#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UBE4B	10277	broad.mit.edu	37	1	10207077	10207077	+	Silent	SNP	G	G	A	rs546274495		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:10207077G>A	ENST00000253251.8	+	18	2972	c.2133G>A	c.(2131-2133)ctG>ctA	p.L711L	UBE4B_ENST00000343090.6_Silent_p.L840L|UBE4B_ENST00000377157.3_Silent_p.L595L					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AGAGCTTCCTGAGAAGATGTC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		18742	0.0		0.0	False		,,,				2504	0.001					uc001aqs.3		NA																	0				ovary(2)|skin(2)	4						c.(2518-2520)CTG>CTA		ubiquitination factor E4B isoform 1							177.0	152.0	161.0					1																	10207077		2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10207077G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2133G>A	1.37:g.10207077G>A						UBE4B_uc001aqr.3_Silent_p.L711L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.L295L|UBE4B_uc001aqt.1_Silent_p.L180L	p.L840L	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	19	3233	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	840						Silent	SNP	ENST00000253251.8	37	c.2520G>A	CCDS110.1																																																																																				0.527	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		17	113	0	0	0	0	17	113				
ZNF436	80818	broad.mit.edu	37	1	23688996	23688996	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:23688996G>A	ENST00000314011.4	-	4	1015	c.879C>T	c.(877-879)ctC>ctT	p.L293L	ZNF436_ENST00000374608.3_Silent_p.L293L	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L293L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGTGTTTGATGAGATCAGATC	0.527																																						uc001bgt.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(877-879)CTC>CTT		zinc finger protein 436							121.0	115.0	117.0					1																	23688996		2203	4300	6503	SO:0001819	synonymous_variant	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23688996G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.879C>T	1.37:g.23688996G>A						ZNF436_uc001bgu.2_Silent_p.L293L	p.L293L	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	3	1260	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	293			C2H2-type 6.		Q658I9	Silent	SNP	ENST00000314011.4	37	c.879C>T	CCDS233.1																																																																																				0.527	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		14	144	0	0	0	0	14	144				
PTPRU	10076	broad.mit.edu	37	1	29644357	29644358	+	Missense_Mutation	DNP	CG	CG	TC	rs377688027		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:29644357_29644358CG>TC	ENST00000345512.3	+	26	3770_3771	c.3641_3642CG>TC	c.(3640-3642)cCG>cTC	p.P1214L	PTPRU_ENST00000373779.3_Missense_Mutation_p.P1204L|PTPRU_ENST00000356870.3_Missense_Mutation_p.P1210L|PTPRU_ENST00000428026.2_Missense_Mutation_p.P1201L|PTPRU_ENST00000460170.2_Missense_Mutation_p.P1210L|PTPRU_ENST00000323874.8_Missense_Mutation_p.P1210L	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1214	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GACGTCCTGCCGCCCGACCGCT	0.629																																						uc001bru.2		NA																	0				large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(3640-3642)CCG>CTC		protein tyrosine phosphatase, receptor type, U																																				SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29644357_29644358CG>TC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	Exception_encountered	1.37:g.29644357_29644358delinsTC	ENSP00000334941:p.Pro1214Leu					PTPRU_uc001brv.2_Missense_Mutation_p.P1210L|PTPRU_uc001brw.2_Missense_Mutation_p.P1204L|PTPRU_uc009vtq.2_Missense_Mutation_p.P1210L|PTPRU_uc009vtr.2_Missense_Mutation_p.P1201L|PTPRU_uc001brx.2_5'Flank	p.P1214L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	26	3751_3752	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1214			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	DNP	ENST00000345512.3	37	c.3641_3642CG>TC	CCDS334.1																																																																																				0.629	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			12	64	0	0	0	0	12	64				
CCDC24	149473	broad.mit.edu	37	1	44461305	44461305	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:44461305C>T	ENST00000372318.3	+	7	756	c.585C>T	c.(583-585)tgC>tgT	p.C195C	CCDC24_ENST00000479055.1_3'UTR|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	195										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGGCCTTGCCACCCCTCTG	0.647																																						uc001clj.2		NA																	0					0						c.(583-585)TGC>TGT		coiled-coil domain containing 24							25.0	27.0	26.0					1																	44461305		2203	4300	6503	SO:0001819	synonymous_variant	149473							g.chr1:44461305C>T		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.585C>T	1.37:g.44461305C>T						SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Silent_p.C150C|CCDC24_uc009vxc.2_Silent_p.C159C	p.C195C	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN			7	756	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	195			Potential.		Q6RWT2	Silent	SNP	ENST00000372318.3	37	c.585C>T	CCDS507.1																																																																																				0.647	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		3	25	0	0	0	0	3	25				
HFM1	164045	broad.mit.edu	37	1	91781517	91781517	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:91781517T>A	ENST00000370425.3	-	28	3093	c.2995A>T	c.(2995-2997)Agt>Tgt	p.S999C	HFM1_ENST00000294696.5_Missense_Mutation_p.S231C|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S678C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	999	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTCGTATCACTATATCTTGTA	0.299																																						uc001doa.3		NA																	0					0						c.(2995-2997)AGT>TGT		HFM1 protein							43.0	44.0	43.0					1																	91781517		2200	4297	6497	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781517T>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2995A>T	1.37:g.91781517T>A	ENSP00000359454:p.Ser999Cys					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S678C|HFM1_uc001dob.3_Missense_Mutation_p.S187C|HFM1_uc010osv.1_Missense_Mutation_p.S683C	p.S999C	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	28	3095	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	999			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2995A>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	9.404	1.078869	0.20227	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.61627	0.09;0.09;0.09	5.25	1.67	0.24075	Sec63 domain (2);	0.461649	0.24016	N	0.042331	T	0.56543	0.1992	M	0.71581	2.175	0.28974	N	0.889037	D;D;D	0.71674	0.996;0.998;0.996	P;D;P	0.65684	0.711;0.937;0.873	T	0.52124	-0.8617	10	0.66056	D	0.02	.	8.0685	0.30676	0.0:0.2501:0.0:0.7499	.	678;210;999	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	C	999;231;678;683	ENSP00000359454:S999C;ENSP00000294696:S231C;ENSP00000359453:S678C	ENSP00000294696:S231C	S	-	1	0	HFM1	91554105	0.684000	0.27642	0.759000	0.31340	0.043000	0.13939	1.158000	0.31737	0.324000	0.23333	0.377000	0.23210	AGT		0.299	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		10	48	0	0	0	0	10	48				
GLMN	11146	broad.mit.edu	37	1	92713516	92713516	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:92713516C>T	ENST00000370360.3	-	17	1585	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	GLMN_ENST00000534881.1_Missense_Mutation_p.E488K	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	502					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		AAATTATTCTCAATATTTCCA	0.299									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2		NA																	0				skin(1)	1						c.(1504-1506)GAG>AAG		glomulin							94.0	99.0	97.0					1																	92713516		2202	4290	6492	SO:0001583	missense	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92713516C>T	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1504G>A	1.37:g.92713516C>T	ENSP00000359385:p.Glu502Lys					GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.E488K	p.E502K	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	17	1619	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	502					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.1504G>A	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961052	0.53400	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.48836	0.8;0.8	6.17	4.31	0.51392	.	0.089414	0.85682	D	0.000000	T	0.40145	0.1105	M	0.68952	2.095	0.52501	D	0.99995	P;B	0.36110	0.537;0.338	B;B	0.43701	0.428;0.19	T	0.44390	-0.9331	10	0.72032	D	0.01	-6.5765	11.4403	0.50092	0.0:0.7004:0.2363:0.0633	.	488;502	B4DJ85;Q92990	.;GLMN_HUMAN	K	502;488	ENSP00000359385:E502K;ENSP00000440156:E488K	ENSP00000359385:E502K	E	-	1	0	GLMN	92486104	1.000000	0.71417	0.993000	0.49108	0.784000	0.44337	1.585000	0.36600	0.937000	0.37394	0.655000	0.94253	GAG		0.299	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		9	142	0	0	0	0	9	142				
PLPPR4	9890	broad.mit.edu	37	1	99764696	99764696	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:99764696A>G	ENST00000370185.3	+	4	1141	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	LPPR4_ENST00000457765.1_Missense_Mutation_p.Y215C|LPPR4_ENST00000370184.1_Missense_Mutation_p.Y57C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		215					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAACCAAACTATACCTCTCTG	0.393																																						uc001dse.2		NA																	0				ovary(3)	3						c.(643-645)TAT>TGT		plasticity related gene 1							138.0	132.0	134.0					1																	99764696		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99764696A>G																												ENST00000370185.3:c.644A>G	1.37:g.99764696A>G	ENSP00000359204:p.Tyr215Cys					LPPR4_uc010oue.1_Missense_Mutation_p.Y215C	p.Y215C	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	4	750	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	215					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.644A>G	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398217	0.83120	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.51071	0.72;0.72;0.72	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.979;0.997	T	0.62690	-0.6801	10	0.87932	D	0	-19.8279	15.7585	0.78058	1.0:0.0:0.0:0.0	.	215;215	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	C	215;215;215;57	ENSP00000359204:Y215C;ENSP00000394913:Y215C;ENSP00000359203:Y57C	ENSP00000263178:Y215C	Y	+	2	0	RP4-788L13.1	99537284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.191000	0.70037	0.528000	0.53228	TAT		0.393	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			8	94	0	0	0	0	8	94				
CGN	57530	broad.mit.edu	37	1	151503155	151503155	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151503155G>A	ENST00000271636.7	+	13	2637	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	829	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.R835L(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGCTCCGGCGAGGCAAGGCT	0.652																																						uc009wmw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2503-2505)CGA>CAA		cingulin							26.0	17.0	20.0					1																	151503155		2181	4271	6452	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151503155G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2504G>A	1.37:g.151503155G>A	ENSP00000271636:p.Arg835Gln						p.R835Q	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		13	2648	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		829			Glu-rich.|Potential.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.2504G>A	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198193	0.38806	.	.	ENSG00000143375	ENST00000271636	D	0.83591	-1.74	4.99	3.1	0.35709	Myosin tail (1);	0.307703	0.34156	N	0.004216	T	0.64371	0.2592	L	0.50333	1.59	0.09310	N	1	B	0.29671	0.254	B	0.32090	0.14	T	0.60281	-0.7294	10	0.66056	D	0.02	-11.8941	8.232	0.31603	0.2506:0.0:0.7494:0.0	.	829	Q9P2M7	CING_HUMAN	Q	835	ENSP00000271636:R835Q	ENSP00000271636:R835Q	R	+	2	0	CGN	149769779	0.002000	0.14202	0.003000	0.11579	0.654000	0.38779	1.433000	0.34947	0.670000	0.31165	0.557000	0.71058	CGA		0.652	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		2	5	0	0	0	0	2	5				
LINGO4	339398	broad.mit.edu	37	1	151774631	151774631	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151774631T>A	ENST00000368820.3	-	2	1487	c.550A>T	c.(550-552)Acc>Tcc	p.T184S		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	184						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGTGAGGGTGCTCAACTTG	0.607																																						uc001ezf.1		NA																	0				large_intestine(1)	1						c.(550-552)ACC>TCC		leucine rich repeat and Ig domain containing 4							38.0	43.0	41.0					1																	151774631		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774631T>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.550A>T	1.37:g.151774631T>A	ENSP00000357810:p.Thr184Ser						p.T184S	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	740	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		184			Extracellular (Potential).|LRR 6.			Missense_Mutation	SNP	ENST00000368820.3	37	c.550A>T	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	T	8.098	0.776071	0.16051	.	.	ENSG00000213171	ENST00000368820	T	0.56611	0.45	5.13	-5.13	0.02884	.	0.738613	0.12093	N	0.500242	T	0.06280	0.0162	N	0.05592	-0.015	0.25717	N	0.98542	B	0.06786	0.001	B	0.12156	0.007	T	0.29427	-1.0012	10	0.06625	T	0.88	.	4.9133	0.13833	0.2324:0.3614:0.0:0.4062	.	184	Q6UY18	LIGO4_HUMAN	S	184	ENSP00000357810:T184S	ENSP00000357810:T184S	T	-	1	0	LINGO4	150041255	0.649000	0.27322	0.028000	0.17463	0.973000	0.67179	-0.097000	0.11042	-1.233000	0.02551	0.379000	0.24179	ACC		0.607	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		17	88	0	0	0	0	17	88				
FLG2	388698	broad.mit.edu	37	1	152326395	152326395	+	Silent	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:152326395T>C	ENST00000388718.5	-	3	3939	c.3867A>G	c.(3865-3867)tcA>tcG	p.S1289S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1289	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGTGTTCTGAATGTCTGT	0.468																																						uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3865-3867)TCA>TCG		filaggrin family member 2							444.0	396.0	412.0					1																	152326395		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152326395T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3867A>G	1.37:g.152326395T>C						uc001ezv.2_Intron	p.S1289S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3940	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1289			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.3867A>G	CCDS30861.1																																																																																				0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		51	314	0	0	0	0	51	314				
OR6K6	128371	broad.mit.edu	37	1	158725011	158725011	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:158725011G>A	ENST00000368144.2	+	1	502	c.406G>A	c.(406-408)Ggt>Agt	p.G136S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCACTCACTTGGTATCACAGA	0.493																																						uc001fsw.1		NA																	0				skin(1)	1						c.(406-408)GGT>AGT		olfactory receptor, family 6, subfamily K,							78.0	74.0	75.0					1																	158725011		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725011G>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.406G>A	1.37:g.158725011G>A	ENSP00000357126:p.Gly136Ser						p.G136S	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	406	+	all_hematologic(112;0.0378)		136			Helical; Name=3; (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.406G>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070854	0.55539	.	.	ENSG00000180433	ENST00000368144	T	0.01323	5.01	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000406	T	0.02304	0.0071	M	0.78637	2.42	0.09310	N	1	D	0.61080	0.989	P	0.53401	0.725	T	0.38457	-0.9660	10	0.46703	T	0.11	-11.0277	11.6477	0.51271	0.0815:0.0:0.9185:0.0	.	136	Q8NGW6	OR6K6_HUMAN	S	136	ENSP00000357126:G136S	ENSP00000357126:G136S	G	+	1	0	OR6K6	156991635	0.000000	0.05858	0.399000	0.26333	0.677000	0.39632	0.612000	0.24283	2.848000	0.98002	0.655000	0.94253	GGT		0.493	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		5	115	0	0	0	0	5	115				
CACNA1S	779	broad.mit.edu	37	1	201044689	201044689	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:201044689C>T	ENST00000362061.3	-	13	2108	c.1882G>A	c.(1882-1884)Ggc>Agc	p.G628S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G628S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	628				G -> R (in Ref. 2; AAB37235). {ECO:0000305}.|YG -> SS (in Ref. 1; AAA51902). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GACGGCCCGCCGTAGGCCATG	0.547																																						uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1882-1884)GGC>AGC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						202.0	182.0	189.0					1																	201044689		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201044689C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1882G>A	1.37:g.201044689C>T	ENSP00000355192:p.Gly628Ser						p.G628S	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			13	2109	-			628	YG -> SS (in Ref. 1; AAA51902).|G -> R (in Ref. 2; AAB37235).		II.|Extracellular (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1882G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883441	0.91740	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96651	-4.08;-3.97	4.45	4.45	0.53987	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97657	0.9232	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.98505	1.0616	10	0.66056	D	0.02	.	17.4652	0.87630	0.0:1.0:0.0:0.0	.	628	Q13698	CAC1S_HUMAN	S	628	ENSP00000355192:G628S;ENSP00000356307:G628S	ENSP00000355192:G628S	G	-	1	0	CACNA1S	199311312	1.000000	0.71417	0.970000	0.41538	0.775000	0.43874	6.004000	0.70709	2.194000	0.70268	0.643000	0.83706	GGC		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		17	190	0	0	0	0	17	190				
GPATCH2	55105	broad.mit.edu	37	1	217793361	217793361	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:217793361C>T	ENST00000366935.3	-	2	647	c.537G>A	c.(535-537)cgG>cgA	p.R179R	GPATCH2_ENST00000366934.3_Silent_p.R179R	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	179					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GGGTCATTGTCCGTTTGTTAG	0.448																																						uc001hlf.1		NA																	0				ovary(1)	1						c.(535-537)CGG>CGA		G patch domain containing 2							222.0	204.0	210.0					1																	217793361		2203	4300	6503	SO:0001819	synonymous_variant	55105					intracellular	nucleic acid binding	g.chr1:217793361C>T	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.537G>A	1.37:g.217793361C>T						GPATCH2_uc001hlg.3_Silent_p.R179R	p.R179R	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	2	633	-			179					Q5VYK7|Q5VYK8|Q86YE7	Silent	SNP	ENST00000366935.3	37	c.537G>A	CCDS1518.1																																																																																				0.448	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		28	186	0	0	0	0	28	186				
