105	.	.	.	0.80722	D	1	D;P;D;D;D;D;P;P;D	0.76494	0.982;0.924;0.999;0.99;0.999;0.997;0.845;0.928;0.999	D;P;D;D;D;P;P;P;D	0.78314	0.961;0.694;0.98;0.93;0.991;0.877;0.646;0.671;0.99	D	0.91847	0.5488	9	0.87932	D	0	.	13.2717	0.60164	1.0:0.0:0.0:0.0	.	1;1;1;1;60;1;1;1;1	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	V	1;1;1;1;1;1;1;1;1;60;1;1;1;1	ENSP00000376091:M1V;ENSP00000264274:M1V;ENSP00000376088:M1V;ENSP00000376094:M1V;ENSP00000412523:M1V;ENSP00000264275:M1V;ENSP00000396869:M1V;ENSP00000376087:M1V;ENSP00000388306:M1V;ENSP00000351273:M60V;ENSP00000397528:M1V;ENSP00000325722:M1V;ENSP00000390641:M1V	ENSP00000264274:M1V	M	+	1	0	CASP8	201839455	1.000000	0.71417	0.765000	0.31456	0.007000	0.05969	6.184000	0.72008	2.047000	0.60756	0.533000	0.62120	ATG		0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Missense_Mutation	8	28	0	0	0	0	8	28				
PIKFYVE	200576	broad.mit.edu	37	2	209194623	209194623	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:209194623G>C	ENST00000264380.4	+	22	3935	c.3777G>C	c.(3775-3777)gaG>gaC	p.E1259D		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1259					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATTTTTAGAGAGATACTGTT	0.318																																						uc002vcz.2		NA																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(3775-3777)GAG>GAC		phosphatidylinositol-3-phosphate 5-kinase type							97.0	100.0	99.0					2																	209194623		2202	4299	6501	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209194623G>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3777G>C	2.37:g.209194623G>C	ENSP00000264380:p.Glu1259Asp					PIKFYVE_uc002vcy.1_Missense_Mutation_p.E1203D	p.E1259D	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			22	3935	+			1259					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3777G>C	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975074	0.53720	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.42131	0.98;0.98	5.77	1.33	0.21861	.	0.000000	0.85682	D	0.000000	T	0.58821	0.2149	M	0.80982	2.52	0.80722	D	1	D;P	0.67145	0.996;0.824	D;B	0.67548	0.952;0.3	T	0.55976	-0.8055	10	0.40728	T	0.16	-17.7292	9.1091	0.36716	0.5593:0.0:0.4407:0.0	.	1259;1203	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	D	1259;835;1203	ENSP00000264380:E1259D;ENSP00000405736:E1203D	ENSP00000264380:E1259D	E	+	3	2	PIKFYVE	208902868	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.617000	0.24359	0.168000	0.19655	0.655000	0.94253	GAG		0.318	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		7	28	0	0	0	0	7	28				
SLC23A3	151295	broad.mit.edu	37	2	220029051	220029051	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:220029051G>C	ENST00000409878.3	-	9	1209	c.1177C>G	c.(1177-1179)Cag>Gag	p.Q393E	SLC23A3_ENST00000396775.3_Silent_p.L189L|SLC23A3_ENST00000295738.7_Missense_Mutation_p.Q276E|SLC23A3_ENST00000455516.2_Missense_Mutation_p.Q401E	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	393					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACTTGCTGAGATCCAGCC	0.542																																						uc010zks.1		NA																	0					0						c.(1177-1179)CAG>GAG		solute carrier family 23 (nucleobase							29.0	31.0	31.0					2																	220029051		2046	4180	6226	SO:0001583	missense	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220029051G>C	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1177C>G	2.37:g.220029051G>C	ENSP00000386473:p.Gln393Glu					NHEJ1_uc002vjq.3_Intron|SLC23A3_uc010zkr.1_Missense_Mutation_p.Q401E|SLC23A3_uc010fwb.2_Missense_Mutation_p.Q276E	p.Q393E	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1288	-		Renal(207;0.0474)	393			Cytoplasmic (Potential).		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	c.1177C>G	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375942	0.42105	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516	T;T;T	0.16324	2.35;2.35;2.35	4.75	3.83	0.44106	.	0.542756	0.17383	N	0.176203	T	0.12518	0.0304	L	0.36672	1.1	0.80722	D	1	B;B;B	0.26400	0.148;0.148;0.029	B;B;B	0.22386	0.039;0.039;0.016	T	0.09228	-1.0684	9	.	.	.	.	8.7344	0.34519	0.1139:0.0:0.8861:0.0	.	393;401;276	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	E	276;393;401	ENSP00000295738:Q276E;ENSP00000386473:Q393E;ENSP00000406546:Q401E	.	Q	-	1	0	SLC23A3	219737295	0.832000	0.29368	1.000000	0.80357	0.984000	0.73092	2.382000	0.44345	1.152000	0.42452	0.655000	0.94253	CAG		0.542	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		2	7	0	0	0	0	2	7				
SPEG	10290	broad.mit.edu	37	2	220344508	220344508	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:220344508C>T	ENST00000312358.7	+	24	5221	c.5089C>T	c.(5089-5091)Cgg>Tgg	p.R1697W	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1697	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCACAGATCCGGGCCTATAT	0.602																																						uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(5089-5091)CGG>TGG		SPEG complex locus							69.0	69.0	69.0					2																	220344508		2032	4193	6225	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220344508C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5089C>T	2.37:g.220344508C>T	ENSP00000311684:p.Arg1697Trp						p.R1697W	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	24	5089	+		Renal(207;0.0183)	1697			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.5089C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705039	0.68615	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.44083	0.93	4.62	4.62	0.57501	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	0.38326	N	0.001723	T	0.65903	0.2736	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70970	-0.4727	10	0.87932	D	0	.	16.7792	0.85559	0.0:1.0:0.0:0.0	.	1697	Q15772	SPEG_HUMAN	W	1697	ENSP00000311684:R1697W	ENSP00000265327:R1697W	R	+	1	2	SPEG	220052752	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.616000	0.67709	2.563000	0.86464	0.655000	0.94253	CGG		0.602	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		5	30	0	0	0	0	5	30				
FARSB	10056	broad.mit.edu	37	2	223494891	223494891	+	Silent	SNP	T	T	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:223494891T>G	ENST00000281828.6	-	9	1052	c.789A>C	c.(787-789)gcA>gcC	p.A263A	FARSB_ENST00000536361.1_Silent_p.A164A	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	263					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GAACTATTTTTGCCTGCAAAG	0.299																																						uc002vne.1		NA																	0				ovary(1)	1						c.(787-789)GCA>GCC		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						84.0	81.0	82.0					2																	223494891		2202	4300	6502	SO:0001819	synonymous_variant	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223494891T>G	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.789A>C	2.37:g.223494891T>G						FARSB_uc010zlq.1_Silent_p.A283A|FARSB_uc002vnf.1_Silent_p.A164A	p.A263A	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	9	824	-		Renal(207;0.0183)	263					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	ENST00000281828.6	37	c.789A>C	CCDS2454.1																																																																																				0.299	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		10	39	0	0	0	0	10	39				
ARMC9	80210	broad.mit.edu	37	2	232081419	232081419	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:232081419G>C	ENST00000349938.4	+	5	611	c.417G>C	c.(415-417)ttG>ttC	p.L139F	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	139						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGGCAGCCTTGAGCCAGACCA	0.458																																						uc002vrq.3		NA																	0				ovary(1)	1						c.(415-417)TTG>TTC		armadillo repeat containing 9							211.0	188.0	196.0					2																	232081419		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232081419G>C	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.417G>C	2.37:g.232081419G>C	ENSP00000258417:p.Leu139Phe					ARMC9_uc002vrp.3_Missense_Mutation_p.L139F	p.L139F	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	5	529	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	139					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.417G>C	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645747	0.67358	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.22743	1.94;1.94	5.5	4.62	0.57501	.	0.157027	0.43110	D	0.000610	T	0.34803	0.0910	M	0.63428	1.95	0.44995	D	0.998011	D	0.62365	0.991	P	0.59012	0.85	T	0.03335	-1.1047	10	0.52906	T	0.07	-14.7678	8.7432	0.34569	0.0755:0.0:0.7736:0.1509	.	139	Q7Z3E5	ARMC9_HUMAN	F	139	ENSP00000258417:L139F;ENSP00000387391:L139F	ENSP00000258417:L139F	L	+	3	2	ARMC9	231789663	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	3.048000	0.49862	2.573000	0.86826	0.655000	0.94253	TTG		0.458	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		20	95	0	0	0	0	20	95				
AGAP1	116987	broad.mit.edu	37	2	236957775	236957775	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:236957775G>A	ENST00000304032.8	+	16	2544	c.1964G>A	c.(1963-1965)gGc>gAc	p.G655D	AGAP1_ENST00000409538.1_Missense_Mutation_p.G867D|AGAP1_ENST00000336665.5_Missense_Mutation_p.G602D|AGAP1_ENST00000428334.2_Missense_Mutation_p.G494D	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	655	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGGAATCTTGGCACCCACCTT	0.557																																						uc002vvs.2		NA																	0				ovary(2)|skin(1)	3						c.(1963-1965)GGC>GAC		centaurin, gamma 2 isoform 1							175.0	152.0	159.0					2																	236957775		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236957775G>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1964G>A	2.37:g.236957775G>A	ENSP00000307634:p.Gly655Asp					AGAP1_uc002vvt.2_Missense_Mutation_p.G602D	p.G655D	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			16	2559	+			655			Arf-GAP.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1964G>A	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.274792|5.274792	0.95459|0.95459	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000418654;ENST00000453371	T;T;T;T|.	0.53640|.	0.61;0.61;0.61;0.61|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.052591|.	0.85682|.	D|.	0.000000|.	D|.	0.91540|.	0.7328|.	H|H	0.99325|0.99325	4.515|4.515	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|.	0.95106|.	0.8234|.	10|.	0.87932|.	D|.	0|.	.|.	19.0581|19.0581	0.93074|0.93074	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	602;655|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	D|X	655;602;867;494|207;56	ENSP00000307634:G655D;ENSP00000338378:G602D;ENSP00000386897:G867D;ENSP00000411824:G494D|.	ENSP00000307634:G655D|.	G|W	+|+	2|3	0|0	AGAP1|AGAP1	236622514|236622514	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	9.722000|9.722000	0.98770|0.98770	2.488000|2.488000	0.83962|0.83962	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.557	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		3	59	0	0	0	0	3	59				
FOXA2	3170	broad.mit.edu	37	20	22563766	22563766	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:22563766G>A	ENST00000377115.4	-	3	277	c.96C>T	c.(94-96)aaC>aaT	p.N32N	FOXA2_ENST00000419308.2_Silent_p.N38N	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	32	Transactivation domain 1. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCAGGCCGGCGTTCATGTTGC	0.667																																						uc002wsn.2		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(94-96)AAC>AAT		forkhead box A2 isoform 2							56.0	62.0	60.0					20																	22563766		2200	4299	6499	SO:0001819	synonymous_variant	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563766G>A	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.96C>T	20.37:g.22563766G>A						FOXA2_uc002wsm.2_Silent_p.N38N	p.N32N	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN			3	286	-	Lung NSC(19;0.188)		32			Transactivation domain 1 (By similarity).		Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	c.96C>T	CCDS13147.1																																																																																				0.667	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			20	79	0	0	0	0	20	79				
BPIFB6	128859	broad.mit.edu	37	20	31620810	31620810	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:31620810G>A	ENST00000349552.1	+	2	118	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	40						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CGCCATGGATGAGAGTCATAT	0.557																																						uc010zuc.1		NA																	0				ovary(1)|pancreas(1)	2						c.(118-120)GAG>AAG		bactericidal/permeability-increasing							100.0	93.0	96.0					20																	31620810		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31620810G>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.118G>A	20.37:g.31620810G>A	ENSP00000344929:p.Glu40Lys					BPIL3_uc010zud.1_5'UTR	p.E40K	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			2	118	+			40						Missense_Mutation	SNP	ENST00000349552.1	37	c.118G>A	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588210	0.86851	.	.	ENSG00000167104	ENST00000349552	T	0.05025	3.51	4.8	4.8	0.61643	.	0.259745	0.26193	N	0.025790	T	0.08891	0.0220	L	0.42245	1.32	0.35395	D	0.791127	P	0.43578	0.811	B	0.43838	0.433	T	0.27938	-1.0059	10	0.35671	T	0.21	.	13.7204	0.62723	0.0:0.0:1.0:0.0	.	40	Q8NFQ5	BPIB6_HUMAN	K	40	ENSP00000344929:E40K	ENSP00000344929:E40K	E	+	1	0	BPIFB6	31084471	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.795000	0.62489	2.394000	0.81467	0.491000	0.48974	GAG		0.557	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		10	50	0	0	0	0	10	50				
PHF20	51230	broad.mit.edu	37	20	34430552	34430552	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:34430552C>G	ENST00000374012.3	+	3	270	c.141C>G	c.(139-141)ttC>ttG	p.F47L	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.F47L			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	47	Tudor 1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TCATCCATTTCAAGCGTTGGA	0.423																																						uc002xek.1		NA																	0				ovary(1)	1						c.(139-141)TTC>TTG		PHD finger protein 20							189.0	152.0	165.0					20																	34430552		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34430552C>G	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.141C>G	20.37:g.34430552C>G	ENSP00000363124:p.Phe47Leu					PHF20_uc002xei.1_Missense_Mutation_p.F47L|PHF20_uc010gfo.1_Missense_Mutation_p.F47L|PHF20_uc002xej.1_5'UTR|PHF20_uc002xel.1_5'UTR	p.F47L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			3	252	+	Breast(12;0.00631)|all_lung(11;0.0145)		47					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.141C>G	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940274	0.52972	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000	T;T;T;T	0.70631	0.13;-0.36;-0.49;-0.5	5.83	3.88	0.44766	Tudor domain (1);	0.054770	0.85682	D	0.000000	T	0.78329	0.4266	M	0.79011	2.435	0.52501	D	0.999953	D	0.60575	0.988	P	0.54544	0.755	T	0.81156	-0.1061	10	0.72032	D	0.01	.	11.0622	0.47955	0.0:0.7995:0.0:0.2005	.	47	Q9BVI0	PHF20_HUMAN	L	47	ENSP00000363124:F47L;ENSP00000410373:F47L;ENSP00000341900:F47L;ENSP00000363112:F47L	ENSP00000341900:F47L	F	+	3	2	PHF20	33893966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.867000	0.27968	1.469000	0.48083	0.563000	0.77884	TTC		0.423	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		14	79	0	0	0	0	14	79				
SLC32A1	140679	broad.mit.edu	37	20	37356976	37356976	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:37356976C>T	ENST00000217420.1	+	2	1535	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	424					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCTACAGCGGCGACGGGCGCC	0.632																																						uc002xjc.2		NA																	0					0						c.(1270-1272)GGC>GGT		solute carrier family 32, member 1	Glycine(DB00145)						27.0	30.0	29.0					20																	37356976		2203	4300	6503	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356976C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1272C>T	20.37:g.37356976C>T							p.G424G	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1535	+		Myeloproliferative disorder(115;0.00878)	424			Lumenal, vesicle (Potential).		Q8N489	Silent	SNP	ENST00000217420.1	37	c.1272C>T	CCDS13307.1																																																																																				0.632	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		8	19	0	0	0	0	8	19				
SERINC3	10955	broad.mit.edu	37	20	43129936	43129936	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:43129936C>T	ENST00000342374.4	-	9	1218	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	SERINC3_ENST00000255175.1_Missense_Mutation_p.R354H|SERINC3_ENST00000541235.1_Missense_Mutation_p.R299H	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	354					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGTGGAAGTGCGGATGCTGGA	0.493																																						uc002xme.2		NA																	0				skin(3)	3						c.(1060-1062)CGC>CAC		tumor differentially expressed protein 1							99.0	81.0	87.0					20																	43129936		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43129936C>T	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1061G>A	20.37:g.43129936C>T	ENSP00000340243:p.Arg354His					SERINC3_uc002xmf.1_Missense_Mutation_p.R354H|SERINC3_uc010ggs.1_Missense_Mutation_p.R347H|SERINC3_uc010zwp.1_Missense_Mutation_p.R299H	p.R354H	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		9	1195	-		Myeloproliferative disorder(115;0.0122)	354			Extracellular (Potential).		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.1061G>A	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269714	0.95429	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.4	5.4	0.78164	.	0.143233	0.64402	D	0.000004	T	0.46073	0.1374	M	0.86502	2.82	0.80722	D	1	D;P	0.54772	0.968;0.951	P;P	0.58928	0.848;0.597	T	0.49184	-0.8966	10	0.56958	D	0.05	.	19.3711	0.94488	0.0:1.0:0.0:0.0	.	354;354	Q53GK8;Q13530	.;SERC3_HUMAN	H	93;354;354;321;299	ENSP00000414197:R93H;ENSP00000255175:R354H;ENSP00000340243:R354H;ENSP00000440966:R299H	ENSP00000255175:R354H	R	-	2	0	SERINC3	42563350	1.000000	0.71417	0.980000	0.43619	0.968000	0.65278	7.516000	0.81772	2.814000	0.96858	0.563000	0.77884	CGC		0.493	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		12	66	0	0	0	0	12	66				
