#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
DMBX1	127343	broad.mit.edu	37	1	46972778	46972778	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:46972778G>A	ENST00000360032.3	+	1	110	c.96G>A	c.(94-96)caG>caA	p.Q32Q	DMBX1_ENST00000371956.4_Silent_p.Q32Q	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCAGGCCCAGCATGCCCCCG	0.642																																						uc001cpx.3																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(94-96)caG>caA		Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.							70.0	58.0	62.0					1																	46972778		2203	4300	6503	SO:0001819	synonymous_variant	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46972778G>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.96G>A	1.37:g.46972778G>A						DMBX1_uc001cpw.3_Silent_p.Q32Q	p.Q32Q	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			0	111	+	Acute lymphoblastic leukemia(166;0.155)		32			Interacts with OXT2 and is required for repressor activity (By similarity).			Silent	SNP	ENST00000360032.3	37	c.96G>A	CCDS536.1																																																																																				0.642	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1		
ZCCHC11	23318	broad.mit.edu	37	1	52981638	52981638	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:52981638C>G	ENST00000371544.3	-	3	1069	c.807G>C	c.(805-807)ttG>ttC	p.L269F	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.L269F|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L269F|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	269					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTCAGGTGTCAATGCAGATT	0.343																																						uc001cty.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(805-807)ttG>ttC		Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.							135.0	124.0	128.0					1																	52981638		2202	4300	6502	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52981638C>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.807G>C	1.37:g.52981638C>G	ENSP00000360599:p.Leu269Phe					ZCCHC11_uc001ctx.2_Missense_Mutation_p.L269F|ZCCHC11_uc009vze.1_Missense_Mutation_p.L269F|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L28F|ZCCHC11_uc001cub.3_Missense_Mutation_p.L269F|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.L269F	p.L269F	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN			2	1060	-			269					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.807G>C	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747763	0.69533	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723;ENST00000355809	T;T;T;T;D	0.83250	1.12;1.12;1.12;1.12;-1.7	5.26	5.26	0.73747	.	0.511408	0.19267	N	0.118514	D	0.89347	0.6689	M	0.75264	2.295	0.38390	D	0.94537	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.942;0.996;0.997;0.999;0.997	D	0.89453	0.3731	10	0.48119	T	0.1	.	9.5668	0.39402	0.0:0.8446:0.0:0.1554	.	28;269;269;269;269	E9PKX1;E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;.;TUT4_HUMAN	F	269;269;269;28;269	ENSP00000257177:L269F;ENSP00000360599:L269F;ENSP00000433486:L269F;ENSP00000435256:L28F;ENSP00000348063:L269F	ENSP00000257177:L269F	L	-	3	2	ZCCHC11	52754226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.882000	0.28186	2.474000	0.83562	0.655000	0.94253	TTG		0.343	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
LRRC7	57554	broad.mit.edu	37	1	70477511	70477511	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:70477511T>C	ENST00000035383.5	+	10	952	c.922T>C	c.(922-924)Tgt>Cgt	p.C308R	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Missense_Mutation_p.C313R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	308						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTGTAGCTGTAATGAACT	0.328																																						uc001dep.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(922-924)Tgt>Cgt		Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.							50.0	50.0	50.0					1																	70477511		2201	4297	6498	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70477511T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.922T>C	1.37:g.70477511T>C	ENSP00000035383:p.Cys308Arg					LRRC7_uc009wbg.3_5'UTR	p.C308R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			9	952	+			308					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.922T>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.837780	0.50951	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.22945	2.05;1.93	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.02854	-0.475	0.80722	D	1	P	0.49961	0.93	P	0.51487	0.671	T	0.23261	-1.0193	10	0.12430	T	0.62	.	14.0602	0.64795	0.0:0.0:0.0:1.0	.	308	Q96NW7	LRRC7_HUMAN	R	313;308;131	ENSP00000309245:C313R;ENSP00000035383:C308R	ENSP00000035383:C308R	C	+	1	0	LRRC7	70250099	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.599000	0.82757	2.057000	0.61298	0.528000	0.53228	TGT		0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
FAM46C	54855	broad.mit.edu	37	1	118166577	118166577	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:118166577G>A	ENST00000369448.3	+	2	1334	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	363										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGCCCCTTACGTCAGTGATGG	0.557			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												uc021osq.1				Rec	yes		1	1p12	54855	"""Mis, F, O"""	"""family with sequence similarity 46, member C"""			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1087-1089)Gtc>Atc		Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.							107.0	88.0	94.0					1																	118166577		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166577G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.1087G>A	1.37:g.118166577G>A	ENSP00000358458:p.Val363Ile	Multiple Myeloma(3;1.13e-06)				FAM46C_uc001ehe.3_Missense_Mutation_p.V363I	p.V363I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	0	1087	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	363					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.1087G>A	CCDS896.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651765	0.29336	.	.	ENSG00000183508	ENST00000369448	T	0.23950	1.88	5.7	4.78	0.61160	.	0.000000	0.64402	D	0.000009	T	0.17746	0.0426	L	0.38733	1.17	0.58432	D	0.999995	D	0.67145	0.996	P	0.51945	0.685	T	0.01504	-1.1338	10	0.18710	T	0.47	-20.2044	14.1964	0.65675	0.0732:0.0:0.9268:0.0	.	363	Q5VWP2	FA46C_HUMAN	I	363	ENSP00000358458:V363I	ENSP00000358458:V363I	V	+	1	0	FAM46C	117968100	1.000000	0.71417	0.948000	0.38648	0.284000	0.27059	5.418000	0.66429	2.686000	0.91538	0.655000	0.94253	GTC		0.557	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709	
PDE4DIP	9659	broad.mit.edu	37	1	144863324	144863324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:144863324delG	ENST00000369354.3	-	37	6268	c.6079delC	c.(6079-6081)ctgfs	p.L2027fs	PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.L2163fs|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.L2112fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.L2027fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.L1921fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2027					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATACCTTTCAGCCCCTTCTTG	0.488			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6079-6081)ctgfs		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							160.0	157.0	158.0					1																	144863324		2203	4300	6503	SO:0001589	frameshift_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144863324delG	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6079delC	1.37:g.144863324delG	ENSP00000358360:p.Leu2027fs					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Frame_Shift_Del_p.L2027fs|PDE4DIP_uc001elx.4_Frame_Shift_Del_p.L1921fs|PDE4DIP_uc001elv.4_Frame_Shift_Del_p.L1034fs|PDE4DIP_uc001ema.3_3'UTR	p.L2027fs	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	36	6381	-			2027					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000369354.3	37	c.6079delC	CCDS30824.1																																																																																				0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
RGS4	5999	broad.mit.edu	37	1	163044147	163044147	+	Missense_Mutation	SNP	C	C	T	rs376893352	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:163044147C>T	ENST00000367909.6	+	5	755	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	RGS4_ENST00000531057.1_Intron|RGS4_ENST00000421743.2_Missense_Mutation_p.R236W|RGS4_ENST00000367908.4_Missense_Mutation_p.P83L|RGS4_ENST00000367906.3_Missense_Mutation_p.R121W|RGS4_ENST00000527809.1_Missense_Mutation_p.R121W|RGS4_ENST00000491263.1_3'UTR	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	139	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAGACAAGCCGGAACATGCT	0.507													C|||	5	0.000998403	0.0	0.0	5008	,	,		19518	0.004		0.0	False		,,,				2504	0.001				Ovarian(76;1257 1738 3039 6086)	uc001gcl.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(706-708)Cgg>Tgg		Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.							204.0	209.0	207.0					1																	163044147		2203	4300	6503	SO:0001583	missense	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163044147C>T	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.415C>T	1.37:g.163044147C>T	ENSP00000356885:p.Arg139Trp					RGS4_uc009wuy.3_Missense_Mutation_p.R139W|RGS4_uc009wuz.3_Missense_Mutation_p.P83L|RGS4_uc009wva.3_Missense_Mutation_p.R121W	p.R236W	NM_001102445	NP_001106851	P49798	RGS4_HUMAN			5	1035	+			139					A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	c.706C>T	CCDS1243.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.65|18.65	3.670153|3.670153	0.67814|0.67814	.|.	.|.	ENSG00000117152|ENSG00000117152	ENST00000367908|ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906;ENST00000528938	.|T;T;T;T;T	.|0.02015	.|4.5;4.5;4.5;4.5;4.5	4.81|4.81	3.89|3.89	0.44902|0.44902	.|Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	.|0.305437	.|0.34314	.|N	.|0.004074	T|T	0.01061|0.01061	0.0035|0.0035	.|.	.|.	.|.	.|.	.|.	.|.	B|P;D	0.25743|0.56968	0.133|0.606;0.978	B|B;B	0.16722|0.39935	0.016|0.111;0.314	T|T	0.54873|0.54873	-0.8228|-0.8228	6|8	0.62326|0.87932	D|D	0.03|0	.|.	10.1226|10.1226	0.42630|0.42630	0.3971:0.6029:0.0:0.0|0.3971:0.6029:0.0:0.0	.|.	83|139;236	B1APZ3|P49798;A7XA59	.|RGS4_HUMAN;.	L|W	83|236;139;121;121;121	.|ENSP00000397181:R236W;ENSP00000356885:R139W;ENSP00000433261:R121W;ENSP00000356882:R121W;ENSP00000432194:R121W	ENSP00000356884:P83L|ENSP00000356882:R121W	P|R	+|+	2|1	0|2	RGS4|RGS4	161310771|161310771	0.983000|0.983000	0.35010|0.35010	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	0.855000|0.855000	0.27805|0.27805	1.184000|1.184000	0.42957|0.42957	-0.274000|-0.274000	0.10170|0.10170	CCG|CGG		0.507	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613	
C1orf112	55732	broad.mit.edu	37	1	169811564	169811564	+	Missense_Mutation	SNP	G	G	A	rs376679451		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:169811564G>A	ENST00000286031.6	+	18	2432	c.1732G>A	c.(1732-1734)Gta>Ata	p.V578I	C1orf112_ENST00000359326.4_Missense_Mutation_p.V578I|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	578										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAGAACACAGTACTGTCTGC	0.403																																						uc001ggq.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(1732-1734)Gta>Ata		Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.							155.0	147.0	150.0					1																	169811564		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169811564G>A	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1732G>A	1.37:g.169811564G>A	ENSP00000286031:p.Val578Ile					C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Missense_Mutation_p.V578I|C1orf112_uc009wvt.3_Missense_Mutation_p.V255I|C1orf112_uc009wvu.1_Missense_Mutation_p.V454I|C1orf112_uc001ggr.3_Missense_Mutation_p.V443I|C1orf112_uc010plv.2_Missense_Mutation_p.V520I	p.V578I	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN			17	2432	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		578					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.1732G>A	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	G	8.078	0.771792	0.16051	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.41400	1.0;1.0	5.18	3.3	0.37823	.	1.227780	0.05293	N	0.521557	T	0.13372	0.0324	L	0.34521	1.04	0.22648	N	0.998896	B;B	0.17268	0.021;0.021	B;B	0.15484	0.013;0.013	T	0.26538	-1.0100	10	0.18710	T	0.47	0.4256	8.3751	0.32438	0.0845:0.1655:0.7499:0.0	.	520;578	B4DGF2;Q9NSG2	.;CA112_HUMAN	I	578	ENSP00000352276:V578I;ENSP00000286031:V578I	ENSP00000286031:V578I	V	+	1	0	C1orf112	168078188	0.233000	0.23772	0.122000	0.21767	0.693000	0.40251	3.591000	0.53986	0.676000	0.31285	0.655000	0.94253	GTA		0.403	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186	
CEP350	9857	broad.mit.edu	37	1	180063490	180063490	+	Silent	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:180063490A>G	ENST00000367607.3	+	34	8668	c.8250A>G	c.(8248-8250)aaA>aaG	p.K2750K	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2750					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACTGGAAAAAATCAGCTTAC	0.358																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(8248-8250)aaA>aaG		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							44.0	44.0	44.0					1																	180063490		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180063490A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8250A>G	1.37:g.180063490A>G						CEP350_uc009wxl.2_Silent_p.K2749K|CEP350_uc001gnv.3_Silent_p.K885K|CEP350_uc001gnw.1_Silent_p.K507K|CEP350_uc001gnx.1_Silent_p.K507K	p.K2750K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			33	8633	+			2750					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.8250A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	0.299	-0.975296	0.02215	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.36	-3.16	0.05217	.	.	.	.	.	T	0.36248	0.0960	.	.	.	0.37323	D	0.909657	.	.	.	.	.	.	T	0.40117	-0.9580	4	.	.	.	.	0.7215	0.00941	0.3809:0.2219:0.2371:0.1601	.	.	.	.	D	925	.	.	N	+	1	0	CEP350	178330113	0.880000	0.30214	0.095000	0.20976	0.636000	0.38137	0.057000	0.14279	-0.189000	0.10482	-0.438000	0.05819	AAT		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
CACNA1E	777	broad.mit.edu	37	1	181479699	181479699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:181479699delC	ENST00000367573.2	+	2	353	c.353delC	c.(352-354)accfs	p.T118fs	CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.T69fs|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.T118fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.T118fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.T69fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.T118fs|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	118					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATGACAAGACCCCCATGTCC	0.527																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(352-354)accfs		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							126.0	127.0	126.0					1																	181479699		2090	4200	6290	SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181479699delC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.353delC	1.37:g.181479699delC	ENSP00000356545:p.Thr118fs					CACNA1E_uc001gow.3_Frame_Shift_Del_p.T118fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.T118fs|CACNA1E_uc009wxr.3_Frame_Shift_Del_p.T25fs	p.T118fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN			1	548	+			118					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.353delC	CCDS55664.1																																																																																				0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
TPR	7175	broad.mit.edu	37	1	186329081	186329081	+	Silent	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:186329081T>C	ENST00000367478.4	-	12	1535	c.1239A>G	c.(1237-1239)aaA>aaG	p.K413K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	413					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGTTCTCTAGTTTCTCCAAAA	0.363			T	NTRK1	papillary thyroid																																	uc001grv.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(1237-1239)aaA>aaG		Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.							130.0	115.0	119.0					1																	186329081		1833	4081	5914	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186329081T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1239A>G	1.37:g.186329081T>C						MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Silent_p.K489K	p.K413K	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	11	1536	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	413					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.1239A>G	CCDS41446.1																																																																																				0.363	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
PTPRC	5788	broad.mit.edu	37	1	198608459	198608459	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:198608459G>T	ENST00000367376.2	+	2	226	c.55G>T	c.(55-57)Gta>Tta	p.V19L	PTPRC_ENST00000442510.2_Missense_Mutation_p.V21L|PTPRC_ENST00000348564.6_Missense_Mutation_p.V21L|PTPRC_ENST00000413409.2_Missense_Mutation_p.V21L|PTPRC_ENST00000367364.1_Missense_Mutation_p.V21L|PTPRC_ENST00000598951.1_Missense_Mutation_p.V19L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V19L|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Missense_Mutation_p.V19L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	19					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGACACAGAAGTATTTGTGAC	0.338																																						uc001gur.1																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(55-57)Gta>Tta		Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.							121.0	113.0	116.0					1																	198608459		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198608459G>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.55G>T	1.37:g.198608459G>T	ENSP00000356346:p.Val19Leu					PTPRC_uc001gut.1_Missense_Mutation_p.V19L|PTPRC_uc001guq.3_Missense_Mutation_p.V19L|PTPRC_uc009wze.1_Missense_Mutation_p.V21L|PTPRC_uc009wzf.1_Missense_Mutation_p.V21L|PTPRC_uc021pgy.1_Missense_Mutation_p.V21L|PTPRC_uc010ppg.1_Missense_Mutation_p.V21L|PTPRC_uc001guu.1_Missense_Mutation_p.V21L|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	p.V19L	NM_002838	NP_002829	P08575	PTPRC_HUMAN			1	235	+			19					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.55G>T		.	.	.	.	.	.	.	.	.	.	G	13.16	2.153442	0.38021	.	.	ENSG00000081237	ENST00000367379;ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564;ENST00000367364;ENST00000413409;ENST00000418674	T;T	0.03663	4.13;3.85	5.59	1.43	0.22495	Protein tyrosine phosphatase, receptor type, N terminal (1);	1.376060	0.05340	N	0.529950	T	0.08935	0.0221	L	0.48642	1.525	0.09310	N	1	P;P;P;P;P;P;P;B	0.48503	0.802;0.835;0.911;0.911;0.454;0.454;0.454;0.379	B;B;P;P;B;B;B;B	0.51516	0.273;0.394;0.548;0.672;0.176;0.176;0.176;0.228	T	0.40251	-0.9573	10	0.66056	D	0.02	.	8.9131	0.35565	0.33:0.0:0.67:0.0	.	21;21;21;19;21;19;19;19	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;B1ALS3;E9PC28;P08575;Q0VAE8	.;.;.;.;.;.;PTPRC_HUMAN;.	L	19;21;21;19;19;19;19;19;19;19;19;19;19	ENSP00000356346:V21L;ENSP00000193532:V19L	ENSP00000271610:V19L	V	+	1	0	PTPRC	196875082	0.002000	0.14202	0.000000	0.03702	0.381000	0.30169	0.715000	0.25822	0.340000	0.23745	-0.345000	0.07892	GTA		0.338	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
RAB3GAP2	25782	broad.mit.edu	37	1	220325030	220325030	+	Missense_Mutation	SNP	G	G	A	rs202192080		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:220325030G>A	ENST00000358951.2	-	34	4060	c.3944C>T	c.(3943-3945)gCg>gTg	p.A1315V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1315					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTGGAGAAGCGCATGAGCCAG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		16991	0.0		0.001	False		,,,				2504	0.0					uc010puk.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(3943-3945)gCg>gTg		Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.		G	VAL/ALA	0,4406		0,0,2203	131.0	123.0	126.0		3944	4.9	0.0	1		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAB3GAP2	NM_012414.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1315/1394	220325030	1,13005	2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220325030G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3944C>T	1.37:g.220325030G>A	ENSP00000351832:p.Ala1315Val					RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A1315V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A895V	p.A1315V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	33	4108	-			1315					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.3944C>T	CCDS31028.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.28	1.889182	0.33348	0.0	1.16E-4	ENSG00000118873	ENST00000358951	T	0.30714	1.52	5.83	4.92	0.64577	.	0.287715	0.38720	N	0.001594	T	0.20170	0.0485	L	0.29908	0.895	0.38136	D	0.938293	D;D	0.55385	0.971;0.971	B;B	0.38020	0.263;0.263	T	0.07751	-1.0756	10	0.16896	T	0.51	.	14.6812	0.69017	0.0691:0.0:0.9309:0.0	.	1315;1315	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	V	1315	ENSP00000351832:A1315V	ENSP00000351832:A1315V	A	-	2	0	RAB3GAP2	218391653	0.998000	0.40836	0.017000	0.16124	0.369000	0.29798	5.791000	0.69045	1.471000	0.48121	0.650000	0.86243	GCG		0.507	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
ZP4	57829	broad.mit.edu	37	1	238053168	238053168	+	Splice_Site	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:238053168T>A	ENST00000366570.4	-	3	557	c.399A>T	c.(397-399)ctA>ctT	p.L133L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	133					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGCCTTTACCTAGAAGATCCA	0.547																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.e3+1		Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.							209.0	213.0	211.0					1																	238053168		2203	4300	6503	SO:0001630	splice_region_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053168T>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.400+1A>T	1.37:g.238053168T>A						LOC100130331_uc010pyc.2_Intron	p.A134_splice	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	687	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	134					B2RAE1	Silent	SNP	ENST00000366570.4	37	c.400_splice	CCDS1615.1																																																																																				0.547	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		Silent
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971278	PTEN	M	rs121909231	c.(1003-1005)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							60.0	63.0	62.0					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720852C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R335*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2035	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	335			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1003C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
COL17A1	1308	broad.mit.edu	37	10	105813706	105813706	+	Silent	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:105813706T>C	ENST00000353479.5	-	22	2096	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Silent_p.Q602Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	602	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTTGGTCCTTGTGGACCTG	0.443																																						uc001kxr.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(1804-1806)caA>caG		Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.							81.0	73.0	76.0					10																	105813706		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105813706T>C	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1806A>G	10.37:g.105813706T>C						COL17A1_uc010qqv.1_Silent_p.Q586Q	p.Q602Q	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	21	1975	-		Colorectal(252;0.103)|Breast(234;0.122)	602			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.1806A>G	CCDS7554.1																																																																																				0.443	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
WDR11	55717	broad.mit.edu	37	10	122645345	122645345	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:122645345A>G	ENST00000263461.6	+	15	2114	c.1868A>G	c.(1867-1869)aAc>aGc	p.N623S	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CCATCTCACAACTTGAAGAGC	0.488																																						uc021pzt.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(1867-1869)aAc>aGc		Homo sapiens WD repeat domain 11 (WDR11), mRNA.							139.0	137.0	138.0					10																	122645345		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122645345A>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1868A>G	10.37:g.122645345A>G	ENSP00000263461:p.Asn623Ser					WDR11_uc010qte.2_Missense_Mutation_p.N225S|WDR11_uc001lfd.1_Missense_Mutation_p.N141S	p.N623S	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			14	2114	+			623					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.1868A>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557300	0.45590	.	.	ENSG00000120008	ENST00000263461	D	0.91351	-2.83	5.56	4.41	0.53225	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85869	0.5797	L	0.47716	1.5	0.58432	D	0.999992	B;B;B	0.33883	0.147;0.063;0.43	B;B;B	0.35859	0.062;0.062;0.212	T	0.79895	-0.1610	10	0.08599	T	0.76	-26.2601	12.718	0.57125	0.8623:0.1377:0.0:0.0	.	623;623;152	Q9BZH6;B2RCJ6;Q659C9	WDR11_HUMAN;.;.	S	623	ENSP00000263461:N623S	ENSP00000263461:N623S	N	+	2	0	WDR11	122635335	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	8.923000	0.92808	0.921000	0.36994	-0.460000	0.05396	AAC		0.488	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		