PSEN2	5664	broad.mit.edu	37	1	227069674	227069674	+	Silent	SNP	G	G	A	rs367645069		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:227069674G>A	ENST00000366783.3	+	4	502	c.66G>A	c.(64-66)tcG>tcA	p.S22S	PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000340188.4_Silent_p.S22S|PSEN2_ENST00000366782.1_Silent_p.S55S|PSEN2_ENST00000391872.2_Silent_p.S55S|PSEN2_ENST00000422240.2_Silent_p.S22S	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	22					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CCCTAATGTCGGCTGAGAGCC	0.627																																						uc009xeo.1		NA																	0				lung(2)	2						c.(64-66)TCG>TCA		presenilin 2 isoform 1		G	,	0,4406		0,0,2203	71.0	66.0	68.0		66,66	-10.8	0.3	1		68	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	PSEN2	NM_000447.2,NM_012486.2	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	22/449,22/448	227069674	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227069674G>A	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.66G>A	1.37:g.227069674G>A						PSEN2_uc009xep.1_Silent_p.S22S|PSEN2_uc001hqk.2_RNA	p.S22S	NM_000447	NP_000438	P49810	PSN2_HUMAN			4	493	+		Prostate(94;0.0771)	22			Cytoplasmic (Potential).		A8K8D4|B1AP21|Q96P32	Silent	SNP	ENST00000366783.3	37	c.66G>A	CCDS1556.1																																																																																				0.627	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		13	73	0	0	0	0	13	73				
ACTN2	88	broad.mit.edu	37	1	236902717	236902717	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:236902717A>G	ENST00000366578.4	+	10	1158	c.992A>G	c.(991-993)aAg>aGg	p.K331R	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.K331R|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	331					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGGAAGCACAAGCCACCCAAG	0.597																																						uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(991-993)AAG>AGG		actinin, alpha 2							136.0	115.0	122.0					1																	236902717		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236902717A>G	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.992A>G	1.37:g.236902717A>G	ENSP00000355537:p.Lys331Arg					ACTN2_uc001hyg.2_Missense_Mutation_p.K123R|ACTN2_uc009xgi.1_Missense_Mutation_p.K331R|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.K19R	p.K331R	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		10	1196	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	331			Spectrin 1.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.992A>G	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.031725	0.93575	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.52057	0.68;0.68	5.51	5.51	0.81932	.	0.091269	0.85682	D	0.000000	T	0.72985	0.3529	M	0.87097	2.86	0.80722	D	1	D;D;D	0.65815	0.994;0.972;0.995	D;D;D	0.91635	0.979;0.976;0.999	T	0.77882	-0.2422	10	0.59425	D	0.04	.	15.6112	0.76721	1.0:0.0:0.0:0.0	.	331;101;331	B2RCS5;Q59FD9;P35609	.;.;ACTN2_HUMAN	R	331;331;100	ENSP00000443495:K331R;ENSP00000355537:K331R	ENSP00000355537:K331R	K	+	2	0	ACTN2	234969340	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.293000	0.96082	2.089000	0.63090	0.454000	0.30748	AAG		0.597	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		9	69	0	0	0	0	9	69				
HNRNPU	3192	broad.mit.edu	37	1	245019776	245019776	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:245019776G>A	ENST00000283179.9	-	10	2058	c.1895C>T	c.(1894-1896)gCg>gTg	p.A632V	HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.A613V			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	632					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTGAGGACCGCATGTTCTGG	0.368																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1		NA																	0					0						c.(1894-1896)GCG>GTG		heterogeneous nuclear ribonucleoprotein U							190.0	193.0	192.0					1																	245019776		2202	4300	6502	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245019776G>A	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1895C>T	1.37:g.245019776G>A	ENSP00000283179:p.Ala632Val					HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.A356V|HNRNPU_uc001iba.1_Missense_Mutation_p.A613V|HNRNPU_uc001ibb.1_Missense_Mutation_p.A320V	p.A632V	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		10	2113	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		632					O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1895C>T	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692767	0.88735	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.42131	0.98;0.98	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.55017	1.72	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;1.0;1.0	D;D;D;D	0.79784	0.992;0.928;0.981;0.993	T	0.59311	-0.7478	10	0.49607	T	0.09	-11.0393	20.0349	0.97554	0.0:0.0:1.0:0.0	.	557;613;632;356	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	V	613;632;557	ENSP00000393151:A613V;ENSP00000283179:A632V	ENSP00000283179:A632V	A	-	2	0	HNRNPU	243086399	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	9.808000	0.99193	2.744000	0.94065	0.650000	0.86243	GCG		0.368	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		4	210	0	0	0	0	4	210				
GPR158	57512	broad.mit.edu	37	10	25887454	25887454	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:25887454C>A	ENST00000376351.3	+	11	3258	c.2899C>A	c.(2899-2901)Cca>Aca	p.P967T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	967					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGCGGAGGAGCCAAGAAAGCC	0.458																																						uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2899-2901)CCA>ACA		G protein-coupled receptor 158 precursor							76.0	85.0	82.0					10																	25887454		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887454C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2899C>A	10.37:g.25887454C>A	ENSP00000365529:p.Pro967Thr					GPR158_uc001isk.2_Missense_Mutation_p.P342T	p.P967T	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2959	+			967			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2899C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	0.288	-0.981725	0.02197	.	.	ENSG00000151025	ENST00000376351	T	0.32272	1.46	5.61	2.75	0.32379	.	0.568131	0.16868	N	0.196260	T	0.13243	0.0321	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25082	-1.0142	10	0.14656	T	0.56	.	0.7637	0.01011	0.2331:0.3213:0.2345:0.211	.	967	Q5T848	GP158_HUMAN	T	967	ENSP00000365529:P967T	ENSP00000365529:P967T	P	+	1	0	GPR158	25927460	0.762000	0.28451	0.981000	0.43875	0.853000	0.48598	0.063000	0.14410	0.309000	0.22966	0.650000	0.86243	CCA		0.458	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		7	152	1	0	8.13e-05	9.15e-05	7	152				
POLL	27343	broad.mit.edu	37	10	103345697	103345697	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:103345697T>C	ENST00000370162.3	-	3	826	c.332A>G	c.(331-333)aAg>aGg	p.K111R	POLL_ENST00000339310.3_Intron|POLL_ENST00000370168.3_5'Flank|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.K111R|POLL_ENST00000370158.3_Intron|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000436284.2_Missense_Mutation_p.K23R|POLL_ENST00000370172.1_Missense_Mutation_p.K23R|POLL_ENST00000456836.2_Intron|DPCD_ENST00000370147.1_5'Flank|DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000299206.4_Missense_Mutation_p.K111R	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	111	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCAGGCTGACTTCACCAGCTG	0.577								DNA polymerases (catalytic subunits)																														uc001ktg.1		NA																	0					0						c.(331-333)AAG>AGG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda							44.0	42.0	43.0					10																	103345697		2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103345697T>C	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.332A>G	10.37:g.103345697T>C	ENSP00000359181:p.Lys111Arg					DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Missense_Mutation_p.K111R|POLL_uc001ktj.1_Missense_Mutation_p.K111R|POLL_uc001ktf.2_Missense_Mutation_p.K111R|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Missense_Mutation_p.K111R|POLL_uc001ktl.2_Missense_Mutation_p.K23R|POLL_uc010qqc.1_5'UTR|POLL_uc010qqd.1_Missense_Mutation_p.K23R|DPCD_uc001ktn.2_5'Flank	p.K111R	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	2	1098	-		Colorectal(252;0.234)	111			BRCT.		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.332A>G	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805475	0.50315	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370172;ENST00000370162;ENST00000370157;ENST00000370164;ENST00000415897;ENST00000436284;ENST00000426919;ENST00000454524;ENST00000413344;ENST00000430045	T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;2.52;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.33	4.19	0.49359	BRCT (2);	0.046975	0.85682	N	0.000000	T	0.70211	0.3198	L	0.58669	1.825	0.58432	D	0.999993	P;D;B	0.89917	0.736;1.0;0.041	B;D;B	0.85130	0.275;0.997;0.024	T	0.70941	-0.4735	10	0.66056	D	0.02	-0.0351	10.9502	0.47325	0.0:0.0737:0.0:0.9263	.	23;111;111	B7Z1M4;Q9UGP5;A8K860	.;DPOLL_HUMAN;.	R	111;111;111;23;111;111;23;111;23;122;23;111;111	ENSP00000299206:K111R;ENSP00000359188:K111R;ENSP00000359191:K23R;ENSP00000359181:K111R;ENSP00000400676:K111R;ENSP00000405331:K23R;ENSP00000411678:K122R;ENSP00000390093:K23R;ENSP00000400517:K111R;ENSP00000414293:K111R	ENSP00000299206:K111R	K	-	2	0	POLL	103335687	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.659000	0.61504	0.871000	0.35750	0.459000	0.35465	AAG		0.577	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		12	45	0	0	0	0	12	45				
PSD	5662	broad.mit.edu	37	10	104176509	104176509	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:104176509G>A	ENST00000020673.5	-	2	813	c.287C>T	c.(286-288)gCc>gTc	p.A96V	PSD_ENST00000406432.1_Missense_Mutation_p.A96V|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	96	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGAGCTCTGGGCCCCGGGTGG	0.657																																						uc001kvg.1		NA																	0				breast(2)|urinary_tract(1)	3						c.(286-288)GCC>GTC		pleckstrin and Sec7 domain containing							31.0	41.0	37.0					10																	104176509		2199	4294	6493	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176509G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.287C>T	10.37:g.104176509G>A	ENSP00000020673:p.Ala96Val					PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.A96V|PSD_uc001kvi.1_Missense_Mutation_p.A96V|FBXL15_uc001kvj.1_5'Flank	p.A96V	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	814	-			96			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.287C>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597790	0.46318	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.20332	2.08;2.08	4.36	3.43	0.39272	.	0.339774	0.22758	N	0.055985	T	0.11707	0.0285	N	0.08118	0	0.25647	N	0.986131	B	0.20052	0.041	B	0.19391	0.025	T	0.21415	-1.0246	10	0.46703	T	0.11	.	12.4125	0.55476	0.0:0.4019:0.5981:0.0	.	96	A5PKW4	PSD1_HUMAN	V	96	ENSP00000020673:A96V;ENSP00000384830:A96V	ENSP00000020673:A96V	A	-	2	0	PSD	104166499	0.999000	0.42202	0.995000	0.50966	0.990000	0.78478	4.443000	0.59994	1.125000	0.41998	0.561000	0.74099	GCC		0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			6	85	0	0	0	0	6	85				
CFAP58	159686	broad.mit.edu	37	10	106153149	106153149	+	Silent	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr10:106153149A>G	ENST00000369704.3	+	11	1724	c.1590A>G	c.(1588-1590)aaA>aaG	p.K530K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		530						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAGCTGAAAGAAGACATCT	0.383																																						uc001kyh.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1588-1590)AAA>AAG		coiled-coil domain containing 147							72.0	71.0	71.0					10																	106153149		2203	4300	6503	SO:0001819	synonymous_variant	159686							g.chr10:106153149A>G																												ENST00000369704.3:c.1590A>G	10.37:g.106153149A>G							p.K530K	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	11	1724	+		Colorectal(252;0.103)|Breast(234;0.122)	530			Potential.		D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	c.1590A>G	CCDS31282.1																																																																																				0.383	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			4	52	0	0	0	0	4	52				
OR52A5	390054	broad.mit.edu	37	11	5153039	5153039	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:5153039G>A	ENST00000307388.1	-	1	833	c.834C>T	c.(832-834)ctC>ctT	p.L278L		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	278					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATTTGACAAGAGGATATGAA	0.398																																						uc010qyx.1		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(832-834)CTC>CTT		olfactory receptor, family 52, subfamily A,							155.0	148.0	150.0					11																	5153039		2201	4298	6499	SO:0001819	synonymous_variant	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153039G>A	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.834C>T	11.37:g.5153039G>A							p.L278L	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	834	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	278			Helical; Name=7; (Potential).			Silent	SNP	ENST00000307388.1	37	c.834C>T	CCDS31373.1																																																																																				0.398	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		20	97	0	0	0	0	20	97				
OR2D2	120776	broad.mit.edu	37	11	6913385	6913385	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:6913385G>A	ENST00000299459.2	-	1	445	c.347C>T	c.(346-348)gCa>gTa	p.A116V		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	116					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGACATCACTGCAAGAAGGGC	0.488																																						uc010rau.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(346-348)GCA>GTA		olfactory receptor, family 2, subfamily D,							124.0	100.0	108.0					11																	6913385		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913385G>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.347C>T	11.37:g.6913385G>A	ENSP00000299459:p.Ala116Val						p.A116V	NM_003700	NP_003691	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	347	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	116			Helical; Name=3; (Potential).		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.347C>T	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.372810	0.42105	.	.	ENSG00000166368	ENST00000299459	T	0.02015	4.5	5.23	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.136558	0.33515	N	0.004837	T	0.05868	0.0153	M	0.62088	1.915	0.25581	N	0.986792	P	0.52577	0.954	P	0.50136	0.632	T	0.20107	-1.0285	10	0.36615	T	0.2	-7.0164	13.3397	0.60538	0.0:0.0:0.8411:0.1589	.	116	Q9H210	OR2D2_HUMAN	V	116	ENSP00000299459:A116V	ENSP00000299459:A116V	A	-	2	0	OR2D2	6869961	0.020000	0.18652	0.997000	0.53966	0.929000	0.56500	1.901000	0.39838	1.573000	0.49748	0.645000	0.84053	GCA		0.488	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		14	89	0	0	0	0	14	89				
ST5	6764	broad.mit.edu	37	11	8752204	8752204	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:8752204C>T	ENST00000534127.1	-	6	1018	c.633G>A	c.(631-633)ccG>ccA	p.P211P	ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Silent_p.P211P|ST5_ENST00000313726.6_Silent_p.P211P|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	211					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGCAGGGGGACGGCACCACGC	0.642																																						uc001mgt.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(631-633)CCG>CCA		suppression of tumorigenicity 5 isoform 1							16.0	17.0	17.0					11																	8752204		2182	4269	6451	SO:0001819	synonymous_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752204C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.633G>A	11.37:g.8752204C>T						ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Silent_p.P211P|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Silent_p.P211P	p.P211P	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	3	819	-			211					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	c.633G>A	CCDS7791.1																																																																																				0.642	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		3	25	0	0	0	0	3	25				
MICAL2	9645	broad.mit.edu	37	11	12229646	12229646	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:12229646C>T	ENST00000256194.4	+	5	837	c.549C>T	c.(547-549)ttC>ttT	p.F183F	MICAL2_ENST00000537344.1_Silent_p.F183F|MICAL2_ENST00000527546.1_Silent_p.F183F|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000379612.3_Silent_p.F183F|MICAL2_ENST00000342902.5_Silent_p.F183F	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	183	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATGTGGAGTTCGTGAAGGTTC	0.423																																						uc001mjz.2		NA																	0				upper_aerodigestive_tract(2)	2						c.(547-549)TTC>TTT		microtubule associated monoxygenase, calponin							203.0	181.0	189.0					11																	12229646		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12229646C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.549C>T	11.37:g.12229646C>T						MICAL2_uc010rch.1_Silent_p.F183F|MICAL2_uc001mjy.2_Silent_p.F183F|MICAL2_uc001mka.2_Silent_p.F183F|MICAL2_uc010rci.1_Silent_p.F183F|MICAL2_uc001mkb.2_Silent_p.F183F|MICAL2_uc001mkc.2_Silent_p.F183F|MICAL2_uc001mkd.2_Silent_p.F12F	p.F183F	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	5	837	+			183					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.549C>T	CCDS7809.1																																																																																				0.423	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		21	174	0	0	0	0	21	174				