NFATC2	4773	broad.mit.edu	37	20	50158922	50158922	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:50158922C>T	ENST00000396009.3	-	1	336	c.117G>A	c.(115-117)ttG>ttA	p.L39L	NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000610033.1_5'UTR|NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000371564.3_Silent_p.L39L|NFATC2_ENST00000609507.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	39					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGTTCGGATTCAAATACTCAT	0.672																																						uc002xwd.2		NA																	0				ovary(2)	2						c.(115-117)TTG>TTA		nuclear factor of activated T-cells,							23.0	27.0	26.0					20																	50158922		2201	4300	6501	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50158922C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.117G>A	20.37:g.50158922C>T						NFATC2_uc002xwc.2_Silent_p.L39L|NFATC2_uc010zyv.1_5'UTR|NFATC2_uc010zyw.1_5'UTR|NFATC2_uc010zyx.1_Intron|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Intron	p.L39L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			1	337	-	Hepatocellular(150;0.248)		39					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.117G>A	CCDS13437.1																																																																																				0.672	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		6	27	0	0	0	0	6	27				
ZNF831	128611	broad.mit.edu	37	20	57766301	57766301	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr20:57766301C>T	ENST00000371030.2	+	1	227	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	76	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCGCGCCCCGCTAGTGACG	0.716																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(226-228)CCG>CTG		zinc finger protein 831							8.0	9.0	9.0					20																	57766301		1846	4023	5869	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766301C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.227C>T	20.37:g.57766301C>T	ENSP00000360069:p.Pro76Leu						p.P76L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	227	+	all_lung(29;0.0085)		76			Pro-rich.		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.227C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841731	0.32513	.	.	ENSG00000124203	ENST00000371030	T	0.05996	3.36	5.67	4.68	0.58851	.	.	.	.	.	T	0.09512	0.0234	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	P	0.51974	0.686	T	0.19224	-1.0312	9	0.66056	D	0.02	-8.1104	13.2521	0.60057	0.2985:0.7015:0.0:0.0	.	76	Q5JPB2	ZN831_HUMAN	L	76	ENSP00000360069:P76L	ENSP00000360069:P76L	P	+	2	0	ZNF831	57199696	0.319000	0.24607	0.010000	0.14722	0.044000	0.14063	2.937000	0.48979	2.677000	0.91161	0.561000	0.74099	CCG		0.716	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		3	13	0	0	0	0	3	13				
SON	6651	broad.mit.edu	37	21	34925097	34925097	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr21:34925097C>T	ENST00000356577.4	+	3	4035	c.3560C>T	c.(3559-3561)tCa>tTa	p.S1187L	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1187L|SON_ENST00000300278.4_Missense_Mutation_p.S1187L|SON_ENST00000290239.6_Missense_Mutation_p.S1187L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1187					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACTGAGCAGTCAGCATTAACA	0.537																																						uc002yse.1		NA																	0				ovary(4)|skin(2)	6						c.(3559-3561)TCA>TTA		SON DNA-binding protein isoform F							97.0	100.0	99.0					21																	34925097		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34925097C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3560C>T	21.37:g.34925097C>T	ENSP00000348984:p.Ser1187Leu					SON_uc002ysb.1_Missense_Mutation_p.S1187L|SON_uc002ysc.2_Missense_Mutation_p.S1187L|SON_uc002ysd.2_Missense_Mutation_p.S178L|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S178L	p.S1187L	NM_138927	NP_620305	P18583	SON_HUMAN			3	3609	+			1187					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.3560C>T	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.496616|4.496616	0.85069|0.85069	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.19532	.|2.31;2.29;2.27;2.14	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.193207	.|0.25747	.|N	.|0.028569	.|T	.|0.45994	.|0.1370	M|M	0.66939|0.66939	2.045|2.045	0.32930|0.32930	D|D	0.517051|0.517051	.|D;D;B;D;D	.|0.64830	.|0.994;0.99;0.16;0.994;0.994	.|D;D;B;D;D	.|0.74348	.|0.983;0.957;0.087;0.983;0.983	.|T	.|0.57682	.|-0.7769	.|10	.|0.72032	.|D	.|0.01	.|.	16.7237|16.7237	0.85416|0.85416	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1187;1187;868;1187;1187	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	X|L	182|1187	.|ENSP00000348984:S1187L;ENSP00000290239:S1187L;ENSP00000300278:S1187L;ENSP00000371095:S1187L	.|ENSP00000290239:S1187L	Q|S	+|+	1|2	0|0	SON|SON	33846967|33846967	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	4.087000|4.087000	0.57671|0.57671	2.549000|2.549000	0.85964|0.85964	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.537	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		21	83	0	0	0	0	21	83				
PCNT	5116	broad.mit.edu	37	21	47831965	47831965	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr21:47831965T>A	ENST00000359568.5	+	28	6085	c.5978T>A	c.(5977-5979)gTt>gAt	p.V1993D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1993					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTGGAGCCGGTTGTCCCTGAC	0.627																																						uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(5977-5979)GTT>GAT		pericentrin							23.0	26.0	25.0					21																	47831965		2184	4258	6442	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831965T>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5978T>A	21.37:g.47831965T>A	ENSP00000352572:p.Val1993Asp					PCNT_uc002zjj.2_Missense_Mutation_p.V1875D	p.V1993D	NM_006031	NP_006022	O95613	PCNT_HUMAN			28	6085	+	Breast(49;0.112)		1993					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5978T>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	T	0.745	-0.775025	0.02951	.	.	ENSG00000160299	ENST00000359568	T	0.01455	4.87	2.6	-3.48	0.04739	.	.	.	.	.	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48281	-0.9049	9	0.12103	T	0.63	.	0.4537	0.00505	0.426:0.1861:0.1936:0.1943	.	1875;1993	O95613-2;O95613	.;PCNT_HUMAN	D	1993	ENSP00000352572:V1993D	ENSP00000352572:V1993D	V	+	2	0	PCNT	46656393	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.431000	0.00473	-0.726000	0.04895	-1.433000	0.01084	GTT		0.627	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		9	34	0	0	0	0	9	34				
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																						uc002zvn.2		NA																	1	Substitution - Missense(1)		cervix(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(964-966)GAG>AAG		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22127164C>T	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys					MAPK1_uc002zvo.2_Missense_Mutation_p.E322K|MAPK1_uc010gtk.1_Missense_Mutation_p.E278K	p.E322K	NM_002745	NP_002736	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	7	1204	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	322					A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.964G>A	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			10	46	0	0	0	0	10	46				
AP1B1	162	broad.mit.edu	37	22	29738276	29738276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:29738276G>A	ENST00000405198.1	-	11	1565	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000357586.2_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Q512*|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Q512*			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	512					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACCCACCTGAGTGGCCAAA	0.592																																						uc003afj.2		NA																	0				ovary(1)|skin(1)	2						c.(1534-1536)CAG>TAG		adaptor-related protein complex 1 beta 1 subunit							56.0	50.0	52.0					22																	29738276		2203	4300	6503	SO:0001587	stop_gained	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29738276G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1534C>T	22.37:g.29738276G>A	ENSP00000384194:p.Gln512*					AP1B1_uc003afi.2_Nonsense_Mutation_p.Q512*|AP1B1_uc003afk.2_Nonsense_Mutation_p.Q512*|AP1B1_uc003afl.2_Nonsense_Mutation_p.Q512*|AP1B1_uc011ako.1_Nonsense_Mutation_p.Q65*	p.Q512*	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			12	1718	-			512					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Nonsense_Mutation	SNP	ENST00000405198.1	37	c.1534C>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	37	6.029430	0.97216	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-21.1529	19.302	0.94148	0.0:0.0:1.0:0.0	.	.	.	.	X	512	.	ENSP00000319361:Q512X	Q	-	1	0	AP1B1	28068276	1.000000	0.71417	0.987000	0.45799	0.378000	0.30076	9.768000	0.98965	2.654000	0.90174	0.563000	0.77884	CAG		0.592	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		3	18	0	0	0	0	3	18				
LARGE	9215	broad.mit.edu	37	22	33733713	33733713	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:33733713C>T	ENST00000354992.2	-	11	1777	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	LARGE_ENST00000437602.2_Silent_p.L402L|LARGE_ENST00000452586.2_Silent_p.L201L|LARGE_ENST00000397394.2_Silent_p.L402L|LARGE_ENST00000402320.1_Intron|LARGE_ENST00000337431.2_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	402					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCAGGAAGGTCAGGTAGAGGT	0.527																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1204-1206)CTG>CTA		like-glycosyltransferase							97.0	85.0	89.0					22																	33733713		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33733713C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1206G>A	22.37:g.33733713C>T						LARGE_uc011amd.1_Silent_p.L201L|LARGE_uc003ane.3_Silent_p.L402L|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Silent_p.L334L|LARGE_uc011amf.1_Silent_p.L402L|LARGE_uc010gwq.1_RNA	p.L402L	NM_004737	NP_004728	O95461	LARGE_HUMAN			11	1785	-		Lung NSC(1;0.219)	402			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.1206G>A	CCDS13912.1																																																																																				0.527	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		15	25	0	0	0	0	15	25				
SREBF2	6721	broad.mit.edu	37	22	42269956	42269956	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:42269956G>A	ENST00000361204.4	+	5	1188	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	341	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATTGAGAAACGATATCGCTCC	0.478																																						uc003bbi.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1021-1023)CGA>CAA		sterol regulatory element-binding transcription							106.0	85.0	92.0					22																	42269956		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42269956G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1022G>A	22.37:g.42269956G>A	ENSP00000354476:p.Arg341Gln					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	p.R341Q	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			5	1191	+			341			Interaction with LMNA (By similarity).|Cytoplasmic (Potential).|Basic motif.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.1022G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	37	6.183752	0.97357	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	D	0.98280	-4.84	6.17	6.17	0.99709	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99433	1.0936	10	0.87932	D	0	-32.9035	20.8794	0.99867	0.0:0.0:1.0:0.0	.	341	Q12772	SRBP2_HUMAN	Q	341	ENSP00000354476:R341Q	ENSP00000354476:R341Q	R	+	2	0	SREBF2	40599902	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.858000	0.99539	2.941000	0.99782	0.655000	0.94253	CGA		0.478	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		6	24	0	0	0	0	6	24				
CYB5R3	1727	broad.mit.edu	37	22	43019858	43019858	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:43019858C>T	ENST00000352397.5	-	8	922	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	CYB5R3_ENST00000407332.1_Missense_Mutation_p.E201K|CYB5R3_ENST00000396303.3_Missense_Mutation_p.E201K|CYB5R3_ENST00000361740.4_Missense_Mutation_p.E257K|CYB5R3_ENST00000402438.1_Missense_Mutation_p.E201K|CYB5R3_ENST00000407623.3_Missense_Mutation_p.E201K	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	224					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	TTCCTGAGTTCCTCCAGCTCA	0.612																																						uc003bcz.2		NA																	0				skin(1)	1						c.(670-672)GAA>AAA		cytochrome b5 reductase 3 isoform m	NADH(DB00157)						151.0	122.0	132.0					22																	43019858		2203	4300	6503	SO:0001583	missense	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43019858C>T	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.670G>A	22.37:g.43019858C>T	ENSP00000338461:p.Glu224Lys					CYB5R3_uc010gzc.1_Missense_Mutation_p.E98K|CYB5R3_uc003bcw.2_Missense_Mutation_p.E214K|CYB5R3_uc011aps.1_Missense_Mutation_p.E257K|CYB5R3_uc003bcy.2_Missense_Mutation_p.E201K|CYB5R3_uc003bcx.2_Missense_Mutation_p.E201K	p.E224K	NM_000398	NP_000389	P00387	NB5R3_HUMAN			8	754	-			224					B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	c.670G>A	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374657	0.61735	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	4.66	3.64	0.41730	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.89808	0.6822	L	0.52011	1.625	0.80722	D	1	D;B	0.69078	0.997;0.032	D;B	0.68765	0.96;0.058	D	0.88308	0.2954	10	0.36615	T	0.2	-26.6067	12.1268	0.53920	0.0:0.9152:0.0:0.0848	.	257;224	B7Z7L3;P00387	.;NB5R3_HUMAN	K	257;201;224;201;201;201	ENSP00000354468:E257K;ENSP00000379597:E201K;ENSP00000338461:E224K;ENSP00000384834:E201K;ENSP00000384457:E201K;ENSP00000385679:E201K	ENSP00000338461:E224K	E	-	1	0	CYB5R3	41349802	1.000000	0.71417	0.998000	0.56505	0.267000	0.26476	7.272000	0.78516	1.334000	0.45468	0.561000	0.74099	GAA		0.612	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			21	55	0	0	0	0	21	55				
LMF2	91289	broad.mit.edu	37	22	50941937	50941937	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr22:50941937G>A	ENST00000474879.2	-	14	2022	c.2007C>T	c.(2005-2007)gtC>gtT	p.V669V	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000216080.5_Silent_p.V644V|LMF2_ENST00000380796.3_Silent_p.V556V	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	669						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCCCCGCTGACTGGTGCCA	0.672																																						uc003blp.2		NA																	0				breast(1)	1						c.(2005-2007)GTC>GTT		lipase maturation factor 2							11.0	15.0	14.0					22																	50941937		2192	4287	6479	SO:0001819	synonymous_variant	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50941937G>A	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.2007C>T	22.37:g.50941937G>A						LMF2_uc010hba.2_Silent_p.V491V|LMF2_uc003blo.2_Silent_p.V644V	p.V669V	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	14	2038	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	669					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	ENST00000474879.2	37	c.2007C>T	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	G	4.060	0.008932	0.07912	.	.	ENSG00000100258	ENST00000487499	.	.	.	5.23	-1.05	0.10036	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0965	0.14737	0.2652:0.2816:0.4532:0.0	.	.	.	.	X	676	.	.	Q	-	1	0	LMF2	49288803	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.087000	0.14958	0.028000	0.15324	-0.258000	0.10820	CAG		0.672	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		9	24	0	0	0	0	9	24				
LZTFL1	54585	broad.mit.edu	37	3	45879466	45879466	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:45879466C>A	ENST00000296135.6	-	2	255	c.81G>T	c.(79-81)ttG>ttT	p.L27F	LZTFL1_ENST00000536047.1_Missense_Mutation_p.L10F|LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Intron	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	27					establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTTGAGTCTCAAGCCTCTCT	0.403																																						uc003cox.1		NA																	0					0						c.(79-81)TTG>TTT		leucine zipper transcription factor-like 1							74.0	75.0	75.0					3																	45879466		2203	4300	6503	SO:0001583	missense	54585							g.chr3:45879466C>A	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.81G>T	3.37:g.45879466C>A	ENSP00000296135:p.Leu27Phe					LZTFL1_uc003coy.1_Missense_Mutation_p.L10F|LZTFL1_uc011bak.1_Intron	p.L27F	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	2	219	-			27					B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	ENST00000296135.6	37	c.81G>T	CCDS2731.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139353	0.77775	.	.	ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000445698	T;T;T	0.24908	1.83;1.83;1.83	5.49	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	M	0.79123	2.44	0.80722	D	1	P	0.48089	0.905	P	0.49085	0.6	T	0.35251	-0.9796	10	0.39692	T	0.17	-7.2235	14.5703	0.68205	0.0:0.9294:0.0:0.0706	.	27	Q9NQ48	LZTL1_HUMAN	F	27;10;10	ENSP00000296135:L27F;ENSP00000439522:L10F;ENSP00000412240:L10F	ENSP00000296135:L27F	L	-	3	2	LZTFL1	45854470	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.325000	0.33724	1.304000	0.44892	0.655000	0.94253	TTG		0.403	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347		6	51	1	0	0.00198382	0.00206553	6	51				