OR51A2	401667	broad.mit.edu	37	11	4976146	4976146	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:4976146G>A	ENST00000380371.1	-	1	797	c.798C>T	c.(796-798)gcC>gcT	p.A266A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACATGCCCGGCAAAGCGGT	0.453																																						uc010qyt.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(796-798)gcC>gcT		Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.							102.0	82.0	89.0					11																	4976146		2063	3768	5831	SO:0001819	synonymous_variant	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976146G>A	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.798C>T	11.37:g.4976146G>A							p.A266A	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	798	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	266						Silent	SNP	ENST00000380371.1	37	c.798C>T	CCDS31368.1																																																																																				0.453	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748	
TRIM5	85363	broad.mit.edu	37	11	5699638	5699638	+	Silent	SNP	G	G	A	rs182373551		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:5699638G>A	ENST00000380034.3	-	4	796	c.540C>T	c.(538-540)aaC>aaT	p.N180N	TRIM5_ENST00000396853.4_Silent_p.N180N|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000305836.5_Silent_p.N180N|TRIM5_ENST00000380027.1_Silent_p.N180N|TRIM5_ENST00000396847.3_Silent_p.N180N|TRIM5_ENST00000396855.3_Silent_p.N180N	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	180					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTGCCAAGACGTTGGTTTTGT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19910	0.001		0.0	False		,,,				2504	0.0					uc001mbm.2																			0		p.N180S(1)|p.T179S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(538-540)aaC>aaT		Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.							115.0	111.0	113.0					11																	5699638		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5699638G>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.540C>T	11.37:g.5699638G>A						TRIM5_uc001mbq.1_Silent_p.N180N|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Silent_p.N180N|TRIM5_uc001mbp.3_Silent_p.N180N|TRIM5_uc021qcx.1_Silent_p.N180N	p.N180N	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	843	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	180					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.540C>T	CCDS31393.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.528	-0.096421	0.07010	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	1.11	0.20524	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22487	-1.0215	4	.	.	.	.	2.6533	0.05004	0.5569:0.0:0.2459:0.1972	.	.	.	.	M	57	.	.	T	-	2	0	TRIM5	5656214	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.010000	0.13242	0.076000	0.16826	0.655000	0.94253	ACG		0.473	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034	
NAV2	89797	broad.mit.edu	37	11	20065530	20065530	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:20065530G>A	ENST00000396087.3	+	14	3079	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	NAV2_ENST00000396085.1_Missense_Mutation_p.D971N|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.D971N|NAV2_ENST00000533917.1_Missense_Mutation_p.D57N|NAV2_ENST00000527559.2_Missense_Mutation_p.D923N|NAV2_ENST00000540292.1_Missense_Mutation_p.D925N|NAV2_ENST00000311043.8_Missense_Mutation_p.D57N|NAV2_ENST00000360655.4_Missense_Mutation_p.D907N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	994					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.D994N(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCACAGACTGATGCTGAGAA	0.507																																						uc010rdm.2																			1	Substitution - Missense(1)	p.D994N(2)	lung(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2980-2982)Gat>Aat		Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.							80.0	84.0	83.0					11																	20065530		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20065530G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2980G>A	11.37:g.20065530G>A	ENSP00000379396:p.Asp994Asn					NAV2_uc001mpp.3_Missense_Mutation_p.D907N|NAV2_uc001mpr.4_Missense_Mutation_p.D971N|NAV2_uc021qew.1_Missense_Mutation_p.D971N|NAV2_uc001mpt.2_Missense_Mutation_p.D57N|NAV2_uc009yhx.3_Missense_Mutation_p.D57N|NAV2_uc009yhy.1_5'UTR	p.D994N	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN			13	3341	+			994					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2980G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	37	6.149768	0.97324	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000530408;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000006	T	0.61211	0.2329	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.983	D;D;D;P	0.81914	0.995;0.995;0.979;0.743	T	0.59931	-0.7361	9	.	.	.	.	19.2155	0.93776	0.0:0.0:1.0:0.0	.	57;57;971;907	Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	N	907;971;971;994;923;925;57;57;57;57;57	ENSP00000353871:D907N;ENSP00000379394:D971N;ENSP00000309577:D971N;ENSP00000379396:D994N;ENSP00000435395:D923N;ENSP00000443489:D925N;ENSP00000437316:D57N;ENSP00000437136:D57N;ENSP00000431276:D57N;ENSP00000312169:D57N	.	D	+	1	0	NAV2	20022106	1.000000	0.71417	0.240000	0.24138	0.744000	0.42396	9.504000	0.97986	2.535000	0.85469	0.655000	0.94253	GAT		0.507	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
OR10AG1	282770	broad.mit.edu	37	11	55735214	55735214	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:55735214G>T	ENST00000312345.2	-	1	776	c.726C>A	c.(724-726)ttC>ttA	p.F242L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CTGCTCCAAAGAATAAGATTA	0.388																																						uc010rit.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(724-726)ttC>ttA		Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.							66.0	65.0	65.0					11																	55735214		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735214G>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.726C>A	11.37:g.55735214G>T	ENSP00000311477:p.Phe242Leu						p.F242L	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			0	726	-	Esophageal squamous(21;0.0137)		242					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.726C>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732166	0.69189	.	.	ENSG00000174970	ENST00000312345	T	0.00285	8.3	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.00496	0.0016	M	0.82193	2.58	0.31566	N	0.656923	P	0.46784	0.884	P	0.48571	0.582	T	0.44498	-0.9324	10	0.87932	D	0	.	16.768	0.85528	0.0:0.0:1.0:0.0	.	242	Q8NH19	O10AG_HUMAN	L	242	ENSP00000311477:F242L	ENSP00000311477:F242L	F	-	3	2	OR10AG1	55491790	0.005000	0.15991	1.000000	0.80357	0.742000	0.42306	-0.279000	0.08479	2.569000	0.86673	0.477000	0.44152	TTC		0.388	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491	
OR5B2	390190	broad.mit.edu	37	11	58189829	58189829	+	Silent	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:58189829C>A	ENST00000302581.2	-	1	957	c.906G>T	c.(904-906)gtG>gtT	p.V302V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCTTCTCAACACTTTCTTGA	0.383																																						uc010rkg.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(904-906)gtG>gtT		Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.							60.0	60.0	60.0					11																	58189829		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58189829C>A	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.906G>T	11.37:g.58189829C>A							p.V302V	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			0	958	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	302					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.906G>T	CCDS31550.1																																																																																				0.383	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566	
WDR74	54663	broad.mit.edu	37	11	62602979	62602979	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:62602979C>T	ENST00000525239.1	-	7	1079	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000311713.7_Missense_Mutation_p.R181Q|WDR74_ENST00000529106.1_Missense_Mutation_p.R181Q|WDR74_ENST00000525752.1_Missense_Mutation_p.R124Q|WDR74_ENST00000540620.1_5'UTR|RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000278856.4_Missense_Mutation_p.R181Q			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	181					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GATGGGAACCCGCAAGTCCAG	0.607																																						uc001nvm.2																			0				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						c.(541-543)cGg>cAg		Homo sapiens WD repeat domain 74 (WDR74), mRNA.							76.0	83.0	81.0					11																	62602979		1989	4166	6155	SO:0001583	missense	54663					nucleolus		g.chr11:62602979C>T		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.542G>A	11.37:g.62602979C>T	ENSP00000432119:p.Arg181Gln					WDR74_uc001nvl.2_Missense_Mutation_p.R181Q|WDR74_uc009yoi.2_Missense_Mutation_p.R181Q|WDR74_uc010rmk.2_3'UTR	p.R181Q	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN			6	710	-			181					A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	c.542G>A	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275697	0.95459	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.55	4.63	0.57726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.067256	0.64402	D	0.000011	T	0.45558	0.1348	M	0.73598	2.24	0.50039	D	0.999844	D;D;D	0.62365	0.987;0.987;0.991	P;P;P	0.54100	0.64;0.64;0.742	T	0.37888	-0.9686	10	0.40728	T	0.16	-24.8612	12.6786	0.56908	0.0:0.9179:0.0:0.0821	.	124;181;181	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	Q	181;181;181;181;124	ENSP00000308931:R181Q;ENSP00000435726:R181Q;ENSP00000432119:R181Q;ENSP00000278856:R181Q;ENSP00000432113:R124Q	ENSP00000278856:R181Q	R	-	2	0	WDR74	62359555	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.262000	0.58847	2.616000	0.88540	0.651000	0.88453	CGG		0.607	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093	
HTR3B	9177	broad.mit.edu	37	11	113813844	113813844	+	Silent	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:113813844G>T	ENST00000260191.2	+	7	1094	c.837G>T	c.(835-837)gtG>gtT	p.V279V	HTR3B_ENST00000537778.1_Silent_p.V268V	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	279					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GTGTGCTGGTGGGCTACACCG	0.572																																						uc001pok.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(835-837)gtG>gtT		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.							117.0	88.0	98.0					11																	113813844		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113813844G>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.837G>T	11.37:g.113813844G>T						HTR3B_uc001pol.3_Silent_p.V268V	p.V279V	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	6	975	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	279					B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.837G>T	CCDS8364.1																																																																																				0.572	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028	
VWF	7450	broad.mit.edu	37	12	6058287	6058287	+	Missense_Mutation	SNP	G	G	A	rs374314985		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:6058287G>A	ENST00000261405.5	-	52	8590	c.8336C>T	c.(8335-8337)aCg>aTg	p.T2779M	ANO2_ENST00000327087.8_5'Flank|ANO2_ENST00000356134.5_5'Flank|ANO2_ENST00000546188.1_5'Flank	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2779	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATGGGCTCCGTCCGTGTCGG	0.562																																						uc001qnn.1																			0		p.R2778Q(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(8335-8337)aCg>aTg		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)	G	MET/THR	0,4406		0,0,2203	102.0	83.0	89.0		8336	1.4	0.1	12		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	VWF	NM_000552.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2779/2814	6058287	1,13005	2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6058287G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8336C>T	12.37:g.6058287G>A	ENSP00000261405:p.Thr2779Met					ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	p.T2779M	NM_000552	NP_000543	P04275	VWF_HUMAN			51	8586	-			2779			CTCK.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.8336C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965903	0.34659	0.0	1.16E-4	ENSG00000110799	ENST00000261405	T	0.40476	1.03	4.89	1.4	0.22301	Cystine knot, C-terminal (3);	0.237818	0.21941	N	0.066864	T	0.50000	0.1590	M	0.88450	2.955	0.23923	N	0.996456	D	0.55605	0.972	P	0.46389	0.515	T	0.50233	-0.8852	10	0.87932	D	0	.	7.2911	0.26366	0.0948:0.0:0.6082:0.297	.	2779	P04275	VWF_HUMAN	M	2779	ENSP00000261405:T2779M	ENSP00000261405:T2779M	T	-	2	0	VWF	5928548	0.545000	0.26449	0.057000	0.19452	0.828000	0.46876	0.760000	0.26475	0.441000	0.26529	0.555000	0.69702	ACG		0.562	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
GYS2	2998	broad.mit.edu	37	12	21733300	21733300	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:21733300G>A	ENST00000261195.2	-	2	533	c.279C>T	c.(277-279)gaC>gaT	p.D93D		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	93					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TATTCATTGCGTCCACTGCTC	0.403																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(277-279)gaC>gaT		Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.							222.0	199.0	207.0					12																	21733300		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733300G>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.279C>T	12.37:g.21733300G>A							p.D93D	NM_021957	NP_068776	P54840	GYS2_HUMAN			1	534	-			93					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.279C>T	CCDS8690.1																																																																																				0.403	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
MBD6	114785	broad.mit.edu	37	12	57922312	57922312	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:57922312C>T	ENST00000355673.3	+	10	3145	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	MBD6_ENST00000431731.2_Missense_Mutation_p.P930L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	930						chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AAGGATCCACCCCCTCCCGGG	0.577																																						uc001soj.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(2788-2790)cCc>cTc		Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.							45.0	54.0	51.0					12																	57922312		2202	4300	6502	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57922312C>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2789C>T	12.37:g.57922312C>T	ENSP00000347896:p.Pro930Leu					MBD6_uc001sok.1_Missense_Mutation_p.P798L|MBD6_uc001sol.1_Non-coding_Transcript	p.P930L	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			9	3013	+			930					Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.2789C>T	CCDS8944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.77|16.77	3.214383|3.214383	0.58452|0.58452	.|.	.|.	ENSG00000166987|ENSG00000166987	ENST00000355673;ENST00000431731|ENST00000300263	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.355545|0.355545	0.23164|0.23164	N|N	0.051216|0.051216	T|T	0.40347|0.40347	0.1113|0.1113	N|N	0.08118|0.08118	0|0	0.47862|0.47862	D|D	0.999534|0.999534	B;B|.	0.34290|.	0.447;0.447|.	B;B|.	0.37451|.	0.25;0.168|.	T|T	0.32348|0.32348	-0.9910|-0.9910	9|7	0.72032|0.33141	D|T	0.01|0.24	-2.4778|-2.4778	14.1269|14.1269	0.65228|0.65228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	930;930|.	Q6P0P0;Q96DN6|.	.;MBD6_HUMAN|.	L|S	930|393	.|.	ENSP00000347896:P930L|ENSP00000300263:P393S	P|P	+|+	2|1	0|0	MBD6|MBD6	56208579|56208579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.599000|3.599000	0.54045|0.54045	2.810000|2.810000	0.96702|0.96702	0.645000|0.645000	0.84053|0.84053	CCC|CCC		0.577	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1		
ZFC3H1	196441	broad.mit.edu	37	12	72025622	72025622	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:72025622T>C	ENST00000378743.3	-	16	3764	c.3406A>G	c.(3406-3408)Atg>Gtg	p.M1136V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1136					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCACTTCCATTGTTTTACTT	0.358																																						uc001swo.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3406-3408)Atg>Gtg		Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.							102.0	94.0	96.0					12																	72025622		1818	4082	5900	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72025622T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3406A>G	12.37:g.72025622T>C	ENSP00000368017:p.Met1136Val						p.M1136V	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			15	3765	-			1136					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.3406A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	8.856	0.945788	0.18356	.	.	ENSG00000133858	ENST00000378743	T	0.28255	1.62	5.58	0.437	0.16555	.	0.292022	0.33553	N	0.004793	T	0.11965	0.0291	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14868	-1.0457	10	0.21014	T	0.42	.	5.797	0.18392	0.111:0.2579:0.0:0.631	.	1136	O60293	ZC3H1_HUMAN	V	1136	ENSP00000368017:M1136V	ENSP00000368017:M1136V	M	-	1	0	ZFC3H1	70311889	0.964000	0.33143	0.992000	0.48379	0.820000	0.46376	0.385000	0.20685	-0.086000	0.12550	-0.480000	0.04831	ATG		0.358	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
SSH1	54434	broad.mit.edu	37	12	109212060	109212060	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:109212060T>A	ENST00000326495.5	-	4	337	c.244A>T	c.(244-246)Atc>Ttc	p.I82F	SSH1_ENST00000326470.5_Missense_Mutation_p.I93F|SSH1_ENST00000546812.1_Intron|SSH1_ENST00000551165.1_Missense_Mutation_p.I82F|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	82					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAAGGTTGATCATCACCTGA	0.383																																						uc001tnm.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(244-246)Atc>Ttc		Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.							98.0	99.0	99.0					12																	109212060		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109212060T>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.244A>T	12.37:g.109212060T>A	ENSP00000315713:p.Ile82Phe					SSH1_uc010sxg.2_Missense_Mutation_p.I93F|SSH1_uc001tnn.4_Missense_Mutation_p.I82F|SSH1_uc001tno.1_5'Flank	p.I82F	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			3	331	-			82					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.244A>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521164	0.44866	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000546697	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.79	5.79	0.91817	.	0.167888	0.53938	D	0.000042	T	0.15305	0.0369	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.17038	0.006;0.013;0.02	B;B;B	0.20384	0.029;0.025;0.023	T	0.15549	-1.0433	10	0.02654	T	1	-37.2363	15.2992	0.73933	0.0:0.0:0.0:1.0	.	93;82;82	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	F	82;82;93;66	ENSP00000315713:I82F;ENSP00000448824:I82F;ENSP00000326107:I93F;ENSP00000446652:I66F	ENSP00000326107:I93F	I	-	1	0	SSH1	107736189	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.884000	0.63135	2.205000	0.71048	0.528000	0.53228	ATC		0.383	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	
ACACB	32	broad.mit.edu	37	12	109639415	109639415	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:109639415G>A	ENST00000338432.7	+	19	2941	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	ACACB_ENST00000377854.5_Missense_Mutation_p.R941Q|ACACB_ENST00000377848.3_Missense_Mutation_p.R941Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	941	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAAAGAGGCCGGGTGAAGTAC	0.542																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2821-2823)cGg>cAg		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						141.0	124.0	130.0					12																	109639415		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109639415G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2822G>A	12.37:g.109639415G>A	ENSP00000341044:p.Arg941Gln					ACACB_uc001toc.3_Missense_Mutation_p.R941Q	p.R941Q	NM_001093	NP_001084	O00763	ACACB_HUMAN			18	2941	+			941			Biotinyl-binding.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2822G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528710	0.44969	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.57273	0.41;0.41;0.41	5.52	-1.22	0.09494	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.308394	0.36002	N	0.002854	T	0.35653	0.0939	L	0.39633	1.23	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.03139	-1.1068	10	0.38643	T	0.18	.	5.6262	0.17485	0.4665:0.0:0.323:0.2105	.	941	O00763	ACACB_HUMAN	Q	941;941;941;172	ENSP00000341044:R941Q;ENSP00000367079:R941Q;ENSP00000367085:R941Q	ENSP00000341044:R941Q	R	+	2	0	ACACB	108123798	0.723000	0.28027	0.816000	0.32577	0.987000	0.75469	1.479000	0.35453	-0.573000	0.05998	0.655000	0.94253	CGG		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
CUX2	23316	broad.mit.edu	37	12	111772383	111772383	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:111772383C>T	ENST00000261726.6	+	19	3219	c.3065C>T	c.(3064-3066)tCg>tTg	p.S1022L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1022					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGCTCCTCGTTGAGCGGG	0.647																																						uc001tsa.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(3064-3066)tCg>tTg		Homo sapiens cut-like homeobox 2 (CUX2), mRNA.							31.0	37.0	35.0					12																	111772383		2045	4187	6232	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111772383C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3065C>T	12.37:g.111772383C>T	ENSP00000261726:p.Ser1022Leu						p.S1022L	NM_015267	NP_056082	O14529	CUX2_HUMAN			18	3219	+			1022					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3065C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	6.113	0.389149	0.11581	.	.	ENSG00000111249	ENST00000261726	T	0.49139	0.79	5.09	2.22	0.28083	Lambda repressor-like, DNA-binding (1);	0.580567	0.16933	N	0.193569	T	0.31104	0.0786	L	0.27053	0.805	0.25309	N	0.989213	B	0.19706	0.038	B	0.11329	0.006	T	0.18241	-1.0343	10	0.48119	T	0.1	-4.8965	6.8792	0.24163	0.142:0.7028:0.0:0.1552	.	1022	O14529	CUX2_HUMAN	L	1022	ENSP00000261726:S1022L	ENSP00000261726:S1022L	S	+	2	0	CUX2	110256766	0.000000	0.05858	0.056000	0.19401	0.038000	0.13279	1.001000	0.29783	0.247000	0.21414	-0.136000	0.14681	TCG		0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
PITPNM2	57605	broad.mit.edu	37	12	123481392	123481393	+	Frame_Shift_Ins	INS	-	-	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:123481392_123481393insC	ENST00000542749.1	-	10	1600_1601	c.1537_1538insG	c.(1537-1539)gccfs	p.A513fs	PITPNM2_ENST00000320201.4_Frame_Shift_Ins_p.A513fs|PITPNM2_ENST00000392428.1_Frame_Shift_Ins_p.A234fs|PITPNM2_ENST00000280562.5_Frame_Shift_Ins_p.A513fs			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	513					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAGGGGGAGGGCAGCCAGGGGA	0.639																																						uc001uej.1																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1537-1539)gccfs		Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.																																				SO:0001589	frameshift_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481392_123481393insC	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1538dupG	12.37:g.123481393_123481393dupC	ENSP00000437611:p.Ala513fs					PITPNM2_uc001uek.1_Frame_Shift_Ins_p.A513fs	p.A513fs	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1736_1737	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		513					Q9P271	Frame_Shift_Ins	INS	ENST00000542749.1	37	c.1537_1538insG	CCDS9242.1																																																																																				0.639	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	
DNAH10	196385	broad.mit.edu	37	12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A	rs368019409		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:124333280G>A	ENST00000409039.3	+	33	5624	c.5599G>A	c.(5599-5601)Gtg>Atg	p.V1867M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1867	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443																																						uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5599-5601)Gtg>Atg		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.		G	MET/VAL	0,4140		0,0,2070	84.0	87.0	86.0		5599	3.9	0.1	12		86	2,8458		0,2,4228	no	missense	DNAH10	NM_207437.3	21	0,2,6298	AA,AG,GG		0.0236,0.0,0.0159	benign	1867/4472	124333280	2,12598	2070	4230	6300	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124333280G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5599G>A	12.37:g.124333280G>A	ENSP00000386770:p.Val1867Met						p.V1867M	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5624	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1867			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5599G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058910	0.01950	0.0	2.36E-4	ENSG00000197653	ENST00000409039	T	0.10005	2.92	5.84	3.92	0.45320	ATPase, AAA+ type, core (1);	0.489978	0.19355	N	0.116292	T	0.02193	0.0068	N	0.00214	-1.84	0.39389	D	0.966384	B	0.32245	0.361	B	0.33890	0.172	T	0.42766	-0.9432	10	0.02654	T	1	.	10.4745	0.44657	0.2295:0.0:0.7705:0.0	.	1867	Q8IVF4	DYH10_HUMAN	M	1867	ENSP00000386770:V1867M	ENSP00000386770:V1867M	V	+	1	0	DNAH10	122899233	0.988000	0.35896	0.072000	0.20136	0.665000	0.39181	2.013000	0.40942	0.713000	0.32060	0.561000	0.74099	GTG		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