DGKZ	8525	broad.mit.edu	37	11	46397933	46397933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:46397933G>A	ENST00000454345.1	+	24	2836	c.2711G>A	c.(2710-2712)tGg>tAg	p.W904*	MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.W732*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.W693*|DGKZ_ENST00000543978.1_Nonsense_Mutation_p.W68*|DGKZ_ENST00000532868.2_Nonsense_Mutation_p.W720*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.W716*|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.W715*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.W682*|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.W494*|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.W716*	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	904					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCCCCCAAGTGGTGCTTCCTG	0.622																																						uc001ncn.1		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(2710-2712)TGG>TAG		diacylglycerol kinase zeta isoform 4							142.0	152.0	149.0					11																	46397933		2202	4299	6501	SO:0001587	stop_gained	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46397933G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2711G>A	11.37:g.46397933G>A	ENSP00000412178:p.Trp904*					DGKZ_uc001nch.1_Nonsense_Mutation_p.W732*|DGKZ_uc010rgq.1_Nonsense_Mutation_p.W659*|DGKZ_uc001ncj.1_Nonsense_Mutation_p.W682*|DGKZ_uc010rgr.1_Nonsense_Mutation_p.W681*|DGKZ_uc001nck.1_Nonsense_Mutation_p.W494*|DGKZ_uc001ncl.2_Nonsense_Mutation_p.W716*|DGKZ_uc001ncm.2_Nonsense_Mutation_p.W715*|DGKZ_uc009yky.1_Nonsense_Mutation_p.W716*|DGKZ_uc010rgs.1_Nonsense_Mutation_p.W693*	p.W904*	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	24	2836	+			904					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Nonsense_Mutation	SNP	ENST00000454345.1	37	c.2711G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	39	7.399743	0.98258	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	.	.	.	4.15	4.15	0.48705	.	0.276301	0.40385	N	0.001105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9914	0.86354	0.0:0.0:1.0:0.0	.	.	.	.	X	732;494;682;681;68;716;715;716;693;904	.	ENSP00000320340:W693X	W	+	2	0	DGKZ	46354509	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.241000	0.78201	2.326000	0.78906	0.393000	0.25936	TGG		0.622	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		39	197	0	0	0	0	39	197				
OR8J1	219477	broad.mit.edu	37	11	56128372	56128372	+	Missense_Mutation	SNP	C	C	A	rs199725360		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:56128372C>A	ENST00000303039.3	+	1	682	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTTCTAGTATCTTATTTCAAT	0.328																																						uc010rjh.1		NA																	0				ovary(2)	2						c.(649-651)TCT>TAT		olfactory receptor, family 8, subfamily J,							134.0	127.0	129.0					11																	56128372		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128372C>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.650C>A	11.37:g.56128372C>A	ENSP00000304060:p.Ser217Tyr						p.S217Y	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	650	+	Esophageal squamous(21;0.00448)		217			Helical; Name=5; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.650C>A	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874770	0.33069	.	.	ENSG00000172487	ENST00000303039	T	0.46063	0.88	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.75280	0.3828	H	0.96691	3.865	0.09310	N	1	D	0.65815	0.995	D	0.74023	0.982	T	0.73304	-0.4025	10	0.87932	D	0	.	16.0211	0.80493	0.0:1.0:0.0:0.0	.	217	Q8NGP2	OR8J1_HUMAN	Y	217	ENSP00000304060:S217Y	ENSP00000304060:S217Y	S	+	2	0	OR8J1	55884948	0.947000	0.32204	0.982000	0.44146	0.487000	0.33371	4.066000	0.57520	2.180000	0.69256	0.542000	0.68232	TCT		0.328	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		15	118	1	0	4.75e-09	5.57e-09	15	118				
RPS6KA4	8986	broad.mit.edu	37	11	64129153	64129153	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:64129153C>A	ENST00000334205.4	+	7	756	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.L231M|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.L231M	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	231	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GCTCTTCGAGCTGCTGACGGG	0.687																																						uc001oae.2		NA																	0				lung(3)|ovary(1)|breast(1)	5						c.(691-693)CTG>ATG		ribosomal protein S6 kinase, 90kDa, polypeptide							20.0	22.0	21.0					11																	64129153		2199	4294	6493	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64129153C>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.691C>A	11.37:g.64129153C>A	ENSP00000333896:p.Leu231Met					RPS6KA4_uc001oad.2_Missense_Mutation_p.L231M|RPS6KA4_uc010rnl.1_Missense_Mutation_p.L168M|RPS6KA4_uc001oaf.2_Missense_Mutation_p.L231M|RPS6KA4_uc009ypp.2_Missense_Mutation_p.L231M	p.L231M	NM_003942	NP_003933	O75676	KS6A4_HUMAN			7	774	+			231			Protein kinase 1.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.691C>A	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	N	0.206	-1.040372	0.02013	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	3.96	3.03	0.35002	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	D	0.000017	T	0.22244	0.0536	N	0.05280	-0.08	0.42388	D	0.992513	B;D;D;D	0.76494	0.035;0.977;0.999;0.999	B;D;D;D	0.77557	0.047;0.917;0.99;0.983	T	0.43877	-0.9364	10	0.02654	T	1	.	4.9151	0.13842	0.2129:0.6772:0.0:0.1099	.	231;231;231;231	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	M	231;231;231;215	ENSP00000435580:L231M;ENSP00000333896:L231M;ENSP00000294261:L231M;ENSP00000432945:L215M	ENSP00000294261:L231M	L	+	1	2	RPS6KA4	63885729	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	2.560000	0.45896	0.990000	0.38787	0.511000	0.50034	CTG		0.687	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		5	90	1	0	0.00116845	0.00127068	5	90				
SPTBN2	6712	broad.mit.edu	37	11	66473195	66473195	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:66473195G>A	ENST00000533211.1	-	14	2098	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A	SPTBN2_ENST00000529997.1_Silent_p.A589A|SPTBN2_ENST00000309996.2_Silent_p.A589A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	589					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGGCGCTGACGGCCCGCACCC	0.662																																						uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1765-1767)GCC>GCT		spectrin, beta, non-erythrocytic 2							23.0	22.0	23.0					11																	66473195		2195	4287	6482	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66473195G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1767C>T	11.37:g.66473195G>A							p.A589A	NM_006946	NP_008877	O15020	SPTN2_HUMAN			13	1839	-			589			Spectrin 3.		O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.1767C>T	CCDS8150.1																																																																																				0.662	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	31	0	0	0	0	5	31				
CLPB	81570	broad.mit.edu	37	11	72040797	72040797	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:72040797G>A	ENST00000294053.3	-	7	1090	c.917C>T	c.(916-918)gCc>gTc	p.A306V	CLPB_ENST00000538039.1_Missense_Mutation_p.A276V|CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V|CLPB_ENST00000543042.1_Missense_Mutation_p.A105V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	306					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCCTTCTCGGGCATAATCCAA	0.512																																						uc001osj.2		NA																	0				pancreas(1)	1						c.(916-918)GCC>GTC		caseinolytic peptidase B							101.0	97.0	98.0					11																	72040797		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72040797G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.917C>T	11.37:g.72040797G>A	ENSP00000294053:p.Ala306Val					CLPB_uc010rqx.1_Missense_Mutation_p.A261V|CLPB_uc010rqy.1_Missense_Mutation_p.A247V|CLPB_uc001osk.2_Missense_Mutation_p.A276V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A105V	p.A306V	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			7	967	-			306			ANK 4.		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.917C>T	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.88|14.88	2.668689|2.668689	0.47677|0.47677	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683|ENST00000544382	T;D;T;D;T;T;D|.	0.81739|.	0.5;-1.53;-0.77;-1.53;-0.77;-0.77;-1.53|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69441|0.69441	0.3111|0.3111	L|L	0.52011|0.52011	1.625|1.625	0.46279|0.46279	D|D	0.998968|0.998968	B;P;P;P;D|.	0.67145|.	0.248;0.708;0.875;0.708;0.996|.	B;B;P;B;D|.	0.66847|.	0.112;0.227;0.46;0.227;0.947|.	T|T	0.66348|0.66348	-0.5946|-0.5946	10|5	0.21540|.	T|.	0.41|.	-14.3764|-14.3764	17.6563|17.6563	0.88179|0.88179	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	105;247;261;276;306|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078|.	.;.;.;.;CLPB_HUMAN|.	V|S	306;276;311;247;261;105;130|84	ENSP00000294053:A306V;ENSP00000441518:A276V;ENSP00000443822:A311V;ENSP00000340385:A247V;ENSP00000407296:A261V;ENSP00000439746:A105V;ENSP00000442651:A130V|.	ENSP00000294053:A306V|.	A|P	-|-	2|1	0|0	CLPB|CLPB	71718445|71718445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.228000|0.228000	0.25075|0.25075	7.379000|7.379000	0.79691|0.79691	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.512	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		3	87	0	0	0	0	3	87				
POLD3	10714	broad.mit.edu	37	11	74329716	74329716	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:74329716G>A	ENST00000263681.2	+	6	656	c.527G>A	c.(526-528)gGt>gAt	p.G176D	POLD3_ENST00000532497.1_Missense_Mutation_p.G70D|POLD3_ENST00000527458.1_Missense_Mutation_p.G137D	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	176					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACCACCAATGGTCATGGCCCA	0.483																																						uc001ovf.1		NA																	0				kidney(2)|ovary(1)	3						c.(526-528)GGT>GAT		DNA-directed DNA polymerase delta 3							100.0	93.0	96.0					11																	74329716		2200	4293	6493	SO:0001583	missense	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74329716G>A	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.527G>A	11.37:g.74329716G>A	ENSP00000263681:p.Gly176Asp					POLD3_uc009yua.1_Missense_Mutation_p.G70D	p.G176D	NM_006591	NP_006582	Q15054	DPOD3_HUMAN			6	602	+	Breast(11;3.21e-06)		176					B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	ENST00000263681.2	37	c.527G>A	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744969	0.69418	.	.	ENSG00000077514	ENST00000263681;ENST00000527458;ENST00000532497;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	5.27	4.35	0.52113	.	0.118400	0.56097	D	0.000024	T	0.77157	0.4089	M	0.74258	2.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.78357	-0.2235	8	.	.	.	-5.4266	12.9904	0.58616	0.0:0.0:0.8372:0.1628	.	176	Q15054	DPOD3_HUMAN	D	176;137;70;176;137;137	.	.	G	+	2	0	POLD3	74007364	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	6.537000	0.73847	1.442000	0.47568	0.467000	0.42956	GGT		0.483	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		19	136	0	0	0	0	19	136				
TMEM123	114908	broad.mit.edu	37	11	102272786	102272786	+	Silent	SNP	G	G	C	rs142725847		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:102272786G>C	ENST00000398136.2	-	3	729	c.309C>G	c.(307-309)gtC>gtG	p.V103V	TMEM123_ENST00000361236.3_Silent_p.V84V|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_Silent_p.V15V	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	103	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TATTTGTTGAGACCATCCCTG	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14404	0.0		0.0	False		,,,				2504	0.0					uc001pha.2		NA																	0				breast(2)	2						c.(307-309)GTC>GTG		transmembrane protein 123 precursor		G		5,4017		0,5,2006	476.0	439.0	451.0		309	3.0	0.0	11	dbSNP_134	451	0,8340		0,0,4170	no	coding-synonymous	TMEM123	NM_052932.2		0,5,6176	CC,CG,GG		0.0,0.1243,0.0404		103/209	102272786	5,12357	2011	4170	6181	SO:0001819	synonymous_variant	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272786G>C	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.309C>G	11.37:g.102272786G>C						TMEM123_uc009yxc.2_Silent_p.V84V	p.V103V	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	3	730	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	103			Thr-rich.|Extracellular (Potential).		Q8IWS2|Q96QV2	Silent	SNP	ENST00000398136.2	37	c.309C>G	CCDS41702.1																																																																																				0.438	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1	NM_052932		28	282	0	0	0	0	28	282				
OPCML	4978	broad.mit.edu	37	11	132290129	132290129	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr11:132290129C>G	ENST00000331898.7	-	7	1574	c.996G>C	c.(994-996)tgG>tgC	p.W332C	OPCML_ENST00000524381.1_Missense_Mutation_p.W325C|OPCML_ENST00000541867.1_Missense_Mutation_p.W341C|OPCML_ENST00000374778.4_Missense_Mutation_p.W291C|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	332					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCCCTGATAGCCAGAGACAAG	0.498																																						uc001qgs.2		NA																	0				ovary(2)|skin(1)	3						c.(994-996)TGG>TGC		opioid binding protein/cell adhesion							123.0	104.0	111.0					11																	132290129		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132290129C>G	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.996G>C	11.37:g.132290129C>G	ENSP00000330862:p.Trp332Cys					OPCML_uc001qgu.2_Missense_Mutation_p.W325C|OPCML_uc010sck.1_Missense_Mutation_p.W341C|OPCML_uc001qgt.2_Missense_Mutation_p.W331C|OPCML_uc010scl.1_Missense_Mutation_p.W291C	p.W332C	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	7	1046	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	332					B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.996G>C	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668039	0.29604	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.62364	0.4;0.37;0.57;0.03	5.34	5.34	0.76211	.	0.545848	0.19661	N	0.108968	T	0.58438	0.2122	L	0.55481	1.735	0.58432	D	0.999997	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.56733	-0.7930	10	0.54805	T	0.06	-2.878	13.7084	0.62654	0.0:0.8456:0.1544:0.0	.	341;325;331;332	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	C	332;325;291;299;341	ENSP00000330862:W332C;ENSP00000434750:W325C;ENSP00000363910:W291C;ENSP00000445496:W341C	ENSP00000330862:W332C	W	-	3	0	OPCML	131795339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.281000	0.51685	2.504000	0.84457	0.563000	0.77884	TGG		0.498	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		4	63	0	0	0	0	4	63				
SCNN1A	6337	broad.mit.edu	37	12	6472662	6472662	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:6472662G>A	ENST00000228916.2	-	3	729	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000396966.2_Missense_Mutation_p.R211W|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R270W|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R211W|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R234W	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	211					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TTGTTGTCCCGCAAGCTGGAG	0.751																																						uc001qnx.2		NA																	0					0						c.(631-633)CGG>TGG		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						12.0	14.0	13.0					12																	6472662		2196	4280	6476	SO:0001583	missense	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6472662G>A	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.631C>T	12.37:g.6472662G>A	ENSP00000228916:p.Arg211Trp					SCNN1A_uc001qnv.2_5'UTR|SCNN1A_uc001qnw.2_Missense_Mutation_p.R270W|SCNN1A_uc010sfb.1_Missense_Mutation_p.R234W	p.R211W	NM_001038	NP_001029	P37088	SCNNA_HUMAN			3	920	-			211			Extracellular (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.631C>T	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030913	0.35797	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.70986	-0.49;-0.53;-0.47;-0.14;-0.48	5.57	2.72	0.32119	.	0.677027	0.12947	N	0.426154	T	0.77538	0.4145	M	0.69823	2.125	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.998	D;P;P	0.63033	0.91;0.873;0.827	T	0.64175	-0.6469	10	0.56958	D	0.05	-1.7091	3.875	0.09053	0.0791:0.1435:0.4814:0.2961	.	234;211;270	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	W	270;211;211;211;234	ENSP00000353292:R270W;ENSP00000351825:R211W;ENSP00000228916:R211W;ENSP00000380166:R211W;ENSP00000438739:R234W	ENSP00000228916:R211W	R	-	1	2	SCNN1A	6342923	0.003000	0.15002	0.013000	0.15412	0.360000	0.29518	0.410000	0.21098	0.283000	0.22279	0.561000	0.74099	CGG		0.751	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			4	25	0	0	0	0	4	25				
CD163	9332	broad.mit.edu	37	12	7640635	7640635	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:7640635C>A	ENST00000359156.4	-	7	1671	c.1469G>T	c.(1468-1470)cGt>cTt	p.R490L	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.R478L|CD163_ENST00000396620.3_Missense_Mutation_p.R490L|CD163_ENST00000432237.2_Missense_Mutation_p.R490L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	490	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R490H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CACTTCAACACGTCCAGAACA	0.478																																						uc001qsz.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1468-1470)CGT>CTT		CD163 antigen isoform a							61.0	52.0	55.0					12																	7640635		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640635C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1469G>T	12.37:g.7640635C>A	ENSP00000352071:p.Arg490Leu					CD163_uc001qta.3_Missense_Mutation_p.R490L|CD163_uc009zfw.2_Missense_Mutation_p.R490L	p.R490L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			7	1597	-			490			SRCR 5.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1469G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167613	0.78339	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.33	5.33	0.75918	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.283835	0.30302	N	0.009934	T	0.61590	0.2359	M	0.74881	2.28	0.51482	D	0.999927	D;D;P	0.89917	0.982;1.0;0.852	P;D;P	0.91635	0.618;0.999;0.533	T	0.64110	-0.6484	10	0.66056	D	0.02	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	490;490;490	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	L	490;478;490;490	ENSP00000352071:R490L;ENSP00000444071:R478L;ENSP00000379863:R490L;ENSP00000403885:R490L	ENSP00000352071:R490L	R	-	2	0	CD163	7531902	0.616000	0.27035	1.000000	0.80357	0.979000	0.70002	3.317000	0.51968	2.663000	0.90544	0.655000	0.94253	CGT		0.478	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		4	33	1	0	0.00024832	0.000274334	4	33				