PTH1R	5745	broad.mit.edu	37	3	46937282	46937282	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:46937282G>A	ENST00000313049.5	+	3	439	c.236G>A	c.(235-237)aGg>aAg	p.R79K	PTH1R_ENST00000430002.2_Missense_Mutation_p.R79K|PTH1R_ENST00000449590.1_Missense_Mutation_p.R79K|PTH1R_ENST00000418619.1_Missense_Mutation_p.R79K|PTH1R_ENST00000490109.1_3'UTR			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	79					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GGGAAGCCCAGGAAAGATAAG	0.547											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cqm.2		NA																	0				breast(1)	1						c.(235-237)AGG>AAG		parathyroid hormone receptor 1 precursor							152.0	115.0	128.0					3																	46937282		2203	4300	6503	SO:0001583	missense	5745	Ollier_disease_/_Maffuci_syndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46937282G>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.236G>A	3.37:g.46937282G>A	ENSP00000321999:p.Arg79Lys		OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	PTH1R_uc003cqn.2_Missense_Mutation_p.R79K	p.R79K	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			5	439	+			79			Extracellular (Potential).		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.236G>A	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	G	7.542	0.660837	0.14645	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.48522	0.81;0.81;0.82;0.81;0.81	4.75	0.3	0.15776	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.14743	0.0356	N	0.00707	-1.245	0.29094	N	0.881894	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	9	0.22109	T	0.4	.	6.5094	0.22214	0.5112:0.0:0.4888:0.0	.	79	Q03431	PTH1R_HUMAN	K	79;79;79;79;79;251	ENSP00000402723:R79K;ENSP00000411424:R79K;ENSP00000400977:R79K;ENSP00000413774:R79K;ENSP00000321999:R79K	ENSP00000321999:R79K	R	+	2	0	PTH1R	46912286	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	0.249000	0.18216	0.168000	0.19655	0.561000	0.74099	AGG		0.547	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		10	23	0	0	0	0	10	23				
SCAP	22937	broad.mit.edu	37	3	47469138	47469138	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:47469138C>G	ENST00000265565.5	-	5	842	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	144					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACAACTCCTCCAAGCTCCTG	0.587																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1		NA																	0				ovary(1)	1						c.(430-432)GAG>CAG		SREBF chaperone protein							57.0	52.0	54.0					3																	47469138		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47469138C>G	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.430G>C	3.37:g.47469138C>G	ENSP00000265565:p.Glu144Gln					SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	p.E144Q	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	5	685	-			144			Lumenal (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.430G>C	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424709	0.83667	.	.	ENSG00000114650	ENST00000339815;ENST00000265565	T	0.80480	-1.38	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	L	0.47190	1.495	0.80722	D	1	B	0.29341	0.242	B	0.37239	0.244	T	0.75900	-0.3154	10	0.34782	T	0.22	-31.8089	18.5917	0.91215	0.0:1.0:0.0:0.0	.	144	Q12770	SCAP_HUMAN	Q	144	ENSP00000265565:E144Q	ENSP00000265565:E144Q	E	-	1	0	SCAP	47444142	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.459000	0.80802	2.719000	0.93026	0.650000	0.86243	GAG		0.587	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		8	25	0	0	0	0	8	25				
CELSR3	1951	broad.mit.edu	37	3	48680426	48680426	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:48680426C>T	ENST00000164024.4	-	29	8660	c.8380G>A	c.(8380-8382)Gag>Aag	p.E2794K	CELSR3_ENST00000544264.1_Missense_Mutation_p.E2799K|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2794					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTGCCTCCTCAGGCGCTGCC	0.627																																						uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(8380-8382)GAG>AAG		cadherin EGF LAG seven-pass G-type receptor 3							42.0	46.0	45.0					3																	48680426		2203	4295	6498	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48680426C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8380G>A	3.37:g.48680426C>T	ENSP00000164024:p.Glu2794Lys					CELSR3_uc003cuf.1_Missense_Mutation_p.E2892K|CELSR3_uc010hkf.2_Missense_Mutation_p.E84K|CELSR3_uc010hkg.2_Missense_Mutation_p.E777K	p.E2794K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	29	8661	-			2794			Cytoplasmic (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8380G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472635	0.84640	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70986	-0.53;-0.52	5.67	5.67	0.87782	.	.	.	.	.	T	0.79167	0.4400	M	0.66939	2.045	0.58432	D	0.999991	P;P;D	0.60575	0.683;0.555;0.988	B;B;P	0.54759	0.213;0.106;0.76	T	0.78112	-0.2331	9	0.40728	T	0.16	.	17.9412	0.89027	0.0:1.0:0.0:0.0	.	2799;2794;2892	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	K	2794;2799	ENSP00000164024:E2794K;ENSP00000445694:E2799K	ENSP00000164024:E2794K	E	-	1	0	CELSR3	48655430	0.996000	0.38824	0.968000	0.41197	0.959000	0.62525	3.544000	0.53640	2.686000	0.91538	0.561000	0.74099	GAG		0.627	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		19	64	0	0	0	0	19	64				
GNAT1	2779	broad.mit.edu	37	3	50230738	50230738	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:50230738G>C	ENST00000433068.1	+	3	246	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	GNAT1_ENST00000232461.3_Missense_Mutation_p.E64Q	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	64					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGAGTGCCTCGAGTTTATCGC	0.587											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cym.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(190-192)GAG>CAG		rod-type transducin alpha subunit							113.0	99.0	104.0					3																	50230738		2203	4300	6503	SO:0001583	missense	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50230738G>C		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.190G>C	3.37:g.50230738G>C	ENSP00000387555:p.Glu64Gln		OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	GNAT1_uc003cyl.2_Missense_Mutation_p.E64Q	p.E64Q	NM_144499	NP_653082	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	306	+			64					Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	c.190G>C	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515628	0.44763	.	.	ENSG00000114349	ENST00000232461;ENST00000433068;ENST00000440836	D;D;D	0.88124	-2.34;-2.34;-2.34	5.33	5.33	0.75918	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.88426	0.6433	L	0.38649	1.16	0.58432	D	0.999999	D	0.76494	0.999	D	0.69824	0.966	T	0.83123	-0.0117	10	0.02654	T	1	.	17.7929	0.88561	0.0:0.0:1.0:0.0	.	64	P11488	GNAT1_HUMAN	Q	64;64;16	ENSP00000232461:E64Q;ENSP00000387555:E64Q;ENSP00000403537:E16Q	ENSP00000232461:E64Q	E	+	1	0	GNAT1	50205742	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.815000	0.86186	2.503000	0.84419	0.561000	0.74099	GAG		0.587	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		18	50	0	0	0	0	18	50				
CACNA1D	776	broad.mit.edu	37	3	53769529	53769529	+	Splice_Site	SNP	C	C	T	rs145327253		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:53769529C>T	ENST00000350061.5	+	20	3261	c.2750C>T	c.(2749-2751)aCg>aTg	p.T917M	CACNA1D_ENST00000288139.4_Splice_Site_p.T937M|CACNA1D_ENST00000422281.2_Splice_Site_p.T917M	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	917					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCCGGAACACGGTAAGTCCC	0.622																																						uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(2749-2751)ACG>ATG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)	C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	54.0	49.0	51.0		2810,2750,2750	4.3	1.0	3	dbSNP_134	51	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	937/2182,917/2138,917/2162	53769529	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53769529C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2751+1C>T	3.37:g.53769529C>T						CACNA1D_uc003dgu.3_Missense_Mutation_p.T937M|CACNA1D_uc003dgy.3_Missense_Mutation_p.T917M|CACNA1D_uc003dgw.3_Missense_Mutation_p.T584M|CACNA1D_uc003dgx.1_Missense_Mutation_p.T65M	p.T917M	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	20	2913	+			917			Extracellular (Potential).|III.		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2750C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245047	0.22796	2.27E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.22	4.33	0.51752	.	0.213333	0.39475	N	0.001349	D	0.93413	0.7899	N	0.24115	0.695	0.80722	D	1	P;P;P;D	0.54047	0.939;0.82;0.68;0.964	B;B;B;P	0.47075	0.335;0.172;0.172;0.536	D	0.91665	0.5345	10	0.46703	T	0.11	.	7.7477	0.28879	0.2688:0.6458:0.0:0.0853	.	917;610;917;937	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	M	917;937;917;610	ENSP00000288133:T917M;ENSP00000288139:T937M;ENSP00000409174:T917M;ENSP00000418014:T610M	ENSP00000288139:T937M	T	+	2	0	CACNA1D	53744569	0.979000	0.34478	0.968000	0.41197	0.332000	0.28634	2.257000	0.43240	2.604000	0.88044	0.555000	0.69702	ACG		0.622	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Missense_Mutation	4	26	0	0	0	0	4	26				
CACNA1D	776	broad.mit.edu	37	3	53839052	53839052	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:53839052C>G	ENST00000350061.5	+	45	6139	c.5628C>G	c.(5626-5628)atC>atG	p.I1876M	CACNA1D_ENST00000288139.4_Missense_Mutation_p.I1896M|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1852M|CACNA1D_ENST00000544977.1_Missense_Mutation_p.I255M	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1876					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGAAACATCGACTCTGAGA	0.537																																						uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(5626-5628)ATC>ATG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						93.0	89.0	91.0					3																	53839052		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53839052C>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5628C>G	3.37:g.53839052C>G	ENSP00000288133:p.Ile1876Met					CACNA1D_uc003dgu.3_Missense_Mutation_p.I1896M|CACNA1D_uc003dgy.3_Missense_Mutation_p.I1852M|CACNA1D_uc003dgw.3_Missense_Mutation_p.I1543M|CACNA1D_uc011bes.1_RNA	p.I1876M	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	45	5791	+			1876			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.5628C>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.546469	0.00926	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	4.66	0.361	0.16107	.	0.494492	0.17498	N	0.172108	T	0.18759	0.0450	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.11372	-1.0590	10	0.44086	T	0.13	.	0.4314	0.00472	0.219:0.1634:0.291:0.3266	.	1852;1569;1876;1896	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	M	1876;1896;1852;1569;255	ENSP00000288133:I1876M;ENSP00000288139:I1896M;ENSP00000409174:I1852M;ENSP00000418014:I1569M;ENSP00000440956:I255M	ENSP00000288139:I1896M	I	+	3	3	CACNA1D	53814092	0.015000	0.18098	0.218000	0.23776	0.011000	0.07611	0.055000	0.14229	0.138000	0.18790	-0.784000	0.03344	ATC		0.537	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		15	36	0	0	0	0	15	36				
MITF	4286	broad.mit.edu	37	3	70014097	70014097	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:70014097G>A	ENST00000448226.2	+	10	1406	c.1279G>A	c.(1279-1281)Gtt>Att	p.V427I	MITF_ENST00000472437.1_Missense_Mutation_p.V369I|MITF_ENST00000314557.6_Missense_Mutation_p.V314I|MITF_ENST00000328528.6_Missense_Mutation_p.V420I|MITF_ENST00000394355.2_Missense_Mutation_p.V396I|MITF_ENST00000352241.4_Missense_Mutation_p.V421I|MITF_ENST00000314589.5_Missense_Mutation_p.V405I|MITF_ENST00000394351.3_Missense_Mutation_p.V320I|MITF_ENST00000531774.1_Missense_Mutation_p.V258I			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	427	DNA binding regulation.				bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GCAAGAACCCGTTCTTGAGAA	0.493			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	uc003dnz.2		NA		Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	Waardenburg syndrome type 2|Tietz syndrome	E			melanoma 		0				ovary(2)	2						c.(1261-1263)GTT>ATT		microphthalmia-associated transcription factor							154.0	131.0	139.0					3																	70014097		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70014097G>A		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1279G>A	3.37:g.70014097G>A	ENSP00000391803:p.Val427Ile					MITF_uc011bgb.1_Missense_Mutation_p.V369I|MITF_uc003doa.2_Missense_Mutation_p.V420I|MITF_uc003dob.2_Missense_Mutation_p.V405I|MITF_uc003dod.2_Missense_Mutation_p.V396I|MITF_uc003doe.2_Missense_Mutation_p.V314I|MITF_uc003dof.2_Missense_Mutation_p.V320I	p.V421I	NM_198159	NP_937802	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	10	1377	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	427			DNA binding regulation.		B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.1261G>A		.	.	.	.	.	.	.	.	.	.	G	10.97	1.500498	0.26861	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	6.17	0.0892	0.14458	.	0.759843	0.13633	N	0.373586	T	0.39835	0.1093	L	0.28115	0.83	0.09310	N	1	B;B;B;B;B;B;B	0.30114	0.269;0.003;0.092;0.261;0.261;0.145;0.004	B;B;B;B;B;B;B	0.22753	0.041;0.002;0.024;0.041;0.041;0.041;0.006	T	0.14309	-1.0477	9	.	.	.	.	5.8181	0.18512	0.3693:0.0:0.5051:0.1257	.	369;320;314;396;405;420;421	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	I	421;427;369;420;405;396;314;320;258	ENSP00000295600:V421I;ENSP00000391803:V427I;ENSP00000418845:V369I;ENSP00000327867:V420I;ENSP00000324443:V405I;ENSP00000377884:V396I;ENSP00000324246:V314I;ENSP00000377880:V320I;ENSP00000435909:V258I	.	V	+	1	0	MITF	70096787	0.035000	0.19736	0.003000	0.11579	0.803000	0.45373	1.063000	0.30567	0.140000	0.18849	0.655000	0.94253	GTT		0.493	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		13	43	0	0	0	0	13	43				
EPHA3	2042	broad.mit.edu	37	3	89390977	89390977	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:89390977C>T	ENST00000336596.2	+	5	1268	c.1043C>T	c.(1042-1044)cCc>cTc	p.P348L	EPHA3_ENST00000452448.2_Missense_Mutation_p.P348L|EPHA3_ENST00000494014.1_Missense_Mutation_p.P348L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	348	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGAGTTGGCCCCTGGACACA	0.433										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1042-1044)CCC>CTC		ephrin receptor EphA3 isoform a precursor							87.0	88.0	87.0					3																	89390977		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390977C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1043C>T	3.37:g.89390977C>T	ENSP00000337451:p.Pro348Leu	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.P348L|EPHA3_uc010hon.1_RNA	p.P348L	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1268	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	348			Extracellular (Potential).|Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1043C>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577646	0.86645	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.62498	0.02;0.02;0.02	5.87	5.87	0.94306	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86535	0.5956	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89220	0.3570	9	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	348;348	P29320;P29320-2	EPHA3_HUMAN;.	L	348	ENSP00000337451:P348L;ENSP00000399926:P348L;ENSP00000419190:P348L	.	P	+	2	0	EPHA3	89473667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CCC		0.433	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		14	36	0	0	0	0	14	36				
TAGLN3	29114	broad.mit.edu	37	3	111732320	111732320	+	Silent	SNP	A	A	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:111732320A>C	ENST00000393917.2	+	5	1074	c.522A>C	c.(520-522)atA>atC	p.I174I	TAGLN3_ENST00000486460.1_Silent_p.I90I|TAGLN3_ENST00000273368.4_Silent_p.I174I|TAGLN3_ENST00000455401.2_Silent_p.I174I|TAGLN3_ENST00000478951.1_Silent_p.I174I	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	174					central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						AGAACGTAATAGGCCTGCAGA	0.577																																						uc003dym.2		NA																	0					0						c.(520-522)ATA>ATC		transgelin 3							78.0	78.0	78.0					3																	111732320		2203	4300	6503	SO:0001819	synonymous_variant	29114				central nervous system development|muscle organ development			g.chr3:111732320A>C	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.522A>C	3.37:g.111732320A>C						TAGLN3_uc003dyl.2_Silent_p.I174I|TAGLN3_uc003dyn.2_Silent_p.I174I|TAGLN3_uc003dyo.2_Silent_p.I174I	p.I174I	NM_001008272	NP_001008273	Q9UI15	TAGL3_HUMAN			5	900	+			174			Calponin-like.		D3DN64|Q96A74	Silent	SNP	ENST00000393917.2	37	c.522A>C	CCDS33816.1																																																																																				0.577	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		22	68	0	0	0	0	22	68				