RIMBP2	23504	broad.mit.edu	37	12	130935764	130935764	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:130935764G>A	ENST00000261655.4	-	5	592	c.429C>T	c.(427-429)agC>agT	p.S143S	RIMBP2_ENST00000536002.1_Silent_p.S51S|RIMBP2_ENST00000535703.1_Silent_p.S51S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	143					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S143S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCATCTTGCGCTACCGGATC	0.637																																						uc001uil.2																			1	Substitution - coding silent(1)	p.S143S(2)|p.G142S(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(427-429)agC>agT		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							66.0	61.0	63.0					12																	130935764		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130935764G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.429C>T	12.37:g.130935764G>A						RIMBP2_uc001uim.3_Silent_p.S51S	p.S143S	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	4	645	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	143					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.429C>T	CCDS31925.1																																																																																				0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
GPR133	283383	broad.mit.edu	37	12	131620612	131620612	+	Silent	SNP	G	G	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:131620612G>C	ENST00000261654.5	+	22	2857	c.2298G>C	c.(2296-2298)ctG>ctC	p.L766L	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Silent_p.L452L|GPR133_ENST00000543617.1_Silent_p.L285L|GPR133_ENST00000535015.1_Silent_p.L798L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	766					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCGTGCTGCTGCCCATCCTGG	0.592																																						uc010tbm.2																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2392-2394)ctG>ctC		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							231.0	148.0	176.0					12																	131620612		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131620612G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2298G>C	12.37:g.131620612G>C						GPR133_uc001uit.4_Silent_p.L766L|GPR133_uc009zyo.3_Silent_p.L48L|GPR133_uc009zyp.3_Non-coding_Transcript	p.L798L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	22	2953	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		766					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2394G>C	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	6.946	0.544410	0.13312	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.6	3.7	0.42460	.	.	.	.	.	T	0.60130	0.2245	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56195	-0.8019	4	.	.	.	.	10.1507	0.42791	0.0996:0.0:0.9004:0.0	.	.	.	.	S	120	.	.	C	+	2	0	GPR133	130186565	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	1.529000	0.35996	0.903000	0.36546	0.491000	0.48974	TGC		0.592	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
ZNF140	7699	broad.mit.edu	37	12	133682985	133682985	+	Silent	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:133682985A>G	ENST00000355557.2	+	5	2405	c.1122A>G	c.(1120-1122)caA>caG	p.Q374Q	ZNF140_ENST00000544426.1_Silent_p.Q271Q|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCCTTATTCAACATACGAAGA	0.408																																						uc001ulo.3																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1120-1122)caA>caG		Homo sapiens zinc finger protein 140 (ZNF140), mRNA.							114.0	110.0	111.0					12																	133682985		2203	4300	6503	SO:0001819	synonymous_variant	7699					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133682985A>G	U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"""Zinc fingers, C2H2-type"", ""-"""	12925	protein-coding gene	gene with protein product		604082	"""zinc finger protein 140 (clone pHZ-39)"""			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.1122A>G	12.37:g.133682985A>G						ZNF140_uc001ulp.3_Silent_p.Q271Q|ZNF140_uc010tbu.2_Silent_p.Q271Q	p.Q374Q	NM_003440	NP_003431	P52738	ZN140_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	4	1792	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)	374					D3DXJ3|Q05CP6|Q8IV75	Silent	SNP	ENST00000355557.2	37	c.1122A>G	CCDS9282.1																																																																																				0.408	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440	
RFX7	64864	broad.mit.edu	37	15	56386880	56386881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr15:56386880_56386881insG	ENST00000559447.2	-	9	3025_3026	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	RFX7_ENST00000423270.1_Frame_Shift_Ins_p.S1016fs|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.S1016fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.S919fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	919					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCAACAGGGCTGGGGGGGACAC	0.5																																						uc010bfn.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3043-3048)cccagcfs		Homo sapiens regulatory factor X, 7 (RFX7), mRNA.																																				SO:0001589	frameshift_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56386880_56386881insG			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2755dupC	15.37:g.56386887_56386887dupG	ENSP00000453281:p.Ser919fs					RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Frame_Shift_Ins_p.P829fs	p.P1015fs	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			8	3045_3046	-			918					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Ins	INS	ENST00000559447.2	37	c.3045_3046insC																																																																																					0.500	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	
SKOR1	390598	broad.mit.edu	37	15	68118859	68118859	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr15:68118859C>T	ENST00000380035.2	+	2	751	c.693C>T	c.(691-693)gaC>gaT	p.D231D	SKOR1_ENST00000554240.1_Silent_p.D192D|SKOR1_ENST00000389002.1_Silent_p.D222D|SKOR1_ENST00000554054.1_Silent_p.D203D|SKOR1_ENST00000341418.5_Silent_p.D417D			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	231					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.D231D(1)|p.D222D(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GAACACCCGACGCCAAGTACA	0.572																																						uc002aqy.1																			2	Substitution - coding silent(2)	p.D222D(2)|p.D231D(1)	endometrium(2)	endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(664-666)gaC>gaT		Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.							109.0	87.0	94.0					15																	68118859		2200	4298	6498	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118859C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.693C>T	15.37:g.68118859C>T							p.D222D	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			1	666	+			231					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.666C>T																																																																																					0.572	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807	
C15orf32	145858	broad.mit.edu	37	15	93015653	93015653	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr15:93015653T>C	ENST00000333334.2	+	1	770	c.275T>C	c.(274-276)gTg>gCg	p.V92A	RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Missense_Mutation_p.V92A	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	92										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			agctcacgagtggATGGTTTG	0.413																																						uc002brc.1																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12						c.(274-276)gTg>gCg		Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.							69.0	72.0	71.0					15																	93015653		2198	4298	6496	SO:0001583	missense	145858							g.chr15:93015653T>C		CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.275T>C	15.37:g.93015653T>C	ENSP00000330267:p.Val92Ala					C15orf32_uc010bod.1_Non-coding_Transcript	p.V92A	NM_153040	NP_694585	Q32M92	CO032_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		0	747	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		92					C5HTZ8|Q96M45	Missense_Mutation	SNP	ENST00000333334.2	37	c.275T>C	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	T	5.620	0.299135	0.10622	.	.	ENSG00000183643	ENST00000333334	T	0.54866	0.55	2.42	-0.897	0.10553	.	.	.	.	.	T	0.29914	0.0748	N	0.14661	0.345	0.09310	N	1	P	0.35507	0.506	B	0.32980	0.156	T	0.17410	-1.0370	9	0.87932	D	0	.	5.3949	0.16263	0.0:0.508:0.0:0.492	.	92	Q32M92	CO032_HUMAN	A	92	ENSP00000330267:V92A	ENSP00000330267:V92A	V	+	2	0	C15orf32	90816657	0.006000	0.16342	0.001000	0.08648	0.003000	0.03518	-0.157000	0.10085	-0.213000	0.10094	0.533000	0.62120	GTG		0.413	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040	
UNKL	64718	broad.mit.edu	37	16	1449391	1449391	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr16:1449391G>A	ENST00000389221.4	-	5	717	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	UNKL_ENST00000301712.5_Missense_Mutation_p.R240W|UNKL_ENST00000508903.2_Missense_Mutation_p.R240W|UNKL_ENST00000503648.1_5'Flank|UNKL_ENST00000397462.1_Missense_Mutation_p.R343W	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	240					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TGGAACCGCCGGGGGTTGCGC	0.701																																						uc010brn.2																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(718-720)Cgg>Tgg		Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.							26.0	24.0	25.0					16																	1449391		2194	4300	6494	SO:0001583	missense	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1449391G>A	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.718C>T	16.37:g.1449391G>A	ENSP00000373873:p.Arg240Trp					UNKL_uc002clq.3_Missense_Mutation_p.R240W	p.R240W	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN			4	731	-		Hepatocellular(780;0.0893)	240					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	c.718C>T	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772849	0.49680	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462;ENST00000301712	T	0.68331	-0.32	4.22	-7.1	0.01547	.	0.000000	0.85682	D	0.000000	T	0.79695	0.4490	M	0.88450	2.955	0.42406	D	0.99258	D	0.89917	1.0	D	0.70016	0.967	D	0.84709	0.0733	10	0.87932	D	0	.	15.8153	0.78595	0.0:0.0:0.2488:0.7512	.	240	Q9H9P5-5	.	W	240;240;343;240	ENSP00000373873:R240W	ENSP00000301712:R240W	R	-	1	2	UNKL	1389392	0.041000	0.20044	0.016000	0.15963	0.530000	0.34684	0.194000	0.17135	-0.737000	0.04824	0.561000	0.74099	CGG		0.701	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125	
FBXO31	79791	broad.mit.edu	37	16	87368933	87368933	+	Missense_Mutation	SNP	G	G	A	rs202184616		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr16:87368933G>A	ENST00000311635.7	-	7	985	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	RP11-178L8.4_ENST00000568879.1_5'Flank	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	325					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCCCTGGCACGCCGGCCGTGG	0.662													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15403	0.0		0.0	False		,,,				2504	0.0					uc002fjw.3																			0		p.F324F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(973-975)Cgt>Tgt		Homo sapiens F-box protein 31 (FBXO31), mRNA.							59.0	57.0	58.0					16																	87368933		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87368933G>A	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.973C>T	16.37:g.87368933G>A	ENSP00000310841:p.Arg325Cys					FBXO31_uc010vot.2_Missense_Mutation_p.R153C|FBXO31_uc002fjv.3_Missense_Mutation_p.R217C	p.R325C	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	6	1017	-			325					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.973C>T	CCDS32501.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.60	1.987852	0.35036	.	.	ENSG00000103264	ENST00000311635	T	0.67865	-0.29	4.92	-3.4	0.04853	.	1.601350	0.02769	N	0.119447	T	0.35998	0.0951	N	0.02802	-0.49	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.06405	0.001;0.002	T	0.11767	-1.0574	10	0.35671	T	0.21	-1.4124	0.999	0.01473	0.3684:0.1011:0.1685:0.362	.	325;217	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	C	325	ENSP00000310841:R325C	ENSP00000310841:R325C	R	-	1	0	FBXO31	85926434	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	0.743000	0.26231	-0.403000	0.07622	0.561000	0.74099	CGT		0.662	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735	
OR1G1	8390	broad.mit.edu	37	17	3029921	3029921	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:3029921T>C	ENST00000328890.2	-	1	954	c.925A>G	c.(925-927)Aaa>Gaa	p.K309E		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	309					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GAATGAATTTTCCGAACCCAG	0.428																																					Colon(127;1481 1654 8243 19426 50557)	uc002fvc.1																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(925-927)Aaa>Gaa		Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.							70.0	66.0	67.0					17																	3029921		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3029921T>C	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.925A>G	17.37:g.3029921T>C	ENSP00000331545:p.Lys309Glu						p.K309E	NM_003555	NP_003546	P47890	OR1G1_HUMAN			0	925	-			309					Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.925A>G	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	T	9.252	1.041035	0.19669	.	.	ENSG00000183024	ENST00000328890	T	0.40225	1.04	3.91	3.91	0.45181	.	.	.	.	.	T	0.30293	0.0760	L	0.39898	1.24	0.09310	N	1	P	0.43477	0.808	B	0.35607	0.206	T	0.07347	-1.0777	9	0.23891	T	0.37	.	11.1498	0.48451	0.0:0.0:0.0:1.0	.	309	P47890	OR1G1_HUMAN	E	309	ENSP00000331545:K309E	ENSP00000331545:K309E	K	-	1	0	OR1G1	2976671	.	.	0.195000	0.23364	0.028000	0.11728	.	.	1.800000	0.52685	0.427000	0.28365	AAA		0.428	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2		
SLC6A4	6532	broad.mit.edu	37	17	28545202	28545202	+	Missense_Mutation	SNP	T	T	G	rs184149069		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:28545202T>G	ENST00000401766.2	-	4	1144	c.632A>C	c.(631-633)aAt>aCt	p.N211T	SLC6A4_ENST00000261707.3_Missense_Mutation_p.N211T			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	211					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GGAGAAGTAATTGGTGCAGTT	0.542																																						uc002hey.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(631-633)aAt>aCt		Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						238.0	207.0	217.0					17																	28545202		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28545202T>G	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.632A>C	17.37:g.28545202T>G	ENSP00000385822:p.Asn211Thr						p.N211T	NM_001045	NP_001036	P31645	SC6A4_HUMAN			4	1176	-			211					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.632A>C	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262388	0.39995	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.74632	-0.86;-0.86	6.17	6.17	0.99709	.	0.092812	0.85682	D	0.000000	T	0.64046	0.2563	L	0.31120	0.905	0.42217	D	0.99183	B	0.06786	0.001	B	0.12837	0.008	T	0.59632	-0.7418	10	0.37606	T	0.19	.	13.0997	0.59212	0.0:0.0:0.1331:0.8669	.	211	P31645	SC6A4_HUMAN	T	253;211;211	ENSP00000385822:N211T;ENSP00000261707:N211T	ENSP00000261707:N211T	N	-	2	0	SLC6A4	25569328	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.767000	0.38501	2.371000	0.80710	0.533000	0.62120	AAT		0.542	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045	
ZNHIT3	9326	broad.mit.edu	37	17	34851065	34851065	+	Splice_Site	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:34851065A>G	ENST00000225410.4	+	5	351		c.e5-1		ZNHIT3_ENST00000490126.2_Splice_Site|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000592616.1_Intron	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GTTAATTTTTAGGGGAATCTG	0.403																																					Pancreas(89;112 2361 26810)	uc002hms.1																			0				lung(1)|pancreas(1)|prostate(1)	3						c.e5-2		Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.							96.0	93.0	94.0					17																	34851065		2203	4300	6503	SO:0001630	splice_region_variant	9326				regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	g.chr17:34851065A>G	L40410	CCDS11312.1, CCDS62156.1	17q21.1	2014-04-10	2010-09-15	2005-09-08	ENSG00000108278	ENSG00000273611		"""Zinc fingers, HIT-type"""	12309	protein-coding gene	gene with protein product		604500	"""thyroid hormone receptor interactor 3"", ""zinc finger, HIT type 3"""	TRIP3		7776974	Standard	NM_004773		Approved		uc002hms.1	Q15649	OTTHUMG00000188436	ENST00000225410.4:c.287-1A>G	17.37:g.34851065A>G						ZNHIT3_uc002hmt.1_Splice_Site|ZNHIT3_uc010cut.1_Intron	p.G96_splice	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)	5	358	+		Breast(25;0.00957)|Ovarian(249;0.17)	96					A8K493|K7EQP1|Q8WVJ3	Splice_Site	SNP	ENST00000225410.4	37	c.287_splice	CCDS11312.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.698086	0.48307	.	.	ENSG00000108278	ENST00000225410	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6462	0.77055	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNHIT3	31925178	1.000000	0.71417	0.973000	0.42090	0.335000	0.28730	7.295000	0.78780	2.371000	0.80710	0.533000	0.62120	.		0.403	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	NM_004773	Intron
TNS4	84951	broad.mit.edu	37	17	38652473	38652473	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:38652473C>T	ENST00000254051.6	-	2	363	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	69					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCTGTGGGGCTTGCTGGAGT	0.652																																						uc010cxb.3																			0		p.A69V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(205-207)Gcc>Acc		Homo sapiens tensin 4 (TNS4), mRNA.							38.0	41.0	40.0					17																	38652473		2203	4300	6503	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38652473C>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.205G>A	17.37:g.38652473C>T	ENSP00000254051:p.Ala69Thr						p.A69T	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		1	369	-		Breast(137;0.000496)	69					A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.205G>A	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486702	0.26686	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19394	2.15	5.43	2.14	0.27477	.	3.877480	0.00589	N	0.000349	T	0.16642	0.0400	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.17501	-1.0367	10	0.26408	T	0.33	-6.7322	4.6967	0.12808	0.1702:0.651:0.0:0.1788	.	69	Q8IZW8	TENS4_HUMAN	T	69	ENSP00000254051:A69T	ENSP00000254051:A69T	A	-	1	0	TNS4	35905999	0.000000	0.05858	0.585000	0.28666	0.280000	0.26924	-0.645000	0.05409	0.645000	0.30675	0.637000	0.83480	GCC		0.652	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865	
MRC2	9902	broad.mit.edu	37	17	60758249	60758249	+	Silent	SNP	G	G	A	rs150592174		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:60758249G>A	ENST00000303375.5	+	17	2964	c.2562G>A	c.(2560-2562)acG>acA	p.T854T	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	854	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCATCTGCACGTGGTTCCAGG	0.637																																						uc002jad.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2560-2562)acG>acA		Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	27.0	26.0	26.0		2562	-3.9	1.0	17	dbSNP_134	26	0,8600		0,0,4300	no	coding-synonymous	MRC2	NM_006039.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		854/1480	60758249	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60758249G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2562G>A	17.37:g.60758249G>A						MRC2_uc002jae.3_5'UTR|MRC2_uc002jaf.3_5'Flank	p.T854T	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			16	2964	+			854			C-type lectin 5.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.2562G>A	CCDS11634.1																																																																																				0.637	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1		
ZNF521	25925	broad.mit.edu	37	18	22806841	22806841	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr18:22806841G>A	ENST00000361524.3	-	4	1189	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	ZNF521_ENST00000538137.2_Silent_p.V347V|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.V127V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	347					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCCCACCGTGACCAGGGAAG	0.542			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1039-1041)gtC>gtT		Homo sapiens zinc finger protein 521 (ZNF521), mRNA.							98.0	89.0	92.0					18																	22806841		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806841G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1041C>T	18.37:g.22806841G>A						ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.V347V|ZNF521_uc002kvl.2_Silent_p.V127V	p.V347V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			3	1288	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		347					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.1041C>T	CCDS32806.1																																																																																				0.542	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
TMPRSS9	360200	broad.mit.edu	37	19	2421886	2421886	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:2421886C>G	ENST00000332578.3	+	13	2087	c.2087C>G	c.(2086-2088)gCc>gGc	p.A696G		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	696	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGCGAGGAGGCCCCTGGCGTG	0.617																																						uc010xgx.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2086-2088)gCc>gGc		Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.							57.0	61.0	60.0					19																	2421886		2203	4299	6502	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2421886C>G	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2087C>G	19.37:g.2421886C>G	ENSP00000330264:p.Ala696Gly						p.A696G	NM_182973	NP_892018	Q7Z410	TMPS9_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)	12	2087	+			696			Peptidase S1 2.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.2087C>G	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695009	0.48202	.	.	ENSG00000178297	ENST00000332578	D	0.87729	-2.29	4.42	4.42	0.53409	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.529637	0.17970	N	0.155914	T	0.74943	0.3783	N	0.04275	-0.24	0.26431	N	0.975939	B	0.29862	0.259	B	0.36608	0.229	T	0.65780	-0.6085	10	0.25751	T	0.34	.	11.6191	0.51106	0.0:0.8194:0.1806:0.0	.	696	Q7Z410	TMPS9_HUMAN	G	696	ENSP00000330264:A696G	ENSP00000330264:A696G	A	+	2	0	TMPRSS9	2372886	0.002000	0.14202	0.799000	0.32177	0.652000	0.38707	1.068000	0.30629	2.006000	0.58801	0.561000	0.74099	GCC		0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973	
HOOK2	29911	broad.mit.edu	37	19	12876795	12876795	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:12876795G>A	ENST00000397668.3	-	16	1618	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	HOOK2_ENST00000264827.5_Silent_p.A515A|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	515	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCTCCACCTGGGCCCGCAGCT	0.672											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002muy.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1543-1545)gcC>gcT		Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.							52.0	60.0	57.0					19																	12876795		1987	4153	6140	SO:0001819	synonymous_variant	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12876795G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1545C>T	19.37:g.12876795G>A			OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_uc002muz.2_Silent_p.A515A	p.A515A	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			15	1716	-			515			Sufficient for interaction with microtubules.		O60562	Silent	SNP	ENST00000397668.3	37	c.1545C>T	CCDS42508.1																																																																																				0.672	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312	
RYR1	6261	broad.mit.edu	37	19	38954119	38954119	+	Silent	SNP	C	C	T	rs202233201	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:38954119C>T	ENST00000359596.3	+	21	2634	c.2634C>T	c.(2632-2634)caC>caT	p.H878H	RYR1_ENST00000360985.3_Silent_p.H878H|RYR1_ENST00000355481.4_Silent_p.H878H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	878	6 X approximate repeats.				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)			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)	AGAACATCCACGAGCTCTGGG	0.662													C|||	3	0.000599042	0.0015	0.0	5008	,	,		13617	0.001		0.0	False		,,,				2504	0.0					uc002oit.3																			0				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						c.(2632-2634)caC>caT		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)	C	,	3,4403	6.2+/-15.9	0,3,2200	36.0	36.0	36.0		2634,2634	-0.4	1.0	19		36	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	878/5039,878/5034	38954119	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:38954119C>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.2634C>T	19.37:g.38954119C>T						RYR1_uc002oiu.3_Silent_p.H878H	p.H878H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2764	+	all_cancers(60;7.91e-06)		878			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2634C>T	CCDS33011.1																																																																																				0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