SLC2A13	114134	broad.mit.edu	37	12	40441956	40441956	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:40441956T>C	ENST00000280871.4	-	2	663	c.613A>G	c.(613-615)Aga>Gga	p.R205G	SLC2A13_ENST00000380858.1_Missense_Mutation_p.R205G	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	205					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AATCGGCCTCTTAAATTGGGT	0.423										HNSCC(50;0.14)																												uc010skm.1		NA																	0				ovary(1)	1						c.(613-615)AGA>GGA		solute carrier family 2 (facilitated glucose							165.0	157.0	160.0					12																	40441956		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40441956T>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.613A>G	12.37:g.40441956T>C	ENSP00000280871:p.Arg205Gly	HNSCC(50;0.14)				SLC2A13_uc001rmf.2_Missense_Mutation_p.R205G	p.R205G	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			2	664	-		Lung NSC(34;0.105)|all_lung(34;0.123)	205			Cytoplasmic (Potential).		Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.613A>G	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435231	0.62955	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	D;D	0.82433	-1.61;-1.61	5.65	1.57	0.23409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.085825	0.85682	D	0.000000	D	0.94430	0.8208	H	0.98918	4.37	0.47511	D	0.999447	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95711	0.8758	10	0.87932	D	0	-20.2866	14.8788	0.70516	0.0:0.0:0.5392:0.4608	.	205;205	Q96QE2;E9PE47	MYCT_HUMAN;.	G	205	ENSP00000280871:R205G;ENSP00000370239:R205G	ENSP00000280871:R205G	R	-	1	2	SLC2A13	38728223	0.009000	0.17119	0.694000	0.30210	0.990000	0.78478	0.026000	0.13599	0.343000	0.23821	0.533000	0.62120	AGA		0.423	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			24	209	0	0	0	0	24	209				
LRRK2	120892	broad.mit.edu	37	12	40645303	40645303	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:40645303T>G	ENST00000298910.7	+	10	1196	c.1138T>G	c.(1138-1140)Tac>Gac	p.Y380D	LRRK2_ENST00000343742.2_Missense_Mutation_p.Y380D	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	380					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTCCTTATGTACCAAAACAG	0.318											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(1138-1140)TAC>GAC		leucine-rich repeat kinase 2							51.0	50.0	50.0					12																	40645303		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40645303T>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1138T>G	12.37:g.40645303T>G	ENSP00000298910:p.Tyr380Asp		OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	895	LRRK2_uc001rmh.1_Missense_Mutation_p.Y2D	p.Y380D	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			10	1259	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	380					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1138T>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006581	0.74932	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.34472	1.36;1.36	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.121970	0.56097	D	0.000026	T	0.49218	0.1544	L	0.54323	1.7	0.43263	D	0.995201	D;D	0.71674	0.998;0.995	P;P	0.62649	0.905;0.881	T	0.39251	-0.9623	10	0.10902	T	0.67	.	14.8525	0.70309	0.0:0.0:0.0:1.0	.	380;380	E9PC85;Q5S007	.;LRRK2_HUMAN	D	380	ENSP00000341930:Y380D;ENSP00000298910:Y380D	ENSP00000298910:Y380D	Y	+	1	0	LRRK2	38931570	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.404000	0.66344	2.152000	0.67230	0.528000	0.53228	TAC		0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	27	0	0	0	0	4	27				
LRP1	4035	broad.mit.edu	37	12	57577638	57577638	+	Missense_Mutation	SNP	G	G	T	rs144804370		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:57577638G>T	ENST00000243077.3	+	36	6341	c.5875G>T	c.(5875-5877)Gtg>Ttg	p.V1959L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1959					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGTGAAGACGTGGTGACCAA	0.612																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(5875-5877)GTG>TTG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	G	LEU/VAL	0,4406		0,0,2203	111.0	100.0	103.0		5875	4.1	1.0	12	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	32	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	1959/4545	57577638	1,13005	2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57577638G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5875G>T	12.37:g.57577638G>T	ENSP00000243077:p.Val1959Leu						p.V1959L	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	36	6341	+			1959			LDL-receptor class B 17.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.5875G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387921	0.61956	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.91351	-2.83	4.94	4.05	0.47172	Six-bladed beta-propeller, TolB-like (1);	0.095786	0.41500	D	0.000874	T	0.81148	0.4762	N	0.22421	0.69	0.80722	D	1	P	0.37370	0.592	B	0.32677	0.15	T	0.77531	-0.2553	10	0.17832	T	0.49	.	12.0488	0.53495	0.0849:0.0:0.915:0.0	.	1959	Q07954	LRP1_HUMAN	L	1959	ENSP00000243077:V1959L	ENSP00000243077:V1959L	V	+	1	0	LRP1	55863905	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.604000	0.67626	1.312000	0.45043	0.561000	0.74099	GTG		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		20	90	1	0	1.34e-09	1.57e-09	20	90				
CCDC63	160762	broad.mit.edu	37	12	111311766	111311766	+	Splice_Site	SNP	G	G	A	rs372717046		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:111311766G>A	ENST00000308208.5	+	5	731		c.e5+1		CCDC63_ENST00000552694.1_Splice_Site|CCDC63_ENST00000550317.1_Splice_Site|CCDC63_ENST00000545036.1_Splice_Site	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63											NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TTTGAATCTCGTATGTAAAGT	0.443																																						uc001trv.1		NA																	0				skin(6)|ovary(1)|pancreas(1)	8						c.e5+1		coiled-coil domain containing 63		G		0,4406		0,0,2203	107.0	111.0	110.0			5.8	0.4	12		110	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	CCDC63	NM_152591.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			111311766	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	160762							g.chr12:111311766G>A	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.489+1G>A	12.37:g.111311766G>A						CCDC63_uc009zvt.1_Splice_Site_p.L78_splice|CCDC63_uc010sye.1_Splice_Site_p.L123_splice|CCDC63_uc001trw.1_Splice_Site_p.L78_splice	p.L163_splice	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			5	684	+								B4DY03|Q0P603|Q6P2E1	Splice_Site	SNP	ENST00000308208.5	37	c.489_splice	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396536	0.42512	0.0	1.16E-4	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5717	0.76345	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC63	109796149	1.000000	0.71417	0.396000	0.26296	0.365000	0.29674	5.467000	0.66737	2.741000	0.93983	0.585000	0.79938	.		0.443	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591	Intron	31	145	0	0	0	0	31	145				
MAPKAPK5	8550	broad.mit.edu	37	12	112318261	112318261	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:112318261C>T	ENST00000551404.2	+	8	698	c.590C>T	c.(589-591)gCg>gTg	p.A197V	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.A197V			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						GTACTGGAGGCGCAAAGAAGG	0.463																																						uc001tta.2		NA																	0				lung(2)|ovary(1)	3						c.(589-591)GCG>GTG		MAP kinase-activated protein kinase 5 isoform 2							138.0	130.0	133.0					12																	112318261		1982	4154	6136	SO:0001583	missense	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112318261C>T	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.590C>T	12.37:g.112318261C>T	ENSP00000449381:p.Ala197Val					MAPKAPK5_uc001tsz.2_Missense_Mutation_p.A197V|MAPKAPK5_uc001ttb.2_Missense_Mutation_p.A130V	p.A197V	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN			8	849	+			197			Protein kinase.		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	c.590C>T	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128848	0.94473	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404	T;T	0.56444	0.46;0.46	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	L	0.41356	1.27	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.74674	0.93;0.984;0.972	T	0.63107	-0.6711	10	0.45353	T	0.12	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	191;197;197	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	V	197	ENSP00000449667:A197V;ENSP00000449381:A197V	ENSP00000202788:A197V	A	+	2	0	MAPKAPK5	110802644	1.000000	0.71417	0.971000	0.41717	0.579000	0.36224	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	GCG		0.463	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		5	78	0	0	0	0	5	78				
TMEM132B	114795	broad.mit.edu	37	12	126128668	126128668	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:126128668A>G	ENST00000299308.3	+	6	1477	c.1469A>G	c.(1468-1470)aAg>aGg	p.K490R	TMEM132B_ENST00000535886.1_Missense_Mutation_p.K2R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	490						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAAATGAAGAGCAAAGTG	0.488																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1468-1470)AAG>AGG		transmembrane protein 132B							103.0	101.0	101.0					12																	126128668		2002	4166	6168	SO:0001583	missense	114795					integral to membrane		g.chr12:126128668A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1469A>G	12.37:g.126128668A>G	ENSP00000299308:p.Lys490Arg					TMEM132B_uc001uhf.1_Missense_Mutation_p.K2R	p.K490R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	6	1477	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		490			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1469A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.327610	0.24080	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.47528	2.18;0.84	5.52	4.37	0.52481	.	0.135047	0.48767	N	0.000175	T	0.23370	0.0565	N	0.10664	0.02	0.37972	D	0.933305	B	0.21309	0.054	B	0.19666	0.026	T	0.16247	-1.0409	10	0.02654	T	1	.	11.441	0.50096	0.929:0.0:0.071:0.0	.	490	Q14DG7	T132B_HUMAN	R	490;2	ENSP00000299308:K490R;ENSP00000440436:K2R	ENSP00000299308:K490R	K	+	2	0	TMEM132B	124694621	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	3.485000	0.53208	0.909000	0.36697	0.533000	0.62120	AAG		0.488	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		11	98	0	0	0	0	11	98				
EFNB2	1948	broad.mit.edu	37	13	107147297	107147297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr13:107147297C>T	ENST00000245323.4	-	4	694	c.545G>A	c.(544-546)cGt>cAt	p.R182H		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	182					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAGTTCTGGACGTCTTGTTGG	0.393																																						uc001vqi.2		NA																	0				ovary(1)	1						c.(544-546)CGT>CAT		ephrin B2 precursor							296.0	273.0	281.0					13																	107147297		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107147297C>T	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.545G>A	13.37:g.107147297C>T	ENSP00000245323:p.Arg182His						p.R182H	NM_004093	NP_004084	P52799	EFNB2_HUMAN			4	570	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		182			Extracellular (Potential).		Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.545G>A	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236763	0.39498	.	.	ENSG00000125266	ENST00000245323	D	0.90955	-2.76	6.08	5.24	0.73138	.	0.264202	0.43579	D	0.000548	D	0.84383	0.5460	N	0.24115	0.695	0.48288	D	0.999625	B	0.27229	0.172	B	0.19666	0.026	T	0.81701	-0.0813	10	0.51188	T	0.08	.	15.5081	0.75757	0.0:0.9339:0.0:0.0661	.	182	P52799	EFNB2_HUMAN	H	182	ENSP00000245323:R182H	ENSP00000245323:R182H	R	-	2	0	EFNB2	105945298	0.999000	0.42202	0.992000	0.48379	0.997000	0.91878	3.796000	0.55507	1.584000	0.49913	0.655000	0.94253	CGT		0.393	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		12	276	0	0	0	0	12	276				
PROZ	8858	broad.mit.edu	37	13	113824825	113824825	+	Missense_Mutation	SNP	G	G	T	rs150819115		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr13:113824825G>T	ENST00000375547.2	+	7	679	c.672G>T	c.(670-672)agG>agT	p.R224S	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000342783.4_Missense_Mutation_p.R246S	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	224	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGTTACACAGGAATATTACTG	0.294																																						uc001vta.1		NA																	0					0						c.(670-672)AGG>AGT		protein Z, vitamin K-dependent plasma	Menadione(DB00170)						52.0	55.0	54.0					13																	113824825		2203	4298	6501	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113824825G>T	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.672G>T	13.37:g.113824825G>T	ENSP00000364697:p.Arg224Ser					PROZ_uc010agr.1_Missense_Mutation_p.R246S	p.R224S	NM_003891	NP_003882	P22891	PROZ_HUMAN	all cancers(43;0.104)		7	679	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	224			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.672G>T	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.822876	0.00589	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.87966	-2.32;-2.32	3.88	-0.309	0.12769	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.355820	0.04267	N	0.341302	T	0.71204	0.3312	N	0.04090	-0.28	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.14023	0.01;0.008	T	0.59392	-0.7463	10	0.87932	D	0	.	1.6594	0.02788	0.3392:0.3904:0.114:0.1564	.	246;224	P22891-2;P22891	.;PROZ_HUMAN	S	224;246	ENSP00000364697:R224S;ENSP00000344458:R246S	ENSP00000344458:R246S	R	+	3	2	PROZ	112872826	0.000000	0.05858	0.019000	0.16419	0.298000	0.27526	-0.084000	0.11268	-0.373000	0.07979	0.313000	0.20887	AGG		0.294	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		11	102	1	0	3.86e-05	4.38e-05	11	102				
SALL2	6297	broad.mit.edu	37	14	21992498	21992498	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:21992498G>T	ENST00000327430.3	-	2	1658	c.1364C>A	c.(1363-1365)tCc>tAc	p.S455Y	SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Missense_Mutation_p.S318Y|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGTGGCACGGACATACCATA	0.582																																						uc001wbe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1363-1365)TCC>TAC		sal-like 2							75.0	52.0	60.0					14																	21992498		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992498G>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1364C>A	14.37:g.21992498G>T	ENSP00000333537:p.Ser455Tyr					SALL2_uc010tly.1_Missense_Mutation_p.S453Y|SALL2_uc010tlz.1_Missense_Mutation_p.S318Y|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.S320Y|SALL2_uc001wbg.1_Intron	p.S455Y	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1646	-	all_cancers(95;0.000662)		455					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.1364C>A	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.25|17.25	3.342945|3.342945	0.61073|0.61073	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000450879;ENST00000541876	.|T;T	.|0.06218	.|3.33;3.36	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|0.000000	.|0.38326	.|N	.|0.001738	T|T	0.24160|0.24160	0.0585|0.0585	M|M	0.81112|0.81112	2.525|2.525	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.71674	.|0.998;0.998;0.998	.|D;D;P	.|0.62955	.|0.909;0.909;0.879	T|T	0.01280|0.01280	-1.1397|-1.1397	5|10	.|0.72032	.|D	.|0.01	-7.5989|-7.5989	14.949|14.949	0.71057|0.71057	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|318;318;455	.|B4DK65;E7EW59;Q9Y467	.|.;.;SALL2_HUMAN	T|Y	314|455;318;455	.|ENSP00000333537:S455Y;ENSP00000396773:S318Y	.|ENSP00000333537:S455Y	P|S	-|-	1|2	0|0	SALL2|SALL2	21062338|21062338	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.836000|0.836000	0.47400|0.47400	7.674000|7.674000	0.83992|0.83992	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	CCG|TCC		0.582	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		11	33	1	0	0.000673444	0.000734666	11	33				
ADCY4	196883	broad.mit.edu	37	14	24793592	24793592	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:24793592G>A	ENST00000310677.4	-	16	1942	c.1829C>T	c.(1828-1830)cCa>cTa	p.P610L	ADCY4_ENST00000554068.2_Missense_Mutation_p.P610L|ADCY4_ENST00000418030.2_Missense_Mutation_p.P610L|ADCY4_ENST00000396747.3_Missense_Mutation_p.P303L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	610					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGCCAGAGCTGGGGGCCTGAA	0.567																																						uc001wov.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(1828-1830)CCA>CTA		adenylate cyclase 4							64.0	60.0	61.0					14																	24793592		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24793592G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1829C>T	14.37:g.24793592G>A	ENSP00000312126:p.Pro610Leu					ADCY4_uc001wow.2_Missense_Mutation_p.P610L|ADCY4_uc010toh.1_Missense_Mutation_p.P296L|ADCY4_uc001wox.2_Missense_Mutation_p.P610L|ADCY4_uc001woy.2_Missense_Mutation_p.P610L	p.P610L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	15	1835	-			610					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1829C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372417	0.82573	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.78003	-0.94;-0.94;-0.94;-1.14	5.58	5.58	0.84498	.	0.157395	0.30126	N	0.010345	T	0.71074	0.3297	L	0.51422	1.61	0.53688	D	0.999979	B	0.10296	0.003	B	0.15484	0.013	T	0.64676	-0.6351	10	0.11485	T	0.65	.	15.0747	0.72069	0.0:0.0:1.0:0.0	.	610	Q8NFM4	ADCY4_HUMAN	L	610;610;610;303	ENSP00000312126:P610L;ENSP00000452250:P610L;ENSP00000393177:P610L;ENSP00000379971:P303L	ENSP00000312126:P610L	P	-	2	0	ADCY4	23863432	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.635000	0.83286	2.638000	0.89438	0.655000	0.94253	CCA		0.567	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			3	61	0	0	0	0	3	61				
HECTD1	25831	broad.mit.edu	37	14	31642844	31642844	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:31642844G>A	ENST00000399332.1	-	5	1260	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	HECTD1_ENST00000553700.1_Missense_Mutation_p.R258C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	258					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTGGTGCTGCGACCTGGTTTG	0.493																																						uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(772-774)CGC>TGC		HECT domain containing 1							92.0	95.0	94.0					14																	31642844		2100	4239	6339	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31642844G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.772C>T	14.37:g.31642844G>A	ENSP00000382269:p.Arg258Cys						p.R258C	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	5	1261	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		258					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.772C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880804	0.72294	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.30714	1.52;1.52;1.52	5.78	4.84	0.62591	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.39035	-0.9633	10	0.56958	D	0.05	-6.4229	15.9368	0.79717	0.0:0.0:0.7726:0.2274	.	258	Q9ULT8	HECD1_HUMAN	C	258	ENSP00000450697:R258C;ENSP00000382269:R258C;ENSP00000452015:R258C	ENSP00000261312:R258C	R	-	1	0	HECTD1	30712595	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.954000	0.63631	2.894000	0.99253	0.591000	0.81541	CGC		0.493	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			6	81	0	0	0	0	6	81				