SLC41A3	54946	broad.mit.edu	37	3	125786954	125786954	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:125786954C>T	ENST00000315891.6	-	2	347	c.109G>A	c.(109-111)Gat>Aat	p.D37N	SLC41A3_ENST00000514023.1_5'UTR|AC117422.1_ENST00000581281.1_RNA|SLC41A3_ENST00000346785.5_Missense_Mutation_p.D37N|SLC41A3_ENST00000360370.4_Missense_Mutation_p.D37N|SLC41A3_ENST00000508835.1_Intron	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGAGCTCCATCTTCTGAGGCT	0.642																																						uc003eij.2		NA																	0					0						c.(109-111)GAT>AAT		solute carrier family 41, member 3 isoform 1							83.0	81.0	82.0					3																	125786954		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125786954C>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.109G>A	3.37:g.125786954C>T	ENSP00000326070:p.Asp37Asn					SLC41A3_uc003eil.2_Missense_Mutation_p.D37N|SLC41A3_uc003eik.2_Missense_Mutation_p.D37N|SLC41A3_uc011bkh.1_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.D37N	p.D37N	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	2	335	-			37					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.109G>A	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845992	0.32606	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000458524;ENST00000315891;ENST00000514677;ENST00000513723;ENST00000512470;ENST00000510651;ENST00000514333;ENST00000507280;ENST00000514891;ENST00000504035;ENST00000509064;ENST00000509452	T;T;T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	3.95	1.95	0.26073	.	0.486350	0.22018	N	0.065767	T	0.22126	0.0533	L	0.39898	1.24	0.09310	N	1	P;P;P;B	0.50156	0.734;0.734;0.932;0.421	B;B;B;B	0.43386	0.321;0.321;0.418;0.107	T	0.07829	-1.0752	10	0.28530	T	0.3	-24.181	6.2675	0.20936	0.2139:0.5787:0.2074:0.0	.	37;37;37;37	A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6	.;.;.;S41A3_HUMAN	N	37	ENSP00000353533:D37N;ENSP00000264471:D37N;ENSP00000326070:D37N;ENSP00000422828:D37N;ENSP00000425373:D37N;ENSP00000421008:D37N;ENSP00000423524:D37N;ENSP00000422458:D37N;ENSP00000422531:D37N;ENSP00000423154:D37N;ENSP00000421940:D37N;ENSP00000424882:D37N;ENSP00000422150:D37N	ENSP00000326070:D37N	D	-	1	0	SLC41A3	127269644	0.128000	0.22383	0.004000	0.12327	0.000000	0.00434	0.866000	0.27954	0.993000	0.38866	-0.165000	0.13383	GAT		0.642	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		26	98	0	0	0	0	26	98				
EIF2A	83939	broad.mit.edu	37	3	150290245	150290245	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:150290245G>C	ENST00000460851.1	+	10	1421	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	EIF2A_ENST00000273435.5_Missense_Mutation_p.E433Q|EIF2A_ENST00000406576.3_Missense_Mutation_p.E377Q|EIF2A_ENST00000383043.3_Missense_Mutation_p.E224Q|SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Missense_Mutation_p.E413Q			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	438					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTACCCAATGAGGAACCTAA	0.358																																						uc003eya.2		NA																	0					0						c.(1312-1314)GAG>CAG		eukaryotic translation initiation factor 2A							83.0	80.0	81.0					3																	150290245		1826	4093	5919	SO:0001583	missense	83939				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding	g.chr3:150290245G>C	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1312G>C	3.37:g.150290245G>C	ENSP00000417229:p.Glu438Gln					SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.E311Q|EIF2A_uc003eyc.2_Missense_Mutation_p.E311Q|EIF2A_uc011bnv.1_Missense_Mutation_p.E413Q|EIF2A_uc011bnw.1_Missense_Mutation_p.E377Q|EIF2A_uc003eyd.2_Missense_Mutation_p.E213Q|uc003eye.1_Intron	p.E438Q	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		10	1328	+		Melanoma(1037;0.0575)	438					A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	c.1312G>C	CCDS46935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.092|1.092	-0.663790|-0.663790	0.03428|0.03428	.|.	.|.	ENSG00000144895|ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043|ENST00000465535	T;T;T;T;T|.	0.43294|.	1.53;1.53;1.54;1.53;0.95|.	6.17|6.17	3.25|3.25	0.37280|0.37280	.|.	0.339314|.	0.34580|.	N|.	0.003854|.	T|T	0.08313|0.08313	0.0207|0.0207	N|N	0.00621|0.00621	-1.32|-1.32	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.004;0.0;0.0|.	B;B;B|.	0.08055|.	0.003;0.001;0.002|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|5	0.02654|.	T|.	1|.	-12.7379|-12.7379	8.2191|8.2191	0.31530|0.31530	0.1315:0.2299:0.6386:0.0|0.1315:0.2299:0.6386:0.0	.|.	377;413;438|.	B4DF96;B4DQ14;Q9BY44|.	.;.;EIF2A_HUMAN|.	Q|I	413;438;377;433;224|211	ENSP00000420537:E413Q;ENSP00000417229:E438Q;ENSP00000385292:E377Q;ENSP00000273435:E433Q;ENSP00000372513:E224Q|.	ENSP00000273435:E433Q|.	E|M	+|+	1|3	0|0	EIF2A|EIF2A	151772935|151772935	1.000000|1.000000	0.71417|0.71417	0.832000|0.832000	0.32986|0.32986	0.724000|0.724000	0.41520|0.41520	4.047000|4.047000	0.57383|0.57383	1.636000|1.636000	0.50526|0.50526	-0.136000|-0.136000	0.14681|0.14681	GAG|ATG		0.358	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		17	62	0	0	0	0	17	62				
YEATS2	55689	broad.mit.edu	37	3	183433041	183433041	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr3:183433041G>A	ENST00000305135.5	+	2	286	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	31					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAAAGCAATTGAGAATTCAGG	0.398																																						uc003fly.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(91-93)GAG>AAG		YEATS domain containing 2							107.0	102.0	104.0					3																	183433041		1842	4092	5934	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183433041G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.91G>A	3.37:g.183433041G>A	ENSP00000306983:p.Glu31Lys						p.E31K	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		2	286	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		31					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.91G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507675	0.85282	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.39997	1.05	5.65	5.65	0.86999	.	0.151157	0.43747	D	0.000525	T	0.42063	0.1186	L	0.43152	1.355	0.52099	D	0.999941	P	0.44429	0.835	B	0.40825	0.341	T	0.42799	-0.9430	10	0.87932	D	0	-26.6305	19.313	0.94199	0.0:0.0:1.0:0.0	.	31	Q9ULM3	YETS2_HUMAN	K	31	ENSP00000306983:E31K	ENSP00000306983:E31K	E	+	1	0	YEATS2	184915735	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.580000	0.82523	2.674000	0.91012	0.467000	0.42956	GAG		0.398	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		13	40	0	0	0	0	13	40				
SH3BP2	6452	broad.mit.edu	37	4	2831567	2831567	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:2831567C>T	ENST00000356331.5	+	8	1195	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	SH3BP2_ENST00000452765.2_Missense_Mutation_p.H312Y|SH3BP2_ENST00000442312.2_Missense_Mutation_p.H340Y|SH3BP2_ENST00000511747.1_Missense_Mutation_p.H312Y|SH3BP2_ENST00000503393.2_Missense_Mutation_p.H369Y|SH3BP2_ENST00000435136.2_Missense_Mutation_p.H312Y	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	312					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GACCCCTGGCCACGGGGCCTG	0.672									Cherubism																													uc003gfi.3		NA																	0				central_nervous_system(1)	1						c.(934-936)CAC>TAC		SH3-domain binding protein 2 isoform a							54.0	57.0	56.0					4																	2831567		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2831567C>T	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.934C>T	4.37:g.2831567C>T	ENSP00000348685:p.His312Tyr					SH3BP2_uc011bvp.1_Missense_Mutation_p.H340Y|SH3BP2_uc003gfj.3_Missense_Mutation_p.H369Y|SH3BP2_uc003gfk.3_Missense_Mutation_p.H312Y|SH3BP2_uc003gfl.3_Missense_Mutation_p.H245Y|SH3BP2_uc003gfm.3_Missense_Mutation_p.H287Y	p.H312Y	NM_001122681	NP_001116153	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	8	1054	+			312					A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.934C>T	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783019	0.16189	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76;-3.76	5.28	4.44	0.53790	.	0.579311	0.17770	N	0.162636	D	0.94288	0.8165	M	0.66939	2.045	0.19300	N	0.999978	P;P;D;P;B	0.53745	0.534;0.936;0.962;0.627;0.337	B;B;P;B;B	0.48840	0.188;0.388;0.592;0.142;0.091	D	0.87173	0.2222	10	0.19590	T	0.45	-9.0387	8.3402	0.32239	0.0:0.8196:0.0:0.1804	.	340;287;287;369;312	B4DT04;Q6ZVU3;Q6ZTK4;D6R919;P78314	.;.;.;.;3BP2_HUMAN	Y	312;340;312;312;369;312	ENSP00000409746:H312Y;ENSP00000388152:H340Y;ENSP00000403231:H312Y;ENSP00000424846:H312Y;ENSP00000422168:H369Y;ENSP00000348685:H312Y	ENSP00000348685:H312Y	H	+	1	0	SH3BP2	2801365	0.001000	0.12720	0.036000	0.18154	0.088000	0.18126	0.992000	0.29667	1.370000	0.46153	0.655000	0.94253	CAC		0.672	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		15	72	0	0	0	0	15	72				
FNIP2	57600	broad.mit.edu	37	4	159789364	159789364	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:159789364C>T	ENST00000264433.6	+	13	1651	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	FNIP2_ENST00000379346.3_Missense_Mutation_p.R549C	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	526					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTACTTTCTCCGTTGCTCTGA	0.498																																						uc003iqe.3		NA																	0					0						c.(1576-1578)CGT>TGT		folliculin interacting protein 2							104.0	105.0	104.0					4																	159789364		2040	4194	6234	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159789364C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1576C>T	4.37:g.159789364C>T	ENSP00000264433:p.Arg526Cys						p.R526C	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	1759	+	all_hematologic(180;0.24)		526					Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.1576C>T	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	35	5.564700	0.96527	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.65549	-0.16;-0.16;-0.16	5.99	5.99	0.97316	.	.	.	.	.	T	0.81069	0.4746	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79359	-0.1836	8	.	.	.	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	526	Q9P278	FNIP2_HUMAN	C	526;549;549	ENSP00000264433:R526C;ENSP00000421488:R549C;ENSP00000368651:R549C	.	R	+	1	0	FNIP2	160008814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.865000	0.62998	2.840000	0.97914	0.655000	0.94253	CGT		0.498	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		19	76	0	0	0	0	19	76				
TARS	6897	broad.mit.edu	37	5	33453512	33453512	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:33453512C>G	ENST00000265112.3	+	4	759	c.448C>G	c.(448-450)Cag>Gag	p.Q150E	TARS_ENST00000541634.1_Missense_Mutation_p.Q46E|TARS_ENST00000502553.1_Missense_Mutation_p.Q150E|TARS_ENST00000414361.2_Intron|TARS_ENST00000455217.2_Missense_Mutation_p.Q183E	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	150					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGAGGAAGCTCAGGCAGTAAG	0.438																																						uc003jhy.2		NA																	0				ovary(2)	2						c.(448-450)CAG>GAG		threonyl-tRNA synthetase	L-Threonine(DB00156)						107.0	110.0	109.0					5																	33453512		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33453512C>G	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.448C>G	5.37:g.33453512C>G	ENSP00000265112:p.Gln150Glu					TARS_uc011cob.1_Missense_Mutation_p.Q138E|TARS_uc010iup.1_Missense_Mutation_p.Q91E|TARS_uc011coc.1_Missense_Mutation_p.Q171E|TARS_uc003jhz.2_Missense_Mutation_p.Q46E|TARS_uc011cod.1_Intron	p.Q150E	NM_152295	NP_689508	P26639	SYTC_HUMAN			4	743	+			150					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.448C>G	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003476	0.35320	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	5.78	4.92	0.64577	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.11623	0.0283	M	0.70595	2.14	0.80722	D	1	B;B;B	0.17268	0.021;0.02;0.021	B;B;B	0.20577	0.019;0.03;0.019	T	0.01795	-1.1272	10	0.66056	D	0.02	-34.9677	14.7925	0.69854	0.0:0.9309:0.0:0.0691	.	183;46;150	B4DEG8;G3XAN9;P26639	.;.;SYTC_HUMAN	E	150;150;46;183	ENSP00000424387:Q150E;ENSP00000265112:Q150E;ENSP00000438469:Q46E;ENSP00000387710:Q183E	ENSP00000265112:Q150E	Q	+	1	0	TARS	33489269	1.000000	0.71417	0.990000	0.47175	0.030000	0.12068	6.082000	0.71318	1.471000	0.48121	-0.225000	0.12378	CAG		0.438	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		28	84	0	0	0	0	28	84				
SLC25A46	91137	broad.mit.edu	37	5	110097165	110097165	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:110097165T>C	ENST00000355943.3	+	8	1066	c.940T>C	c.(940-942)Ttt>Ctt	p.F314L	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Missense_Mutation_p.F152L|SLC25A46_ENST00000504098.1_Missense_Mutation_p.F168L|SLC25A46_ENST00000509442.2_Missense_Mutation_p.F223L|SLC25A46_ENST00000447245.2_Missense_Mutation_p.F233L|SLC25A46_ENST00000509432.1_Missense_Mutation_p.F101L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	314					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGATGCTTATTTTCCAGAACT	0.408																																						uc003koz.2		NA																	0					0						c.(940-942)TTT>CTT		solute carrier family 25, member 46							272.0	266.0	268.0					5																	110097165		2202	4300	6502	SO:0001583	missense	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110097165T>C	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.940T>C	5.37:g.110097165T>C	ENSP00000348211:p.Phe314Leu					SLC25A46_uc011cvi.1_Missense_Mutation_p.F223L	p.F314L	NM_138773	NP_620128	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	1007	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	314			Solcar 2.|Helical; Name=5; (Potential).		A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	c.940T>C	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.774448	0.70107	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098;ENST00000509432	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.87	4.69	0.59074	Mitochondrial carrier domain (2);	0.043580	0.85682	N	0.000000	T	0.80854	0.4703	L	0.39566	1.225	0.58432	D	0.999995	D;D	0.76494	0.999;0.996	D;D	0.83275	0.996;0.932	T	0.75468	-0.3307	10	0.10636	T	0.68	-16.3989	13.1835	0.59668	0.0:0.0:0.1333:0.8667	.	223;314	B4DY98;Q96AG3	.;S2546_HUMAN	L	152;223;314;168;233;168;101	ENSP00000421134:F152L;ENSP00000424136:F223L;ENSP00000348211:F314L;ENSP00000399717:F233L;ENSP00000425708:F168L;ENSP00000426604:F101L	ENSP00000348211:F314L	F	+	1	0	SLC25A46	110125064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.237000	0.78164	1.021000	0.39600	0.528000	0.53228	TTT		0.408	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		41	180	0	0	0	0	41	180				
BRD8	10902	broad.mit.edu	37	5	137500615	137500615	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:137500615C>T	ENST00000254900.5	-	12	1890	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	BRD8_ENST00000402931.1_Missense_Mutation_p.E507K|BRD8_ENST00000455658.2_Missense_Mutation_p.E466K|BRD8_ENST00000230901.5_Missense_Mutation_p.E580K|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000411594.2_Missense_Mutation_p.E510K	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	507					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCTTGATCTCTGCACTGGGC	0.512																																						uc003lcf.1		NA																	0				ovary(1)	1						c.(1519-1521)GAG>AAG		bromodomain containing 8 isoform 2							205.0	181.0	189.0					5																	137500615		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137500615C>T	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1519G>A	5.37:g.137500615C>T	ENSP00000254900:p.Glu507Lys					BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.E286K|BRD8_uc003lcg.2_Missense_Mutation_p.E580K|BRD8_uc003lci.2_Missense_Mutation_p.E510K|BRD8_uc003lch.2_Missense_Mutation_p.E401K|BRD8_uc011cym.1_Missense_Mutation_p.E491K|BRD8_uc010jer.1_Missense_Mutation_p.E476K|BRD8_uc011cyn.1_Missense_Mutation_p.E466K	p.E507K	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		12	1574	-			507					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.1519G>A	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963954	0.53507	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658	T;T;T;T;T;T;T	0.36157	1.62;1.27;1.28;1.42;1.41;1.27;1.4	5.55	5.55	0.83447	.	0.265194	0.43747	D	0.000530	T	0.31451	0.0797	L	0.27053	0.805	0.47659	D	0.999488	P;B;B;P;B;B;P;B	0.40834	0.73;0.411;0.047;0.489;0.437;0.437;0.623;0.133	B;B;B;B;B;B;B;B	0.38954	0.286;0.103;0.008;0.137;0.188;0.187;0.267;0.078	T	0.12142	-1.0559	10	0.72032	D	0.01	-0.056	18.6837	0.91556	0.0:1.0:0.0:0.0	.	466;491;286;580;510;401;580;507	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	K	507;536;505;580;507;510;401;466	ENSP00000254900:E507K;ENSP00000398067:E536K;ENSP00000398873:E505K;ENSP00000230901:E580K;ENSP00000384845:E507K;ENSP00000394330:E510K;ENSP00000408396:E466K	ENSP00000230901:E580K	E	-	1	0	BRD8	137528514	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.362000	0.59467	2.894000	0.99253	0.591000	0.81541	GAG		0.512	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		18	85	0	0	0	0	18	85				
PCDHA4	56144	broad.mit.edu	37	5	140188125	140188125	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:140188125C>T	ENST00000530339.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.N451N|PCDHA4_ENST00000356878.4_Silent_p.N451N|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCTCCGGCGT	0.647																																						uc003lhi.2		NA																	0				ovary(4)|skin(2)	6						c.(1351-1353)AAC>AAT		protocadherin alpha 4 isoform 1 precursor							78.0	79.0	79.0					5																	140188125		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188125C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1353C>T	5.37:g.140188125C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.N451N|PCDHA4_uc011daa.1_Silent_p.N451N	p.N451N	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1454	+			451			Cadherin 4.|Extracellular (Potential).		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1353C>T	CCDS54916.1																																																																																				0.647	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		23	74	0	0	0	0	23	74				
ATP10B	23120	broad.mit.edu	37	5	160059205	160059205	+	Silent	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:160059205G>T	ENST00000327245.5	-	13	2397	c.1551C>A	c.(1549-1551)ggC>ggA	p.G517G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	517					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGGTAGTGGCCCTGGATGG	0.567																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1549-1551)GGC>GGA		ATPase, class V, type 10B							52.0	55.0	54.0					5																	160059205		1928	4132	6060	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160059205G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1551C>A	5.37:g.160059205G>T						ATP10B_uc003lyn.2_Silent_p.G75G	p.G517G	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	2398	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	517			Cytoplasmic (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.1551C>A	CCDS43394.1																																																																																				0.567	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		7	43	1	0	2.77e-08	3.04e-08	7	43				