PRKD2	25865	broad.mit.edu	37	19	47181674	47181674	+	Missense_Mutation	SNP	A	A	C	rs55933311		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:47181674A>C	ENST00000291281.4	-	16	2542	c.2317T>G	c.(2317-2319)Tgg>Ggg	p.W773G	DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.W616G|PRKD2_ENST00000433867.1_Missense_Mutation_p.W773G|PRKD2_ENST00000593492.1_5'Flank|PRKD2_ENST00000595515.1_Missense_Mutation_p.W773G|PRKD2_ENST00000600194.1_Missense_Mutation_p.W616G			Q9BZL6	KPCD2_HUMAN	protein kinase D2	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		W -> R (in dbSNP:rs55933311). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|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 fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		ATGTGGCTCCAGGGGCTGGCC	0.642																																						uc002pfh.3																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(2317-2319)Tgg>Ggg		Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.																																				SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47181674A>C	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2317T>G	19.37:g.47181674A>C	ENSP00000291281:p.Trp773Gly					PRKD2_uc010eks.3_Missense_Mutation_p.W176G|PRKD2_uc010ekt.3_Missense_Mutation_p.W40G|PRKD2_uc002pfg.3_Missense_Mutation_p.W616G|PRKD2_uc002pfi.3_Missense_Mutation_p.W773G|PRKD2_uc002pfj.3_Missense_Mutation_p.W773G|PRKD2_uc010xye.2_Missense_Mutation_p.W773G|PRKD2_uc002pfk.3_Missense_Mutation_p.W616G	p.W773G	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	16	2659	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	773		W -> R (in dbSNP:rs55933311).	Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.2317T>G	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286882	0.80803	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.82344	-1.6;-1.6	4.65	4.65	0.58169	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	0.64402	U	0.000006	D	0.90376	0.6988	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.91621	0.5311	10	0.87932	D	0	-26.3585	13.3949	0.60846	1.0:0.0:0.0:0.0	.	773;258;773	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	G	773	ENSP00000291281:W773G;ENSP00000393978:W773G	ENSP00000291281:W773G	W	-	1	0	PRKD2	51873514	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.238000	0.95380	1.872000	0.54250	0.460000	0.39030	TGG		0.642	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457	
SLC6A16	28968	broad.mit.edu	37	19	49812323	49812323	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:49812323A>T	ENST00000335875.4	-	7	1280	c.1039T>A	c.(1039-1041)Ttg>Atg	p.L347M	SLC6A16_ENST00000454748.3_Missense_Mutation_p.L347M|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	347					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GTGTTAGACAAAACTTGACCC	0.478																																						uc002pmz.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1039-1041)Ttg>Atg		Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.							172.0	160.0	164.0					19																	49812323		2015	4159	6174	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812323A>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1039T>A	19.37:g.49812323A>T	ENSP00000338627:p.Leu347Met					SLC6A16_uc002pna.3_Missense_Mutation_p.L347M|MIR4324_uc021uxj.1_5'Flank	p.L347M	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	6	1273	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	347					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.1039T>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146529	0.57044	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.75938	-0.98;-0.98	4.38	2.26	0.28386	.	0.258863	0.38111	N	0.001801	T	0.81375	0.4809	M	0.69823	2.125	0.23559	N	0.997417	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.69960	-0.5003	10	0.87932	D	0	.	5.8649	0.18768	0.7402:0.1683:0.0914:0.0	.	347;347	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	M	347	ENSP00000338627:L347M;ENSP00000404022:L347M	ENSP00000338627:L347M	L	-	1	2	SLC6A16	54504135	0.753000	0.28349	0.004000	0.12327	0.004000	0.04260	1.583000	0.36579	0.437000	0.26423	0.459000	0.35465	TTG		0.478	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037	
SIGLEC9	27180	broad.mit.edu	37	19	51630344	51630344	+	Missense_Mutation	SNP	G	G	A	rs149764192	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:51630344G>A	ENST00000250360.3	+	4	873	c.806G>A	c.(805-807)cGc>cAc	p.R269H	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.R269H	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	269	Ig-like C2-type 2.			R -> H (in Ref. 2; AAF87223). {ECO:0000305}.	cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CAGTCTCTGCGCCTGGTCTGT	0.562																																						uc010yct.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(805-807)cGc>cAc		Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	105.0	102.0	103.0		806,806	1.1	0.0	19	dbSNP_134	103	2,8598		0,2,4298	yes	missense,missense	SIGLEC9	NM_001198558.1,NM_014441.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	269/480,269/464	51630344	2,13004	2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630344G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.806G>A	19.37:g.51630344G>A	ENSP00000250360:p.Arg269His					SIGLEC9_uc002pvu.3_Missense_Mutation_p.R269H	p.R269H	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	3	901	+		all_neural(266;0.0529)	269	R -> H (in Ref. 2; AAF87223).		Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.806G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	10.32	1.317356	0.23908	0.0	2.33E-4	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.12672	2.66;2.66	2.3	1.12	0.20585	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.194783	0.25523	N	0.030096	T	0.13072	0.0317	M	0.70903	2.155	0.09310	N	1	B	0.33857	0.429	B	0.34242	0.178	T	0.11641	-1.0579	10	0.44086	T	0.13	.	3.424	0.07403	0.2788:0.0:0.7212:0.0	.	269	Q9Y336	SIGL9_HUMAN	H	269	ENSP00000413861:R269H;ENSP00000250360:R269H	ENSP00000250360:R269H	R	+	2	0	SIGLEC9	56322156	0.000000	0.05858	0.006000	0.13384	0.173000	0.22820	-1.415000	0.02469	1.127000	0.42034	0.407000	0.27541	CGC		0.562	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441	
ZNF581	51545	broad.mit.edu	37	19	56155985	56155985	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:56155985C>T	ENST00000587252.1	+	2	321	c.48C>T	c.(46-48)tcC>tcT	p.S16S	ZNF581_ENST00000270451.5_Silent_p.S16S|ZNF581_ENST00000588537.1_Silent_p.S16S			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CATTTTCCTCCGTTGAGACCA	0.617																																						uc002qln.3																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(46-48)tcC>tcT		Homo sapiens zinc finger protein 581 (ZNF581), mRNA.							39.0	35.0	37.0					19																	56155985		2203	4300	6503	SO:0001819	synonymous_variant	51545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56155985C>T	AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"""Zinc fingers, C2H2-type"""	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.48C>T	19.37:g.56155985C>T						ZNF581_uc002qlq.3_Silent_p.S16S|ZNF581_uc021vcb.1_Silent_p.S16S|CCDC106_uc002qlr.3_5'Flank|CCDC106_uc021vcc.1_5'Flank|CCDC106_uc021vcd.1_5'Flank	p.S16S	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	321	+		Ovarian(87;0.133)	16					B2RDM6	Silent	SNP	ENST00000587252.1	37	c.48C>T	CCDS12932.1																																																																																				0.617	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453430.1	NM_016535	
LOXL3	84695	broad.mit.edu	37	2	74761513	74761513	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:74761513G>A	ENST00000264094.3	-	11	1940	c.1869C>T	c.(1867-1869)acC>acT	p.T623T	LOXL3_ENST00000409986.1_Silent_p.T478T|LOXL3_ENST00000393937.2_Silent_p.T478T|LOXL3_ENST00000409549.1_Silent_p.T567T|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	623	Lysyl-oxidase like.				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						TGCCATTTGGGGTGAGGATAT	0.527																																						uc002smp.1																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1867-1869)acC>acT		Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.							213.0	204.0	207.0					2																	74761513		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74761513G>A	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.1869C>T	2.37:g.74761513G>A						LOXL3_uc002smo.1_Silent_p.T262T|LOXL3_uc010ffm.1_Silent_p.T567T|LOXL3_uc002smq.1_Silent_p.T478T|LOXL3_uc010ffn.1_Silent_p.T478T	p.T623T	NM_032603	NP_115992	P58215	LOXL3_HUMAN			10	1941	-			623			Lysyl-oxidase like.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1869C>T	CCDS1953.1																																																																																				0.527	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
CTNNA2	1496	broad.mit.edu	37	2	80801323	80801323	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:80801323A>T	ENST00000402739.4	+	12	1782	c.1777A>T	c.(1777-1779)Att>Ttt	p.I593F	CTNNA2_ENST00000540488.1_Missense_Mutation_p.I593F|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I272F|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I593F|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I627F|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I593F|CTNNA2_ENST00000466387.1_Missense_Mutation_p.I593F|AC008067.2_ENST00000609950.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	593					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGAGGTTGCCATTGAAGCCCT	0.483																																						uc010ysh.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1777-1779)Att>Ttt		Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.							184.0	175.0	178.0					2																	80801323		2088	4243	6331	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80801323A>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1777A>T	2.37:g.80801323A>T	ENSP00000384638:p.Ile593Phe					CTNNA2_uc010yse.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysf.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysg.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysi.2_Missense_Mutation_p.I225F	p.I593F	NM_004389	NP_004380	P26232	CTNA2_HUMAN			11	1782	+			593					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1777A>T		.	.	.	.	.	.	.	.	.	.	A	21.4	4.138350	0.77775	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.57536	1.79	0.58432	D	0.999997	B;P;P;P	0.49447	0.284;0.924;0.907;0.907	B;P;P;P	0.57468	0.166;0.821;0.568;0.568	T	0.33033	-0.9884	9	.	.	.	.	16.2742	0.82636	1.0:0.0:0.0:0.0	.	225;593;593;593	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	F	593;593;627;593;593;593;272	ENSP00000418191:I593F;ENSP00000419295:I593F;ENSP00000355398:I627F;ENSP00000384638:I593F;ENSP00000444675:I593F;ENSP00000441705:I593F;ENSP00000341500:I272F	.	I	+	1	0	CTNNA2	80654834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.362000	0.44169	2.253000	0.74438	0.533000	0.62120	ATT		0.483	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
POTEF	728378	broad.mit.edu	37	2	130877801	130877801	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:130877801G>T	ENST00000409914.2	-	3	687	c.288C>A	c.(286-288)aaC>aaA	p.N96K	POTEF_ENST00000360967.5_Missense_Mutation_p.N96K|POTEF_ENST00000361163.4_Missense_Mutation_p.N96K|POTEF_ENST00000357462.5_Missense_Mutation_p.N96K	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	96					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.N96N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCATCTTGTTCCTGAGTG	0.612																																						uc010fmh.2																			2	Substitution - coding silent(2)	p.N96N(3)	lung(2)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(286-288)aaC>aaA		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							104.0	128.0	120.0					2																	130877801		2203	4296	6499	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877801G>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.288C>A	2.37:g.130877801G>T	ENSP00000386786:p.Asn96Lys						p.N96K	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	688	-			96					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.288C>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	5.116	0.206951	0.09704	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.76578	-1.03;-1.03;1.8;1.8	0.562	-1.12	0.09808	.	.	.	.	.	T	0.53818	0.1820	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.41378	-0.9512	8	0.72032	D	0.01	.	.	.	.	.	96	A5A3E0	POTEF_HUMAN	K	96	ENSP00000350052:N96K;ENSP00000386786:N96K;ENSP00000354232:N96K;ENSP00000355012:N96K	ENSP00000350052:N96K	N	-	3	2	POTEF	130594271	0.003000	0.15002	0.085000	0.20634	0.092000	0.18411	-0.155000	0.10115	-0.407000	0.07576	0.074000	0.15403	AAC		0.612	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
POTEE	445582	broad.mit.edu	37	2	131976263	131976263	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:131976263C>A	ENST00000356920.5	+	1	382	c.288C>A	c.(286-288)aaC>aaA	p.N96K	POTEE_ENST00000358087.5_Missense_Mutation_p.N96K|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	96					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CACTCAGGAACAAGATGGGGA	0.617																																						uc002tsn.2																			0											c.(286-288)aaC>aaA		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							52.0	47.0	49.0					2																	131976263		2187	4263	6450	SO:0001583	missense	445582						ATP binding	g.chr2:131976263C>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.288C>A	2.37:g.131976263C>A	ENSP00000439189:p.Asn96Lys					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.N96K	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			0	340	+			96					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.288C>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	5.438	0.265955	0.10294	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.76448	-1.02;1.69	0.561	-1.12	0.09808	.	.	.	.	.	T	0.53802	0.1819	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.41378	-0.9512	8	0.72032	D	0.01	.	.	.	.	.	96	Q6S8J3	POTEE_HUMAN	K	96	ENSP00000439189:N96K;ENSP00000443049:N96K	ENSP00000439189:N96K	N	+	3	2	AC131180.1	131692733	0.625000	0.27111	0.046000	0.18839	0.058000	0.15608	-0.067000	0.11579	-0.409000	0.07553	0.064000	0.15345	AAC		0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
RAB3GAP1	22930	broad.mit.edu	37	2	135893152	135893155	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:135893152_135893155delGAAA	ENST00000264158.8	+	17	1616_1619	c.1573_1576delGAAA	c.(1573-1578)gaaagafs	p.ER525fs	ZRANB3_ENST00000412849.1_5'Flank|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Frame_Shift_Del_p.ER481fs|RAB3GAP1_ENST00000442034.1_Frame_Shift_Del_p.ER525fs|SNORA40_ENST00000385573.1_RNA	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	525					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTGTTGTATTGAAAGAAAGAAGGC	0.333																																						uc010fnf.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1573-1578)gaaagafs		Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135893152_135893155delGAAA	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1573_1576delGAAA	2.37:g.135893156_135893159delGAAA	ENSP00000264158:p.Glu525fs					RAB3GAP1_uc002tuj.3_Frame_Shift_Del_p.E525fs|RAB3GAP1_uc010fng.3_Frame_Shift_Del_p.E350fs|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	p.E525fs	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	16	1616_1619	+			525					A6H8Z3|C9J837|Q659F5|Q8TBB4	Frame_Shift_Del	DEL	ENST00000264158.8	37	c.1573_1576delGAAA	CCDS33294.1																																																																																				0.333	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	
TTN	7273	broad.mit.edu	37	2	179500424	179500424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:179500424delA	ENST00000591111.1	-	177	36928	c.36704delT	c.(36703-36705)ctgfs	p.L12235fs	TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.L4936fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.L5003fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.L4811fs|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.L13876fs|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.L11308fs			Q8WZ42	TITIN_HUMAN	titin	12235	Ig-like 82.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTTTCACCAGCCAATCTCT	0.353																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(33922-33924)ctgfs		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							35.0	32.0	33.0					2																	179500424		1816	4080	5896	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500424delA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36704delT	2.37:g.179500424delA	ENSP00000465570:p.Leu12235fs					MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.L5003fs|TTN_uc021vta.1_Frame_Shift_Del_p.L4936fs|TTN_uc021vtb.1_Frame_Shift_Del_p.L4811fs	p.L11308fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		175	34148	-			12235			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.33923delT																																																																																					0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
KLF7	8609	broad.mit.edu	37	2	207988812	207988812	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:207988812G>A	ENST00000309446.6	-	2	795	c.419C>T	c.(418-420)tCg>tTg	p.S140L	KLF7_ENST00000421199.1_Missense_Mutation_p.S107L|KLF7_ENST00000423015.1_Missense_Mutation_p.S140L|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000412414.2_Missense_Mutation_p.S112L	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	140					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CTCAGGGGACGATGGGGGCGT	0.597																																						uc002vbz.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11						c.(418-420)tCg>tTg		Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA.							74.0	72.0	72.0					2																	207988812		2203	4300	6503	SO:0001583	missense	8609				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr2:207988812G>A	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.419C>T	2.37:g.207988812G>A	ENSP00000309570:p.Ser140Leu					KLF7_uc002vca.1_Missense_Mutation_p.S140L|KLF7_uc010zix.1_Missense_Mutation_p.S112L	p.S140L	NM_003709	NP_003700	O75840	KLF7_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)	1	741	-			140					B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	c.419C>T	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823158	0.71143	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000423015;ENST00000412414;ENST00000435602	T;T;T	0.07327	3.21;3.2;3.2	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.69523	2.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.949;0.995;0.926	T	0.00327	-1.1814	10	0.30854	T	0.27	.	19.7888	0.96450	0.0:0.0:1.0:0.0	.	112;140;140	B7Z4F7;Q96E51;O75840	.;.;KLF7_HUMAN	L	140;107;140;112;112	ENSP00000309570:S140L;ENSP00000387510:S107L;ENSP00000403284:S112L	ENSP00000309570:S140L	S	-	2	0	KLF7	207697057	1.000000	0.71417	0.812000	0.32479	0.989000	0.77384	9.362000	0.97126	2.697000	0.92050	0.491000	0.48974	TCG		0.597	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709	
DOCK10	55619	broad.mit.edu	37	2	225666723	225666723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:225666723G>A	ENST00000258390.7	-	40	4370	c.4303C>T	c.(4303-4305)Cag>Tag	p.Q1435*	DOCK10_ENST00000409592.3_Nonsense_Mutation_p.Q1429*	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1435					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GATCTGTGCTGCTTATGGCCT	0.378																																						uc010fwz.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4303-4305)Cag>Tag		Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.							207.0	189.0	194.0					2																	225666723		1910	4132	6042	SO:0001587	stop_gained	55619						GTP binding	g.chr2:225666723G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4303C>T	2.37:g.225666723G>A	ENSP00000258390:p.Gln1435*					DOCK10_uc002vob.2_Nonsense_Mutation_p.Q1429*|DOCK10_uc002voa.2_Nonsense_Mutation_p.Q91*|DOCK10_uc002voc.2_Nonsense_Mutation_p.Q289*	p.Q1435*	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	39	4542	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1435					B3FL70|O75178|Q9NW06|Q9NXI8	Nonsense_Mutation	SNP	ENST00000258390.7	37	c.4303C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691707	0.96793	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	.	.	.	5.87	5.87	0.94306	.	0.271253	0.41938	D	0.000790	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	20.2013	0.98260	0.0:0.0:1.0:0.0	.	.	.	.	X	1429;1435	.	ENSP00000258390:Q1435X	Q	-	1	0	DOCK10	225374967	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.583000	0.90794	2.763000	0.94921	0.655000	0.94253	CAG		0.378	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
GPR35	2859	broad.mit.edu	37	2	241556394	241556394	+	Intron	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:241556394C>T	ENST00000319838.5	+	4	490				CAPN10_ENST00000270364.7_Splice_Site_p.A133A|GPR35_ENST00000403859.1_Intron|GPR35_ENST00000438013.2_Intron	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		taccaacagccacctggggga	0.537																																						uc002vzq.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.e4-1		Homo sapiens calpain 10 (CAPN10), transcript variant 3, mRNA.							42.0	35.0	37.0					2																	241556394		2201	4299	6500	SO:0001627	intron_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241556394C>T		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.-452-113C>T	2.37:g.241556394C>T						GPR35_uc010fzi.2_Intron|GPR35_uc010fzh.2_Intron	p.A133_splice			Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	4	594	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	0			Calpain catalytic.		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Silent	SNP	ENST00000319838.5	37	c.398_splice	CCDS2541.1																																																																																				0.537	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382	
C20orf194	25943	broad.mit.edu	37	20	3274853	3274853	+	Missense_Mutation	SNP	G	G	A	rs368275201		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:3274853G>A	ENST00000252032.9	-	25	2237	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	C20orf194_ENST00000453730.2_Missense_Mutation_p.R462W|C20orf194_ENST00000498079.1_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	724										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGATGGGTCCGCATCACAGGC	0.468																																						uc002wii.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2170-2172)Cgg>Tgg		Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.		G	TRP/ARG	1,3859		0,1,1929	75.0	70.0	72.0		2170	2.3	0.8	20	dbSNP_134	72	0,8306		0,0,4153	no	missense	C20orf194	NM_001009984.1	101	0,1,6082	AA,AG,GG		0.0,0.0259,0.0082	probably-damaging	724/1178	3274853	1,12165	1930	4153	6083	SO:0001583	missense	25943							g.chr20:3274853G>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2170C>T	20.37:g.3274853G>A	ENSP00000252032:p.Arg724Trp					C20orf194_uc002wij.3_Missense_Mutation_p.R463W|C20orf194_uc002wik.2_Missense_Mutation_p.R398W	p.R724W	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			24	2221	-			724					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2170C>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798500	0.31777	2.59E-4	0.0	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.34072	2.15;1.38	5.61	2.27	0.28462	.	0.361309	0.30285	N	0.009972	T	0.50905	0.1643	L	0.51422	1.61	0.39334	D	0.96547	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.95	T	0.51164	-0.8740	10	0.72032	D	0.01	.	13.764	0.62983	0.0:0.0:0.4926:0.5074	.	463;724	Q0IIP3;Q5TEA3	.;CT194_HUMAN	W	724;462	ENSP00000252032:R724W;ENSP00000407229:R462W	ENSP00000252032:R724W	R	-	1	2	C20orf194	3222853	0.984000	0.35163	0.776000	0.31678	0.084000	0.17831	0.702000	0.25631	-0.061000	0.13110	-0.808000	0.03180	CGG		0.468	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
SEC23B	10483	broad.mit.edu	37	20	18534935	18534935	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:18534935C>A	ENST00000336714.3	+	18	2481	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	SEC23B_ENST00000262544.2_Missense_Mutation_p.F683L|SEC23B_ENST00000377465.1_Missense_Mutation_p.F683L|SEC23B_ENST00000377475.3_Missense_Mutation_p.F683L	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	683					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATGAAAACTTCAAGCACCTTC	0.493																																						uc002wra.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(2047-2049)ttC>ttA		Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.							149.0	119.0	129.0					20																	18534935		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18534935C>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.2049C>A	20.37:g.18534935C>A	ENSP00000338844:p.Phe683Leu					SEC23B_uc010zsb.2_Missense_Mutation_p.F665L|SEC23B_uc002wrb.2_Missense_Mutation_p.F683L|SEC23B_uc002wqz.2_Missense_Mutation_p.F683L|SEC23B_uc002wrc.2_Missense_Mutation_p.F683L	p.F683L	NM_032985	NP_116781	Q15437	SC23B_HUMAN			17	2510	+			683					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.2049C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302725	0.81136	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.69	4.69	0.59074	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.69248	2.105	0.80722	D	1	B;B	0.31125	0.309;0.047	B;B	0.42882	0.401;0.123	T	0.63193	-0.6692	10	0.49607	T	0.09	-20.1812	9.0193	0.36191	0.0:0.8319:0.0:0.1681	.	665;683	B4DJW8;Q15437	.;SC23B_HUMAN	L	683;683;683;683;162	ENSP00000338844:F683L;ENSP00000262544:F683L;ENSP00000366695:F683L;ENSP00000366685:F683L;ENSP00000409882:F162L	ENSP00000262544:F683L	F	+	3	2	SEC23B	18482935	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.052000	0.41316	2.588000	0.87417	0.655000	0.94253	TTC		0.493	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5		
BPI	671	broad.mit.edu	37	20	36932754	36932754	+	Splice_Site	SNP	C	C	T	rs369155604		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:36932754C>T	ENST00000262865.4	+	1	230	c.141C>T	c.(139-141)taC>taT	p.Y47Y	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	47					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCTGGACTACGGTAACTGGA	0.607																																						uc002xib.2																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.e1+1		Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	76.0	56.0	63.0		141	-6.7	0.6	20		63	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice	BPI	NM_001725.2		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		47/488	36932754	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36932754C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.142+1C>T	20.37:g.36932754C>T							p.A48_splice	NM_001725	NP_001716	P17213	BPI_HUMAN			1	204	+		Myeloproliferative disorder(115;0.00878)	48					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.142_splice	CCDS13303.1																																																																																				0.607	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	Silent