SLC8A3	6547	broad.mit.edu	37	14	70527612	70527612	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:70527612C>T	ENST00000381269.2	-	3	2582	c.1829G>A	c.(1828-1830)aGg>aAg	p.R610K	SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R610K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R610K|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000533899.1_5'UTR	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	610	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTCTCTTGCCTTTCGTATTC	0.398																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1828-1830)AGG>AAG		solute carrier family 8 (sodium/calcium							186.0	160.0	168.0					14																	70527612		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70527612C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1829G>A	14.37:g.70527612C>T	ENSP00000370669:p.Arg610Lys					SLC8A3_uc001xlu.2_Intron|SLC8A3_uc001xlv.2_5'UTR|SLC8A3_uc001xlw.2_Missense_Mutation_p.R610K|SLC8A3_uc001xlx.2_Intron|SLC8A3_uc001xlz.2_Missense_Mutation_p.R610K|SLC8A3_uc010ara.2_Intron|SLC8A3_uc001xma.2_Intron	p.R610K	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	3	2583	-			610			Calx-beta 2.|Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1829G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	7.707	0.694274	0.15039	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000534137	T;T;T	0.29142	1.58;1.58;1.58	5.93	5.93	0.95920	Na-Ca exchanger/integrin-beta4 (2);	0.192851	0.53938	N	0.000042	T	0.06872	0.0175	N	0.00046	-2.44	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.51228	-0.8732	10	0.02654	T	1	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	610;610;610	P57103-2;P57103;Q96QG1	.;NAC3_HUMAN;.	K	610	ENSP00000349392:R610K;ENSP00000370669:R610K;ENSP00000436688:R610K	ENSP00000349392:R610K	R	-	2	0	SLC8A3	69597365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.145000	0.58065	2.821000	0.97095	0.555000	0.69702	AGG		0.398	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			27	98	0	0	0	0	27	98				
NDNL2	56160	broad.mit.edu	37	15	29561302	29561302	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:29561302C>A	ENST00000332303.4	-	1	731	c.608G>T	c.(607-609)cGg>cTg	p.R203L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	203	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCCTAAGCGCCGCAGAAAGTC	0.512																																						uc001zco.2		NA																	0					0						c.(607-609)CGG>CTG		necdin-like 2							43.0	47.0	46.0					15																	29561302		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561302C>A	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.608G>T	15.37:g.29561302C>A	ENSP00000330694:p.Arg203Leu					FAM189A1_uc010azk.1_Intron	p.R203L	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	716	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	203			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.608G>T	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996004	0.54147	.	.	ENSG00000185115	ENST00000332303	T	0.05580	3.42	4.1	2.19	0.27852	.	0.120767	0.53938	D	0.000054	T	0.10121	0.0248	L	0.57536	1.79	0.34588	D	0.715173	P	0.47302	0.893	P	0.48982	0.597	T	0.14476	-1.0471	10	0.72032	D	0.01	.	5.534	0.17001	0.0:0.6878:0.2035:0.1087	.	203	Q96MG7	MAGG1_HUMAN	L	203	ENSP00000330694:R203L	ENSP00000330694:R203L	R	-	2	0	NDNL2	27348594	0.871000	0.30034	0.233000	0.24025	0.811000	0.45836	1.376000	0.34306	0.663000	0.31027	0.563000	0.77884	CGG		0.512	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		15	77	1	0	3.27e-08	3.81e-08	15	77				
DMXL2	23312	broad.mit.edu	37	15	51757808	51757808	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:51757808G>A	ENST00000251076.5	-	31	7845	c.7558C>T	c.(7558-7560)Cac>Tac	p.H2520Y	DMXL2_ENST00000449909.3_Missense_Mutation_p.H1884Y|DMXL2_ENST00000543779.2_Missense_Mutation_p.H2521Y|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2520						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTGACATTGTGAAGTGCTAGT	0.343																																						uc002abf.2		NA																	0				ovary(6)|skin(3)	9						c.(7558-7560)CAC>TAC		Dmx-like 2							100.0	108.0	105.0					15																	51757808		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51757808G>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7558C>T	15.37:g.51757808G>A	ENSP00000251076:p.His2520Tyr					DMXL2_uc002abd.2_Missense_Mutation_p.H591Y|DMXL2_uc010ufy.1_Missense_Mutation_p.H2521Y|DMXL2_uc010bfa.2_Missense_Mutation_p.H1884Y	p.H2520Y	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	31	7783	-			2520					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7558C>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153548	0.57259	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.24908	1.97;1.97;1.83	5.29	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.56396	1.775	0.58432	D	0.999999	P;D;P;B	0.59357	0.905;0.985;0.671;0.027	P;P;B;B	0.49387	0.609;0.541;0.259;0.018	T	0.04413	-1.0953	10	0.26408	T	0.33	.	10.6659	0.45731	0.0696:0.0:0.7992:0.1311	.	2521;1884;2520;2521	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Y	2520;2521;1884;65	ENSP00000251076:H2520Y;ENSP00000441858:H2521Y;ENSP00000400855:H1884Y	ENSP00000251076:H2520Y	H	-	1	0	DMXL2	49545100	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.705000	0.68355	1.450000	0.47717	-0.282000	0.10007	CAC		0.343	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		23	173	0	0	0	0	23	173				
NTRK3	4916	broad.mit.edu	37	15	88483890	88483890	+	Silent	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr15:88483890G>T	ENST00000360948.2	-	14	1841	c.1680C>A	c.(1678-1680)ctC>ctA	p.L560L	NTRK3_ENST00000558676.1_Silent_p.L552L|NTRK3_ENST00000542733.2_Silent_p.L462L|NTRK3_ENST00000355254.2_Silent_p.L560L|NTRK3_ENST00000394480.2_Silent_p.L560L|NTRK3_ENST00000557856.1_Silent_p.L552L|NTRK3_ENST00000357724.2_Silent_p.L552L	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	560	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGTCGGGCTGAGGTTGTAGC	0.582			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1678-1680)CTC>CTA		neurotrophic tyrosine kinase, receptor, type 3							141.0	115.0	124.0					15																	88483890		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88483890G>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1680C>A	15.37:g.88483890G>T		TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Silent_p.L552L|NTRK3_uc002bmf.1_Silent_p.L560L|NTRK3_uc010upl.1_Silent_p.L462L|NTRK3_uc010bnh.1_Silent_p.L552L	p.L560L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1842	-			560			Cytoplasmic (Potential).|Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.1680C>A	CCDS32322.1																																																																																				0.582	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				39	120	1	0	1.08e-08	1.26e-08	39	120				
MYH11	4629	broad.mit.edu	37	16	15812199	15812199	+	Missense_Mutation	SNP	G	G	T	rs139620532		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr16:15812199G>T	ENST00000300036.5	-	37	5377	c.5268C>A	c.(5266-5268)agC>agA	p.S1756R	NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.S1756R|MYH11_ENST00000396324.3_Missense_Mutation_p.S1763R|MYH11_ENST00000452625.2_Missense_Mutation_p.S1763R|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1756					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGACCCGGTCGCTCATGGCCT	0.657			T	CBFB	AML																																	uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(5266-5268)AGC>AGA		smooth muscle myosin heavy chain 11 isoform							80.0	54.0	63.0					16																	15812199		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15812199G>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5268C>A	16.37:g.15812199G>T	ENSP00000300036:p.Ser1756Arg					MYH11_uc002ddv.2_Missense_Mutation_p.S1763R|MYH11_uc002ddw.2_Missense_Mutation_p.S1756R|MYH11_uc002ddx.2_Missense_Mutation_p.S1763R|MYH11_uc010bvg.2_Missense_Mutation_p.S1588R|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.S462R	p.S1756R	NM_002474	NP_002465	P35749	MYH11_HUMAN			37	5375	-			1756			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5268C>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172922	0.57584	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.7	-6.97	0.01616	Myosin tail (1);	0.104310	0.64402	D	0.000004	T	0.68238	0.2979	L	0.52573	1.65	0.44085	D	0.996847	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.001;0.001	B;B;B;B;B	0.16289	0.015;0.009;0.009;0.009;0.009	T	0.32348	-0.9910	10	0.87932	D	0	.	16.1407	0.81519	0.9001:0.0:0.0999:0.0	.	1763;1756;1763;1756;1763	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	R	1756;1756;1763;1763;1763	ENSP00000300036:S1756R;ENSP00000345136:S1756R;ENSP00000379616:S1763R;ENSP00000407821:S1763R	ENSP00000300036:S1756R	S	-	3	2	MYH11	15719700	0.234000	0.23783	0.442000	0.26870	0.921000	0.55340	-0.193000	0.09573	-1.793000	0.01258	-0.258000	0.10820	AGC		0.657	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		16	88	1	0	1.37e-15	1.66e-15	16	88				
OTOA	146183	broad.mit.edu	37	16	21693074	21693074	+	Silent	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr16:21693074G>T	ENST00000286149.4	+	5	196	c.195G>T	c.(193-195)acG>acT	p.T65T	OTOA_ENST00000388958.3_Silent_p.T65T|OTOA_ENST00000388956.4_5'Flank			Q7RTW8	OTOAN_HUMAN	otoancorin	65					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ACGTGTGGACGGATGACCTGT	0.512																																						uc002djh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(193-195)ACG>ACT		otoancorin isoform 1							169.0	126.0	141.0					16																	21693074		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21693074G>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.195G>T	16.37:g.21693074G>T						uc002diq.3_Intron|OTOA_uc010vbj.1_5'Flank	p.T65T	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	5	196	+			65					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.195G>T																																																																																					0.512	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			10	51	1	0	0.00829132	0.00885085	10	51				
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:7576855G>A	ENST00000269305.4	-	9	1180	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTAGTACCTGAAGGGTGAAA	0.448		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		34	Substitution - Nonsense(23)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)	p.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(1)	lung(6)|large_intestine(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|skin(2)|ovary(2)|stomach(1)|breast(1)|oesophagus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(991-993)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							115.0	108.0	110.0					17																	7576855		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576855G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.991C>T	17.37:g.7576855G>A	ENSP00000269305:p.Gln331*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q331*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q199*|TP53_uc010cng.1_Nonsense_Mutation_p.Q199*|TP53_uc002gii.1_Nonsense_Mutation_p.Q199*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q331*|TP53_uc010cni.1_Nonsense_Mutation_p.Q331*|TP53_uc002gij.2_Nonsense_Mutation_p.Q331*	p.Q331*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1185	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	331		Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.991C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117678	0.77323	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.95	2.88	0.33553	.	0.253251	0.40469	N	0.001098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-17.7352	9.751	0.40475	0.0:0.0:0.4869:0.5131	.	.	.	.	X	331;331;331;331;331;320;199	.	ENSP00000269305:Q331X	Q	-	1	0	TP53	7517580	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.858000	0.39408	0.557000	0.29117	-0.314000	0.08810	CAG		0.448	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	108	0	0	0	0	6	108				
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM067054	TP53	M		c.(535-537)CAT>TAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578395		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578395G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y	p.H179Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	729	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	73	0	0	0	0	4	73				
FLOT2	2319	broad.mit.edu	37	17	27209178	27209178	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:27209178G>A	ENST00000394908.4	-	7	761	c.657C>T	c.(655-657)ttC>ttT	p.F219F	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Silent_p.F274F|FLOT2_ENST00000585169.1_Silent_p.F219F	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	219					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TTTGCAGCTCGAAGGCTCGCT	0.542																																						uc002hdc.2		NA																	0					0						c.(655-657)TTC>TTT		flotillin 2							83.0	87.0	86.0					17																	27209178		2118	4228	6346	SO:0001819	synonymous_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27209178G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.657C>T	17.37:g.27209178G>A							p.F219F	NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		7	780	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		219						Silent	SNP	ENST00000394908.4	37	c.657C>T	CCDS11245.2																																																																																				0.542	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		15	109	0	0	0	0	15	109				
IKZF3	22806	broad.mit.edu	37	17	37933964	37933964	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:37933964G>A	ENST00000346872.3	-	7	827	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377944.3_Silent_p.L113L|IKZF3_ENST00000467757.1_Silent_p.L200L|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000351680.3_Silent_p.L217L|IKZF3_ENST00000350532.3_Intron|IKZF3_ENST00000439167.2_Silent_p.L183L|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000535189.1_Silent_p.L222L|IKZF3_ENST00000439016.2_Silent_p.L161L|IKZF3_ENST00000377958.2_Silent_p.L169L|IKZF3_ENST00000583368.1_Silent_p.L9L|IKZF3_ENST00000394189.2_Silent_p.L74L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	256					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATCTGTCCAGTACGAGAGCT	0.398																																						uc002hsu.2		NA																	0				lung(2)|kidney(2)|skin(2)	6						c.(766-768)CTG>TTG		aiolos isoform 1							219.0	235.0	229.0					17																	37933964		2203	4300	6503	SO:0001819	synonymous_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37933964G>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.766C>T	17.37:g.37933964G>A						IKZF3_uc002htd.2_Silent_p.L222L|IKZF3_uc010cwd.2_Silent_p.L113L|IKZF3_uc002hsv.2_Silent_p.L183L|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Silent_p.L74L|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Silent_p.L217L|IKZF3_uc002hsx.2_Silent_p.L200L|IKZF3_uc002hsy.2_Intron|IKZF3_uc002hsz.2_Silent_p.L161L|IKZF3_uc002hta.2_Intron|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.L169L|IKZF3_uc002htc.2_Silent_p.L9L|IKZF3_uc010wel.1_Silent_p.L9L	p.L256L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	828	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		256					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	c.766C>T	CCDS11346.1																																																																																				0.398	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		17	108	0	0	0	0	17	108				
PRCD	768206	broad.mit.edu	37	17	74538650	74538650	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr17:74538650G>A	ENST00000586148.1	+	3	211	c.159G>A	c.(157-159)ctG>ctA	p.L53L	CYGB_ENST00000589145.1_Intron|PRCD_ENST00000592432.1_3'UTR|PRCD_ENST00000592014.1_Silent_p.L53L			Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration	53					response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											AAGAACCTCTGAAGTAAGCCC	0.607																																						uc002jrx.2		NA																	0					0						c.(157-159)CTG>CTA		progressive rod-cone degeneration							81.0	82.0	81.0					17																	74538650		1950	4140	6090	SO:0001819	synonymous_variant	768206				response to stimulus|visual perception	cytoplasm|integral to membrane		g.chr17:74538650G>A	DQ390338	CCDS42382.1	17q25.1	2008-10-24			ENSG00000214140	ENSG00000214140			32528	protein-coding gene	gene with protein product		610598				16938425	Standard	NM_001077620		Approved	RP36	uc002jrw.1	Q00LT1	OTTHUMG00000132200	ENST00000586148.1:c.159G>A	17.37:g.74538650G>A						CYGB_uc002jrv.1_Intron|PRCD_uc002jrw.1_5'UTR|PRCD_uc002jry.1_5'UTR|PRCD_uc002jrz.1_5'Flank	p.L53L	NM_001077620	NP_001071088	Q00LT1	PRCD_HUMAN			3	262	+			53					B9EJD4	Silent	SNP	ENST00000586148.1	37	c.159G>A	CCDS42382.1																																																																																				0.607	PRCD-008	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450598.1			7	64	0	0	0	0	7	64				
MYOM1	8736	broad.mit.edu	37	18	3135616	3135616	+	Missense_Mutation	SNP	C	C	A	rs183881662		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr18:3135616C>A	ENST00000356443.4	-	15	2471	c.2138G>T	c.(2137-2139)cGc>cTc	p.R713L	MYOM1_ENST00000261606.7_Missense_Mutation_p.R713L|MYOM1_ENST00000400569.3_Missense_Mutation_p.R713L	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	713	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTAGAACAGCGGACACGGAA	0.512																																						uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2137-2139)CGC>CTC		myomesin 1 isoform a							46.0	49.0	48.0					18																	3135616		1941	4137	6078	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3135616C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2138G>T	18.37:g.3135616C>A	ENSP00000348821:p.Arg713Leu					MYOM1_uc002klq.2_Missense_Mutation_p.R713L	p.R713L	NM_003803	NP_003794	P52179	MYOM1_HUMAN			15	2472	-			713			Fibronectin type-III 2.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2138G>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566603	0.96540	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.58060	0.36;0.36;0.36	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.57464	-0.7807	10	0.09843	T	0.71	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	713;713	P52179-2;P52179	.;MYOM1_HUMAN	L	713	ENSP00000348821:R713L;ENSP00000383413:R713L;ENSP00000261606:R713L	ENSP00000261606:R713L	R	-	2	0	MYOM1	3125616	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.818000	0.86416	2.821000	0.97095	0.650000	0.86243	CGC		0.512	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		8	46	1	0	1.07e-07	1.24e-07	8	46				