GPRIN1	114787	broad.mit.edu	37	5	176025708	176025708	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr5:176025708C>G	ENST00000303991.4	-	2	1305	c.1128G>C	c.(1126-1128)aaG>aaC	p.K376N		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	376					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGGTCCATCTTTCCCAGGA	0.542																																						uc003meo.1		NA																	0				ovary(2)	2						c.(1126-1128)AAG>AAC		G protein-regulated inducer of neurite outgrowth							60.0	57.0	58.0					5																	176025708		2203	4300	6503	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176025708C>G	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1128G>C	5.37:g.176025708C>G	ENSP00000305839:p.Lys376Asn						p.K376N	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1303	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	376					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.1128G>C	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078128	0.55753	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.14516	2.5	4.75	1.88	0.25563	.	0.571237	0.14667	N	0.305606	T	0.11707	0.0285	L	0.55834	1.745	0.18873	N	0.999984	P	0.41102	0.738	B	0.38562	0.276	T	0.17745	-1.0359	10	0.22706	T	0.39	0.2908	6.0993	0.20039	0.0:0.6603:0.1581:0.1816	.	376	Q7Z2K8	GRIN1_HUMAN	N	376	ENSP00000305839:K376N	ENSP00000305839:K376N	K	-	3	2	GPRIN1	175958314	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.205000	0.09411	0.517000	0.28361	0.455000	0.32223	AAG		0.542	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		9	48	0	0	0	0	9	48				
GCM2	9247	broad.mit.edu	37	6	10876748	10876748	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:10876748G>C	ENST00000379491.4	-	3	533	c.386C>G	c.(385-387)cCt>cGt	p.P129R	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	129					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CCCTCGACAAGGAATCAACTC	0.493																																						uc003mzn.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(385-387)CCT>CGT		glial cells missing homolog 2							101.0	86.0	91.0					6																	10876748		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10876748G>C	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.386C>G	6.37:g.10876748G>C	ENSP00000368805:p.Pro129Arg					SYCP2L_uc011dim.1_Intron	p.P129R	NM_004752	NP_004743	O75603	GCM2_HUMAN			3	458	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	129			GCM.		D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.386C>G	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030773	0.93575	.	.	ENSG00000124827	ENST00000379491	T	0.75050	-0.9	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.84206	0.5421	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.83842	0.0258	10	0.52906	T	0.07	-14.6022	19.8215	0.96599	0.0:0.0:1.0:0.0	.	129	O75603	GCM2_HUMAN	R	129	ENSP00000368805:P129R	ENSP00000368805:P129R	P	-	2	0	GCM2	10984734	1.000000	0.71417	0.964000	0.40570	0.983000	0.72400	7.514000	0.81750	2.679000	0.91253	0.650000	0.86243	CCT		0.493	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			16	18	0	0	0	0	16	18				
HIST1H3J	8356	broad.mit.edu	37	6	27858539	27858539	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:27858539G>T	ENST00000359303.2	-	1	31	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	11					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GCCGCCGGTAGACTTGCGAGC	0.582																																						uc003nka.2		NA																	0				ovary(1)	1						c.(31-33)TCT>TAT		histone cluster 1, H3j							30.0	33.0	32.0					6																	27858539		2195	4291	6486	SO:0001583	missense	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858539G>T	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.32C>A	6.37:g.27858539G>T	ENSP00000352252:p.Ser11Tyr					HIST1H2BO_uc003nkc.1_5'Flank	p.S11Y	NM_003535	NP_003526	P68431	H31_HUMAN			1	32	-			11					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	c.32C>A	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798997	0.31777	.	.	ENSG00000197153	ENST00000359303	T	0.47869	0.83	4.06	4.06	0.47325	.	.	.	.	.	T	0.56891	0.2016	.	.	.	0.50632	D	0.999887	.	.	.	.	.	.	T	0.62374	-0.6868	6	0.87932	D	0	.	16.036	0.80628	0.0:0.0:1.0:0.0	.	.	.	.	Y	11	ENSP00000352252:S11Y	ENSP00000352252:S11Y	S	-	2	0	HIST1H3J	27966518	1.000000	0.71417	0.999000	0.59377	0.398000	0.30690	9.184000	0.94893	2.560000	0.86352	0.655000	0.94253	TCT		0.582	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		5	34	1	0	8.13e-05	8.62e-05	5	34				
NOTCH4	4855	broad.mit.edu	37	6	32166457	32166457	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:32166457G>C	ENST00000375023.3	-	25	4724	c.4586C>G	c.(4585-4587)tCa>tGa	p.S1529*	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1529					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCAGGGCCTGAGCACATCAC	0.542																																						uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(4585-4587)TCA>TGA		notch4 preproprotein							95.0	62.0	73.0					6																	32166457		1511	2709	4220	SO:0001587	stop_gained	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32166457G>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4586C>G	6.37:g.32166457G>C	ENSP00000364163:p.Ser1529*					NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Nonsense_Mutation_p.S192*|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	p.S1529*	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			25	4725	-			1529			Cytoplasmic (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Nonsense_Mutation	SNP	ENST00000375023.3	37	c.4586C>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	45	11.868921	0.99612	.	.	ENSG00000204301	ENST00000375023	.	.	.	5.16	4.28	0.50868	.	0.000000	0.37483	N	0.002072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	9.3538	0.38153	0.0966:0.0:0.9034:0.0	.	.	.	.	X	1529	.	ENSP00000364163:S1529X	S	-	2	0	NOTCH4	32274435	0.987000	0.35691	0.950000	0.38849	0.994000	0.84299	2.684000	0.46951	1.403000	0.46800	0.561000	0.74099	TCA		0.542	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			6	27	0	0	0	0	6	27				
PHF1	5252	broad.mit.edu	37	6	33382536	33382536	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33382536T>A	ENST00000374516.3	+	11	1250	c.979T>A	c.(979-981)Tgt>Agt	p.C327S	PHF1_ENST00000374512.3_Missense_Mutation_p.C327S	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	327					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GAAGAGGAAATGTTTGTTTGG	0.512											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003oeh.2		NA																	0					0						c.(979-981)TGT>AGT		PHD finger protein 1 isoform b							125.0	117.0	120.0					6																	33382536		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382536T>A	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.979T>A	6.37:g.33382536T>A	ENSP00000363640:p.Cys327Ser		OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.C327S|PHF1_uc010jux.2_Missense_Mutation_p.C127S	p.C327S	NM_024165	NP_077084	O43189	PHF1_HUMAN			11	1215	+		Ovarian(999;0.0443)	327					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.979T>A	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473333	0.26423	.	.	ENSG00000112511	ENST00000374512;ENST00000374516	T;T	0.22743	1.97;1.94	5.4	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.05960	0.0155	L	0.38175	1.15	0.43021	D	0.99457	B;P	0.47409	0.302;0.895	B;B	0.41332	0.171;0.354	T	0.13255	-1.0516	10	0.09338	T	0.73	-16.2392	9.5612	0.39371	0.0:0.0827:0.0:0.9173	.	327;327	O43189-2;O43189	.;PHF1_HUMAN	S	327	ENSP00000363636:C327S;ENSP00000363640:C327S	ENSP00000363636:C327S	C	+	1	0	PHF1	33490514	1.000000	0.71417	0.962000	0.40283	0.989000	0.77384	2.223000	0.42936	1.059000	0.40554	0.454000	0.30748	TGT		0.512	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			23	115	0	0	0	0	23	115				
SYNGAP1	8831	broad.mit.edu	37	6	33403058	33403058	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33403058C>G	ENST00000418600.2	+	6	740	c.639C>G	c.(637-639)atC>atG	p.I213M	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.I154M|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.I213M	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	213	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ACAGCTCCATCCTGGGCCAGG	0.552																																						uc011dri.1		NA																	0				ovary(4)	4						c.(637-639)ATC>ATG		synaptic Ras GTPase activating protein 1							95.0	87.0	90.0					6																	33403058		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33403058C>G	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.639C>G	6.37:g.33403058C>G	ENSP00000403636:p.Ile213Met					SYNGAP1_uc003oeo.1_Missense_Mutation_p.I198M|SYNGAP1_uc010juy.2_Missense_Mutation_p.I198M|SYNGAP1_uc010juz.2_5'Flank	p.I213M	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			6	834	+			213			PH.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.639C>G	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220964	0.58560	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.93076	-3.16;-3.16;-3.16	4.42	1.55	0.23275	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.228496	0.41097	D	0.000946	D	0.94138	0.8120	M	0.80746	2.51	0.54753	D	0.999981	D;D;D	0.69078	0.995;0.997;0.997	P;D;D	0.70487	0.88;0.944;0.969	D	0.92745	0.6211	10	0.87932	D	0	.	7.5015	0.27520	0.0:0.6894:0.0:0.3106	.	213;213;213	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	M	213;213;213;154	ENSP00000293748:I213M;ENSP00000403636:I213M;ENSP00000412475:I154M	ENSP00000293748:I213M	I	+	3	3	SYNGAP1	33511036	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	2.015000	0.40961	0.103000	0.17682	0.591000	0.81541	ATC		0.552	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		24	43	0	0	0	0	24	43				
PPP2R5D	5528	broad.mit.edu	37	6	42975737	42975737	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:42975737G>A	ENST00000485511.1	+	7	970	c.791G>A	c.(790-792)cGc>cAc	p.R264H	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R232H|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R158H|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R256H	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	264					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R264H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATTTTGCATCGCATCTATGGC	0.542																																					Melanoma(63;587 1613 29742 31770)	uc003oth.2		NA																	1	Substitution - Missense(1)		endometrium(1)	breast(1)|central_nervous_system(1)	2						c.(790-792)CGC>CAC		delta isoform of regulatory subunit B56, protein							121.0	116.0	118.0					6																	42975737		2203	4300	6503	SO:0001583	missense	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42975737G>A	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.791G>A	6.37:g.42975737G>A	ENSP00000417963:p.Arg264His					MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.R232H|PPP2R5D_uc010jyd.2_Missense_Mutation_p.R158H|PPP2R5D_uc011dva.1_Missense_Mutation_p.R113H|PPP2R5D_uc003oti.2_Missense_Mutation_p.R113H|PPP2R5D_uc003otj.2_Missense_Mutation_p.R113H	p.R264H	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		7	877	+			264					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	c.791G>A	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251649	0.95305	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010	T;T;T;T	0.57107	0.42;0.45;0.43;0.5	5.84	5.84	0.93424	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.993	D	0.86131	0.1575	10	0.87932	D	0	-18.7245	20.1551	0.98106	0.0:0.0:1.0:0.0	.	158;264;264;232	Q14738-3;F5GYS1;Q14738;Q14738-2	.;.;2A5D_HUMAN;.	H	264;232;256;264;158	ENSP00000417963:R264H;ENSP00000377669:R232H;ENSP00000420550:R256H;ENSP00000420674:R158H	ENSP00000377669:R232H	R	+	2	0	PPP2R5D	43083715	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.760000	0.94817	0.655000	0.94253	CGC		0.542	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		21	97	0	0	0	0	21	97				
PTK7	5754	broad.mit.edu	37	6	43109979	43109979	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:43109979C>T	ENST00000230419.4	+	13	2210	c.1989C>T	c.(1987-1989)acC>acT	p.T663T	PTK7_ENST00000481273.1_Silent_p.T671T|PTK7_ENST00000349241.2_Silent_p.T533T|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Silent_p.T623T	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	663	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCCGCTACACCTGCATTGCAG	0.607																																						uc003oub.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(1987-1989)ACC>ACT		PTK7 protein tyrosine kinase 7 isoform a							71.0	64.0	67.0					6																	43109979		2203	4300	6503	SO:0001819	synonymous_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109979C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1989C>T	6.37:g.43109979C>T						PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.T623T|PTK7_uc003oue.1_Silent_p.T533T|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.T671T|PTK7_uc010jyj.1_Intron	p.T663T	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		13	2187	+			663			Ig-like C2-type 7.|Extracellular (Potential).		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.1989C>T	CCDS4884.1																																																																																				0.607	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			24	26	0	0	0	0	24	26				
CUL9	23113	broad.mit.edu	37	6	43173028	43173028	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:43173028G>A	ENST00000252050.4	+	24	4744	c.4660G>A	c.(4660-4662)Gac>Aac	p.D1554N	CUL9_ENST00000354495.3_Missense_Mutation_p.D1444N|CUL9_ENST00000372647.2_Missense_Mutation_p.D1554N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1554					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGGTACATTGACCAACAGAT	0.567																																						uc003ouk.2		NA																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(4660-4662)GAC>AAC		p53-associated parkin-like cytoplasmic protein							175.0	176.0	176.0					6																	43173028		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43173028G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4660G>A	6.37:g.43173028G>A	ENSP00000252050:p.Asp1554Asn					CUL9_uc003oul.2_Missense_Mutation_p.D1554N|CUL9_uc010jyk.2_Missense_Mutation_p.D706N	p.D1554N	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			24	4735	+			1554					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4660G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	36	5.607948	0.96626	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	D;D;D	0.86432	-2.12;-2.12;-2.12	5.74	5.74	0.90152	Cullin, N-terminal (1);Cullin homology (2);	0.095395	0.64402	D	0.000001	D	0.92721	0.7686	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92762	0.6225	10	0.87932	D	0	-23.4009	19.919	0.97077	0.0:0.0:1.0:0.0	.	1444;1554;1554	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	N	1554;1444;1554	ENSP00000252050:D1554N;ENSP00000346490:D1444N;ENSP00000361730:D1554N	ENSP00000252050:D1554N	D	+	1	0	CUL9	43281006	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.397000	0.97276	2.712000	0.92718	0.561000	0.74099	GAC		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		43	215	0	0	0	0	43	215				
MCM9	254394	broad.mit.edu	37	6	119245037	119245037	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:119245037G>C	ENST00000316316.6	-	3	846	c.560C>G	c.(559-561)tCa>tGa	p.S187*	MCM9_ENST00000316068.3_Nonsense_Mutation_p.S187*	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	187					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S187*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AGACAAGCCTGAGAGGCAAGT	0.418																																						uc003pyh.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(559-561)TCA>TGA		minichromosome maintenance complex component 9							102.0	97.0	98.0					6																	119245037		2203	4300	6503	SO:0001587	stop_gained	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119245037G>C	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.560C>G	6.37:g.119245037G>C	ENSP00000314505:p.Ser187*						p.S187*	NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	3	823	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	187					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Nonsense_Mutation	SNP	ENST00000316316.6	37	c.560C>G	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	39	7.525236	0.98339	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	19.7747	0.96386	0.0:0.0:1.0:0.0	.	.	.	.	X	187	.	ENSP00000312870:S187X	S	-	2	0	MCM9	119286736	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	9.055000	0.93873	2.668000	0.90789	0.563000	0.77884	TCA		0.418	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		14	57	0	0	0	0	14	57				
NKAIN2	154215	broad.mit.edu	37	6	124676415	124676415	+	Silent	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:124676415T>C	ENST00000368417.1	+	3	255	c.195T>C	c.(193-195)taT>taC	p.Y65Y	NKAIN2_ENST00000545433.1_Silent_p.Y50Y|NKAIN2_ENST00000546092.1_Silent_p.Y65Y|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000368416.1_Silent_p.Y65Y	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CTCTACAGTATGCTGTCTGGC	0.373																																						uc003pzo.2		NA																	0					0						c.(193-195)TAT>TAC		T-cell lymphoma breakpoint-associated target 1							283.0	261.0	269.0					6																	124676415		2203	4300	6503	SO:0001819	synonymous_variant	154215					integral to membrane|plasma membrane		g.chr6:124676415T>C	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.195T>C	6.37:g.124676415T>C						NKAIN2_uc003pzn.1_Silent_p.Y65Y|NKAIN2_uc003pzp.2_Silent_p.Y64Y|NKAIN2_uc010keq.2_Silent_p.Y65Y|NKAIN2_uc010ker.2_5'UTR	p.Y65Y	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	3	472	+			65			Helical; (Potential).		Q8IYR4|Q8TF67	Silent	SNP	ENST00000368417.1	37	c.195T>C	CCDS34526.1																																																																																				0.373	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		30	140	0	0	0	0	30	140				