SLC9A8	23315	broad.mit.edu	37	20	48503378	48503378	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:48503378C>T	ENST00000361573.2	+	15	1623	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000541138.1_Silent_p.F227F|SLC9A8_ENST00000417961.1_Silent_p.F543F|SLC9A8_ENST00000539601.1_Silent_p.F308F			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	527					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.F527F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627																																						uc002xuv.1																			1	Substitution - coding silent(1)	p.F527F(2)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1579-1581)ttC>ttT		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.							125.0	99.0	108.0					20																	48503378		2203	4300	6503	SO:0001819	synonymous_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48503378C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1581C>T	20.37:g.48503378C>T						SLC9A8_uc010zym.1_Silent_p.F227F|SLC9A8_uc010gid.3_Silent_p.F151F	p.F527F	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		14	1791	+			527					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	c.1581C>T	CCDS13421.1																																																																																				0.627	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524	
BRWD1	54014	broad.mit.edu	37	21	40571510	40571510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr21:40571510G>T	ENST00000333229.2	-	40	5159	c.4832C>A	c.(4831-4833)tCa>tAa	p.S1611*	BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S1611*|BRWD1_ENST00000342449.3_Nonsense_Mutation_p.S1611*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1611					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGTCTCCAATGAATTGTTATC	0.378											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.2																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4831-4833)tCa>tAa		Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.							64.0	69.0	67.0					21																	40571510		2203	4299	6502	SO:0001587	stop_gained	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40571510G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4832C>A	21.37:g.40571510G>T	ENSP00000330753:p.Ser1611*		OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	894	BRWD1_uc010goc.1_Nonsense_Mutation_p.S254*|BRWD1_uc021wjf.1_Nonsense_Mutation_p.S1611*	p.S1611*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			39	5127	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1611					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	ENST00000333229.2	37	c.4832C>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	44	10.669998	0.99447	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	.	.	.	5.19	4.3	0.51218	.	0.421618	0.20169	N	0.097780	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4807	12.3004	0.54870	0.0788:0.0:0.9212:0.0	.	.	.	.	X	1611	.	ENSP00000330753:S1611X	S	-	2	0	BRWD1	39493380	1.000000	0.71417	0.662000	0.29724	0.983000	0.72400	3.482000	0.53186	1.187000	0.43000	0.563000	0.77884	TCA		0.378	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
CABIN1	23523	broad.mit.edu	37	22	24466765	24466765	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr22:24466765G>A	ENST00000398319.2	+	17	2632	c.2247G>A	c.(2245-2247)cgG>cgA	p.R749R	CABIN1_ENST00000405822.2_Silent_p.R699R|CABIN1_ENST00000263119.5_Silent_p.R749R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	749					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCTTGCTCCGGCTGAAGGACT	0.562																																						uc002zzi.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2245-2247)cgG>cgA		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.							127.0	124.0	125.0					22																	24466765		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24466765G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2247G>A	22.37:g.24466765G>A						CABIN1_uc021wnc.1_Silent_p.R699R|CABIN1_uc002zzj.1_Silent_p.R699R|CABIN1_uc002zzl.2_Silent_p.R749R	p.R749R	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			16	2374	+			749					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.2247G>A	CCDS13823.1																																																																																				0.562	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
RANGAP1	5905	broad.mit.edu	37	22	41654011	41654011	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr22:41654011G>A	ENST00000455915.2	-	6	2184	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	RANGAP1_ENST00000405486.1_Missense_Mutation_p.R239W|RANGAP1_ENST00000356244.3_Missense_Mutation_p.R239W|RANGAP1_ENST00000407260.4_Missense_Mutation_p.R184W			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	239					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATGACCCGCAGCAGGGGG	0.627																																						uc003azs.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(715-717)Cgg>Tgg		Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.							84.0	78.0	80.0					22																	41654011		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41654011G>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.715C>T	22.37:g.41654011G>A	ENSP00000401470:p.Arg239Trp					RANGAP1_uc003azt.3_Missense_Mutation_p.R239W|RANGAP1_uc003azu.3_Missense_Mutation_p.R239W|RANGAP1_uc011aoz.2_Missense_Mutation_p.R184W	p.R239W	NM_002883	NP_002874	P46060	RAGP1_HUMAN			5	2185	-			239					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.715C>T	CCDS14012.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.231295|4.231295	0.79688|0.79688	.|.	.|.	ENSG00000100401|ENSG00000100401	ENST00000446258|ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	.|T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.55	5.57|5.57	4.48|4.48	0.54585|0.54585	.|.	.|0.099468	.|0.64402	.|D	.|0.000006	T|T	0.75072|0.75072	0.3800|0.3800	M|M	0.89163|0.89163	3.01|3.01	0.53005|0.53005	D|D	0.999965|0.999965	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.79108	.|0.992;0.841	T|T	0.79843|0.79843	-0.1632|-0.1632	5|10	.|0.87932	.|D	.|0	-19.5035|-19.5035	13.1813|13.1813	0.59655|0.59655	0.0:0.0:0.7243:0.2757|0.0:0.0:0.7243:0.2757	.|.	.|184;239	.|F8W7I9;P46060	.|.;RAGP1_HUMAN	V|W	134|239;239;239;239;184	.|ENSP00000385866:R239W;ENSP00000348577:R239W;ENSP00000401470:R239W;ENSP00000385354:R184W	.|ENSP00000348577:R239W	A|R	-|-	2|1	0|2	RANGAP1|RANGAP1	39983957|39983957	0.963000|0.963000	0.33076|0.33076	1.000000|1.000000	0.80357|0.80357	0.561000|0.561000	0.35649|0.35649	2.476000|2.476000	0.45171|0.45171	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.627	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883	
IL5RA	3568	broad.mit.edu	37	3	3139898	3139898	+	Silent	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:3139898T>C	ENST00000446632.2	-	6	1018	c.444A>G	c.(442-444)tcA>tcG	p.S148S	IL5RA_ENST00000311981.8_Silent_p.S148S|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000256452.3_Silent_p.S148S|IL5RA_ENST00000383846.1_Silent_p.S148S|IL5RA_ENST00000438560.1_Silent_p.S148S|IL5RA_ENST00000430514.2_Silent_p.S148S|IL5RA_ENST00000418488.2_Silent_p.S148S|IL5RA_ENST00000456302.1_Silent_p.S148S	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	148					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AAACTTGGTATGACCTTAAAC	0.413																																					GBM(169;430 2801 24955 28528)	uc011ask.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(442-444)tcA>tcG		Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.							216.0	222.0	220.0					3																	3139898		2203	4300	6503	SO:0001819	synonymous_variant	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139898T>C	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.444A>G	3.37:g.3139898T>C						IL5RA_uc010hbq.3_Silent_p.S148S|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.S148S|IL5RA_uc011asl.2_Silent_p.S148S|IL5RA_uc011asm.1_Silent_p.S148S|IL5RA_uc010hbt.2_Silent_p.S148S|IL5RA_uc011asn.1_Silent_p.S148S|IL5RA_uc010hbu.2_Silent_p.S148S	p.S148S	NM_000564	NP_783853	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	6	1088	-			148					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Silent	SNP	ENST00000446632.2	37	c.444A>G	CCDS2559.1																																																																																				0.413	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
GADL1	339896	broad.mit.edu	37	3	30885739	30885739	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:30885739T>A	ENST00000282538.5	-	8	899	c.749A>T	c.(748-750)gAg>gTg	p.E250V	GADL1_ENST00000454381.3_Missense_Mutation_p.E250V	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	250					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						CTCCAGTTCCTCAGGTATCAT	0.438																																						uc003cep.2																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(748-750)gAg>gTg		Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	Pyridoxal Phosphate(DB00114)						176.0	155.0	162.0					3																	30885739		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30885739T>A	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.749A>T	3.37:g.30885739T>A	ENSP00000282538:p.Glu250Val					GADL1_uc003ceq.1_Missense_Mutation_p.E250V	p.E250V	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			7	796	-			250						Missense_Mutation	SNP	ENST00000282538.5	37	c.749A>T	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	T	12.89	2.072508	0.36566	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.45276	0.9;0.9	5.96	2.18	0.27775	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.339732	0.31531	N	0.007491	T	0.37705	0.1013	L	0.56124	1.755	0.41397	D	0.987653	B	0.06786	0.001	B	0.14578	0.011	T	0.17077	-1.0381	10	0.31617	T	0.26	-4.8429	13.7436	0.62862	0.0:0.0:0.3944:0.6056	.	250	Q6ZQY3	GADL1_HUMAN	V	250	ENSP00000282538:E250V;ENSP00000427059:E250V	ENSP00000282538:E250V	E	-	2	0	GADL1	30860743	0.980000	0.34600	0.971000	0.41717	0.990000	0.78478	1.634000	0.37123	0.127000	0.18452	0.533000	0.62120	GAG		0.438	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359	
PLXNB1	5364	broad.mit.edu	37	3	48462792	48462792	+	Splice_Site	SNP	A	A	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:48462792A>C	ENST00000358536.4	-	8	1924	c.1655T>G	c.(1654-1656)gTt>gGt	p.V552G	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Splice_Site_p.V552G|PLXNB1_ENST00000296440.6_Splice_Site_p.V552G|PLXNB1_ENST00000456774.1_Splice_Site_p.V552G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	552					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGATAGGAAAACCTGCCAAGA	0.577																																						uc003csw.2																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.e8-1		Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.							43.0	45.0	44.0					3																	48462792		2203	4300	6503	SO:0001630	splice_region_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48462792A>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1654-1T>G	3.37:g.48462792A>C						PLXNB1_uc003csu.2_Splice_Site_p.V552_splice|PLXNB1_uc003csx.2_Splice_Site_p.V552_splice|PLXNB1_uc010hjx.1_Splice_Site	p.V552_splice	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	8	1924	-			552					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.1654_splice	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425082	0.62733	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.04317	3.65;3.68;3.65;3.68	5.02	5.02	0.67125	.	0.291197	0.32204	N	0.006439	T	0.20047	0.0482	M	0.75085	2.285	0.80722	D	1	P;D	0.62365	0.771;0.991	B;D	0.70716	0.38;0.97	T	0.00317	-1.1822	10	0.87932	D	0	.	13.5736	0.61862	1.0:0.0:0.0:0.0	.	552;552	O43157;O43157-2	PLXB1_HUMAN;.	G	552	ENSP00000296440:V552G;ENSP00000351242:V552G;ENSP00000351338:V552G;ENSP00000414199:V552G	ENSP00000296440:V552G	V	-	2	0	PLXNB1	48437796	1.000000	0.71417	0.998000	0.56505	0.461000	0.32589	8.167000	0.89668	1.904000	0.55121	0.459000	0.35465	GTT		0.577	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673	Missense_Mutation
FLNB	2317	broad.mit.edu	37	3	58135696	58135696	+	Missense_Mutation	SNP	G	G	A	rs201831615		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:58135696G>A	ENST00000295956.4	+	37	6376	c.6211G>A	c.(6211-6213)Gtc>Atc	p.V2071I	FLNB_ENST00000429972.2_Missense_Mutation_p.V2060I|FLNB_ENST00000419752.2_Missense_Mutation_p.V1891I|FLNB_ENST00000490882.1_Missense_Mutation_p.V2102I|FLNB_ENST00000357272.4_Missense_Mutation_p.V2071I|FLNB_ENST00000493452.1_Missense_Mutation_p.V1878I|FLNB_ENST00000358537.3_Missense_Mutation_p.V2047I|FLNB_ENST00000348383.5_Missense_Mutation_p.V2071I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2071	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTTTATATCGTCTCCACCAA	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20496	0.0		0.0	False		,,,				2504	0.0					uc003djj.2																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(6211-6213)Gtc>Atc		Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	238.0	209.0	219.0		6304,6178,6139,6211	6.2	1.0	3		219	0,8600		0,0,4300	no	missense,missense,missense,missense	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	2102/2634,2060/2592,2047/2579,2071/2603	58135696	1,13005	2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58135696G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6211G>A	3.37:g.58135696G>A	ENSP00000295956:p.Val2071Ile					FLNB_uc010hne.2_Missense_Mutation_p.V2102I|FLNB_uc003djk.2_Missense_Mutation_p.V2060I|FLNB_uc010hnf.2_Missense_Mutation_p.V2047I|FLNB_uc003djl.2_Missense_Mutation_p.V1891I|FLNB_uc003djm.2_Missense_Mutation_p.V1878I|FLNB_uc010hng.1_Non-coding_Transcript	p.V2071I	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	36	6376	+			2071			Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.6211G>A	CCDS2885.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	11.86|11.86	1.763686|1.763686	0.31228|0.31228	2.27E-4|2.27E-4	0.0|0.0	ENSG00000136068|ENSG00000136068	ENST00000466455|ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.|D;D;D;D;D;D;D;D	.|0.92048	.|-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89986|0.89986	0.6874|0.6874	N|N	0.04203|0.04203	-0.255|-0.255	0.80722|0.80722	D|D	1|1	.|D;B;D;B;D;D	.|0.89917	.|0.961;0.041;1.0;0.051;1.0;1.0	.|P;B;D;B;D;D	.|0.85130	.|0.66;0.071;0.997;0.022;0.997;0.997	D|D	0.83766|0.83766	0.0217|0.0217	5|10	.|0.02654	.|T	.|1	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2047;2102;1878;1891;2060;2071	.|O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.|.;.;.;.;.;FLNB_HUMAN	H|I	35|2071;2102;2047;2060;2071;2071;1878;1891	.|ENSP00000295956:V2071I;ENSP00000420213:V2102I;ENSP00000351339:V2047I;ENSP00000415599:V2060I;ENSP00000232447:V2071I;ENSP00000349819:V2071I;ENSP00000418510:V1878I;ENSP00000414532:V1891I	.|ENSP00000295956:V2071I	R|V	+|+	2|1	0|0	FLNB|FLNB	58110736|58110736	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.733000|0.733000	0.41908|0.41908	4.390000|4.390000	0.59646|0.59646	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.562	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
PHLDB2	90102	broad.mit.edu	37	3	111632476	111632476	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:111632476G>A	ENST00000431670.2	+	3	2057	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	PHLDB2_ENST00000495180.1_Missense_Mutation_p.R135Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R576Q|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R549Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R549Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	549						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACCTCACCCGGACTCCTCCA	0.522																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1645-1647)cGg>cAg		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							158.0	169.0	165.0					3																	111632476		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632476G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1646G>A	3.37:g.111632476G>A	ENSP00000405405:p.Arg549Gln					PHLDB2_uc003dyc.3_Missense_Mutation_p.R576Q|PHLDB2_uc003dyd.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyg.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyh.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyi.3_Missense_Mutation_p.R135Q|PHLDB2_uc003dyf.4_Missense_Mutation_p.R549Q	p.R549Q	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN			2	2057	+			549					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1646G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586834	0.28268	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.29655	1.57;1.57;1.57;1.57;1.57;1.57;1.56	5.48	3.43	0.39272	.	0.414332	0.28104	N	0.016594	T	0.11836	0.0288	N	0.22421	0.69	0.24431	N	0.994571	B;B;P;B;B	0.42871	0.005;0.217;0.792;0.104;0.335	B;B;B;B;B	0.28709	0.001;0.011;0.093;0.024;0.024	T	0.15378	-1.0439	10	0.13108	T	0.6	.	4.4282	0.11515	0.205:0.2129:0.582:0.0	.	135;549;549;549;576	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	Q	576;576;549;549;549;549;549;549;135	ENSP00000377500:R576Q;ENSP00000405405:R549Q;ENSP00000405292:R549Q;ENSP00000418296:R549Q;ENSP00000377502:R549Q;ENSP00000418319:R549Q;ENSP00000420303:R135Q	ENSP00000352764:R576Q	R	+	2	0	PHLDB2	113115166	0.951000	0.32395	0.989000	0.46669	0.152000	0.21847	1.950000	0.40323	0.641000	0.30601	0.555000	0.69702	CGG		0.522	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	
PCCB	5096	broad.mit.edu	37	3	135980854	135980854	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:135980854G>A	ENST00000251654.4	+	5	560	c.490G>A	c.(490-492)Gca>Aca	p.A164T	PCCB_ENST00000468777.1_Missense_Mutation_p.A195T|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000478469.1_Missense_Mutation_p.A164T|PCCB_ENST00000482086.1_Missense_Mutation_p.A48T|PCCB_ENST00000466072.1_Missense_Mutation_p.A164T|PCCB_ENST00000471595.1_Missense_Mutation_p.A164T|PCCB_ENST00000490504.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.A184T|PCCB_ENST00000462637.1_Missense_Mutation_p.A141T|PCCB_ENST00000483687.1_Missense_Mutation_p.A145T	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	164	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CTCTGGGGGAGCACGGATCCA	0.458																																						uc011bmc.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25						c.(550-552)Gca>Aca		Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	Biotin(DB00121)|L-Valine(DB00161)						42.0	42.0	42.0					3																	135980854		2198	4290	6488	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:135980854G>A		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.490G>A	3.37:g.135980854G>A	ENSP00000251654:p.Ala164Thr					PCCB_uc003eqz.1_Missense_Mutation_p.A164T|PCCB_uc003eqy.2_Missense_Mutation_p.A164T|PCCB_uc011bmd.1_Missense_Mutation_p.A81T	p.A184T	NM_001178014	NP_001171485	P05166	PCCB_HUMAN			5	601	+			164			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.550G>A	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	G	36	5.800916	0.96960	.	.	ENSG00000114054	ENST00000251654;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217;ENST00000478469;ENST00000494742;ENST00000459873	D;D;D;D;D;D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-4.67;-5.23;-5.23;-5.23;-5.23;-5.23;-4.67;-4.67	5.91	5.91	0.95273	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99609	0.9858	H	0.99507	4.6	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.74348	0.978;0.979;0.983;0.976	D	0.97599	1.0122	10	0.87932	D	0	.	19.07	0.93130	0.0:0.0:1.0:0.0	.	81;184;164;164	B7Z7U9;B7Z2Z4;E9PDR0;P05166	.;.;.;PCCB_HUMAN	T	164;145;195;141;164;48;164;184;164;81;81	ENSP00000251654:A164T;ENSP00000420639:A145T;ENSP00000419129:A195T;ENSP00000420391:A141T;ENSP00000420158:A164T;ENSP00000417253:A48T;ENSP00000417549:A164T;ENSP00000419027:A184T;ENSP00000420759:A164T;ENSP00000418020:A81T;ENSP00000419293:A81T	ENSP00000251654:A164T	A	+	1	0	PCCB	137463544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.839000	0.92120	2.793000	0.96121	0.655000	0.94253	GCA		0.458	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1		
MECOM	2122	broad.mit.edu	37	3	168845829	168845829	+	Silent	SNP	G	G	A	rs188482846	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:168845829G>A	ENST00000464456.1	-	4	1269	c.69C>T	c.(67-69)tgC>tgT	p.C23C	MECOM_ENST00000433243.2_Silent_p.C23C|MECOM_ENST00000468789.1_Silent_p.C23C|MECOM_ENST00000264674.3_Silent_p.C87C|MECOM_ENST00000460814.1_Silent_p.C23C|MECOM_ENST00000392736.3_Silent_p.C23C|MECOM_ENST00000472280.1_Silent_p.C23C|MECOM_ENST00000494292.1_Silent_p.C211C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C23*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACAGTCTTCGCAGCGATATT	0.433													A|||	2	0.000399361	0.0	0.0	5008	,	,		19636	0.002		0.0	False		,,,				2504	0.0					uc011bpj.1																			1	Substitution - Nonsense(1)	p.C23*(1)	urinary_tract(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(631-633)tgC>tgT		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							118.0	114.0	115.0					3																	168845829		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168845829G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.69C>T	3.37:g.168845829G>A						MECOM_uc010hwk.1_Silent_p.C46C|MECOM_uc003ffj.3_Silent_p.C87C|MECOM_uc003ffi.3_Silent_p.C23C|MECOM_uc011bpi.1_Silent_p.C23C|MECOM_uc003ffn.3_Silent_p.C23C|MECOM_uc003ffk.2_Silent_p.C23C|MECOM_uc003ffl.2_Silent_p.C183C|MECOM_uc011bpk.1_Silent_p.C23C|MECOM_uc010hwn.2_Silent_p.C211C|MECOM_uc003ffm.1_Silent_p.C87C	p.C211C	NM_004991	NP_004982	Q13465	MDS1_HUMAN			4	1036	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.633C>T	CCDS54669.1																																																																																				0.433	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
MUC4	4585	broad.mit.edu	37	3	195498599	195498599	+	Missense_Mutation	SNP	C	C	T	rs145772547		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:195498599C>T	ENST00000346145.4	-	4	497	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	MUC4_ENST00000463781.3_Missense_Mutation_p.R4389Q|MUC4_ENST00000475231.1_Missense_Mutation_p.R4389Q|MUC4_ENST00000349607.4_Missense_Mutation_p.R102Q	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1146					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACAGGGTCCCGGCCTGTGAA	0.562																																						uc021xjp.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(13165-13167)cGg>cAg		Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.							97.0	95.0	96.0					3																	195498599		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195498599C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.458G>A	3.37:g.195498599C>T	ENSP00000304207:p.Arg153Gln					MUC4_uc003fuz.3_Missense_Mutation_p.G69R|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.R130Q|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.R130Q|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.R153Q|MUC4_uc003fvp.3_Missense_Mutation_p.R102Q	p.R4389Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	4	13322	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1146					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.13166G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	12.08	1.829568	0.32329	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38077	1.16;1.52;1.48;1.45	5.5	-0.173	0.13322	.	2.293390	0.01446	N	0.015300	T	0.16385	0.0394	N	0.08118	0	0.09310	N	1	B;B;B;B	0.27765	0.147;0.188;0.038;0.038	B;B;B;B	0.15870	0.014;0.006;0.007;0.007	T	0.13495	-1.0507	10	0.07813	T	0.8	2.74	5.9478	0.19229	0.1295:0.495:0.0:0.3755	.	4261;1146;102;153	E7ESK3;Q99102;Q99102-12;Q99102-13	.;MUC4_HUMAN;.;.	Q	102;153;4389;4389;1115	ENSP00000338109:R102Q;ENSP00000304207:R153Q;ENSP00000417498:R4389Q;ENSP00000420243:R4389Q	ENSP00000304207:R153Q	R	-	2	0	MUC4	196984233	0.000000	0.05858	0.053000	0.19242	0.099000	0.18886	-1.634000	0.02020	0.036000	0.15547	-0.257000	0.10917	CGG		0.562	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	
SLC10A4	201780	broad.mit.edu	37	4	48486116	48486116	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:48486116G>A	ENST00000273861.4	+	1	757	c.538G>A	c.(538-540)Ggc>Agc	p.G180S		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTGTCCCGGCGGCAATCTCTC	0.632																																						uc003gyc.2																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(538-540)Ggc>Agc		Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.							36.0	33.0	34.0					4																	48486116		2203	4300	6503	SO:0001583	missense	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48486116G>A	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.538G>A	4.37:g.48486116G>A	ENSP00000273861:p.Gly180Ser						p.G180S	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN			0	757	+			180					Q8WUZ2	Missense_Mutation	SNP	ENST00000273861.4	37	c.538G>A	CCDS3482.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039305	0.97226	.	.	ENSG00000145248	ENST00000273861	T	0.13196	2.61	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60905	-0.7170	10	0.87932	D	0	-23.7368	20.1133	0.97917	0.0:0.0:1.0:0.0	.	180	Q96EP9	NTCP4_HUMAN	S	180	ENSP00000273861:G180S	ENSP00000273861:G180S	G	+	1	0	SLC10A4	48180873	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	9.470000	0.97683	2.766000	0.95052	0.491000	0.48974	GGC		0.632	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679	