RBBP8	5932	broad.mit.edu	37	18	20555121	20555121	+	Missense_Mutation	SNP	G	G	C	rs370650618		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr18:20555121G>C	ENST00000399722.2	+	6	718	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	RBBP8_ENST00000360790.5_Missense_Mutation_p.E123Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E123Q|RBBP8_ENST00000399725.2_Missense_Mutation_p.E123Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	123				E -> G (in Ref. 3; BAF85170). {ECO:0000305}.	blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTAAGTGAATGAAAGGAATAC	0.264								Homologous recombination																														uc002ktw.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(367-369)GAA>CAA	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a							26.0	27.0	27.0					18																	20555121		2188	4267	6455	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20555121G>C	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.367G>C	18.37:g.20555121G>C	ENSP00000382628:p.Glu123Gln					RBBP8_uc002kty.2_Missense_Mutation_p.E123Q|RBBP8_uc002ktz.2_Missense_Mutation_p.E123Q|RBBP8_uc002kua.2_Missense_Mutation_p.E123Q|RBBP8_uc002ktx.1_Missense_Mutation_p.E123Q	p.E123Q	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		6	698	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		123			Potential.		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.367G>C	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933115	0.34096	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.54071	0.83;0.59;0.83;0.6;0.83	5.33	5.33	0.75918	Tumour-suppressor protein CtIP N-terminal (1);	0.057722	0.64402	D	0.000002	T	0.70168	0.3193	M	0.67397	2.05	0.80722	D	1	D;D;D	0.62365	0.987;0.991;0.987	P;P;P	0.62089	0.878;0.898;0.878	T	0.72966	-0.4131	10	0.87932	D	0	-22.775	18.9924	0.92798	0.0:0.0:1.0:0.0	.	123;123;123	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	Q	123	ENSP00000323050:E123Q;ENSP00000382630:E123Q;ENSP00000382628:E123Q;ENSP00000382627:E123Q;ENSP00000354024:E123Q	ENSP00000323050:E123Q	E	+	1	0	RBBP8	18809119	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	6.721000	0.74728	2.653000	0.90120	0.650000	0.86243	GAA		0.264	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		5	83	0	0	0	0	5	83				
CHAF1A	10036	broad.mit.edu	37	19	4428796	4428796	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:4428796G>A	ENST00000301280.5	+	8	1614	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	505					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAGCGGCGAGTTCTCCTT	0.582								Chromatin Structure																														uc002mal.2		NA																	0				ovary(1)|skin(1)	2						c.(1513-1515)GAG>AAG	Chromatin_Structure	chromatin assembly factor 1, subunit A (p150)							42.0	46.0	44.0					19																	4428796		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4428796G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1513G>A	19.37:g.4428796G>A	ENSP00000301280:p.Glu505Lys						p.E505K	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1613	+		Hepatocellular(1079;0.137)	505					Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.1513G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081815	0.20309	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.15487	2.42	5.3	-1.05	0.10036	.	.	.	.	.	T	0.09686	0.0238	L	0.43152	1.355	0.09310	N	1	P	0.41313	0.745	B	0.23018	0.043	T	0.19257	-1.0311	9	0.87932	D	0	-3.4977	5.8855	0.18878	0.3654:0.1281:0.5065:0.0	.	505	Q13111	CAF1A_HUMAN	K	505	ENSP00000301280:E505K	ENSP00000301280:E505K	E	+	1	0	CHAF1A	4379796	0.002000	0.14202	0.000000	0.03702	0.025000	0.11179	1.255000	0.32909	-0.058000	0.13177	0.555000	0.69702	GAG		0.582	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		10	68	0	0	0	0	10	68				
ZNF99	7652	broad.mit.edu	37	19	22940600	22940600	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:22940600G>C	ENST00000596209.1	-	4	2201	c.2111C>G	c.(2110-2112)cCc>cGc	p.P704R	ZNF99_ENST00000397104.3_Missense_Mutation_p.P613R|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	704					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTAGGGTTTCTTTCC	0.373																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1837-1839)CCC>CGC		zinc finger protein 99							43.0	46.0	45.0					19																	22940600		2071	4226	6297	SO:0001583	missense	7652							g.chr19:22940600G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2111C>G	19.37:g.22940600G>C	ENSP00000472969:p.Pro704Arg						p.P613R	NM_001080409	NP_001073878					5	1838	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1838C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.224072	0.39300	.	.	ENSG00000213973	ENST00000397104	T	0.17213	2.29	0.726	0.726	0.18248	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38612	0.1047	M	0.81614	2.55	0.39253	D	0.964076	D	0.89917	1.0	D	0.91635	0.999	T	0.39251	-0.9623	9	0.62326	D	0.03	.	8.9692	0.35897	0.0:0.0:1.0:0.0	.	613	A8MXY4	ZNF99_HUMAN	R	613	ENSP00000380293:P613R	ENSP00000380293:P613R	P	-	2	0	ZNF99	22732440	0.682000	0.27624	0.015000	0.15790	0.437000	0.31866	1.375000	0.34295	0.680000	0.31366	0.400000	0.26472	CCC		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		8	71	0	0	0	0	8	71				
ZNF540	163255	broad.mit.edu	37	19	38103919	38103919	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:38103919A>G	ENST00000592533.1	+	5	2070	c.1738A>G	c.(1738-1740)Aaa>Gaa	p.K580E	ZNF540_ENST00000589117.1_Missense_Mutation_p.K548E|ZNF540_ENST00000343599.5_Missense_Mutation_p.K580E|ZNF540_ENST00000316433.4_Missense_Mutation_p.K580E	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	580					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACCATACAAATGTAAAGA	0.398																																						uc002ogq.2		NA																	0				large_intestine(1)	1						c.(1738-1740)AAA>GAA		zinc finger protein 540							78.0	83.0	81.0					19																	38103919		2203	4300	6503	SO:0001583	missense	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38103919A>G	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1738A>G	19.37:g.38103919A>G	ENSP00000466274:p.Lys580Glu					ZNF540_uc002ogu.2_Missense_Mutation_p.K580E|ZNF540_uc010efq.2_Missense_Mutation_p.K548E	p.K580E	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2070	+			580			C2H2-type 15.		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1738A>G	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	A	2.369	-0.344887	0.05208	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.57752	0.38	2.27	0.786	0.18590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30572	0.0769	L	0.35793	1.09	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.09377	0.003;0.004	T	0.28650	-1.0037	9	0.02654	T	1	.	2.3716	0.04331	0.4914:0.0:0.2829:0.2257	.	548;580	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	E	580;548	ENSP00000324598:K580E	ENSP00000324598:K580E	K	+	1	0	ZNF540	42795759	0.000000	0.05858	0.039000	0.18376	0.962000	0.63368	-5.528000	0.00115	0.119000	0.18210	0.254000	0.18369	AAA		0.398	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		9	127	0	0	0	0	9	127				
CEACAM3	1084	broad.mit.edu	37	19	42301736	42301736	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:42301736G>A	ENST00000357396.3	+	2	521	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	94	Ig-like V-type.					integral component of membrane (GO:0016021)		p.A94T(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCCAGGGGCCGCATACAGCGG	0.463																																						uc002orn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(280-282)GCA>ACA		carcinoembryonic antigen-related cell adhesion							188.0	210.0	202.0					19																	42301736		2181	4300	6481	SO:0001583	missense	1084					integral to membrane		g.chr19:42301736G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.280G>A	19.37:g.42301736G>A	ENSP00000349971:p.Ala94Thr					CEACAM3_uc010eia.1_Missense_Mutation_p.A94T|CEACAM3_uc002oro.1_RNA	p.A94T	NM_001815	NP_001806	P40198	CEAM3_HUMAN			2	356	+			94			Ig-like V-type.|Extracellular (Potential).		G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	c.280G>A	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268890	0.59540	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.66280	-0.2;-0.2;-0.2	3.43	3.43	0.39272	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76955	0.4060	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	1.0;0.975	D;P	0.63192	0.912;0.825	T	0.66031	-0.6024	9	0.62326	D	0.03	.	10.7307	0.46096	0.0:0.0:1.0:0.0	.	94;94	G5E978;P40198	.;CEAM3_HUMAN	T	94	ENSP00000349971:A94T;ENSP00000221999:A94T;ENSP00000341725:A94T	ENSP00000221999:A94T	A	+	1	0	CEACAM3	46993576	0.017000	0.18338	0.003000	0.11579	0.001000	0.01503	3.073000	0.50057	1.639000	0.50556	0.508000	0.49915	GCA		0.463	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		5	256	0	0	0	0	5	256				
VN1R2	317701	broad.mit.edu	37	19	53762257	53762257	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:53762257G>A	ENST00000341702.3	+	1	713	c.629G>A	c.(628-630)gGt>gAt	p.G210D		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	210					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACATACATTGGTCTCTCCAAT	0.458																																						uc002qbi.2		NA																	0					0						c.(628-630)GGT>GAT		vomeronasal 1 receptor 2							56.0	56.0	56.0					19																	53762257		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762257G>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.629G>A	19.37:g.53762257G>A	ENSP00000351244:p.Gly210Asp						p.G210D	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	713	+			210			Helical; Name=4; (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.629G>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078056	0.36662	.	.	ENSG00000196131	ENST00000341702	T	0.09445	2.98	2.94	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12646	0.0307	L	0.38953	1.18	0.09310	N	0.999992	P	0.50156	0.932	P	0.49047	0.599	T	0.15321	-1.0441	9	0.51188	T	0.08	.	8.3474	0.32281	0.1241:0.0:0.8759:0.0	.	210	Q8NFZ6	VN1R2_HUMAN	D	210	ENSP00000351244:G210D	ENSP00000351244:G210D	G	+	2	0	VN1R2	58454069	0.000000	0.05858	0.034000	0.17996	0.091000	0.18340	-0.212000	0.09319	0.841000	0.35020	0.596000	0.82720	GGT		0.458	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		6	57	0	0	0	0	6	57				
ZNF582	147948	broad.mit.edu	37	19	56895798	56895798	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:56895798G>C	ENST00000301310.4	-	5	1146	c.988C>G	c.(988-990)Cag>Gag	p.Q330E	ZNF582_ENST00000586929.1_Missense_Mutation_p.Q330E|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGAACAGTCTGATGTTGAATC	0.383																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(988-990)CAG>GAG		zinc finger protein 582							92.0	92.0	92.0					19																	56895798		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56895798G>C	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.988C>G	19.37:g.56895798G>C	ENSP00000301310:p.Gln330Glu					ZNF582_uc002qmy.2_Missense_Mutation_p.Q361E	p.Q330E	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	1147	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	330			C2H2-type 6.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.988C>G	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875047	0.33162	.	.	ENSG00000018869	ENST00000301310	T	0.35605	1.3	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.242018	0.21698	N	0.070472	T	0.41143	0.1146	M	0.72479	2.2	0.24389	N	0.994759	B;P	0.52577	0.167;0.954	B;B	0.42522	0.029;0.39	T	0.48091	-0.9065	10	0.59425	D	0.04	.	14.8135	0.70013	0.0:0.0:1.0:0.0	.	330;361	Q96NG8;B4DQZ9	ZN582_HUMAN;.	E	330	ENSP00000301310:Q330E	ENSP00000301310:Q330E	Q	-	1	0	ZNF582	61587610	0.633000	0.27181	0.954000	0.39281	0.199000	0.23934	3.015000	0.49599	2.538000	0.85594	0.655000	0.94253	CAG		0.383	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		3	160	0	0	0	0	3	160				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						uc002qqo.2		NA																	2	Substitution - coding silent(2)		kidney(2)		0						c.(994-996)TCG>TCC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.S332S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1268	-			332			C2H2-type 5.		A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	12	0	0	0	0	2	12				
CENPO	79172	broad.mit.edu	37	2	25038610	25038610	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:25038610G>A	ENST00000380834.2	+	5	1004	c.579G>A	c.(577-579)caG>caA	p.Q193Q	CENPO_ENST00000395845.2_3'UTR|CENPO_ENST00000473706.1_Silent_p.Q187Q|CENPO_ENST00000260662.1_Silent_p.Q193Q			Q9BU64	CENPO_HUMAN	centromere protein O	193					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGAAGTACCAGGCAGACCGGC	0.468																																						uc002rfo.1		NA																	0				ovary(1)	1						c.(577-579)CAG>CAA		centromere protein O							87.0	85.0	86.0					2																	25038610		2203	4300	6503	SO:0001819	synonymous_variant	79172				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr2:25038610G>A	AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.579G>A	2.37:g.25038610G>A						CENPO_uc002rfn.2_Silent_p.Q193Q|CENPO_uc002rfp.1_Silent_p.Q187Q|CENPO_uc002rfq.1_Silent_p.Q193Q	p.Q193Q	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN			5	768	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		193					B2RDC0|D6W536|Q53T55|Q96JV3	Silent	SNP	ENST00000380834.2	37	c.579G>A	CCDS1714.1																																																																																				0.468	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246856.2	NM_024322		25	121	0	0	0	0	25	121				
BIRC6	57448	broad.mit.edu	37	2	32730182	32730182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:32730182G>T	ENST00000421745.2	+	50	9744	c.9610G>T	c.(9610-9612)Gag>Tag	p.E3204*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3204					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTTCTTCCAGAGGAGGCTTG	0.502																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(9610-9612)GAG>TAG		baculoviral IAP repeat-containing 6							114.0	81.0	93.0					2																	32730182		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32730182G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9610G>T	2.37:g.32730182G>T	ENSP00000393596:p.Glu3204*						p.E3204*	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			50	9744	+	Acute lymphoblastic leukemia(172;0.155)		3204					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.9610G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	52	18.713095	0.99909	.	.	ENSG00000115760	ENST00000421745	.	.	.	6.02	6.02	0.97574	.	0.223497	0.44902	D	0.000409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	X	3204	.	ENSP00000393596:E3204X	E	+	1	0	BIRC6	32583686	1.000000	0.71417	0.988000	0.46212	0.896000	0.52359	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GAG		0.502	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	28	1	0	0.00024832	0.000274334	3	28				
ALMS1	7840	broad.mit.edu	37	2	73676156	73676156	+	Silent	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:73676156T>A	ENST00000264448.6	+	8	2610	c.2499T>A	c.(2497-2499)gcT>gcA	p.A833A	ALMS1_ENST00000377715.1_Silent_p.A833A|ALMS1_ENST00000409009.1_Silent_p.A791A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	833	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGAAGAGGCTCTGAAAGTTT	0.517																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(2503-2505)GCT>GCA		Alstrom syndrome 1							79.0	82.0	81.0					2																	73676156		1900	4121	6021	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73676156T>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2499T>A	2.37:g.73676156T>A						ALMS1_uc002sjf.1_Silent_p.A791A|ALMS1_uc002sjg.2_Silent_p.A221A|ALMS1_uc002sjh.1_Silent_p.A221A	p.A835A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	2616	+			833			7.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.2505T>A	CCDS42697.1																																																																																				0.517	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		19	93	0	0	0	0	19	93				
ELMOD3	84173	broad.mit.edu	37	2	85598671	85598671	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:85598671A>G	ENST00000409890.2	+	10	1260	c.593A>G	c.(592-594)gAc>gGc	p.D198G	ELMOD3_ENST00000409013.3_Missense_Mutation_p.D198G|RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000315658.7_Missense_Mutation_p.D198G|ELMOD3_ENST00000393852.4_Missense_Mutation_p.D198G|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000428955.2_Missense_Mutation_p.D198G|ELMOD3_ENST00000409344.3_Missense_Mutation_p.D198G|RNU7-162P_ENST00000516669.1_RNA			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	198	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CACTGGGAGGACCTGGGCTTT	0.532																																						uc002spf.3		NA																	0				ovary(2)	2						c.(592-594)GAC>GGC		ELMO/CED-12 domain containing 3 isoform b							103.0	107.0	105.0					2																	85598671		2203	4300	6503	SO:0001583	missense	84173				phagocytosis	cytoskeleton		g.chr2:85598671A>G	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.593A>G	2.37:g.85598671A>G	ENSP00000386304:p.Asp198Gly					ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spg.3_Missense_Mutation_p.D198G|ELMOD3_uc002sph.3_Missense_Mutation_p.D198G|ELMOD3_uc010ysn.1_Missense_Mutation_p.D198G|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_Intron	p.D198G	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN			11	1258	+			198			ELMO.		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	c.593A>G	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401222	0.83120	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	6.07	6.07	0.98685	Engulfment/cell motility, ELMO (2);	0.322091	0.37483	N	0.002071	T	0.45276	0.1334	M	0.61703	1.905	0.46131	D	0.998889	D;D	0.56521	0.976;0.967	P;P	0.53266	0.6;0.722	T	0.41875	-0.9484	10	0.62326	D	0.03	-28.4504	14.5809	0.68288	1.0:0.0:0.0:0.0	.	198;198	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	G	198	ENSP00000386257:D198G;ENSP00000387139:D198G;ENSP00000386304:D198G;ENSP00000386248:D198G;ENSP00000377434:D198G;ENSP00000412692:D198G;ENSP00000318264:D198G	ENSP00000318264:D198G	D	+	2	0	ELMOD3	85452182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.335000	0.65929	2.326000	0.78906	0.533000	0.62120	GAC		0.532	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		15	98	0	0	0	0	15	98				