SHPRH	257218	broad.mit.edu	37	6	146247400	146247400	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:146247400C>T	ENST00000367505.2	-	16	3498	c.3234G>A	c.(3232-3234)ttG>ttA	p.L1078L	SHPRH_ENST00000367503.3_Silent_p.L1087L|SHPRH_ENST00000275233.7_Silent_p.L1078L|SHPRH_ENST00000438092.2_Silent_p.L1087L			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1078					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGGCTATCAACAATTCCATCA	0.383																																						uc003qlf.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3232-3234)TTG>TTA		SNF2 histone linker PHD RING helicase isoform a							115.0	110.0	112.0					6																	146247400		1893	4116	6009	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146247400C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3234G>A	6.37:g.146247400C>T						SHPRH_uc003qld.2_Silent_p.L1087L|SHPRH_uc003qle.2_Silent_p.L1087L|SHPRH_uc003qlg.1_Silent_p.L634L|SHPRH_uc003qlh.2_Silent_p.L3L|SHPRH_uc003qli.1_Silent_p.L3L	p.L1078L	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	16	3633	-		Ovarian(120;0.0365)	1078					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.3234G>A	CCDS43513.2																																																																																				0.383	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		15	73	0	0	0	0	15	73				
CNKSR3	154043	broad.mit.edu	37	6	154727688	154727688	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:154727688C>T	ENST00000607772.1	-	13	2012	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	CNKSR3_ENST00000479339.1_Missense_Mutation_p.E410K|CNKSR3_ENST00000433165.2_Missense_Mutation_p.E315K	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	490	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		AGATGCCGCTCGGTCGTGGGT	0.582																																						uc003qpy.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1468-1470)GAG>AAG		CNKSR family member 3							88.0	84.0	85.0					6																	154727688		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154727688C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1468G>A	6.37:g.154727688C>T	ENSP00000475915:p.Glu490Lys						p.E490K	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	13	1973	-		Ovarian(120;0.196)	490			DUF1170.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.1468G>A	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206758	0.79127	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	T;T;T	0.48201	1.42;0.82;0.83	4.93	4.93	0.64822	Connector enhancer of kinase suppressor of ras 2 (1);	0.495032	0.21575	N	0.072341	T	0.22936	0.0554	L	0.50333	1.59	0.28397	N	0.918838	P	0.40794	0.729	B	0.31245	0.126	T	0.16070	-1.0415	10	0.54805	T	0.06	.	11.9613	0.53009	0.0:0.9192:0.0:0.0808	.	490	Q6P9H4	CNKR3_HUMAN	K	490;315;410	ENSP00000356182:E490K;ENSP00000414185:E315K;ENSP00000418975:E410K	ENSP00000356182:E490K	E	-	1	0	CNKSR3	154769380	1.000000	0.71417	0.902000	0.35471	0.993000	0.82548	5.709000	0.68384	2.444000	0.82710	0.655000	0.94253	GAG		0.582	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		15	77	0	0	0	0	15	77				
SNX8	29886	broad.mit.edu	37	7	2296548	2296548	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:2296548G>A	ENST00000222990.3	-	10	1287	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	415					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGAAGGCGCGGAGGATGTGGG	0.627																																						uc003slw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1243-1245)CTC>CTT		sorting nexin 8							160.0	109.0	126.0					7																	2296548		2203	4300	6503	SO:0001819	synonymous_variant	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2296548G>A	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.1245C>T	7.37:g.2296548G>A							p.L415L	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	10	1288	-		Ovarian(82;0.11)	415					A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	c.1245C>T	CCDS5331.1																																																																																				0.627	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			9	33	0	0	0	0	9	33				
CREB5	9586	broad.mit.edu	37	7	28844023	28844023	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:28844023C>G	ENST00000357727.2	+	8	1300	c.910C>G	c.(910-912)Caa>Gaa	p.Q304E	CREB5_ENST00000409603.1_Missense_Mutation_p.Q271E|CREB5_ENST00000396298.2_Missense_Mutation_p.Q165E|CREB5_ENST00000396300.2_Missense_Mutation_p.Q297E|CREB5_ENST00000396299.2_Missense_Mutation_p.Q271E	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	304					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						tcctcaccctcaaccccatca	0.602																																						uc003szq.2		NA																	0				skin(2)	2						c.(910-912)CAA>GAA		cAMP responsive element binding protein 5							597.0	337.0	425.0					7																	28844023		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28844023C>G	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.910C>G	7.37:g.28844023C>G	ENSP00000350359:p.Gln304Glu					CREB5_uc003szo.2_Missense_Mutation_p.Q271E|CREB5_uc003szr.2_Missense_Mutation_p.Q297E|CREB5_uc003szs.2_Missense_Mutation_p.Q165E	p.Q304E	NM_182898	NP_878901	Q02930	CREB5_HUMAN			8	1300	+			304					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.910C>G	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567413	0.28003	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.65549	-0.14;-0.13;-0.14;-0.14;-0.16	5.51	5.51	0.81932	.	0.593369	0.18324	N	0.144719	T	0.41373	0.1156	N	0.08118	0	0.52099	D	0.999943	B;B	0.21381	0.019;0.055	B;B	0.18871	0.023;0.016	T	0.40869	-0.9540	10	0.02654	T	1	-13.3388	19.0859	0.93202	0.0:1.0:0.0:0.0	.	165;304	B4DU13;Q02930	.;CREB5_HUMAN	E	271;304;297;271;130;165	ENSP00000379593:Q271E;ENSP00000350359:Q304E;ENSP00000379594:Q297E;ENSP00000387197:Q271E;ENSP00000379592:Q165E	ENSP00000350359:Q304E	Q	+	1	0	CREB5	28810548	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.435000	0.80391	2.623000	0.88846	0.579000	0.79373	CAA		0.602	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		11	25	0	0	0	0	11	25				
CCDC129	223075	broad.mit.edu	37	7	31683179	31683179	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:31683179G>T	ENST00000407970.3	+	11	2233	c.2195G>T	c.(2194-2196)gGa>gTa	p.G732V	CCDC129_ENST00000319386.3_Missense_Mutation_p.G584V|CCDC129_ENST00000409210.1_Missense_Mutation_p.G640V|CCDC129_ENST00000451887.2_Missense_Mutation_p.G758V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	732										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGTCCCAGAGGAACATCTTTA	0.507																																						uc003tcj.1		NA																	0					0						c.(2194-2196)GGA>GTA		coiled-coil domain containing 129							95.0	98.0	97.0					7																	31683179		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31683179G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2195G>T	7.37:g.31683179G>T	ENSP00000384416:p.Gly732Val					CCDC129_uc011kad.1_Missense_Mutation_p.G742V|CCDC129_uc003tci.1_Missense_Mutation_p.G583V|CCDC129_uc011kae.1_Missense_Mutation_p.G758V|CCDC129_uc003tck.1_Missense_Mutation_p.G640V	p.G732V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	3188	+			732					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2195G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766629	0.49574	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.19105	2.17;2.44;2.44;2.18	4.98	-0.295	0.12828	.	0.795308	0.11022	N	0.608251	T	0.37100	0.0991	M	0.65975	2.015	0.18873	N	0.999985	D;D;D;D	0.67145	0.996;0.971;0.971;0.996	D;P;P;D	0.65010	0.931;0.839;0.839;0.931	T	0.16958	-1.0385	10	0.72032	D	0.01	-0.1134	7.3829	0.26866	0.5077:0.0:0.4923:0.0	.	758;742;732;584	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	V	584;732;758;742;640	ENSP00000313062:G584V;ENSP00000384416:G732V;ENSP00000395835:G758V;ENSP00000387214:G640V	ENSP00000313062:G584V	G	+	2	0	CCDC129	31649704	0.001000	0.12720	0.002000	0.10522	0.234000	0.25298	-0.013000	0.12678	0.040000	0.15660	0.655000	0.94253	GGA		0.507	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		14	62	1	0	4.93e-13	5.57e-13	14	62				
MYO1G	64005	broad.mit.edu	37	7	45005749	45005749	+	Missense_Mutation	SNP	G	G	A	rs576689841		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:45005749G>A	ENST00000258787.7	-	16	2216	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	694	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CGGGGTGAGCGGATGAACAGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		15885	0.001		0.0	False		,,,				2504	0.0					uc003tmh.2		NA																	0				breast(2)|ovary(1)|pancreas(1)	4						c.(2080-2082)CGC>TGC		myosin IG							85.0	76.0	79.0					7																	45005749		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45005749G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2080C>T	7.37:g.45005749G>A	ENSP00000258787:p.Arg694Cys					MYO1G_uc003tmf.2_Missense_Mutation_p.R137C|MYO1G_uc003tmg.2_Missense_Mutation_p.R456C|MYO1G_uc010kym.2_Missense_Mutation_p.R579C|MYO1G_uc003tmi.1_3'UTR	p.R694C	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			16	2224	-			694					Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.2080C>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801046	0.70567	.	.	ENSG00000136286	ENST00000258787	T	0.74842	-0.88	4.54	3.62	0.41486	Myosin head, motor domain (2);	0.000000	0.39615	N	0.001313	D	0.87489	0.6190	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88592	0.3144	10	0.87932	D	0	.	10.7961	0.46461	0.0999:0.0:0.9001:0.0	.	694	B0I1T2	MYO1G_HUMAN	C	694	ENSP00000258787:R694C	ENSP00000258787:R694C	R	-	1	0	MYO1G	44972274	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.158000	0.64917	0.953000	0.37825	0.561000	0.74099	CGC		0.647	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			8	37	0	0	0	0	8	37				
GTF2I	2969	broad.mit.edu	37	7	74114630	74114630	+	Nonsense_Mutation	SNP	C	C	T	rs1064765	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:74114630C>T	ENST00000324896.4	+	5	816	c.427C>T	c.(427-429)Cga>Tga	p.R143*	AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Nonsense_Mutation_p.R143*|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Nonsense_Mutation_p.R143*|GTF2I_ENST00000443166.1_Nonsense_Mutation_p.R143*|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000353920.4_Nonsense_Mutation_p.R143*	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	143					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGATGCTGCGAGACCAGTC	0.478																																						uc003uau.2		NA																	0					0						c.(427-429)CGA>TGA		general transcription factor IIi isoform 1							114.0	111.0	112.0					7																	74114630		2203	4300	6503	SO:0001587	stop_gained	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74114630C>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.427C>T	7.37:g.74114630C>T	ENSP00000322542:p.Arg143*					GTF2I_uc003uat.2_Nonsense_Mutation_p.R143*|GTF2I_uc003uav.2_Nonsense_Mutation_p.R143*|GTF2I_uc003uaw.2_Nonsense_Mutation_p.R143*|GTF2I_uc003uay.2_Nonsense_Mutation_p.R143*|GTF2I_uc003uax.2_Nonsense_Mutation_p.R143*|uc003uaz.2_RNA	p.R143*	NM_032999	NP_127492	P78347	GTF2I_HUMAN			5	797	+			143			GTF2I-like 1.		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Nonsense_Mutation	SNP	ENST00000324896.4	37	c.427C>T	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645993	0.67358	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166	.	.	.	5.31	-0.91	0.10511	.	0.086235	0.46442	D	0.000295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9867	15.0523	0.71885	0.5492:0.4508:0.0:0.0	.	.	.	.	X	143;138;143;143;143;143	.	ENSP00000322542:R143X	R	+	1	2	GTF2I	73752566	0.772000	0.28567	0.020000	0.16555	0.884000	0.51177	1.359000	0.34113	-0.074000	0.12820	-0.516000	0.04426	CGA		0.478	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		11	72	0	0	0	0	11	72				
PLOD3	8985	broad.mit.edu	37	7	100849690	100849690	+	Missense_Mutation	SNP	C	C	T	rs199647243		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:100849690C>T	ENST00000223127.3	-	19	2487	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	697	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATCACACAGTCGTAGCGCAGG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		16370	0.001		0.0	False		,,,				2504	0.0					uc003uyd.2		NA																	0				ovary(1)|skin(1)	2						c.(2089-2091)GAC>AAC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						51.0	45.0	47.0					7																	100849690		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100849690C>T	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.2089G>A	7.37:g.100849690C>T	ENSP00000223127:p.Asp697Asn					PLOD3_uc010lhs.2_Missense_Mutation_p.D262N	p.D697N	NM_001084	NP_001075	O60568	PLOD3_HUMAN			19	2545	-	Lung NSC(181;0.168)|all_lung(186;0.215)		697			Fe2OG dioxygenase.		B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.2089G>A	CCDS5715.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.327	-0.958337	0.02267	.	.	ENSG00000106397	ENST00000223127	T	0.77358	-1.09	4.63	1.87	0.25490	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.078072	0.49305	D	0.000148	T	0.39410	0.1077	N	0.00793	-1.18	0.35257	D	0.779193	B;B	0.09022	0.002;0.002	B;B	0.11329	0.005;0.006	T	0.46541	-0.9184	10	0.02654	T	1	-27.6869	6.7325	0.23390	0.0:0.6172:0.0:0.3828	.	324;697	Q9UG85;O60568	.;PLOD3_HUMAN	N	697	ENSP00000223127:D697N	ENSP00000223127:D697N	D	-	1	0	PLOD3	100636410	0.353000	0.24904	0.987000	0.45799	0.314000	0.28054	0.095000	0.15127	0.212000	0.20703	-0.254000	0.11334	GAC		0.652	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			7	19	0	0	0	0	7	19				
SSPO	23145	broad.mit.edu	37	7	149493600	149493600	+	RNA	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:149493600C>T	ENST00000378016.2	+	0	6676							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCTGCGAGCCAGGTACAGG	0.672																																						uc010lpk.2		NA																	0					0						c.(6676-6678)CCA>TCA		SCO-spondin precursor							59.0	70.0	67.0					7																	149493600		2149	4234	6383			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493600C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493600C>T							p.P2226S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		45	6676	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2226					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.6676C>T																																																																																					0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				15	68	0	0	0	0	15	68				
UBR5	51366	broad.mit.edu	37	8	103305964	103305964	+	Silent	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:103305964G>C	ENST00000520539.1	-	34	5064	c.4458C>G	c.(4456-4458)gtC>gtG	p.V1486V	UBR5_ENST00000521922.1_Silent_p.V1480V|UBR5_ENST00000220959.4_Silent_p.V1486V|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1486					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCCCATTCTGACAGGAACAA	0.463																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(4456-4458)GTC>GTG		ubiquitin protein ligase E3 component n-recognin							122.0	92.0	102.0					8																	103305964		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103305964G>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4458C>G	8.37:g.103305964G>C						UBR5_uc003yks.1_Silent_p.V1486V	p.V1486V	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		34	4491	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1486					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.4458C>G	CCDS34933.1																																																																																				0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		4	21	0	0	0	0	4	21				
BAI1	575	broad.mit.edu	37	8	143562715	143562715	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:143562715G>C	ENST00000517894.1	+	10	2823	c.1929G>C	c.(1927-1929)caG>caC	p.Q643H	BAI1_ENST00000323289.5_Missense_Mutation_p.Q643H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	643					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAACATCCAGATGATGGTGA	0.607																																						uc003ywm.2		NA																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(1927-1929)CAG>CAC		brain-specific angiogenesis inhibitor 1							60.0	65.0	63.0					8																	143562715		1935	4139	6074	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143562715G>C	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1929G>C	8.37:g.143562715G>C	ENSP00000430945:p.Gln643His						p.Q643H	NM_001702	NP_001693	O14514	BAI1_HUMAN			9	2112	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		643			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517894.1	37	c.1929G>C		.	.	.	.	.	.	.	.	.	.	G	13.72	2.320929	0.41096	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28069	1.63;1.63	4.16	1.9	0.25705	.	0.000000	0.64402	U	0.000003	T	0.41926	0.1180	L	0.42245	1.32	0.46096	D	0.998861	D	0.89917	1.0	D	0.81914	0.995	T	0.11767	-1.0574	10	0.36615	T	0.2	.	10.3293	0.43812	0.2017:0.0:0.7983:0.0	.	643	E9PBK0	.	H	643	ENSP00000430945:Q643H;ENSP00000313046:Q643H	ENSP00000313046:Q643H	Q	+	3	2	BAI1	143559717	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	0.877000	0.28106	0.752000	0.32923	0.313000	0.20887	CAG		0.607	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		16	66	0	0	0	0	16	66				