YTHDC1	91746	broad.mit.edu	37	4	69184554	69184554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:69184554C>A	ENST00000344157.4	-	13	2046	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.E553*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.E571*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	571	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTGTCCACTTCCTGGTATCGT	0.318																																						uc003hdx.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1711-1713)Gaa>Taa		Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.							76.0	79.0	78.0					4																	69184554		2203	4300	6503	SO:0001587	stop_gained	91746							g.chr4:69184554C>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1711G>T	4.37:g.69184554C>A	ENSP00000339245:p.Glu571*					YTHDC1_uc003hdy.3_Nonsense_Mutation_p.E553*	p.E571*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			12	2064	-			571			Arg-rich.		Q4W5Q3|Q7Z622|Q8TF35	Nonsense_Mutation	SNP	ENST00000344157.4	37	c.1711G>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	42	9.275125	0.99122	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	5.64	5.64	0.86602	.	0.206727	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	19.7175	0.96129	0.0:1.0:0.0:0.0	.	.	.	.	X	571;553	.	ENSP00000339245:E571X	E	-	1	0	YTHDC1	68867149	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.394000	0.59671	2.662000	0.90505	0.655000	0.94253	GAA		0.318	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	
SGMS2	166929	broad.mit.edu	37	4	108831540	108831540	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:108831540C>T	ENST00000394684.4	+	7	1486	c.929C>T	c.(928-930)tCt>tTt	p.S310F	RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.S310F|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.S310F	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	310					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		AATTTCTTATCTCGAGCATGG	0.388																																						uc003hyo.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20						c.(928-930)tCt>tTt		Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	Choline(DB00122)						83.0	88.0	87.0					4																	108831540		2203	4300	6503	SO:0001583	missense	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108831540C>T	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.929C>T	4.37:g.108831540C>T	ENSP00000378176:p.Ser310Phe					SGMS2_uc003hyl.4_Missense_Mutation_p.S310F|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Missense_Mutation_p.S310F	p.S310F	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	5	1568	+			310					A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	c.929C>T	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979517	0.92982	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000394686	T;T;T	0.47869	0.83;0.83;0.83	6.07	6.07	0.98685	.	0.100570	0.64402	D	0.000003	T	0.32436	0.0829	N	0.19112	0.55	0.58432	D	0.999999	P	0.40476	0.718	B	0.33690	0.168	T	0.11941	-1.0567	10	0.10636	T	0.68	-10.4746	20.6593	0.99626	0.0:1.0:0.0:0.0	.	310	Q8NHU3	SMS2_HUMAN	F	310	ENSP00000378176:S310F;ENSP00000351981:S310F;ENSP00000378178:S310F	ENSP00000351981:S310F	S	+	2	0	SGMS2	109050989	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.463000	0.80869	2.885000	0.99019	0.655000	0.94253	TCT		0.388	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621	
MAML3	55534	broad.mit.edu	37	4	140810713	140810713	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:140810713T>G	ENST00000509479.2	-	2	2733	c.1877A>C	c.(1876-1878)aAc>aCc	p.N626T	MAML3_ENST00000327122.5_Missense_Mutation_p.N470T|MAML3_ENST00000398940.1_Missense_Mutation_p.N154T	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)									p.N626T(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CATCAAGGGGTTTTTGTTGGG	0.562																																						uc021xsg.1																			2	Substitution - Missense(2)	p.N626T(3)	urinary_tract(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1876-1878)aAc>aCc		Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.							141.0	148.0	146.0					4																	140810713		2202	4298	6500	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810713T>G	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1877A>C	4.37:g.140810713T>G	ENSP00000421180:p.Asn626Thr					MAML3_uc011chd.1_Intron	p.N626T	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			1	2629	-	all_hematologic(180;0.162)		622			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.1877A>C	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	T	0.361	-0.939390	0.02322	.	.	ENSG00000196782	ENST00000509479;ENST00000327122;ENST00000398940	T	0.39592	1.07	5.95	-1.43	0.08884	.	0.207940	0.47852	N	0.000202	T	0.21718	0.0523	N	0.25890	0.77	0.36711	D	0.880657	B	0.06786	0.001	B	0.06405	0.002	T	0.42766	-0.9432	10	0.02654	T	1	.	11.1195	0.48281	0.0:0.0597:0.491:0.4493	.	622	Q96JK9	MAML3_HUMAN	T	626;470;154	ENSP00000421180:N626T	ENSP00000313316:N470T	N	-	2	0	MAML3	141030163	1.000000	0.71417	0.989000	0.46669	0.878000	0.50629	0.641000	0.24720	-0.444000	0.07170	-0.316000	0.08728	AAC		0.562	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2		
TBC1D9	23158	broad.mit.edu	37	4	141545490	141545490	+	Silent	SNP	C	C	T	rs190153862	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:141545490C>T	ENST00000442267.2	-	19	3026	c.2952G>A	c.(2950-2952)acG>acA	p.T984T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	984							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTAGGCTCACCGTAACAAAGC	0.373													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17919	0.0		0.001	False		,,,				2504	0.0					uc010ioj.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(2950-2952)acG>acA		Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.							97.0	91.0	93.0					4																	141545490		1901	4117	6018	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141545490C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2952G>A	4.37:g.141545490C>T							p.T984T	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			18	3224	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	984					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.2952G>A	CCDS47136.1																																																																																				0.373	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
SLC6A18	348932	broad.mit.edu	37	5	1225635	1225635	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:1225635G>A	ENST00000324642.3	+	1	166	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G15R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	15					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCGACCTCGGGGATGAGAG	0.642																																						uc003jby.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(43-45)Ggg>Agg		Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.							75.0	66.0	69.0					5																	1225635		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1225635G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.43G>A	5.37:g.1225635G>A	ENSP00000323549:p.Gly15Arg						p.G15R	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		0	166	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		15						Missense_Mutation	SNP	ENST00000324642.3	37	c.43G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569555	0.28003	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.74315	-0.83;-0.68	3.5	2.62	0.31277	.	0.941875	0.08812	N	0.890179	T	0.60625	0.2283	L	0.43152	1.355	0.09310	N	1	P	0.45348	0.856	B	0.36534	0.227	T	0.44436	-0.9328	10	0.16420	T	0.52	.	7.2482	0.26133	0.2371:0.0:0.7629:0.0	.	15	Q96N87	S6A18_HUMAN	R	15	ENSP00000323549:G15R;ENSP00000296821:G15R	ENSP00000296821:G15R	G	+	1	0	SLC6A18	1278635	0.942000	0.31987	0.004000	0.12327	0.059000	0.15707	2.463000	0.45058	0.797000	0.33971	0.313000	0.20887	GGG		0.642	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	
LHFPL2	10184	broad.mit.edu	37	5	77784877	77784877	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:77784877C>T	ENST00000515007.2	-	3	840	c.530G>A	c.(529-531)gGa>gAa	p.G177E	LHFPL2_ENST00000380345.2_Missense_Mutation_p.G177E			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	177						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGCAGTCTCCAGGTTTGTA	0.512																																						uc003kfo.3																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(529-531)gGa>gAa		Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.							103.0	103.0	103.0					5																	77784877		2203	4300	6503	SO:0001583	missense	10184					integral to membrane		g.chr5:77784877C>T	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.530G>A	5.37:g.77784877C>T	ENSP00000425906:p.Gly177Glu						p.G177E	NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	1206	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	177					B2RMQ6|Q7Z5P0|Q92605	Missense_Mutation	SNP	ENST00000515007.2	37	c.530G>A	CCDS4042.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426157	0.83667	.	.	ENSG00000145685	ENST00000380345;ENST00000515007	T;T	0.79141	-1.24;-1.24	5.94	5.94	0.96194	.	0.097705	0.64402	D	0.000001	D	0.88123	0.6352	M	0.85197	2.74	0.80722	D	1	D	0.58268	0.982	P	0.57620	0.824	D	0.89189	0.3549	10	0.87932	D	0	-10.8097	19.3618	0.94442	0.0:1.0:0.0:0.0	.	177	Q6ZUX7	LHPL2_HUMAN	E	177	ENSP00000369702:G177E;ENSP00000425906:G177E	ENSP00000369702:G177E	G	-	2	0	LHFPL2	77820633	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.406000	0.44557	2.820000	0.97059	0.650000	0.86243	GGA		0.512	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779	
ARSK	153642	broad.mit.edu	37	5	94918696	94918696	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:94918696C>T	ENST00000380009.4	+	4	698	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	165					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TAATCTTATCCGTAACAGGAC	0.418																																						uc003kld.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(493-495)Cgt>Tgt		Homo sapiens arylsulfatase family, member K (ARSK), mRNA.							143.0	139.0	140.0					5																	94918696		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94918696C>T		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.493C>T	5.37:g.94918696C>T	ENSP00000369346:p.Arg165Cys					ARSK_uc010jbg.3_Missense_Mutation_p.R6C|ARSK_uc011cum.2_Non-coding_Transcript	p.R165C	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	3	651	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	165					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.493C>T	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882937	0.51908	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.98567	-5.0	6.02	5.13	0.70059	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.322034	0.35013	N	0.003518	D	0.95601	0.8570	N	0.19112	0.55	0.44523	D	0.997478	D	0.57571	0.98	P	0.48030	0.564	D	0.94546	0.7749	10	0.37606	T	0.19	-7.5499	11.2616	0.49087	0.1208:0.5118:0.3674:0.0	.	165	Q6UWY0	ARSK_HUMAN	C	165	ENSP00000369346:R165C	ENSP00000369346:R165C	R	+	1	0	ARSK	94944452	0.980000	0.34600	0.067000	0.19924	0.602000	0.36980	2.780000	0.47742	1.513000	0.48852	0.650000	0.86243	CGT		0.418	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150	
JADE2	23338	broad.mit.edu	37	5	133902013	133902013	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:133902013C>T	ENST00000402835.1	+	9	1432	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	PHF15_ENST00000395003.1_Missense_Mutation_p.R393C|PHF15_ENST00000361895.2_Missense_Mutation_p.R393C|PHF15_ENST00000282605.4_Missense_Mutation_p.R393C																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGACCCTGCGCAAGCAGCG	0.642																																						uc003kzk.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1225-1227)Cgc>Tgc		Homo sapiens PHD finger protein 15 (PHF15), mRNA.							52.0	54.0	53.0					5																	133902013		2203	4300	6503	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133902013C>T																												ENST00000402835.1:c.1177C>T	5.37:g.133902013C>T	ENSP00000384671:p.Arg393Cys					PHF15_uc011cxt.1_Missense_Mutation_p.R393C|PHF15_uc003kzl.2_Missense_Mutation_p.R393C|PHF15_uc003kzm.2_Missense_Mutation_p.R393C|PHF15_uc003kzn.2_Missense_Mutation_p.R393C|PHF15_uc003kzo.1_Missense_Mutation_p.R393C|PHF15_uc003kzp.3_Missense_Mutation_p.R101C	p.R409C	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1263	+			393						Missense_Mutation	SNP	ENST00000402835.1	37	c.1225C>T		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816916	0.70912	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003	T;T;T;T	0.53423	0.62;0.69;0.73;0.71	5.63	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.994;0.993;0.994;0.99;0.99	T	0.74503	-0.3644	10	0.87932	D	0	.	15.5504	0.76148	0.2224:0.7776:0.0:0.0	.	393;393;393;393;393;409	B4DFY8;Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	.;JADE2_HUMAN;.;.;.;.	C	393;409;393;393;393;393;393	ENSP00000282605:R393C;ENSP00000354425:R393C;ENSP00000384671:R393C;ENSP00000378451:R393C	ENSP00000282605:R393C	R	+	1	0	PHF15	133929912	0.792000	0.28813	0.980000	0.43619	0.960000	0.62799	0.549000	0.23329	2.657000	0.90304	0.591000	0.81541	CGC		0.642	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1		
EBF1	1879	broad.mit.edu	37	5	158523369	158523369	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:158523369G>T	ENST00000313708.6	-	3	619	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	EBF1_ENST00000380654.4_Missense_Mutation_p.Q113K|EBF1_ENST00000517373.1_Missense_Mutation_p.Q113K|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	113					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGAGAAGCTGAAGCCGGTAG	0.592			T	HMGA2	lipoma																																	uc010jip.3				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(337-339)Cag>Aag		Homo sapiens early B-cell factor 1 (EBF1), mRNA.							111.0	100.0	104.0					5																	158523369		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158523369G>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.337C>A	5.37:g.158523369G>T	ENSP00000322898:p.Gln113Lys					EBF1_uc011ddw.2_5'UTR|EBF1_uc011ddx.2_Missense_Mutation_p.Q113K|EBF1_uc003lxl.4_Missense_Mutation_p.Q113K	p.Q113K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	639	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	113					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.337C>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976478	0.92982	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.48201	0.82;0.84;0.85	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	M	0.80422	2.495	0.58432	D	0.999999	D;P;P	0.57899	0.981;0.797;0.553	P;B;B	0.54140	0.743;0.314;0.281	T	0.70513	-0.4851	10	0.62326	D	0.03	-4.3948	19.0692	0.93125	0.0:0.0:1.0:0.0	.	113;113;113	A8K0Z7;Q9UH73;Q9UH73-2	.;COE1_HUMAN;.	K	113	ENSP00000322898:Q113K;ENSP00000370029:Q113K;ENSP00000428020:Q113K	ENSP00000322898:Q113K	Q	-	1	0	EBF1	158455947	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.709000	0.98729	2.595000	0.87683	0.655000	0.94253	CAG		0.592	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
WWC1	23286	broad.mit.edu	37	5	167841446	167841446	+	Silent	SNP	C	C	T	rs61730020	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:167841446C>T	ENST00000265293.4	+	9	1537	c.1035C>T	c.(1033-1035)aaC>aaT	p.N345N	WWC1_ENST00000521089.1_Silent_p.N345N	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	345					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCCTTATCAACGAGAAGGAGG	0.627													C|||	27	0.00539137	0.0174	0.0014	5008	,	,		18680	0.0		0.003	False		,,,				2504	0.0					uc003lzu.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(1033-1035)aaC>aaT		Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.		C	,,	52,4352		0,52,2150	25.0	20.0	22.0		1035,1035,1035	-5.0	0.7	5	dbSNP_129	22	25,8567		0,25,4271	no	coding-synonymous,coding-synonymous,coding-synonymous	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	,,	0,77,6421	TT,TC,CC		0.291,1.1807,0.5925	,,	345/1120,345/1119,345/1114	167841446	77,12919	2202	4296	6498	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167841446C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1035C>T	5.37:g.167841446C>T						WWC1_uc003lzv.3_Silent_p.N345N|WWC1_uc011den.2_Silent_p.N345N|WWC1_uc003lzw.3_Silent_p.N144N	p.N345N	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	8	1128	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	345					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.1035C>T	CCDS4366.1	9	0.004120879120879121	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	9.335	1.061569	0.19987	0.011807	0.00291	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.68	-4.99	0.03010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2873	0.87146	0.0:0.201:0.0:0.799	rs61730020	.	.	.	X	307;122	.	.	R	+	1	2	WWC1	167774024	0.016000	0.18221	0.745000	0.31077	0.987000	0.75469	-0.884000	0.04166	-1.083000	0.03097	-0.136000	0.14681	CGA		0.627	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
TDP2	51567	broad.mit.edu	37	6	24666809	24666809	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:24666809C>T	ENST00000378198.4	-	2	366	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000545995.1_Missense_Mutation_p.V96M|ACOT13_ENST00000537591.1_5'Flank|TDP2_ENST00000341060.3_De_novo_Start_OutOfFrame			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	66					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						CTCTCCTCCACCGGAGGCTCG	0.582								Direct reversal of damage																														uc003nej.3																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(196-198)Gtg>Atg	Direct reversal of damage	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.							141.0	147.0	145.0					6																	24666809		2203	4300	6503	SO:0001583	missense	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24666809C>T	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.196G>A	6.37:g.24666809C>T	ENSP00000367440:p.Val66Met					TDP2_uc010jpu.1_Missense_Mutation_p.V66M|ACOT13_uc010jpv.3_5'Flank|ACOT13_uc003nek.3_5'Flank	p.V66M	NM_016614	NP_057698	O95551	TYDP2_HUMAN			1	221	-			66					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	c.196G>A	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786819	0.70337	.	.	ENSG00000111802	ENST00000378198;ENST00000545995	T;T	0.23348	1.95;1.91	4.84	4.84	0.62591	UBA-like (1);	0.371121	0.31797	N	0.007060	T	0.12263	0.0298	L	0.46157	1.445	0.27170	N	0.960945	B;B	0.19583	0.037;0.012	B;B	0.17098	0.017;0.005	T	0.03945	-1.0990	10	0.35671	T	0.21	-12.4624	15.4938	0.75632	0.0:1.0:0.0:0.0	.	96;66	O95551-2;O95551	.;TYDP2_HUMAN	M	66;96	ENSP00000367440:V66M;ENSP00000437637:V96M	ENSP00000367440:V66M	V	-	1	0	TDP2	24774788	0.001000	0.12720	0.294000	0.24946	0.792000	0.44763	0.898000	0.28404	2.493000	0.84123	0.655000	0.94253	GTG		0.582	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1		
UHRF1BP1	54887	broad.mit.edu	37	6	34839664	34839664	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:34839664G>A	ENST00000192788.5	+	20	4330	c.4159G>A	c.(4159-4161)Gtg>Atg	p.V1387M	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.V1387M	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1387							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAAAGAACAGGTGTTTTTGGT	0.468																																						uc003oju.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(4159-4161)Gtg>Atg		Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.							44.0	44.0	44.0					6																	34839664		1859	4092	5951	SO:0001583	missense	54887							g.chr6:34839664G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.4159G>A	6.37:g.34839664G>A	ENSP00000192788:p.Val1387Met					UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	p.V1387M	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			19	4393	+			1387					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.4159G>A	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	3.482	-0.105634	0.06924	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.11063	2.97;2.81	5.96	-0.164	0.13359	.	0.799677	0.11932	N	0.515624	T	0.02230	0.0069	L	0.44542	1.39	0.09310	N	0.99999	B	0.10296	0.003	B	0.10450	0.005	T	0.45483	-0.9258	10	0.33940	T	0.23	-3.3575	1.6246	0.02720	0.2988:0.1296:0.438:0.1337	.	1387	Q6BDS2	URFB1_HUMAN	M	1387	ENSP00000192788:V1387M;ENSP00000400628:V1387M	ENSP00000192788:V1387M	V	+	1	0	UHRF1BP1	34947642	0.579000	0.26725	0.323000	0.25347	0.009000	0.06853	0.239000	0.18023	-0.105000	0.12132	-0.897000	0.02905	GTG		0.468	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
TREML4	285852	broad.mit.edu	37	6	41196175	41196175	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:41196175G>A	ENST00000341495.2	+	1	114	c.10G>A	c.(10-12)Ggt>Agt	p.G4S	TREML4_ENST00000448827.2_Missense_Mutation_p.G4S	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	4						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AATGGCCTGGGGTGGGGTCCA	0.597																																						uc003oqc.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(10-12)Ggt>Agt		Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.							39.0	39.0	39.0					6																	41196175		2203	4300	6503	SO:0001583	missense	285852					extracellular region		g.chr6:41196175G>A	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"""Immunoglobulin superfamily / V-set domain containing"""	30807	protein-coding gene	gene with protein product	"""TREM like transcript 4"""	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.10G>A	6.37:g.41196175G>A	ENSP00000342570:p.Gly4Ser					TREML4_uc003oqd.3_5'Flank	p.G4S	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN			0	114	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		4					B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	37	c.10G>A	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	10.90	1.481014	0.26598	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.06528	3.29;3.29	3.94	1.12	0.20585	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.47799	-0.9089	9	0.62326	D	0.03	-1.505	5.6762	0.17749	0.3575:0.0:0.6425:0.0	.	4	Q6UXN2	TRML4_HUMAN	S	4	ENSP00000342570:G4S;ENSP00000418078:G4S	ENSP00000342570:G4S	G	+	1	0	TREML4	41304153	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.020000	0.13466	0.101000	0.17610	0.591000	0.81541	GGT		0.597	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2		
FAM83B	222584	broad.mit.edu	37	6	54804576	54804576	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:54804576T>G	ENST00000306858.7	+	5	923	c.807T>G	c.(805-807)ttT>ttG	p.F269L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	269										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGAGTCCTTTGATGAAGAAT	0.398																																						uc003pck.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(805-807)ttT>ttG		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.							97.0	97.0	97.0					6																	54804576		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54804576T>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.807T>G	6.37:g.54804576T>G	ENSP00000304078:p.Phe269Leu						p.F269L	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			4	923	+	Lung NSC(77;0.0178)|Renal(3;0.122)		269					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.807T>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.443287	0.63067	.	.	ENSG00000168143	ENST00000306858	T	0.19938	2.11	5.42	3.04	0.35103	.	0.162703	0.56097	N	0.000033	T	0.35682	0.0940	M	0.86343	2.81	0.47905	D	0.999542	D	0.71674	0.998	D	0.67725	0.953	T	0.37079	-0.9721	10	0.87932	D	0	-27.157	9.4996	0.39008	0.0:0.1437:0.0:0.8563	.	269	Q5T0W9	FA83B_HUMAN	L	269	ENSP00000304078:F269L	ENSP00000304078:F269L	F	+	3	2	FAM83B	54912535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.967000	0.40491	1.004000	0.39156	0.482000	0.46254	TTT		0.398	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
ADAP1	11033	broad.mit.edu	37	7	959664	959664	+	Missense_Mutation	SNP	C	C	T	rs373846581		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:959664C>T	ENST00000265846.5	-	4	548	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	ADAP1_ENST00000449296.2_Missense_Mutation_p.R38Q|ADAP1_ENST00000539900.1_Missense_Mutation_p.R121Q|ADAP1_ENST00000463358.1_5'UTR	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	110	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R110Q(1)		endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTACTTGGCCCGGATCCACTG	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		8018	0.0		0.0	False		,,,				2504	0.0					uc003sjo.4																			1	Substitution - Missense(1)	p.R110Q(2)	upper_aerodigestive_tract(1)	endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(328-330)cGg>cAg		Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.		C	GLN/ARG	0,4404		0,0,2202	38.0	35.0	36.0		329	4.5	1.0	7		36	1,8591	1.2+/-3.3	0,1,4295	no	missense	ADAP1	NM_006869.2	43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	110/375	959664	1,12995	2202	4296	6498	SO:0001583	missense	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:959664C>T	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16486	protein-coding gene	gene with protein product		608114	"""centaurin, alpha 1"""	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.329G>A	7.37:g.959664C>T	ENSP00000265846:p.Arg110Gln					ADAP1_uc011jvs.2_Missense_Mutation_p.R15Q|ADAP1_uc003sjn.4_Missense_Mutation_p.R38Q|ADAP1_uc010ksc.3_Missense_Mutation_p.R38Q	p.R110Q	NM_006869	NP_006860	O75689	ADAP1_HUMAN			3	522	-			110			Arf-GAP.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	37	c.329G>A	CCDS5318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.084852|5.084852	0.94100|0.94100	0.0|0.0	1.16E-4|1.16E-4	ENSG00000105963|ENSG00000105963	ENST00000446141;ENST00000437486;ENST00000453823|ENST00000265846;ENST00000449296;ENST00000538188;ENST00000539900;ENST00000435943	.|T;T;T;T	.|0.47528	.|0.84;0.85;0.84;0.84	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|0.112189	.|0.56097	.|D	.|0.000024	T|T	0.68796|0.68796	0.3040|0.3040	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.70716	.|0.969;0.97	T|T	0.74562|0.74562	-0.3624|-0.3624	5|10	.|0.87932	.|D	.|0	-33.1793|-33.1793	14.5163|14.5163	0.67821|0.67821	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|15;110	.|B4DUZ7;O75689	.|.;ADAP1_HUMAN	R|Q	93;44;53|110;38;15;121;97	.|ENSP00000265846:R110Q;ENSP00000407267:R38Q;ENSP00000442682:R121Q;ENSP00000394973:R97Q	.|ENSP00000265846:R110Q	G|R	-|-	1|2	0|0	ADAP1|ADAP1	926190|926190	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.816000|0.816000	0.46133|0.46133	4.105000|4.105000	0.57797|0.57797	2.215000|2.215000	0.71742|0.71742	0.549000|0.549000	0.68633|0.68633	GGG|CGG		0.682	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869	