ANAPC1	64682	broad.mit.edu	37	2	112638323	112638323	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:112638323T>C	ENST00000341068.3	-	2	852	c.80A>G	c.(79-81)cAc>cGc	p.H27R	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	27					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTGCTTGCAGTGGTCTCGACC	0.468																																						uc002thi.2		NA																	0				skin(2)	2						c.(79-81)CAC>CGC		anaphase promoting complex subunit 1							83.0	80.0	81.0					2																	112638323		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112638323T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.80A>G	2.37:g.112638323T>C	ENSP00000339109:p.His27Arg					ANAPC1_uc002thj.2_Missense_Mutation_p.H17R	p.H27R	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			2	327	-			27					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.80A>G	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262977	0.59431	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.83	5.83	0.93111	.	0.000000	0.49916	U	0.000127	T	0.74619	0.3740	L	0.60455	1.87	0.58432	D	0.999997	D;D	0.89917	1.0;0.981	D;D	0.83275	0.996;0.966	T	0.70324	-0.4903	9	0.19590	T	0.45	-18.2451	15.8582	0.79000	0.0:0.0:0.0:1.0	.	27;27	F8WAS1;Q9H1A4	.;APC1_HUMAN	R	27	.	ENSP00000339109:H27R	H	-	2	0	ANAPC1	112354794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.399000	0.79935	2.217000	0.71921	0.477000	0.44152	CAC		0.468	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		9	57	0	0	0	0	9	57				
PTPN4	5775	broad.mit.edu	37	2	120712819	120712819	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:120712819C>G	ENST00000263708.2	+	20	2671	c.1900C>G	c.(1900-1902)Cag>Gag	p.Q634E	PTPN4_ENST00000544261.1_Missense_Mutation_p.Q267E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	634					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TAGTGTGCATCAGGATGACCA	0.398																																						uc002tmf.1		NA																	0				ovary(2)	2						c.(1900-1902)CAG>GAG		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						82.0	80.0	81.0					2																	120712819		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120712819C>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1900C>G	2.37:g.120712819C>G	ENSP00000263708:p.Gln634Glu					PTPN4_uc010flj.1_Missense_Mutation_p.Q347E|PTPN4_uc010yyr.1_Missense_Mutation_p.Q267E	p.Q634E	NM_002830	NP_002821	P29074	PTN4_HUMAN			20	2671	+			634					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1900C>G	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	2.851	-0.238333	0.05944	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.13089	2.62;2.62	5.62	5.62	0.85841	.	0.287809	0.37437	N	0.002081	T	0.06005	0.0156	N	0.05078	-0.115	0.30983	N	0.722322	B	0.19935	0.04	B	0.12156	0.007	T	0.12915	-1.0529	10	0.02654	T	1	.	12.9419	0.58350	0.0:0.9259:0.0:0.0741	.	634	P29074	PTN4_HUMAN	E	634;267	ENSP00000263708:Q634E;ENSP00000445841:Q267E	ENSP00000263708:Q634E	Q	+	1	0	PTPN4	120429289	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.454000	0.35178	2.642000	0.89623	0.555000	0.69702	CAG		0.398	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			12	94	0	0	0	0	12	94				
LRP1B	53353	broad.mit.edu	37	2	141027890	141027890	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:141027890T>A	ENST00000389484.3	-	86	14139	c.13168A>T	c.(13168-13170)Agc>Tgc	p.S4390C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4390	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTGACAGCTAGAGGCAATC	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13168-13170)AGC>TGC		low density lipoprotein-related protein 1B							118.0	101.0	106.0					2																	141027890		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141027890T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13168A>T	2.37:g.141027890T>A	ENSP00000374135:p.Ser4390Cys	TSP Lung(27;0.18)					p.S4390C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	86	14140	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4390			Extracellular (Potential).|EGF-like 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13168A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	31	5.085019	0.94100	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90732	-2.72	5.73	5.73	0.89815	.	0.059947	0.64402	U	0.000004	D	0.91915	0.7440	L	0.60455	1.87	0.48632	D	0.99968	D	0.61697	0.99	P	0.51487	0.671	D	0.92606	0.6095	10	0.66056	D	0.02	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	4390	Q9NZR2	LRP1B_HUMAN	C	4390;4328	ENSP00000374135:S4390C	ENSP00000374135:S4390C	S	-	1	0	LRP1B	140744360	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.655000	0.83696	2.302000	0.77476	0.533000	0.62120	AGC		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	111	0	0	0	0	7	111				
TTN	7273	broad.mit.edu	37	2	179596836	179596836	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:179596836A>C	ENST00000591111.1	-	55	16133	c.15909T>G	c.(15907-15909)aaT>aaG	p.N5303K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.N5620K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4376K|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12121	Ig-like 33.				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)			TGCCAGCCTCATTTTGGGCCT	0.468																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13126-13128)AAT>AAG		titin isoform N2-A							176.0	172.0	173.0					2																	179596836		1976	4162	6138	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596836A>C	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.15909T>G	2.37:g.179596836A>C	ENSP00000465570:p.Asn5303Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N1037K	p.N4376K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	13352	-			5303					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.13128T>G		.	.	.	.	.	.	.	.	.	.	A	9.602	1.129005	0.21041	.	.	ENSG00000155657	ENST00000342992	T	0.59638	0.25	6.17	0.314	0.15847	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79793	0.4507	H	0.99487	4.59	0.80722	D	1	D	0.53619	0.961	P	0.53224	0.721	T	0.83095	-0.0131	9	0.87932	D	0	.	9.9043	0.41366	0.6704:0.0:0.3296:0.0	.	5303	Q8WZ42	TITIN_HUMAN	K	4376	ENSP00000343764:N4376K	ENSP00000343764:N4376K	N	-	3	2	TTN	179305081	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.372000	0.34261	0.068000	0.16574	0.533000	0.62120	AAT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	225	0	0	0	0	19	225				
DNAH7	56171	broad.mit.edu	37	2	196825341	196825341	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:196825341C>T	ENST00000312428.6	-	18	2634	c.2534G>A	c.(2533-2535)tGt>tAt	p.C845Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	845	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAGGATTACAGATCACTTG	0.443																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(2533-2535)TGT>TAT		dynein, axonemal, heavy chain 7							140.0	140.0	140.0					2																	196825341		1925	4127	6052	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825341C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2534G>A	2.37:g.196825341C>T	ENSP00000311273:p.Cys845Tyr						p.C845Y	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			18	2635	-			845			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2534G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096146	0.76870	.	.	ENSG00000118997	ENST00000312428	T	0.60920	0.15	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	M	0.93808	3.46	0.80722	D	1	P	0.45428	0.858	P	0.53593	0.73	T	0.81777	-0.0777	10	0.51188	T	0.08	.	15.0521	0.71881	0.0:0.9303:0.0:0.0697	.	845	Q8WXX0	DYH7_HUMAN	Y	845	ENSP00000311273:C845Y	ENSP00000311273:C845Y	C	-	2	0	DNAH7	196533586	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	4.986000	0.63851	2.708000	0.92522	0.650000	0.86243	TGT		0.443	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		21	172	0	0	0	0	21	172				
PPIL3	53938	broad.mit.edu	37	2	201750420	201750420	+	Splice_Site	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:201750420C>T	ENST00000392283.4	-	3	347		c.e3+1		PPIL3_ENST00000409361.1_Splice_Site|PPIL3_ENST00000465823.1_Splice_Site|PPIL3_ENST00000409449.1_Splice_Site|PPIL3_ENST00000286175.8_Splice_Site	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3						mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|lung(2)	3						ATAGTACTTACCTCACATGTT	0.318																																						uc002uwh.2		NA																	0					0						c.e3+1		peptidylprolyl isomerase-like 3 isoform PPIL3b							138.0	131.0	133.0					2																	201750420		2203	4300	6503	SO:0001630	splice_region_variant	53938				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr2:201750420C>T	AF251049	CCDS2332.1, CCDS2333.1	2q33.1	2008-02-05			ENSG00000240344	ENSG00000240344			9262	protein-coding gene	gene with protein product	"""Cyclophilin J"""	615811				11435694	Standard	NM_032472		Approved	CyPJ	uc002uwi.3	Q9H2H8	OTTHUMG00000132782	ENST00000392283.4:c.78+1G>A	2.37:g.201750420C>T						PPIL3_uc002uwi.2_Splice_Site_p.E26_splice|PPIL3_uc002uwj.2_Splice_Site_p.E26_splice|PPIL3_uc002uwk.2_Splice_Site_p.E26_splice	p.E26_splice	NM_130906	NP_570981	Q9H2H8	PPIL3_HUMAN			3	319	-								Q86WF9|Q96IA9|Q9BXZ1	Splice_Site	SNP	ENST00000392283.4	37	c.78_splice	CCDS2333.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478078	0.84747	.	.	ENSG00000240344	ENST00000286175;ENST00000392283;ENST00000409264;ENST00000409361;ENST00000409449;ENST00000443398;ENST00000457063	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8338	0.92153	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPIL3	201458665	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.129000	0.77225	2.752000	0.94435	0.655000	0.94253	.		0.318	PPIL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256190.3		Intron	4	100	0	0	0	0	4	100				
NRSN2	80023	broad.mit.edu	37	20	333907	333907	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:333907C>T	ENST00000382291.3	+	4	483	c.243C>T	c.(241-243)acC>acT	p.T81T	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Silent_p.T81T	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	81						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CGGCTCTGACCACTGGCTATG	0.642																																						uc002wdi.3		NA																	0					0						c.(241-243)ACC>ACT		neurensin 2							101.0	95.0	97.0					20																	333907		2203	4300	6503	SO:0001819	synonymous_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333907C>T	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.243C>T	20.37:g.333907C>T						NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron	p.T81T	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN			4	781	+		all_cancers(10;0.0834)	81			Helical; (Potential).		A8K3B2|Q6FII5|Q9NUD3	Silent	SNP	ENST00000382291.3	37	c.243C>T	CCDS12996.1																																																																																				0.642	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		20	125	0	0	0	0	20	125				
CST1	1469	broad.mit.edu	37	20	23731351	23731351	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:23731351G>A	ENST00000304749.2	-	1	223	c.153C>T	c.(151-153)gcC>gcT	p.A51A	CST1_ENST00000398402.1_Silent_p.A51A	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	51					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ACTCGCTGATGGCGAAGTGAA	0.577																																						uc002wtp.2		NA																	0				ovary(1)	1						c.(151-153)GCC>GCT		cystatin SN precursor							173.0	142.0	153.0					20																	23731351		2203	4300	6503	SO:0001819	synonymous_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23731351G>A	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.153C>T	20.37:g.23731351G>A							p.A51A	NM_001898	NP_001889	P01037	CYTN_HUMAN			1	224	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		51					Q96LE6|Q9UCQ6	Silent	SNP	ENST00000304749.2	37	c.153C>T	CCDS13160.1																																																																																				0.577	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		22	95	0	0	0	0	22	95				
BPIFB1	92747	broad.mit.edu	37	20	31887714	31887714	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:31887714C>A	ENST00000253354.1	+	8	832	c.671C>A	c.(670-672)tCc>tAc	p.S224Y	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	224					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GTGCCCATTTCCCTCAGCATT	0.557											OREG0025869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002wyw.1		NA																	0				central_nervous_system(2)|skin(2)	4						c.(670-672)TCC>TAC		LPLUNC1 protein precursor							199.0	139.0	159.0					20																	31887714		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31887714C>A	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.671C>A	20.37:g.31887714C>A	ENSP00000253354:p.Ser224Tyr		OREG0025869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	828	C20orf114_uc002wyx.1_5'Flank	p.S224Y	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			8	832	+			224					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.671C>A	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503769	0.44558	.	.	ENSG00000125999	ENST00000253354;ENST00000375378	T	0.04758	3.56	5.6	0.36	0.16097	.	0.785759	0.11506	N	0.557182	T	0.05914	0.0154	M	0.62723	1.935	0.09310	N	1	P	0.35383	0.498	B	0.31191	0.125	T	0.25257	-1.0137	10	0.51188	T	0.08	-0.693	7.984	0.30200	0.0:0.5802:0.0:0.4198	.	224	Q8TDL5	BPIB1_HUMAN	Y	224;55	ENSP00000253354:S224Y	ENSP00000253354:S224Y	S	+	2	0	BPIFB1	31351375	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.175000	0.16762	-0.076000	0.12775	0.561000	0.74099	TCC		0.557	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		19	114	1	0	6.45e-10	7.63e-10	19	114				
TRPC4AP	26133	broad.mit.edu	37	20	33588219	33588219	+	IGR	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:33588219G>T	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.Q1677H			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.Q1677H(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGGAGCTGCAGCTGGGCCATG	0.672																																						uc002xbi.1		NA																	1	Substitution - Missense(1)		ovary(1)	ovary(1)|breast(1)	2						c.(5029-5031)CAG>CAT		myosin, heavy polypeptide 7B, cardiac muscle,							24.0	28.0	27.0					20																	33588219		2148	4241	6389	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588219G>T	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588219G>T							p.Q1677H	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		37	5123	+			1635			Potential.		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.5031G>T	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364381	0.41902	.	.	ENSG00000078814	ENST00000262873	D	0.85171	-1.95	4.07	3.11	0.35812	Myosin tail (1);	0.000000	0.35936	N	0.002898	D	0.82788	0.5113	M	0.75447	2.3	0.37297	D	0.908519	B	0.15141	0.012	B	0.16722	0.016	D	0.84109	0.0400	10	0.72032	D	0.01	.	9.1708	0.37081	0.1732:0.0:0.8268:0.0	.	1635	A7E2Y1	MYH7B_HUMAN	H	1677	ENSP00000262873:Q1677H	ENSP00000262873:Q1677H	Q	+	3	2	MYH7B	33051880	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.223000	0.51231	2.272000	0.75746	0.558000	0.71614	CAG		0.672	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		5	58	1	0	0.000602214	0.000659027	5	58				
NPEPL1	79716	broad.mit.edu	37	20	57268962	57268962	+	Missense_Mutation	SNP	C	C	A	rs565632114	byFrequency	TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:57268962C>A	ENST00000356091.6	+	2	608	c.320C>A	c.(319-321)gCg>gAg	p.A107E	NPEPL1_ENST00000525817.1_Missense_Mutation_p.A59E|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.A79E	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	107						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCGCCCGGAGCGCATCGCTGC	0.706																																						uc010zzs.1		NA																	0					0						c.(319-321)GCG>GAG		aminopeptidase-like 1							12.0	14.0	13.0					20																	57268962		2142	4229	6371	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57268962C>A	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.320C>A	20.37:g.57268962C>A	ENSP00000348395:p.Ala107Glu					NPEPL1_uc010zzr.1_Missense_Mutation_p.A59E|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.A79E|NPEPL1_uc002xzp.2_5'UTR	p.A107E	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		2	415	+	all_lung(29;0.0175)		107					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.320C>A	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	C	2.136	-0.397947	0.04865	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.29397	1.57;1.58;1.58	4.97	4.03	0.46877	.	0.558769	0.21289	N	0.077004	T	0.16854	0.0405	N	0.25647	0.755	0.09310	N	1	B;B;B	0.12013	0.0;0.0;0.005	B;B;B	0.08055	0.002;0.003;0.002	T	0.30327	-0.9982	10	0.02654	T	1	-26.5791	9.2127	0.37328	0.0:0.8135:0.0:0.1865	.	107;59;79	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	E	79;59;107	ENSP00000434810:A79E;ENSP00000437112:A59E;ENSP00000348395:A107E	ENSP00000348395:A107E	A	+	2	0	NPEPL1	56702369	0.016000	0.18221	0.170000	0.22879	0.363000	0.29612	1.224000	0.32539	1.089000	0.41292	-0.422000	0.05995	GCG		0.706	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		4	12	1	0	0.00909568	0.00965029	4	12				
LAMA5	3911	broad.mit.edu	37	20	60906173	60906173	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr20:60906173G>A	ENST00000252999.3	-	29	3631	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1189	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATGGGCACCAGAGTGACCCCG	0.657																																						uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3565-3567)CTG>TTG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						23.0	24.0	24.0					20																	60906173		2199	4296	6495	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60906173G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3565C>T	20.37:g.60906173G>A							p.L1189L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		29	3632	-	Breast(26;1.57e-08)		1189			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.3565C>T	CCDS33502.1																																																																																				0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	16	0	0	0	0	3	16				