LY6D	8581	broad.mit.edu	37	8	143866646	143866646	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:143866646G>A	ENST00000301263.4	-	3	453	c.378C>T	c.(376-378)ccC>ccT	p.P126P	RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	126					cell adhesion (GO:0007155)|lymphocyte differentiation (GO:0030098)|response to stilbenoid (GO:0035634)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|membrane (GO:0016020)|plasma membrane (GO:0005886)				large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTCACAGGCTGGGGGCTAAGA	0.667																																						uc003yxf.1		NA																	0					0						c.(376-378)CCC>CCT		lymphocyte antigen 6 complex, locus D precursor							19.0	22.0	21.0					8																	143866646		2200	4296	6496	SO:0001819	synonymous_variant	8581				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding	g.chr8:143866646G>A	U66837	CCDS6390.1	8q24	2004-07-06			ENSG00000167656	ENSG00000167656			13348	protein-coding gene	gene with protein product		606204				7790363, 9551972	Standard	NM_003695		Approved	E48	uc003yxf.1	Q14210	OTTHUMG00000164693	ENST00000301263.4:c.378C>T	8.37:g.143866646G>A							p.P126P	NM_003695	NP_003686	Q14210	LY6D_HUMAN			3	454	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		126					B2R5F1|D3DWJ0|O43783|Q6GTV9|Q8TBD4|Q92933	Silent	SNP	ENST00000301263.4	37	c.378C>T	CCDS6390.1																																																																																				0.667	LY6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379774.1	NM_003695		5	21	0	0	0	0	5	21				
EPPK1	83481	broad.mit.edu	37	8	144940413	144940413	+	Missense_Mutation	SNP	G	G	A	rs557634082	byFrequency	TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:144940413G>A	ENST00000525985.1	-	2	7080	c.7009C>T	c.(7009-7011)Cgc>Tgc	p.R2337C				P58107	EPIPL_HUMAN	epiplakin 1	2337						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCAGCAGGCGGATGCCGTGC	0.701													G|||	4	0.000798722	0.0023	0.0	5008	,	,		74729	0.0		0.0	False		,,,				2504	0.001					uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(15019-15021)CGC>TGC		epiplakin 1							169.0	170.0	169.0					8																	144940413		2164	4238	6402	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940413G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7009C>T	8.37:g.144940413G>A	ENSP00000436337:p.Arg2337Cys						p.R5007C	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15032	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5007			Plectin 64.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.15019C>T		.	.	.	.	.	.	.	.	.	.	G	24.2	4.504230	0.85176	.	.	ENSG00000227184	ENST00000525985	T	0.80214	-1.35	4.39	3.44	0.39384	.	.	.	.	.	D	0.91043	0.7182	M	0.94021	3.485	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.91846	0.5487	9	0.59425	D	0.04	.	11.5619	0.50782	0.0:0.0:0.8213:0.1787	.	2337	E9PPU0	.	C	2337	ENSP00000436337:R2337C	ENSP00000436337:R2337C	R	-	1	0	EPPK1	145012401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.608000	0.61141	2.451000	0.82905	0.586000	0.80456	CGC		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	397	0	0	0	0	9	397				
TONSL	4796	broad.mit.edu	37	8	145661383	145661383	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr8:145661383C>T	ENST00000409379.3	-	17	2462	c.2433G>A	c.(2431-2433)ccG>ccA	p.P811P	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	811					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TGTGGCCCCGCGGTGGGCCAG	0.721																																						uc011llg.1		NA																	0					0						c.(2431-2433)CCG>CCA		NF-kappa-B inhibitor-like protein 2							6.0	8.0	8.0					8																	145661383		2142	4195	6337	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661383C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2433G>A	8.37:g.145661383C>T						uc011llh.1_Intron	p.P811P	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		17	2448	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		811					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.2433G>A	CCDS34968.2																																																																																				0.721	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		6	13	0	0	0	0	6	13				
ALDH1B1	219	broad.mit.edu	37	9	38396723	38396723	+	Silent	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:38396723C>T	ENST00000377698.3	+	2	1131	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	326					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CCCGGACCTTCGTGGAAGAAT	0.577																																						uc004aay.2		NA																	0				skin(1)	1						c.(976-978)TTC>TTT		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)						41.0	45.0	43.0					9																	38396723		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396723C>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.978C>T	9.37:g.38396723C>T							p.F326F	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1090	+			326					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.978C>T	CCDS6615.1																																																																																				0.577	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			8	33	0	0	0	0	8	33				
TRPM6	140803	broad.mit.edu	37	9	77343238	77343238	+	Missense_Mutation	SNP	G	G	A	rs143161006		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:77343238G>A	ENST00000360774.1	-	38	6089	c.5852C>T	c.(5851-5853)cCg>cTg	p.P1951L	TRPM6_ENST00000451710.3_Missense_Mutation_p.P1955L|TRPM6_ENST00000376871.3_Missense_Mutation_p.P788L|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1946L|TRPM6_ENST00000449912.2_Missense_Mutation_p.P1946L|TRPM6_ENST00000376872.3_Missense_Mutation_p.P906L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1951	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAATTGGCCGGTCCAAACAC	0.428																																						uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(5851-5853)CCG>CTG		transient receptor potential cation channel,		G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	105.0	90.0	95.0		5837,5837,5852	5.9	1.0	9	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1946/2018,1946/2018,1951/2023	77343238	1,13005	2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77343238G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5852C>T	9.37:g.77343238G>A	ENSP00000354006:p.Pro1951Leu					TRPM6_uc004ajk.1_Missense_Mutation_p.P1946L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.P902L|TRPM6_uc010mpd.1_Missense_Mutation_p.P784L|TRPM6_uc010mpe.1_Missense_Mutation_p.P498L|TRPM6_uc004ajj.1_Missense_Mutation_p.P907L	p.P1951L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			38	6090	-			1951			ATP (By similarity).|Alpha-type protein kinase.|Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5852C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323619	0.81580	0.0	1.16E-4	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	5.95	5.95	0.96441	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.39147	1.195	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.995;1.0;1.0;1.0;1.0;1.0	T	0.00819	-1.1553	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	498;784;902;1951;1946;1946	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	L	1951;1955;906;788;1946;1946;497	ENSP00000354006:P1951L;ENSP00000407341:P1955L;ENSP00000366068:P906L;ENSP00000366067:P788L;ENSP00000396672:P1946L;ENSP00000354962:P1946L	ENSP00000354006:P1951L	P	-	2	0	TRPM6	76533058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.837000	0.99465	2.824000	0.97209	0.655000	0.94253	CCG		0.428	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		12	33	0	0	0	0	12	33				
ABCA1	19	broad.mit.edu	37	9	107571747	107571747	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:107571747G>A	ENST00000374736.3	-	30	4668	c.4274C>T	c.(4273-4275)cCa>cTa	p.P1425L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1425					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGGCACTCACGGGATTGGGTT	0.512																																						uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(4273-4275)CCA>CTA		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						109.0	99.0	103.0					9																	107571747		2203	4300	6503	SO:0001630	splice_region_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107571747G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4274+1C>T	9.37:g.107571747G>A							p.P1425L	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	30	4587	-			1425			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.4274C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267110	0.40095	.	.	ENSG00000165029	ENST00000374736	D	0.94723	-3.5	5.68	5.68	0.88126	.	0.282145	0.40908	D	0.000995	D	0.88392	0.6424	N	0.25825	0.765	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.81915	-0.0714	9	.	.	.	.	8.9443	0.35749	0.0736:0.0:0.7772:0.1492	.	1425	O95477	ABCA1_HUMAN	L	1425	ENSP00000363868:P1425L	.	P	-	2	0	ABCA1	106611568	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.056000	0.57448	2.704000	0.92352	0.650000	0.86243	CCA		0.512	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Missense_Mutation	10	25	0	0	0	0	10	25				
FNBP1	23048	broad.mit.edu	37	9	132687418	132687418	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:132687418C>T	ENST00000446176.2	-	9	994	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	FNBP1_ENST00000355681.3_Missense_Mutation_p.E270K|FNBP1_ENST00000420781.1_Missense_Mutation_p.E270K|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	270	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTATAAGCTTCTATTACCAGC	0.403			T	MLL	AML																																	uc004byw.1		NA		Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0					0						c.(808-810)GAA>AAA		formin binding protein 1							118.0	111.0	113.0					9																	132687418		1866	4101	5967	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132687418C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.808G>A	9.37:g.132687418C>T	ENSP00000413625:p.Glu270Lys					FNBP1_uc011mbv.1_Missense_Mutation_p.E270K|FNBP1_uc011mbw.1_Missense_Mutation_p.E270K|FNBP1_uc004bza.2_Missense_Mutation_p.E270K|FNBP1_uc004byz.1_Missense_Mutation_p.E270K|FNBP1_uc004byx.1_Missense_Mutation_p.E191K|FNBP1_uc004byy.1_Missense_Mutation_p.E191K	p.E270K	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	9	1027	-		Ovarian(14;0.000536)	270			Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.808G>A	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939880	0.92526	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.22336	1.96;1.96;1.96	5.34	5.34	0.76211	.	0.094831	0.64402	D	0.000001	T	0.51991	0.1707	M	0.82193	2.58	0.80722	D	1	P;D;P;D;D;P;P	0.71674	0.769;0.989;0.837;0.998;0.989;0.742;0.712	B;D;B;D;D;P;P	0.76071	0.442;0.987;0.43;0.956;0.987;0.645;0.561	T	0.57189	-0.7854	10	0.87932	D	0	-42.8863	18.4048	0.90532	0.0:1.0:0.0:0.0	.	270;270;270;270;231;270;270	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.;.;.;.;.;.;FNBP1_HUMAN	K	270	ENSP00000413625:E270K;ENSP00000407548:E270K;ENSP00000347907:E270K	ENSP00000347907:E270K	E	-	1	0	FNBP1	131727239	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	7.336000	0.79245	2.655000	0.90218	0.462000	0.41574	GAA		0.403	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			13	46	0	0	0	0	13	46				
NOTCH1	4851	broad.mit.edu	37	9	139402562	139402562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:139402562C>A	ENST00000277541.6	-	21	3430	c.3355G>T	c.(3355-3357)Gga>Tga	p.G1119*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1119	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAGCCCTCCATGCTGGCAC	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3355-3357)GGA>TGA		notch1 preproprotein							24.0	29.0	27.0					9																	139402562		2042	4173	6215	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402562C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3355G>T	9.37:g.139402562C>A	ENSP00000277541:p.Gly1119*	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Nonsense_Mutation_p.G349*	p.G1119*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	21	3355	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1119			Extracellular (Potential).|EGF-like 29.		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.3355G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	38	7.198056	0.98129	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.01	4.02	0.46733	.	0.147302	0.47093	D	0.000249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.9333	0.41537	0.4131:0.5869:0.0:0.0	.	.	.	.	X	1119	.	ENSP00000277541:G1119X	G	-	1	0	NOTCH1	138522383	1.000000	0.71417	0.947000	0.38551	0.038000	0.13279	2.896000	0.48656	2.321000	0.78463	0.655000	0.94253	GGA		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	25	1	0	2.18e-05	2.32e-05	10	25				
SUPT20HL1	100130302	broad.mit.edu	37	X	24382304	24382304	+	IGR	SNP	C	C	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:24382304C>G								AC004552.1 (15281 upstream) : PDK3 (101033 downstream)																							AAGATTTCCTCAGGTAACAGT	0.557																																						uc011mjx.1		NA																	0				kidney(1)	1						c.(1426-1428)TCA>TGA		hypothetical protein LOC100130302							20.0	17.0	18.0					X																	24382304		1566	3572	5138	SO:0001628	intergenic_variant	100130302							g.chrX:24382304C>G																													X.37:g.24382304C>G							p.S476*	NM_001136234	NP_001129706					1	1427	+									Nonsense_Mutation	SNP		37	c.1427C>G																																																																																				0	0.557									2	5	0	0	0	0	2	5				
SMC1A	8243	broad.mit.edu	37	X	53439161	53439161	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:53439161G>C	ENST00000322213.4	-	6	1024	c.897C>G	c.(895-897)atC>atG	p.I299M	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	299					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCTTGGCTTTGATGTACTGAG	0.502																																						uc004dsg.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(895-897)ATC>ATG		structural maintenance of chromosomes 1A							98.0	82.0	87.0					X																	53439161		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439161G>C	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.897C>G	X.37:g.53439161G>C	ENSP00000323421:p.Ile299Met					SMC1A_uc011moe.1_Missense_Mutation_p.I277M|SMC1A_uc011mof.1_Intron	p.I299M	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			6	966	-			299			Potential.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.897C>G	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711820	0.48517	.	.	ENSG00000072501	ENST00000322213	T	0.78707	-1.2	4.65	1.9	0.25705	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.86272	0.5893	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.985;0.992	D	0.83835	0.0254	10	0.87932	D	0	.	7.3838	0.26870	0.4833:0.0:0.5167:0.0	.	277;299	Q6MZR8;Q14683	.;SMC1A_HUMAN	M	299	ENSP00000323421:I299M	ENSP00000323421:I299M	I	-	3	3	SMC1A	53455886	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.467000	0.35321	0.052000	0.16007	0.600000	0.82982	ATC		0.502	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		12	15	0	0	0	0	12	15				
HUWE1	10075	broad.mit.edu	37	X	53573400	53573400	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:53573400T>C	ENST00000342160.3	-	69	11369	c.10912A>G	c.(10912-10914)Ata>Gta	p.I3638V	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.I3638V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3638					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTATTACCTATTTGTTTACAA	0.483																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(10912-10914)ATA>GTA		HECT, UBA and WWE domain containing 1							43.0	39.0	40.0					X																	53573400		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53573400T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10912A>G	X.37:g.53573400T>C	ENSP00000340648:p.Ile3638Val					HUWE1_uc004dsn.2_Missense_Mutation_p.I2446V|HUWE1_uc004dsq.1_5'Flank	p.I3638V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			70	11314	-			3638					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10912A>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.15|14.15	2.449644|2.449644	0.43531|0.43531	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.55588|.	0.51;0.51|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.178995|.	0.31335|.	N|.	0.007832|.	T|T	0.59729|0.59729	0.2215|0.2215	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.38863|.	0.518;0.65|.	P;P|.	0.54140|.	0.558;0.743|.	T|T	0.57136|0.57136	-0.7863|-0.7863	10|5	0.48119|.	T|.	0.1|.	.|.	13.6978|13.6978	0.62591|0.62591	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3638;3622|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	V|S	3638|2671;475	ENSP00000340648:I3638V;ENSP00000262854:I3638V|.	ENSP00000262854:I3638V|.	I|N	-|-	1|2	0|0	HUWE1|HUWE1	53590125|53590125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	7.124000|7.124000	0.77185|0.77185	1.878000|1.878000	0.54408|0.54408	0.486000|0.486000	0.48141|0.48141	ATA|AAT		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	6	0	0	0	0	3	6				
PHF6	84295	broad.mit.edu	37	X	133549100	133549100	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:133549100G>A	ENST00000332070.3	+	8	986	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PHF6_ENST00000394292.1_Missense_Mutation_p.D263N|PHF6_ENST00000370800.4_Missense_Mutation_p.D263N|PHF6_ENST00000370799.1_Missense_Mutation_p.D263N|PHF6_ENST00000416404.2_Missense_Mutation_p.D228N|PHF6_ENST00000370803.3_Missense_Mutation_p.D262N	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	262	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AGAATTTGGAGACTTTGATAT	0.338			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	uc004exj.2		NA		Rec	yes		X	Xq26.3	84295		PHD finger protein 6			L					0				ovary(1)	1						c.(784-786)GAC>AAC		PHD finger protein 6 isoform 1							61.0	58.0	59.0					X																	133549100		2203	4296	6499	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133549100G>A	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.784G>A	X.37:g.133549100G>A	ENSP00000329097:p.Asp262Asn					PHF6_uc004exk.2_Missense_Mutation_p.D262N|PHF6_uc011mvk.1_Missense_Mutation_p.D228N|PHF6_uc004exh.2_Missense_Mutation_p.D263N|PHF6_uc010nrr.2_Missense_Mutation_p.D262N|PHF6_uc004exi.2_Missense_Mutation_p.D263N	p.D262N	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN			8	986	+	Acute lymphoblastic leukemia(192;0.000127)		262					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.784G>A	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	9.436	1.086915	0.20390	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	T;T;T;T;T;D	0.87103	-0.47;-0.47;-0.47;-0.47;-0.47;-2.21	5.42	5.42	0.78866	.	0.042071	0.85682	D	0.000000	T	0.72518	0.3470	N	0.04260	-0.245	0.53005	D	0.999963	B;B;B;B;B	0.26512	0.004;0.151;0.004;0.004;0.018	B;B;B;B;B	0.20955	0.004;0.016;0.007;0.007;0.032	T	0.70626	-0.4820	10	0.10377	T	0.69	-17.5676	17.4048	0.87470	0.0:0.0:1.0:0.0	.	228;262;262;263;263	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	N	262;262;263;263;228;263	ENSP00000359839:D262N;ENSP00000329097:D262N;ENSP00000377831:D263N;ENSP00000359835:D263N;ENSP00000394480:D228N;ENSP00000359836:D263N	ENSP00000329097:D262N	D	+	1	0	PHF6	133376766	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.890000	0.75633	2.410000	0.81850	0.594000	0.82650	GAC		0.338	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		13	17	0	0	0	0	13	17				