MAD1L1	8379	broad.mit.edu	37	7	2255803	2255803	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:2255803G>A	ENST00000406869.1	-	8	1355	c.798C>T	c.(796-798)agC>agT	p.S266S	MAD1L1_ENST00000265854.7_Silent_p.S266S|MAD1L1_ENST00000402746.1_Silent_p.S174S|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000399654.2_Silent_p.S266S			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	266					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCAGGTGCGCGCTCTCCTCCC	0.637																																						uc003slh.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(796-798)agC>agT		Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.							48.0	54.0	52.0					7																	2255803		2026	4179	6205	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2255803G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.798C>T	7.37:g.2255803G>A						MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.S266S|MAD1L1_uc003slg.1_Silent_p.S266S|MAD1L1_uc010ksh.1_Silent_p.S266S|MAD1L1_uc003sli.1_Silent_p.S174S|MAD1L1_uc010ksi.1_Silent_p.S219S|MAD1L1_uc010ksj.3_Silent_p.S266S	p.S266S	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	7	1064	-		Ovarian(82;0.0272)	266					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.798C>T	CCDS43539.1																																																																																				0.637	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550	
ELMO1	9844	broad.mit.edu	37	7	36917679	36917679	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:36917679C>T	ENST00000310758.4	-	19	2405	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	ELMO1_ENST00000448602.1_Silent_p.L586L|ELMO1_ENST00000442504.1_Silent_p.L586L|ELMO1_ENST00000341056.3_Silent_p.L288L|ELMO1_ENST00000396045.3_Silent_p.L106L|ELMO1_ENST00000396040.2_Silent_p.L106L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	586	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTCCGTAATGCAGGACTTTGT	0.453																																						uc022abv.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1756-1758)ctG>ctA		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							87.0	78.0	81.0					7																	36917679		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36917679C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1758G>A	7.37:g.36917679C>T						ELMO1_uc003tfi.2_Silent_p.L106L|ELMO1_uc003tfj.2_Silent_p.L106L|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Silent_p.L490L|ELMO1_uc003tfk.2_Silent_p.L586L|ELMO1_uc010kxg.2_Silent_p.L586L	p.L586L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			18	2468	-			586			PH.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.1758G>A	CCDS5449.1																																																																																				0.453	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
ELMO1	9844	broad.mit.edu	37	7	37172811	37172811	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:37172811G>A	ENST00000310758.4	-	14	1762	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	ELMO1_ENST00000448602.1_Missense_Mutation_p.T372M|ELMO1_ENST00000442504.1_Missense_Mutation_p.T372M|ELMO1_ENST00000341056.3_Missense_Mutation_p.T74M	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	372	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.T372M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGGAGTCTGCGTGAAGTCCAT	0.463																																						uc022abv.1																			1	Substitution - Missense(1)	p.T372M(2)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1114-1116)aCg>aTg		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							155.0	134.0	141.0					7																	37172811		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37172811G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1115C>T	7.37:g.37172811G>A	ENSP00000312185:p.Thr372Met					ELMO1_uc011kbc.2_Missense_Mutation_p.T276M|ELMO1_uc003tfk.2_Missense_Mutation_p.T372M|ELMO1_uc010kxg.2_Missense_Mutation_p.T372M	p.T372M	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			13	1825	-			372			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1115C>T	CCDS5449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.95|14.95	2.689557|2.689557	0.48097|0.48097	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	.|T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Engulfment/cell motility, ELMO (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22666|0.22666	0.0547|0.0547	N|N	0.16903|0.16903	0.455|0.455	0.58432|0.58432	D|D	0.999997|0.999997	.|B	.|0.25772	.|0.134	.|B	.|0.22753	.|0.041	T|T	0.03503|0.03503	-1.1030|-1.1030	5|10	.|0.40728	.|T	.|0.16	.|.	18.0472|18.0472	0.89336|0.89336	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|372	.|Q92556	.|ELMO1_HUMAN	C|M	152|74;372;276;372;372	.|ENSP00000342142:T74M;ENSP00000312185:T372M;ENSP00000406952:T372M;ENSP00000394458:T372M	.|ENSP00000312185:T372M	R|T	-|-	1|2	0|0	ELMO1|ELMO1	37139336|37139336	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.959000|0.959000	0.62525|0.62525	7.036000|7.036000	0.76524|0.76524	2.650000|2.650000	0.89964|0.89964	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.463	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
DDC	1644	broad.mit.edu	37	7	50596925	50596925	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:50596925A>G	ENST00000444124.2	-	5	751	c.551T>C	c.(550-552)gTg>gCg	p.V184A	DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.V184A|DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Missense_Mutation_p.V106A|DDC_ENST00000380984.4_Missense_Mutation_p.V184A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	184					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TGAGTAAGCCACCAGCTTCTC	0.547																																						uc003tpg.4																			0		p.V184V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(550-552)gTg>gCg		Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						86.0	81.0	83.0					7																	50596925		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50596925A>G		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.551T>C	7.37:g.50596925A>G	ENSP00000403644:p.Val184Ala					DDC_uc022ade.1_Missense_Mutation_p.V106A|DDC_uc003tpf.4_Missense_Mutation_p.V184A|DDC_uc022adb.1_Missense_Mutation_p.V146A|DDC_uc022adc.1_Missense_Mutation_p.V184A|DDC_uc022add.1_Intron|DDC_uc022adf.1_Missense_Mutation_p.V184A|LOC100129427_uc022adg.1_5'Flank	p.V184A	NM_001082971	NP_001076440	P20711	DDC_HUMAN			4	752	-	Glioma(55;0.08)|all_neural(89;0.245)		184					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.551T>C	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046489	0.36085	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.95	3.8	0.43715	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.053014	0.85682	D	0.000000	T	0.69233	0.3088	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.72431	-0.4296	10	0.87932	D	0	-44.3487	9.6903	0.40125	0.9169:0.0:0.0831:0.0	.	184	P20711	DDC_HUMAN	A	184;106;184;184	ENSP00000350616:V184A;ENSP00000395069:V106A;ENSP00000403644:V184A;ENSP00000370371:V184A	ENSP00000350616:V184A	V	-	2	0	DDC	50564419	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	7.972000	0.88022	0.919000	0.36945	-0.250000	0.11733	GTG		0.547	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1		
EGFR	1956	broad.mit.edu	37	7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:55221743A>C	ENST00000275493.2	+	7	964	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_ENST00000342916.3_Missense_Mutation_p.T263P|EGFR_ENST00000442591.1_Missense_Mutation_p.T263P|EGFR_ENST00000455089.1_Missense_Mutation_p.T218P|EGFR_ENST00000454757.2_Missense_Mutation_p.T210P|EGFR_ENST00000420316.2_Missense_Mutation_p.T263P|EGFR_ENST00000344576.2_Missense_Mutation_p.T263P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.T263P(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCAAGGACACCTGCCCCCC	0.577		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		4	Substitution - Missense(4)	p.T263P(8)|p.V30_R297>G(5)	central_nervous_system(4)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(787-789)Acc>Ccc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						220.0	172.0	188.0					7																	55221743		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221743A>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.787A>C	7.37:g.55221743A>C	ENSP00000275493:p.Thr263Pro	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.T263P|EGFR_uc003tqi.3_Missense_Mutation_p.T263P|EGFR_uc003tqj.3_Missense_Mutation_p.T263P|EGFR_uc022adm.1_Missense_Mutation_p.T263P|EGFR_uc010kzg.2_Missense_Mutation_p.T218P|EGFR_uc022adn.1_Missense_Mutation_p.T218P|EGFR_uc011kco.2_Missense_Mutation_p.T210P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.T263P	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1033	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		263					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.787A>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866807	0.51588	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.244508	0.45361	D	0.000372	D	0.86619	0.5976	M	0.68593	2.085	0.39155	D	0.962303	P;P;P;P;P	0.52061	0.642;0.483;0.95;0.894;0.794	B;B;P;P;P	0.51079	0.433;0.286;0.658;0.56;0.487	D	0.87155	0.2211	10	0.42905	T	0.14	.	9.6762	0.40043	0.9225:0.0:0.0775:0.0	.	218;263;263;263;263	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	P	218;263;133;263;263;263;263;210;57	ENSP00000415559:T218P;ENSP00000342376:T263P;ENSP00000345973:T263P;ENSP00000413843:T263P;ENSP00000275493:T263P;ENSP00000410031:T263P;ENSP00000395243:T210P	ENSP00000275493:T263P	T	+	1	0	EGFR	55189237	0.996000	0.38824	1.000000	0.80357	0.970000	0.65996	2.639000	0.46570	2.272000	0.75746	0.460000	0.39030	ACC		0.577	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CACNA2D1	781	broad.mit.edu	37	7	81589046	81589046	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:81589046C>T	ENST00000356253.5	-	37	3357	c.3102G>A	c.(3100-3102)gcG>gcA	p.A1034A	CACNA2D1_ENST00000356860.3_Silent_p.A1022A|CACNA2D1_ENST00000535308.1_Silent_p.A234A			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1034					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAGTCTGCTCCGCTTGTATGA	0.368																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3064-3066)gcG>gcA		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						83.0	73.0	76.0					7																	81589046		2202	4300	6502	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81589046C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3102G>A	7.37:g.81589046C>T						CACNA2D1_uc011kgy.1_Silent_p.A234A	p.A1022A	NM_000722	NP_000713	P54289	CA2D1_HUMAN			36	3322	-			1034					Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.3066G>A																																																																																					0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:87214993G>A	ENST00000265724.3	-	5	538	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R41C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	41					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTTGAATAGCGAAACTAAAAA	0.378																																						uc003uiz.2																			0		p.R41H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(121-123)Cgc>Tgc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						49.0	51.0	50.0					7																	87214993		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87214993G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.121C>T	7.37:g.87214993G>A	ENSP00000265724:p.Arg41Cys					ABCB1_uc011khc.2_Missense_Mutation_p.R41C	p.R41C	NM_000927	NP_000918	P08183	MDR1_HUMAN			4	614	-	Esophageal squamous(14;0.00164)		41					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.121C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159578	0.38119	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177	D;D;T	0.84873	-1.91;-1.91;0.47	5.72	4.82	0.62117	ABC transporter, transmembrane domain, type 1 (1);	0.102456	0.64402	D	0.000002	D	0.83487	0.5265	N	0.08118	0	0.48696	D	0.999694	D;D	0.89917	0.984;1.0	P;D	0.97110	0.585;1.0	D	0.85909	0.1439	10	0.87932	D	0	-11.0394	12.2311	0.54488	0.0:0.0:0.8314:0.1686	.	41;41	B5AK60;P08183	.;MDR1_HUMAN	C	41	ENSP00000265724:R41C;ENSP00000444095:R41C;ENSP00000399419:R41C	ENSP00000265724:R41C	R	-	1	0	ABCB1	87052929	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.548000	0.45794	2.700000	0.92200	0.563000	0.77884	CGC		0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
RUNDC3B	154661	broad.mit.edu	37	7	87280179	87280179	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:87280179C>A	ENST00000338056.3	+	2	575	c.164C>A	c.(163-165)aCa>aAa	p.T55K	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T55K|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.T55K	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	55										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGCTTTGAGACAATTGATGAT	0.338																																						uc003ujb.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(163-165)aCa>aAa		Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.							88.0	86.0	86.0					7																	87280179		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87280179C>A		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.164C>A	7.37:g.87280179C>A	ENSP00000337732:p.Thr55Lys					ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.T55K|RUNDC3B_uc011khe.2_Missense_Mutation_p.T55K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.T55K	p.T55K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			1	575	+	Esophageal squamous(14;0.00164)		55					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.164C>A	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984472	0.93044	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.12255	2.7;2.7;2.7	5.07	5.07	0.68467	.	0.099330	0.64402	D	0.000002	T	0.27349	0.0671	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.989;0.972	D;D;D;P	0.78314	0.991;0.991;0.978;0.694	T	0.01743	-1.1283	10	0.54805	T	0.06	-7.4738	17.5686	0.87928	0.0:1.0:0.0:0.0	.	55;55;55;55	E9PBR4;B4DFD0;Q96NL0-4;Q96NL0	.;.;.;RUN3B_HUMAN	K	55	ENSP00000337732:T55K;ENSP00000420394:T55K;ENSP00000378149:T55K	ENSP00000337732:T55K	T	+	2	0	RUNDC3B	87118115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.501000	0.84356	0.585000	0.79938	ACA		0.338	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290	
PON1	5444	broad.mit.edu	37	7	94937424	94937424	+	Silent	SNP	A	A	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:94937424A>T	ENST00000222381.3	-	6	828	c.597T>A	c.(595-597)ggT>ggA	p.G199G	PON1_ENST00000542556.1_Silent_p.G199G	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	199					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	ACCACGCTAAACCCAAATACA	0.418																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.3																			0		p.L198fs*3(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(595-597)ggT>ggA		Homo sapiens paraoxonase 1 (PON1), mRNA.	Atorvastatin(DB01076)|Cefazolin(DB01327)						143.0	119.0	127.0					7																	94937424		2203	4300	6503	SO:0001819	synonymous_variant	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94937424A>T	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.597T>A	7.37:g.94937424A>T						PON1_uc011kih.2_Silent_p.G199G	p.G199G	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	694	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		199					B2RA40|Q16052|Q6B0J6|Q9UCB1	Silent	SNP	ENST00000222381.3	37	c.597T>A	CCDS5638.1																																																																																				0.418	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446	
LRCH4	4034	broad.mit.edu	37	7	100175848	100175848	+	Silent	SNP	G	G	A	rs150987161	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:100175848G>A	ENST00000310300.6	-	7	934	c.882C>T	c.(880-882)taC>taT	p.Y294Y	LRCH4_ENST00000497245.1_De_novo_Start_OutOfFrame	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	294					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCACCATCGTACCGATGTC	0.597																																						uc003uvj.3																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(880-882)taC>taT		Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.		G		8,4398	14.3+/-33.2	0,8,2195	126.0	99.0	108.0		882	-6.2	0.9	7	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	LRCH4	NM_002319.3		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		294/684	100175848	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	4034				nervous system development	PML body	protein binding	g.chr7:100175848G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.882C>T	7.37:g.100175848G>A						LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	p.Y294Y	NM_002319	NP_002310	O75427	LRCH4_HUMAN			6	935	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		294					A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	c.882C>T	CCDS34706.1																																																																																				0.597	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319	
PCOLCE	5118	broad.mit.edu	37	7	100201641	100201641	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:100201641C>T	ENST00000223061.5	+	3	544	c.264C>T	c.(262-264)ccC>ccT	p.P88P	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	88	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCTGCACCCCGCCTGCCGCT	0.672																																						uc003uvo.3																			0		p.H87P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(262-264)ccC>ccT		Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.							64.0	68.0	67.0					7																	100201641		2203	4300	6503	SO:0001819	synonymous_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100201641C>T	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.264C>T	7.37:g.100201641C>T						LOC100129845_uc011kjy.2_Non-coding_Transcript|LOC100129845_uc022air.1_5'Flank|PCOLCE_uc011kkb.1_Silent_p.P88P	p.P88P	NM_002593	NP_002584	Q15113	PCOC1_HUMAN			2	462	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		88			CUB 1.		B2R9E1|O14550	Silent	SNP	ENST00000223061.5	37	c.264C>T	CCDS5700.1																																																																																				0.672	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593	
SH2D4A	63898	broad.mit.edu	37	8	19190497	19190497	+	Silent	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:19190497A>G	ENST00000265807.3	+	3	624	c.213A>G	c.(211-213)ggA>ggG	p.G71G	SH2D4A_ENST00000518040.1_Silent_p.G26G|SH2D4A_ENST00000519207.1_Silent_p.G71G	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	71					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGAAACTTGGAGCTGATAAGG	0.408																																						uc003wzc.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(211-213)ggA>ggG		Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.							170.0	161.0	164.0					8																	19190497		2203	4300	6503	SO:0001819	synonymous_variant	63898					cytoplasm|nucleus	protein binding	g.chr8:19190497A>G	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.213A>G	8.37:g.19190497A>G						SH2D4A_uc003wzb.3_Silent_p.G71G|SH2D4A_uc011kym.2_Silent_p.G26G	p.G71G	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	2	521	+			71					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Silent	SNP	ENST00000265807.3	37	c.213A>G	CCDS6009.1																																																																																				0.408	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071	
CPSF1	29894	broad.mit.edu	37	8	145623823	145623823	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:145623823G>A	ENST00000349769.3	-	19	1857	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	588					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|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)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCCTGCCCCGTCTGCAGGAT	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1762-1764)aCg>aTg		Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.							78.0	83.0	82.0					8																	145623823		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623823G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1763C>T	8.37:g.145623823G>A	ENSP00000339353:p.Thr588Met						p.T588M	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		18	1838	-	all_cancers(97;6.64e-12)|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)		588					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1763C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532109	0.85812	.	.	ENSG00000071894	ENST00000349769	T	0.42900	0.96	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72629	-0.4235	10	0.87932	D	0	-11.9983	17.2111	0.86930	0.0:0.0:1.0:0.0	.	588	Q10570	CPSF1_HUMAN	M	588	ENSP00000339353:T588M	ENSP00000339353:T588M	T	-	2	0	CPSF1	145594631	1.000000	0.71417	0.960000	0.40013	0.643000	0.38383	6.724000	0.74747	2.658000	0.90341	0.655000	0.94253	ACG		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	
LRRC14	9684	broad.mit.edu	37	8	145745327	145745327	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:145745327G>A	ENST00000292524.1	+	2	364	c.218G>A	c.(217-219)cGt>cAt	p.R73H	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.R73H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	73										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACTGCAGCCGTGCCCTCCTG	0.627																																						uc003zdk.2																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(217-219)cGt>cAt		Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.							68.0	69.0	68.0					8																	145745327		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145745327G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.218G>A	8.37:g.145745327G>A	ENSP00000292524:p.Arg73His					RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.R73H	p.R73H	NM_014665	NP_055480	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		1	392	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		73					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.218G>A	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571194	0.65765	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.46451	2.2;5.03;5.03;0.9;0.87	3.95	3.95	0.45737	.	0.359789	0.22411	N	0.060419	T	0.44582	0.1300	L	0.40543	1.245	0.34090	D	0.660614	D	0.63046	0.992	P	0.51974	0.686	T	0.58662	-0.7597	10	0.44086	T	0.13	.	13.5144	0.61533	0.0:0.0:1.0:0.0	.	73	Q15048	LRC14_HUMAN	H	73	ENSP00000436452:R73H;ENSP00000434768:R73H;ENSP00000292524:R73H;ENSP00000435985:R73H;ENSP00000434738:R73H	ENSP00000292524:R73H	R	+	2	0	LRRC14	145716135	0.024000	0.19004	0.989000	0.46669	0.939000	0.58152	2.009000	0.40903	2.052000	0.61016	0.462000	0.41574	CGT		0.627	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665	
VLDLR	7436	broad.mit.edu	37	9	2643641	2643641	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:2643641C>T	ENST00000382100.3	+	6	1190	c.834C>T	c.(832-834)tgC>tgT	p.C278C	VLDLR_ENST00000382099.2_Silent_p.C278C|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	278	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTCGAACTTGCCGACCTGACC	0.488																																						uc003zhk.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(832-834)tgC>tgT		Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.							140.0	113.0	122.0					9																	2643641		2203	4300	6503	SO:0001819	synonymous_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2643641C>T		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.834C>T	9.37:g.2643641C>T						VLDLR_uc003zhl.1_Silent_p.C278C|VLDLR_uc003zhm.1_Non-coding_Transcript	p.C278C	NM_003383	NP_003374	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	5	1231	+			278			LDL-receptor class A 7.		B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	c.834C>T	CCDS6446.1																																																																																				0.488	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383	
FAM122A	116224	broad.mit.edu	37	9	71395730	71395730	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:71395730T>C	ENST00000394264.3	+	1	767	c.650T>C	c.(649-651)tTt>tCt	p.F217S	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	217										endometrium(1)|lung(2)	3						CCAAAGAGATTTTTCCAGGGC	0.453																																						uc004agw.1																			0				endometrium(1)|lung(2)	3						c.(649-651)tTt>tCt		Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.							112.0	109.0	110.0					9																	71395730		2203	4300	6503	SO:0001583	missense	116224							g.chr9:71395730T>C	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.650T>C	9.37:g.71395730T>C	ENSP00000377807:p.Phe217Ser					PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	p.F217S	NM_138333	NP_612206	Q96E09	F122A_HUMAN			0	767	+			217						Missense_Mutation	SNP	ENST00000394264.3	37	c.650T>C	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.950594	0.53186	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	T	0.57595	0.39	4.42	4.42	0.53409	.	0.081763	0.64402	D	0.000008	T	0.36054	0.0953	L	0.34521	1.04	0.32160	N	0.583105	P	0.40476	0.718	B	0.35353	0.201	T	0.45585	-0.9251	10	0.22706	T	0.39	-31.4694	10.3563	0.43967	0.0:0.0:0.0:1.0	.	217	Q96E09	F122A_HUMAN	S	217;201	ENSP00000377807:F217S	ENSP00000366492:F201S	F	+	2	0	FAM122A	70585550	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.956000	0.70315	2.227000	0.72691	0.460000	0.39030	TTT		0.453	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333	
NFIL3	4783	broad.mit.edu	37	9	94172272	94172272	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:94172272C>T	ENST00000297689.3	-	2	1139	c.745G>A	c.(745-747)Ggg>Agg	p.G249R		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	249					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AAAGAATTCCCCATATAGTTT	0.498																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	uc022bjt.1																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(745-747)Ggg>Agg		Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.							122.0	125.0	124.0					9																	94172272		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172272C>T	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.745G>A	9.37:g.94172272C>T	ENSP00000297689:p.Gly249Arg					NFIL3_uc004arh.3_Missense_Mutation_p.G249R	p.G249R	NM_005384	NP_005375	Q16649	NFIL3_HUMAN			0	745	-			249					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.745G>A	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145597	0.37923	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	3.76	0.43208	Vertebrate interleukin-3 regulated transcription factor (1);	0.152871	0.44688	D	0.000435	T	0.74854	0.3771	M	0.67953	2.075	0.45318	D	0.99831	D	0.69078	0.997	D	0.70016	0.967	T	0.76515	-0.2931	9	0.54805	T	0.06	-36.3199	12.7752	0.57443	0.0:0.9207:0.0:0.0793	.	249	Q16649	NFIL3_HUMAN	R	249	.	ENSP00000297689:G249R	G	-	1	0	NFIL3	93212093	0.998000	0.40836	0.621000	0.29145	0.079000	0.17450	4.038000	0.57318	1.199000	0.43173	0.561000	0.74099	GGG		0.498	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384	
FGD3	89846	broad.mit.edu	37	9	95768391	95768391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:95768391C>T	ENST00000375482.3	+	6	1262	c.766C>T	c.(766-768)Cga>Tga	p.R256*	FGD3_ENST00000337352.6_Nonsense_Mutation_p.R256*|FGD3_ENST00000416701.2_Nonsense_Mutation_p.R256*	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	256	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAACTTTGACCGAGCCGTAGG	0.582																																						uc004asz.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(766-768)Cga>Tga		Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.							67.0	74.0	72.0					9																	95768391		2164	4285	6449	SO:0001587	stop_gained	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95768391C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.766C>T	9.37:g.95768391C>T	ENSP00000364631:p.Arg256*					FGD3_uc004asw.2_Nonsense_Mutation_p.R256*|FGD3_uc004asx.2_Nonsense_Mutation_p.R256*|FGD3_uc004ata.3_Nonsense_Mutation_p.R59*	p.R256*	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN			5	1294	+			256			DH.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Nonsense_Mutation	SNP	ENST00000375482.3	37	c.766C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	42	9.638581	0.99226	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	.	.	.	4.54	-1.18	0.09617	.	0.000000	0.36234	N	0.002715	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.066	0.71996	0.8263:0.1737:0.0:0.0	.	.	.	.	X	256	.	ENSP00000336914:R256X	R	+	1	2	FGD3	94808212	1.000000	0.71417	0.983000	0.44433	0.948000	0.59901	1.961000	0.40432	-0.136000	0.11475	0.655000	0.94253	CGA		0.582	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086	
HEMGN	55363	broad.mit.edu	37	9	100700360	100700360	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:100700360T>C	ENST00000259456.3	-	2	202	c.59A>G	c.(58-60)cAa>cGa	p.Q20R		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	20	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTCTCTTCTTGATGAGGGTC	0.423																																						uc004axy.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(58-60)cAa>cGa		Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.							214.0	183.0	194.0					9																	100700360		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100700360T>C	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.59A>G	9.37:g.100700360T>C	ENSP00000259456:p.Gln20Arg					HEMGN_uc004axz.3_Missense_Mutation_p.Q20R	p.Q20R	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			0	167	-		Acute lymphoblastic leukemia(62;0.0559)	20			Necessary for nuclear localization.		Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.59A>G	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	T	8.885	0.952651	0.18431	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.34	-0.786	0.10946	.	0.504809	0.20146	N	0.098273	T	0.26304	0.0642	L	0.55481	1.735	0.09310	N	1	B	0.14805	0.011	B	0.20955	0.032	T	0.29366	-1.0014	9	0.07175	T	0.84	0.0	2.5731	0.04799	0.1404:0.0921:0.3997:0.3678	.	20	Q9BXL5	HEMGN_HUMAN	R	20	.	ENSP00000259456:Q20R	Q	-	2	0	HEMGN	99740181	0.003000	0.15002	0.000000	0.03702	0.381000	0.30169	0.355000	0.20163	-0.297000	0.08934	0.533000	0.62120	CAA		0.423	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978	
KLF4	9314	broad.mit.edu	37	9	110249362	110249362	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:110249362C>T	ENST00000374672.4	-	4	1684	c.1211G>A	c.(1210-1212)gGc>gAc	p.G404D		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	438	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTAGGTTTTGCCGCAGCCCGC	0.602																																						uc004bdh.3																			0		p.A429S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1285-1287)gGc>gAc		Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.							275.0	246.0	256.0					9																	110249362		2203	4300	6503	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249362C>T	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1211G>A	9.37:g.110249362C>T	ENSP00000363804:p.Gly404Asp					KLF4_uc004bdf.2_Missense_Mutation_p.G354D|KLF4_uc022blk.1_Missense_Mutation_p.G70D|KLF4_uc004bdg.3_Missense_Mutation_p.G404D	p.G429D	NM_004235	NP_004226	O43474	KLF4_HUMAN			2	1907	-			438					B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1286G>A	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	34	5.408949	0.96072	.	.	ENSG00000136826	ENST00000374672	T	0.35236	1.32	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.332375	0.21750	N	0.069683	T	0.57446	0.2054	M	0.67569	2.06	0.80722	D	1	D;D	0.59767	0.986;0.975	P;P	0.59643	0.722;0.861	T	0.59247	-0.7490	10	0.72032	D	0.01	.	19.1577	0.93518	0.0:1.0:0.0:0.0	.	438;404	O43474;O43474-1	KLF4_HUMAN;.	D	404	ENSP00000363804:G404D	ENSP00000363804:G404D	G	-	2	0	KLF4	109289183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.617000	0.88574	0.655000	0.94253	GGC		0.602	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235	
TPRN	286262	broad.mit.edu	37	9	140086816	140086816	+	Splice_Site	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:140086816G>T	ENST00000409012.4	-	3	2054	c.1968C>A	c.(1966-1968)ggC>ggA	p.G656G	TPRN_ENST00000321773.2_Splice_Site_p.G595G|TPRN_ENST00000541945.1_5'Flank	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	656					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						AGCTGGACAGGCCTGTGAATG	0.672																																						uc004clt.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.e3-1		Homo sapiens taperin (TPRN), mRNA.							28.0	25.0	26.0					9																	140086816		2202	4299	6501	SO:0001630	splice_region_variant	286262				sensory perception of sound	stereocilium		g.chr9:140086816G>T	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1967-1C>A	9.37:g.140086816G>T						TPRN_uc004clu.3_Splice_Site_p.G656_splice	p.G656_splice	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN			3	1967	-			656					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Silent	SNP	ENST00000409012.4	37	c.1967_splice	CCDS56594.1																																																																																				0.672	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691	Silent
OFD1	8481	broad.mit.edu	37	X	13786260	13786260	+	Missense_Mutation	SNP	G	G	C	rs312262895		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:13786260G>C	ENST00000340096.6	+	21	3172	c.2845G>C	c.(2845-2847)Gac>Cac	p.D949H	OFD1_ENST00000380550.3_Missense_Mutation_p.D909H|OFD1_ENST00000380567.1_Missense_Mutation_p.D809H|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	949	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAATAAAAGACAAATCTGC	0.358																																						uc004cvp.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2845-2847)Gac>Cac		Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.							36.0	35.0	35.0					X																	13786260		2202	4297	6499	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13786260G>C	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2845G>C	X.37:g.13786260G>C	ENSP00000344314:p.Asp949His					OFD1_uc004cvr.4_Missense_Mutation_p.D479H|OFD1_uc011mil.2_Missense_Mutation_p.D516H|OFD1_uc004cvq.4_Missense_Mutation_p.D772H|OFD1_uc010nen.3_Missense_Mutation_p.D947H|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.D908H|OFD1_uc004cvv.4_Missense_Mutation_p.D907H	p.D949H	NM_003611	NP_003602	O75665	OFD1_HUMAN			20	3204	+			949			Mediates the interaction with SDCCAG8.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.2845G>C	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	g	13.55	2.269211	0.40095	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96104	-2.3;-3.91;-1.79	4.92	4.03	0.46877	.	0.378186	0.26535	N	0.023833	D	0.95287	0.8471	M	0.62723	1.935	0.09310	N	1	P;P;D;D;P	0.55385	0.899;0.899;0.971;0.971;0.899	P;P;P;P;P	0.53549	0.639;0.639;0.729;0.729;0.639	D	0.89980	0.4100	10	0.59425	D	0.04	-9.4602	9.581	0.39488	0.1683:0.0:0.8317:0.0	.	948;909;617;809;949	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	H	909;949;809	ENSP00000369923:D909H;ENSP00000344314:D949H;ENSP00000369941:D809H	ENSP00000344314:D949H	D	+	1	0	OFD1	13696181	0.972000	0.33761	0.029000	0.17559	0.136000	0.21042	5.184000	0.65070	2.181000	0.69327	0.425000	0.28330	GAC		0.358	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611	
HUWE1	10075	broad.mit.edu	37	X	53612010	53612010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:53612010G>A	ENST00000342160.3	-	39	5420	c.4963C>T	c.(4963-4965)Cga>Tga	p.R1655*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.R1655*|HUWE1_ENST00000218328.8_Nonsense_Mutation_p.R1655*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1655	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				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						TATCTTCTTCGGCCTGCAGTG	0.502																																						uc004dsp.3																			0				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						c.(4963-4965)Cga>Tga		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							280.0	199.0	226.0					X																	53612010		2203	4300	6503	SO:0001587	stop_gained	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:53612010G>A	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.4963C>T	X.37:g.53612010G>A	ENSP00000340648:p.Arg1655*					HUWE1_uc004dsn.3_Nonsense_Mutation_p.R480*	p.R1655*	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			39	5365	-			1655			WWE.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	ENST00000342160.3	37	c.4963C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	48|48	14.648387|14.648387	0.99804|0.99804	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854;ENST00000218328	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.442414	.|0.21891	.|N	.|0.067588	T|.	0.44519|.	0.1297|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41233|.	-0.9520|.	3|.	.|0.02654	.|T	.|1	.|.	17.3373|17.3373	0.87285|0.87285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	688|1655	.|.	.|ENSP00000218328:R1655X	P|R	-|-	2|1	0|2	HUWE1|HUWE1	53628735|53628735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.159000|4.159000	0.58157|0.58157	2.361000|2.361000	0.80049|0.80049	0.600000|0.600000	0.82982|0.82982	CCG|CGA		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
OGT	8473	broad.mit.edu	37	X	70777507	70777507	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:70777507C>A	ENST00000373719.3	+	12	1804	c.1587C>A	c.(1585-1587)aaC>aaA	p.N529K	OGT_ENST00000373701.3_Missense_Mutation_p.N519K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	529					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GGCACGGCAACCTGTGCTTAG	0.368																																						uc004eaa.2																			0		p.L528P(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1585-1587)aaC>aaA		Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.							99.0	65.0	76.0					X																	70777507		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70777507C>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1587C>A	X.37:g.70777507C>A	ENSP00000362824:p.Asn529Lys					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.N519K|OGT_uc004eac.3_Missense_Mutation_p.N390K|OGT_uc004ead.3_Missense_Mutation_p.N148K	p.N529K	NM_181672	NP_858058	O15294	OGT1_HUMAN			11	1825	+	Renal(35;0.156)		529					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.1587C>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769288	0.31320	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.16597	2.33;2.33	5.92	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.84585	2.705	0.80722	D	1	B;P;P	0.47841	0.338;0.901;0.486	B;B;B	0.38985	0.037;0.287;0.203	T	0.17198	-1.0377	10	0.13108	T	0.6	-17.035	10.3407	0.43877	0.0:0.8253:0.0:0.1747	.	403;519;529	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	K	529;519	ENSP00000362824:N529K;ENSP00000362805:N519K	ENSP00000362805:N519K	N	+	3	2	OGT	70694232	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.058000	0.41374	1.227000	0.43598	0.600000	0.82982	AAC		0.368	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	
DRP2	1821	broad.mit.edu	37	X	100511129	100511129	+	Missense_Mutation	SNP	C	C	T	rs201693431		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:100511129C>T	ENST00000395209.3	+	21	2796	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	DRP2_ENST00000538510.1_Missense_Mutation_p.R757W|DRP2_ENST00000402866.1_Missense_Mutation_p.R757W|DRP2_ENST00000541709.1_Missense_Mutation_p.R679W	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	757					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTACCTGCTGCGGCACTCCAG	0.582																																						uc004egz.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(2269-2271)Cgg>Tgg		Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.							97.0	87.0	91.0					X																	100511129		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100511129C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2269C>T	X.37:g.100511129C>T	ENSP00000378635:p.Arg757Trp					DRP2_uc011mrh.1_Missense_Mutation_p.R679W	p.R757W	NM_001939	NP_001164655	Q13474	DRP2_HUMAN			20	2638	+			757					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2269C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941727	0.73557	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.48	2.33	0.28932	.	0.000000	0.85682	D	0.000000	D	0.89952	0.6864	M	0.73962	2.25	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	D	0.90645	0.4578	10	0.87932	D	0	-19.7436	15.2775	0.73753	0.37:0.63:0.0:0.0	.	757	Q13474	DRP2_HUMAN	W	757;757;679;757	ENSP00000385038:R757W;ENSP00000378635:R757W;ENSP00000444752:R679W;ENSP00000441051:R757W	ENSP00000378635:R757W	R	+	1	2	DRP2	100397785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.034000	0.49751	0.471000	0.27319	0.600000	0.82982	CGG		0.582	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	
COL4A5	1287	broad.mit.edu	37	X	107939578	107939578	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:107939578C>T	ENST00000361603.2	+	51	5272	c.5028C>T	c.(5026-5028)agC>agT	p.S1676S	COL4A5_ENST00000328300.6_Silent_p.S1682S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1676	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CACGAATTAGCCGATGTCAAG	0.348									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(5044-5046)agC>agT		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							116.0	102.0	107.0					X																	107939578		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107939578C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.5028C>T	X.37:g.107939578C>T						COL4A5_uc004enz.1_Silent_p.S1676S	p.S1682S	NM_033380	NP_203699	P29400	CO4A5_HUMAN			52	5248	+			1676		Missing (in APSX).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.5046C>T	CCDS14543.1																																																																																				0.348	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
LONRF3	79836	broad.mit.edu	37	X	118145848	118145848	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:118145848T>A	ENST00000371628.3	+	8	1754	c.1723T>A	c.(1723-1725)Ttt>Att	p.F575I	LONRF3_ENST00000422289.2_Missense_Mutation_p.F319I|LONRF3_ENST00000304778.7_Missense_Mutation_p.F534I|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	575	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGCACATCTTTGAGCCTTG	0.478																																						uc004eqw.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1723-1725)Ttt>Att		Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.							328.0	239.0	269.0					X																	118145848		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118145848T>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1723T>A	X.37:g.118145848T>A	ENSP00000360690:p.Phe575Ile					LONRF3_uc004eqx.3_Missense_Mutation_p.F534I|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.F319I	p.F575I	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			7	1754	+			575			Lon.		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1723T>A	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.6|28.6	4.938125|4.938125	0.92526|0.92526	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89|.	5.92|5.92	4.73|4.73	0.59995|0.59995	Peptidase S16, lon N-terminal (1);PUA-like domain (1);|.	0.115972|.	0.64402|.	D|.	0.000015|.	T|T	0.81283|0.81283	0.4790|0.4790	M|M	0.93808|0.93808	3.46|3.46	0.49130|0.49130	D|D	0.999755|0.999755	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.997;1.0|.	D|D	0.83794|0.83794	0.0232|0.0232	10|5	0.87932|.	D|.	0|.	-47.0874|-47.0874	10.7276|10.7276	0.46077|0.46077	0.1446:0.0:0.0:0.8554|0.1446:0.0:0.0:0.8554	.|.	319;534;575|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	I|H	534;534;575;319|340	ENSP00000360691:F534I;ENSP00000307732:F534I;ENSP00000360690:F575I;ENSP00000408894:F319I|.	ENSP00000307732:F534I|.	F|L	+|+	1|2	0|0	LONRF3|LONRF3	118029876|118029876	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	8.040000|8.040000	0.89188|0.89188	0.808000|0.808000	0.34231|0.34231	0.481000|0.481000	0.45027|0.45027	TTT|CTT		0.478	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778	
TMEM255A	55026	broad.mit.edu	37	X	119410766	119410766	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:119410766C>T	ENST00000309720.5	-	8	844	c.721G>A	c.(721-723)Gct>Act	p.A241T	TMEM255A_ENST00000371352.1_Missense_Mutation_p.A77T|TMEM255A_ENST00000371369.4_Missense_Mutation_p.A217T|TMEM255A_ENST00000440464.1_Intron	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	241						integral component of membrane (GO:0016021)											CCAAGGACAGCGGCAGTGATG	0.527																																						uc004eso.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						c.(721-723)Gct>Act		Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.							174.0	127.0	143.0					X																	119410766		2203	4300	6503	SO:0001583	missense	55026					integral to membrane		g.chrX:119410766C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.721G>A	X.37:g.119410766C>T	ENSP00000310110:p.Ala241Thr					FAM70A_uc004esp.4_Missense_Mutation_p.A217T|FAM70A_uc010nqo.3_Intron	p.A241T	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			7	948	-			241					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.721G>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255235	0.95336	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.58358	0.34;0.34;0.34	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.79736	-0.1678	10	0.72032	D	0.01	-11.2799	16.7868	0.85576	0.0:1.0:0.0:0.0	.	217;241	B1APR4;Q5JRV8	.;FA70A_HUMAN	T	241;217;77	ENSP00000310110:A241T;ENSP00000360420:A217T;ENSP00000360403:A77T	ENSP00000310110:A241T	A	-	1	0	FAM70A	119294794	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	7.487000	0.81328	2.168000	0.68352	0.594000	0.82650	GCT		0.527	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
GLUD2	2747	broad.mit.edu	37	X	120181970	120181970	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:120181970G>A	ENST00000328078.1	+	1	509	c.432G>A	c.(430-432)acG>acA	p.T144T		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	144					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGCACCGCACGCCCTGCAAGG	0.572																																						uc004eto.3																			0		p.R143C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(430-432)acG>acA		Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|NADH(DB00157)						79.0	58.0	65.0					X																	120181970		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181970G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.432G>A	X.37:g.120181970G>A							p.T144T	NM_012084	NP_036216	P49448	DHE4_HUMAN			0	509	+			144					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.432G>A	CCDS14603.1																																																																																				0.572	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084	
OCRL	4952	broad.mit.edu	37	X	128701326	128701326	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:128701326C>A	ENST00000371113.4	+	14	1617	c.1452C>A	c.(1450-1452)gaC>gaA	p.D484E	OCRL_ENST00000357121.5_Missense_Mutation_p.D484E	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	484	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTAAAACAGACCGGTGGGATT	0.393																																						uc004euq.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1450-1452)gaC>gaA		Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.							72.0	60.0	64.0					X																	128701326		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128701326C>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1452C>A	X.37:g.128701326C>A	ENSP00000360154:p.Asp484Glu					OCRL_uc004eur.3_Missense_Mutation_p.D484E	p.D484E	NM_000276	NP_000267	Q01968	OCRL_HUMAN			13	1617	+			484					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1452C>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590397	0.66219	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.80994	-1.44;-1.44	5.86	0.713	0.18173	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.70595	2.14	0.58432	D	0.999999	D;P	0.63046	0.992;0.548	D;B	0.68483	0.958;0.431	D	0.83688	0.0175	10	0.87932	D	0	.	9.1269	0.36821	0.0:0.3666:0.0:0.6334	.	484;484	Q01968-2;Q01968	.;OCRL_HUMAN	E	484	ENSP00000360154:D484E;ENSP00000349635:D484E	ENSP00000349635:D484E	D	+	3	2	OCRL	128529007	0.995000	0.38212	0.997000	0.53966	0.997000	0.91878	0.396000	0.20867	-0.068000	0.12953	0.600000	0.82982	GAC		0.393	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
XPNPEP2	7512	broad.mit.edu	37	X	128887224	128887224	+	Splice_Site	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:128887224C>T	ENST00000371106.3	+	11	1299	c.1107C>T	c.(1105-1107)caC>caT	p.H369H		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	369						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCCAGCCACGTAAGTCCAC	0.537																																						uc004eut.1																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.e11+1		Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.							138.0	107.0	117.0					X																	128887224		2203	4299	6502	SO:0001630	splice_region_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128887224C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1107+1C>T	X.37:g.128887224C>T							p.H369_splice	NM_003399	NP_003390	O43895	XPP2_HUMAN			11	1351	+			369					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.1107_splice	CCDS14613.1																																																																																				0.537	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	Silent
SAGE1	55511	broad.mit.edu	37	X	134989538	134989538	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:134989538T>G	ENST00000370709.3	+	8	944	c.944T>G	c.(943-945)gTa>gGa	p.V315G	SAGE1_ENST00000535938.1_Missense_Mutation_p.V315G|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.V315G			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	315						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCTAATAACGTATTGTCAACT	0.408																																						uc004ezh.3																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(943-945)gTa>gGa		Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.							175.0	143.0	154.0					X																	134989538		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134989538T>G	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.944T>G	X.37:g.134989538T>G	ENSP00000359743:p.Val315Gly					SAGE1_uc010nry.1_Missense_Mutation_p.V284G|SAGE1_uc011mvv.2_Intron	p.V315G	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			8	1111	+	Acute lymphoblastic leukemia(192;0.000127)		315					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.944T>G	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	T	6.422	0.445999	0.12164	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.36699	1.24;1.24;1.24	1.56	-1.26	0.09376	.	.	.	.	.	T	0.27205	0.0667	L	0.27053	0.805	0.09310	N	1	P	0.48589	0.912	P	0.47744	0.556	T	0.15983	-1.0418	9	0.72032	D	0.01	.	4.2836	0.10844	0.0:0.4602:0.0:0.5398	.	315	Q9NXZ1	SAGE1_HUMAN	G	315	ENSP00000323191:V315G;ENSP00000445959:V315G;ENSP00000359743:V315G	ENSP00000323191:V315G	V	+	2	0	SAGE1	134817204	0.631000	0.27164	0.000000	0.03702	0.000000	0.00434	0.099000	0.15210	-0.414000	0.07495	-1.339000	0.01253	GTA		0.408	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