SOX3	6658	broad.mit.edu	37	X	139586794	139586794	+	Silent	SNP	G	G	A			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chrX:139586794G>A	ENST00000370536.2	-	1	431	c.432C>T	c.(430-432)aaC>aaT	p.N144N		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	144					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCATGAAGGCGTTCATGGGCC	0.667																																						uc004fbd.1		NA																	0				pancreas(1)	1						c.(430-432)AAC>AAT		SRY (sex determining region Y)-box 3							40.0	40.0	40.0					X																	139586794		2203	4300	6503	SO:0001819	synonymous_variant	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586794G>A		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.432C>T	X.37:g.139586794G>A							p.N144N	NM_005634	NP_005625	P41225	SOX3_HUMAN			1	432	-	Acute lymphoblastic leukemia(192;7.65e-05)		144			HMG box.		P35714|Q5JWI3|Q9NP49	Silent	SNP	ENST00000370536.2	37	c.432C>T	CCDS14669.1																																																																																				0.667	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			11	16	0	0	0	0	11	16				
THEM4	117145	broad.mit.edu	37	1	151861698	151861699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr1:151861698_151861699insC	ENST00000368814.3	-	3	786_787	c.437_438insG	c.(436-438)ggafs	p.G146fs	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	146					epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCAGGTGGTCCTTCCAGGTA	0.416																																						uc001ezj.1		NA																	0					0						c.(436-438)GGAfs		thioesterase superfamily member 4																																				SO:0001589	frameshift_variant	117145				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane		g.chr1:151861698_151861699insC	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.438dupG	1.37:g.151861700_151861700dupC	ENSP00000357804:p.Gly146fs					THEM4_uc001ezk.1_RNA	p.G146fs	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	616_617	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		146					B2RBX2|Q96KR2	Frame_Shift_Ins	INS	ENST00000368814.3	37	c.437_438insG	CCDS1006.1																																																																																				0.416	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		18	66	NA	NA	NA	NA	18	66	---	---	---	---
AP5B1	91056	broad.mit.edu	37	11	65545479	65545480	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr11:65545479_65545480insG	ENST00000532090.2	-	2	2694_2695	c.2484_2485insC	c.(2482-2487)tactgtfs	p.C829fs		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	829					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						ATTGCTACACAGTAGCTGGTAG	0.658																																						uc001ofo.3		NA																	0					0						c.(2311-2316)TACTGTfs		hypothetical protein LOC91056																																				SO:0001589	frameshift_variant	91056						protein binding	g.chr11:65545479_65545480insG	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.2485dupC	11.37:g.65545480_65545480dupG	ENSP00000454303:p.Cys829fs						p.Y771fs	NM_138368	NP_612377	Q2VPB7	YK046_HUMAN		READ - Rectum adenocarcinoma(159;0.167)	1	2343_2344	-			771_772					A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Frame_Shift_Ins	INS	ENST00000532090.2	37	c.2313_2314insC	CCDS58146.1																																																																																				0.658	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		12	14	NA	NA	NA	NA	12	14	---	---	---	---
RAN	5901	broad.mit.edu	37	12	131359130	131359133	+	Frame_Shift_Del	DEL	TTAC	TTAC	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr12:131359130_131359133delTTAC	ENST00000543796.1	+	5	545_548	c.287_290delTTAC	c.(286-291)gttactfs	p.VT96fs	RAN_ENST00000392367.3_Frame_Shift_Del_p.VT113fs|RAN_ENST00000392369.2_Frame_Shift_Del_p.VT96fs|RAN_ENST00000254675.3_Frame_Shift_Del_p.VT8fs|RAN_ENST00000541630.1_Frame_Shift_Del_p.VT8fs			P62826	RAN_HUMAN	RAN, member RAS oncogene family	96					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		ACATCGAGAGTTACTTACAAGAAT	0.407																																						uc001uir.2		NA																	0					0						c.(286-291)GTTACTfs		ras-related nuclear protein																																				SO:0001589	frameshift_variant	5901				androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity	g.chr12:131359130_131359133delTTAC	M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.287_290delTTAC	12.37:g.131359134_131359137delTTAC	ENSP00000446215:p.Val96fs					RAN_uc010tbk.1_Frame_Shift_Del_p.V8fs|RAN_uc010tbl.1_Frame_Shift_Del_p.V8fs|RAN_uc001uis.2_Frame_Shift_Del_p.V116fs	p.V96fs	NM_006325	NP_006316	P62826	RAN_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)	5	352_355	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)	96_97					A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Frame_Shift_Del	DEL	ENST00000543796.1	37	c.287_290delTTAC	CCDS9271.1																																																																																				0.407	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2	NM_006325		11	56	NA	NA	NA	NA	11	56	---	---	---	---
MEDAG	84935	broad.mit.edu	37	13	31495735	31495736	+	Frame_Shift_Ins	INS	-	-	A	rs377025280		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr13:31495735_31495736insA	ENST00000380482.4	+	4	864_865	c.539_540insA	c.(538-543)ccaggafs	p.G181fs	TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586464.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	181					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											TTCTTCCCCCCAGGAAATGAAG	0.361																																						uc001uth.3		NA																	0					0						c.(538-540)CCAfs		hypothetical protein LOC84935																																				SO:0001589	frameshift_variant	84935							g.chr13:31495735_31495736insA	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.540dupA	13.37:g.31495736_31495736dupA	ENSP00000369849:p.Gly181fs					uc001utg.1_Intron	p.P180fs	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)	4	880_881	+		Lung SC(185;0.0281)	180					Q8IXF1|Q96K26|Q96NC8	Frame_Shift_Ins	INS	ENST00000380482.4	37	c.539_540insA	CCDS9338.1																																																																																				0.361	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		14	85	NA	NA	NA	NA	14	85	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61908892	61908892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr17:61908892delT	ENST00000310144.6	+	10	1304	c.996delT	c.(994-996)catfs	p.H332fs	FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_Frame_Shift_Del_p.H324fs|PSMC5_ENST00000580864.1_Frame_Shift_Del_p.H324fs|PSMC5_ENST00000581882.1_Frame_Shift_Del_p.H324fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	332	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGAAGATTCATTCTCGGAAGA	0.547																																						uc002jcb.2		NA																	0				large_intestine(1)	1						c.(994-996)CATfs		proteasome 26S ATPase subunit 5							53.0	57.0	55.0					17																	61908892		2202	4299	6501	SO:0001589	frameshift_variant	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908892delT	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.996delT	17.37:g.61908892delT	ENSP00000310572:p.His332fs					PSMC5_uc010ddy.2_Frame_Shift_Del_p.H309fs|PSMC5_uc010ddz.2_Frame_Shift_Del_p.H253fs|PSMC5_uc002jcc.2_Frame_Shift_Del_p.H324fs|PSMC5_uc002jcd.2_Frame_Shift_Del_p.H324fs	p.H332fs	NM_002805	NP_002796	P62195	PRS8_HUMAN			10	1037	+			332					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Frame_Shift_Del	DEL	ENST00000310144.6	37	c.996delT	CCDS11645.1																																																																																				0.547	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		19	98	NA	NA	NA	NA	19	98	---	---	---	---
TRMT1	55621	broad.mit.edu	37	19	13220597	13220598	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:13220597_13220598delCA	ENST00000592062.1	-	11	1731_1732	c.1161_1162delTG	c.(1159-1164)tgtgggfs	p.CG387fs	TRMT1_ENST00000221504.8_Frame_Shift_Del_p.CG358fs|TRMT1_ENST00000357720.4_Frame_Shift_Del_p.CG387fs|TRMT1_ENST00000437766.1_Frame_Shift_Del_p.CG387fs			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	387	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGTCGTTGCCCACAGTGTTCAC	0.624																																						uc002mwj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1159-1164)TGTGGGfs		tRNA methyltransferase 1 isoform 1			,,	0,4264		0,0,2132					,,	4.1	1.0			77	1,8253		0,1,4126	no	frameshift,frameshift,frameshift	TRMT1	NM_017722.3,NM_001142554.1,NM_001136035.2	,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,	,,		1,12517				SO:0001589	frameshift_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13220597_13220598delCA	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1161_1162delTG	19.37:g.13220599_13220600delCA	ENSP00000466967:p.Cys387fs					TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Frame_Shift_Del_p.C358fs|TRMT1_uc002mwl.3_Frame_Shift_Del_p.C387fs|TRMT1_uc010xmz.1_Frame_Shift_Del_p.C173fs	p.C387fs	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	9	1411_1412	-			387_388					O76103|Q548Y5|Q8WVA6	Frame_Shift_Del	DEL	ENST00000592062.1	37	c.1161_1162delTG	CCDS12293.1																																																																																				0.624	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		9	77	NA	NA	NA	NA	9	77	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36214893	36214894	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr19:36214893_36214894insC	ENST00000222270.7	+	8	3319_3320	c.3319_3320insC	c.(3319-3321)accfs	p.T1107fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.T1107fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1107					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)										TCGGCGTCGGACCCCCCGAGAA	0.564																																						uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(3319-3321)ACCfs		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.chr19:36214893_36214894insC	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.3325dupC	19.37:g.36214899_36214899dupC	ENSP00000222270:p.Thr1107fs						p.T1107fs	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	3319_3320	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1107					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	ENST00000222270.7	37	c.3319_3320insC	CCDS46055.1																																																																																				0.564	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		16	25	NA	NA	NA	NA	16	25	---	---	---	---
FOSL2	2355	broad.mit.edu	37	2	28634936	28634949	+	Frame_Shift_Del	DEL	CCCCAGCCCCTGGG	CCCCAGCCCCTGGG	-	rs112106981		TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr2:28634936_28634949delCCCCAGCCCCTGGG	ENST00000264716.4	+	4	1465_1478	c.602_615delCCCCAGCCCCTGGG	c.(601-615)cccccagcccctgggfs	p.PPAPG201fs	FOSL2_ENST00000379619.1_Frame_Shift_Del_p.PPAPG193fs|FOSL2_ENST00000545753.1_Frame_Shift_Del_p.PPAPG162fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	201					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CGCCGATCGCCCCCAGCCCCTGGGCTGCAGCCCA	0.654																																						uc002rma.2		NA																	0				ovary(2)|breast(1)	3						c.(601-615)CCCCCAGCCCCTGGGfs		FOS-like antigen 2																																				SO:0001589	frameshift_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634936_28634949delCCCCAGCCCCTGGG		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.602_615delCCCCAGCCCCTGGG	2.37:g.28634936_28634949delCCCCAGCCCCTGGG	ENSP00000264716:p.Pro201fs					FOSL2_uc010ymi.1_Frame_Shift_Del_p.P162fs	p.P201fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN			4	1411_1424	+	Acute lymphoblastic leukemia(172;0.155)		201_205					B2RD58|B3KP27|B4DYV4|Q6FG46	Frame_Shift_Del	DEL	ENST00000264716.4	37	c.602_615delCCCCAGCCCCTGGG	CCDS1766.1																																																																																				0.654	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		17	84	NA	NA	NA	NA	17	84	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187532709	187532710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr4:187532709_187532710insG	ENST00000441802.2	-	14	9892_9893	c.9683_9684insC	c.(9682-9684)cctfs	p.P3228fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3228	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTCAAACACAGGGGGGTTGTC	0.47										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9682-9684)CCTfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187532709_187532710insG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9684dupC	4.37:g.187532715_187532715dupG	ENSP00000406229:p.Pro3228fs	HNSCC(5;0.00058)					p.P3228fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			14	9871_9872	-			3228			Extracellular (Potential).|Cadherin 29.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.9683_9684insC	CCDS47177.1																																																																																				0.470	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	28	NA	NA	NA	NA	15	28	---	---	---	---
ZBTB22	9278	broad.mit.edu	37	6	33283438	33283442	+	Frame_Shift_Del	DEL	AAGGG	AAGGG	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr6:33283438_33283442delAAGGG	ENST00000431845.2	-	2	1403_1407	c.1252_1256delCCCTT	c.(1252-1257)cccttgfs	p.PL418fs	TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.PL418fs|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTGCATGTCCAAGGGAAGGAGCGGT	0.62																																						uc003oeb.2		NA																	0				ovary(1)	1						c.(1252-1257)CCCTTGfs		zinc finger and BTB domain containing 22																																				SO:0001589	frameshift_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283438_33283442delAAGGG	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1252_1256delCCCTT	6.37:g.33283438_33283442delAAGGG	ENSP00000407545:p.Pro418fs					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Frame_Shift_Del_p.P418fs	p.P418fs	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	1404_1408	-			418_419					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Del	DEL	ENST00000431845.2	37	c.1252_1256delCCCTT	CCDS4775.1																																																																																				0.620	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			76	191	NA	NA	NA	NA	76	191	---	---	---	---
LMOD2	442721	broad.mit.edu	37	7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton (GO:0005856)											AGTGTATACAgaggaggaggagg	0.409																																						uc003vky.2		NA																	0					0						c.(355-357)GAGdel		leiomodin 2 (cardiac)				66,3558		3,60,1749						-9.4	0.0			37	117,7687		5,107,3790	no	coding	LMOD2	NM_207163.1		8,167,5539	A1A1,A1R,RR		1.4992,1.8212,1.6013				183,11245				SO:0001651	inframe_deletion	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123301995_123301997delGAG	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.355_357delGAG	7.37:g.123302004_123302006delGAG	ENSP00000411932:p.Glu124del						p.E124del	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			2	512_514	+			124			Glu-rich.|Potential.		A4D0W9|A4D0Y2|Q8WVJ8	In_Frame_Del	DEL	ENST00000458573.2	37	c.355_357delGAG	CCDS47693.1																																																																																				0.409	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			2	4	NA	NA	NA	NA	2	4	---	---	---	---
DBH	1621	broad.mit.edu	37	9	136522324	136522326	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-CQ-5334-01A-01D-1683-08	TCGA-CQ-5334-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	39978192-2119-4910-a2f6-53834a2b1bf2	9ee54e26-5fd6-4d41-ac47-b95609d09cfc	g.chr9:136522324_136522326delCAA	ENST00000393056.2	+	11	1707_1709	c.1695_1697delCAA	c.(1693-1698)tgcaac>tgc	p.N566del	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	566					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCATGCACTGCAACAAGTCCTCA	0.64																																						uc004cel.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1693-1698)TGCAAC>TGC		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)																																			SO:0001651	inframe_deletion	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136522324_136522326delCAA	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1695_1697delCAA	9.37:g.136522327_136522329delCAA	ENSP00000376776:p.Asn566del					uc010nao.1_In_Frame_Del_p.L19del	p.N566del	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	11	1704_1706	+			566			Intragranular (Potential).		Q5T381|Q96AG2	In_Frame_Del	DEL	ENST00000393056.2	37	c.1695_1697delCAA	CCDS6977.2																																																																																				0.640	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		9	50	NA	NA	NA	NA	9	50	---	---	---	---