SLC5A3	6526	broad.mit.edu	37	21	35468451	35468451	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr21:35468451G>A	ENST00000381151.3	+	2	1466	c.954G>A	c.(952-954)atG>atA	p.M318I	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.M318I			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	318					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCCCAGGAATGATTTCCAGGA	0.463																																						uc002yto.2		NA																	0				ovary(2)	2						c.(952-954)ATG>ATA		solute carrier family 5 (inositol transporters),							114.0	118.0	117.0					21																	35468451		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468451G>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.954G>A	21.37:g.35468451G>A	ENSP00000370543:p.Met318Ile					MRPS6_uc002ytp.2_Intron	p.M318I	NM_006933	NP_008864	P53794	SC5A3_HUMAN			2	1466	+			318			Helical; (Potential).		O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.954G>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887665	0.72410	.	.	ENSG00000198743	ENST00000381151	D	0.88741	-2.42	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	L	0.28556	0.865	0.58432	D	0.999996	D	0.52996	0.957	P	0.52646	0.705	D	0.90242	0.4287	10	0.87932	D	0	.	18.354	0.90351	0.0:0.0:1.0:0.0	.	318	P53794	SC5A3_HUMAN	I	318	ENSP00000370543:M318I	ENSP00000370543:M318I	M	+	3	0	SLC5A3	34390321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.624000	0.88883	0.655000	0.94253	ATG		0.463	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			14	192	0	0	0	0	14	192				
HIRA	7290	broad.mit.edu	37	22	19340889	19340889	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:19340889G>A	ENST00000263208.5	-	23	3094	c.2838C>T	c.(2836-2838)ctC>ctT	p.L946L	HIRA_ENST00000340170.4_Silent_p.L739L|HIRA_ENST00000541063.1_Silent_p.L902L|HIRA_ENST00000546308.1_3'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	946	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTTCGTTTACGAGGTACCGTG	0.597																																						uc002zpf.1		NA																	0				ovary(1)	1						c.(2836-2838)CTC>CTT		HIR histone cell cycle regulation defective							77.0	51.0	60.0					22																	19340889		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19340889G>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2838C>T	22.37:g.19340889G>A						HIRA_uc011agx.1_Silent_p.L812L|HIRA_uc010grn.1_Silent_p.L739L|HIRA_uc010gro.1_Silent_p.L902L|HIRA_uc010grp.2_RNA	p.L946L	NM_003325	NP_003316	P54198	HIRA_HUMAN			23	3058	-	Colorectal(54;0.0993)		946			Interaction with histone H4.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.2838C>T	CCDS13759.1																																																																																				0.597	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		6	21	0	0	0	0	6	21				
MCM5	4174	broad.mit.edu	37	22	35812693	35812693	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:35812693C>G	ENST00000216122.4	+	12	1630	c.1476C>G	c.(1474-1476)ttC>ttG	p.F492L	MCM5_ENST00000382011.5_Missense_Mutation_p.F449L	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	492	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.F492F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACTCAGTGTTCGGCCGCTGGG	0.577																																						uc003anu.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(1474-1476)TTC>TTG		minichromosome maintenance complex component 5							98.0	79.0	86.0					22																	35812693		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35812693C>G		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1476C>G	22.37:g.35812693C>G	ENSP00000216122:p.Phe492Leu					MCM5_uc010gwr.2_Missense_Mutation_p.F301L|MCM5_uc003anv.3_Missense_Mutation_p.F449L|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Missense_Mutation_p.F276L	p.F492L	NM_006739	NP_006730	P33992	MCM5_HUMAN			12	1570	+			492			MCM.		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1476C>G	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217946	0.79352	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.07688	3.17;3.17	5.77	-7.51	0.01346	.	0.149603	0.64402	D	0.000009	T	0.16257	0.0391	M	0.75777	2.31	0.48040	D	0.999571	P;P;P;P	0.39216	0.664;0.664;0.664;0.664	P;P;P;P	0.47673	0.554;0.554;0.554;0.554	T	0.21415	-1.0246	10	0.72032	D	0.01	-9.5053	18.9249	0.92540	0.0:0.2195:0.0:0.7805	.	492;492;449;492	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	L	492;449	ENSP00000216122:F492L;ENSP00000371441:F449L	ENSP00000216122:F492L	F	+	3	2	MCM5	34142693	0.001000	0.12720	0.744000	0.31058	0.970000	0.65996	-1.915000	0.01578	-1.298000	0.02348	-1.003000	0.02500	TTC		0.577	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			3	96	0	0	0	0	3	96				
APOL6	80830	broad.mit.edu	37	22	36054943	36054943	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr22:36054943C>T	ENST00000409652.4	+	3	608	c.332C>T	c.(331-333)aCc>aTc	p.T111I		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	111					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CTGCTCTCCACCGCTGGTCAA	0.572																																						uc003aoe.2		NA																	0					0						c.(331-333)ACC>ATC		apolipoprotein L6							64.0	60.0	61.0					22																	36054943		2203	4300	6503	SO:0001583	missense	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36054943C>T	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.332C>T	22.37:g.36054943C>T	ENSP00000386280:p.Thr111Ile					APOL6_uc003aod.2_RNA	p.T111I	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN			3	626	+			111					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	c.332C>T	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	C	9.418	1.082386	0.20309	.	.	ENSG00000221963	ENST00000409652	T	0.03212	4.01	4.14	-0.609	0.11608	.	0.766622	0.12396	N	0.472571	T	0.03348	0.0097	L	0.33485	1.01	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.39482	-0.9612	10	0.45353	T	0.12	-0.6862	8.5068	0.33193	0.0:0.465:0.4483:0.0867	.	111	Q9BWW8	APOL6_HUMAN	I	111	ENSP00000386280:T111I	ENSP00000386280:T111I	T	+	2	0	APOL6	34384889	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.246000	0.08878	-0.071000	0.12886	-1.774000	0.00658	ACC		0.572	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		6	69	0	0	0	0	6	69				
PTPN23	25930	broad.mit.edu	37	3	47453167	47453167	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:47453167G>C	ENST00000265562.4	+	20	3956	c.3879G>C	c.(3877-3879)gaG>gaC	p.E1293D	PTPN23_ENST00000431726.1_Missense_Mutation_p.E1167D	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1293	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGAGGCTGAGATGGAGAAGG	0.587																																						uc003crf.1		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(3877-3879)GAG>GAC		protein tyrosine phosphatase, non-receptor type							40.0	40.0	40.0					3																	47453167		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47453167G>C	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3879G>C	3.37:g.47453167G>C	ENSP00000265562:p.Glu1293Asp					PTPN23_uc011baw.1_Missense_Mutation_p.E1258D|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.E1163D|uc003cri.2_5'Flank	p.E1293D	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	3975	+			1293			Tyrosine-protein phosphatase.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.3879G>C	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620627	0.66787	.	.	ENSG00000076201	ENST00000265562	T	0.22336	1.96	4.62	4.62	0.57501	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.83118	2.625	0.49213	D	0.999768	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58538	-0.7619	10	0.87932	D	0	-30.2319	16.3982	0.83630	0.0:0.0:1.0:0.0	.	1167;1293	B4DST5;Q9H3S7	.;PTN23_HUMAN	D	1293	ENSP00000265562:E1293D	ENSP00000265562:E1293D	E	+	3	2	PTPN23	47428171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.749000	0.47492	2.389000	0.81357	0.563000	0.77884	GAG		0.587	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		7	50	0	0	0	0	7	50				
RNF123	63891	broad.mit.edu	37	3	49724469	49724469	+	5'Flank	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:49724469G>A	ENST00000327697.6	+	0	0				MST1_ENST00000545762.1_Missense_Mutation_p.T161I|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000383728.3_Silent_p.Y138Y|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Silent_p.Y213Y|MST1_ENST00000494828.2_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCGCGCCGCGGTATTCCTCGC	0.657																																						uc003cxg.2		NA																	0				lung(1)	1						c.(637-639)TAC>TAT		macrophage stimulating 1 (hepatocyte growth							33.0	39.0	37.0					3																	49724469		2182	4264	6446	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724469G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724469G>A	Exception_encountered					MST1_uc011bcs.1_Silent_p.Y213Y|MST1_uc010hkx.2_Silent_p.Y134Y|MST1_uc011bct.1_Silent_p.Y213Y|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	p.Y213Y	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	711	-			199			Kringle 2.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.639C>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469216	0.84533	.	.	ENSG00000173531	ENST00000545762	T	0.50277	0.75	5.66	0.658	0.17855	.	.	.	.	.	T	0.40448	0.1117	.	.	.	0.28458	N	0.916029	.	.	.	.	.	.	T	0.36841	-0.9731	5	.	.	.	.	9.759	0.40522	0.353:0.0:0.647:0.0	.	.	.	.	I	161	ENSP00000437535:T161I	.	T	-	2	0	MST1	49699473	1.000000	0.71417	0.995000	0.50966	0.902000	0.53008	2.212000	0.42835	0.305000	0.22832	0.591000	0.81541	ACC		0.657	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		7	100	0	0	0	0	7	100				
GNAI2	2771	broad.mit.edu	37	3	50290578	50290578	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:50290578C>T	ENST00000313601.6	+	4	810	c.426C>T	c.(424-426)ggC>ggT	p.G142G	GNAI2_ENST00000266027.5_Silent_p.G126G|GNAI2_ENST00000451956.1_Silent_p.G105G|GNAI2_ENST00000536647.1_Silent_p.G61G|GNAI2_ENST00000440628.1_Silent_p.G90G|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Silent_p.G126G	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	142					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CCTGCTTTGGCCGCTCAAGGG	0.652																																						uc003cyq.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(424-426)GGC>GGT		guanine nucleotide binding protein (G protein),							168.0	156.0	160.0					3																	50290578		2203	4300	6503	SO:0001819	synonymous_variant	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50290578C>T	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.426C>T	3.37:g.50290578C>T						GNAI2_uc003cyo.1_Silent_p.G126G|GNAI2_uc003cyp.1_Silent_p.G126G|GNAI2_uc010hlg.1_Silent_p.G61G|GNAI2_uc011bdn.1_Silent_p.G105G|GNAI2_uc003cyr.1_Silent_p.G61G	p.G142G	NM_002070	NP_002061	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	4	547	+			142					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Silent	SNP	ENST00000313601.6	37	c.426C>T	CCDS2813.1																																																																																				0.652	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		4	304	0	0	0	0	4	304				
NISCH	11188	broad.mit.edu	37	3	52526308	52526308	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:52526308T>C	ENST00000479054.1	+	22	4397	c.4325T>C	c.(4324-4326)cTc>cCc	p.L1442P	NISCH_ENST00000345716.4_Missense_Mutation_p.L1442P			Q9Y2I1	NISCH_HUMAN	nischarin	1442					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GGTCATGACCTCATGGGCAGT	0.652																																						uc011beg.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4324-4326)CTC>CCC		nischarin							153.0	153.0	153.0					3																	52526308		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526308T>C	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4325T>C	3.37:g.52526308T>C	ENSP00000418232:p.Leu1442Pro					NISCH_uc003ded.3_Missense_Mutation_p.L1442P|NISCH_uc003dee.3_Missense_Mutation_p.L931P|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.L191P	p.L1442P	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	22	4397	+			1442					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4325T>C	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187186	0.78789	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.16196	2.36;2.36	5.37	5.37	0.77165	.	0.078630	0.51477	D	0.000098	T	0.29976	0.0750	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.06789	-1.0807	10	0.87932	D	0	-30.3479	15.378	0.74630	0.0:0.0:0.0:1.0	.	1442	Q9Y2I1	NISCH_HUMAN	P	1442;1442;366;786	ENSP00000418232:L1442P;ENSP00000339958:L1442P	ENSP00000339958:L1442P	L	+	2	0	NISCH	52501348	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.373000	0.79623	2.051000	0.60960	0.459000	0.35465	CTC		0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		4	297	0	0	0	0	4	297				
C3orf30	152405	broad.mit.edu	37	3	118866242	118866242	+	Silent	SNP	C	C	T	rs551734199	byFrequency	TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:118866242C>T	ENST00000295622.1	+	1	1246	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_Silent_p.L7L	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	402										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGTAGACCTCAATTCCAAGC	0.448																																						uc003ecb.1		NA																	0				ovary(2)	2						c.(1204-1206)CTC>CTT		hypothetical protein LOC152405							125.0	116.0	119.0					3																	118866242		2203	4300	6503	SO:0001819	synonymous_variant	152405							g.chr3:118866242C>T	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1206C>T	3.37:g.118866242C>T						IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.L402L	p.L402L	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	1246	+			402					A1L4B7	Silent	SNP	ENST00000295622.1	37	c.1206C>T	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	C	3.440	-0.114246	0.06881	.	.	ENSG00000163424	ENST00000460150;ENST00000473121;ENST00000492792	.	.	.	4.49	0.646	0.17789	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6868	3.3358	0.07101	0.1671:0.4159:0.3244:0.0926	.	.	.	.	X	366;195;137	.	.	Q	+	1	0	C3orf30	120348932	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.392000	0.07314	0.103000	0.17682	0.655000	0.94253	CAA		0.448	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		16	82	0	0	0	0	16	82				
SLITRK3	22865	broad.mit.edu	37	3	164906642	164906642	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:164906642G>T	ENST00000475390.1	-	2	2420	c.1977C>A	c.(1975-1977)agC>agA	p.S659R	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S659R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	659					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAACCAGCAGGCTGAGAATTA	0.532										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(1975-1977)AGC>AGA		slit and trk like 3 protein precursor							41.0	43.0	43.0					3																	164906642		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906642G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1977C>A	3.37:g.164906642G>T	ENSP00000420091:p.Ser659Arg	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.S659R	p.S659R	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2421	-			659			Helical; (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1977C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106648	0.56291	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.60424	0.19;0.19	4.85	3.06	0.35304	.	0.000000	0.45126	D	0.000383	T	0.68439	0.3001	M	0.69823	2.125	0.48975	D	0.999738	D	0.65815	0.995	D	0.70487	0.969	T	0.69277	-0.5187	10	0.72032	D	0.01	-16.8512	5.5321	0.16990	0.3395:0.0:0.6605:0.0	.	659	O94933	SLIK3_HUMAN	R	659	ENSP00000420091:S659R;ENSP00000241274:S659R	ENSP00000241274:S659R	S	-	3	2	SLITRK3	166389336	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	1.739000	0.38217	1.397000	0.46682	-0.123000	0.14984	AGC		0.532	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		6	46	1	0	0.00198382	0.00215068	6	46				
MFSD7	84179	broad.mit.edu	37	4	680361	680361	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:680361G>A	ENST00000404286.2	-	2	269	c.254C>T	c.(253-255)gCg>gTg	p.A85V	MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000322224.4_Missense_Mutation_p.A85V|MFSD7_ENST00000347950.5_Missense_Mutation_p.A63V|MFSD7_ENST00000503156.1_Missense_Mutation_p.A21V|MFSD7_ENST00000515118.1_Missense_Mutation_p.A85V	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	85					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CCAGATGGCCGCCACGCCAAA	0.642																																						uc003gay.2		NA																	0					0						c.(253-255)GCG>GTG		major facilitator superfamily domain containing							104.0	92.0	96.0					4																	680361		2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:680361G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.254C>T	4.37:g.680361G>A	ENSP00000384616:p.Ala85Val					MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.A85V|MFSD7_uc003gaz.2_Missense_Mutation_p.A63V|MFSD7_uc003gba.2_Missense_Mutation_p.A85V|MFSD7_uc003gbb.1_Missense_Mutation_p.A21V	p.A85V	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			2	311	-			85			Helical; (Potential).		A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.254C>T		.	.	.	.	.	.	.	.	.	.	g	0.021	-1.429015	0.01117	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000512249;ENST00000507165	T;T;T;T;T;T;T	0.56611	0.46;0.57;0.57;0.46;0.57;0.45;0.57	4.62	-7.5	0.01351	Major facilitator superfamily domain, general substrate transporter (1);	0.749043	0.12098	N	0.499752	T	0.18045	0.0433	N	0.01668	-0.77	0.09310	N	1	B;B;B;B;B	0.13145	0.007;0.003;0.003;0.001;0.0	B;B;B;B;B	0.13407	0.009;0.001;0.001;0.002;0.001	T	0.32428	-0.9907	10	0.14252	T	0.57	-0.0141	10.7575	0.46245	0.2331:0.1125:0.6543:0.0	.	21;85;63;85;85	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	V	63;85;85;85;21;85;21	ENSP00000307545:A63V;ENSP00000320234:A85V;ENSP00000384616:A85V;ENSP00000423204:A85V;ENSP00000425753:A21V;ENSP00000425038:A85V;ENSP00000424556:A21V	ENSP00000320234:A85V	A	-	2	0	MFSD7	670361	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.257000	0.02866	-2.273000	0.00681	-3.198000	0.00054	GCG		0.642	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		3	83	0	0	0	0	3	83				
WDR19	57728	broad.mit.edu	37	4	39217727	39217727	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:39217727C>G	ENST00000399820.3	+	12	1300	c.1146C>G	c.(1144-1146)atC>atG	p.I382M	WDR19_ENST00000506503.1_Missense_Mutation_p.I382M|WDR19_ENST00000288634.7_Missense_Mutation_p.I222M	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	382					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						AGCTACCAATCACAGTTTCTG	0.323																																						uc003gtv.2		NA																	0				large_intestine(1)	1						c.(1144-1146)ATC>ATG		WD repeat domain 19							85.0	75.0	78.0					4																	39217727		1813	4074	5887	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39217727C>G	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1146C>G	4.37:g.39217727C>G	ENSP00000382717:p.Ile382Met					WDR19_uc003gtu.1_Missense_Mutation_p.I382M|WDR19_uc011byi.1_Missense_Mutation_p.I222M|WDR19_uc003gtw.1_Translation_Start_Site	p.I382M	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			12	1300	+			382					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.1146C>G	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151571	0.21371	.	.	ENSG00000157796	ENST00000399820;ENST00000288634;ENST00000506503;ENST00000399836	D;D;T	0.95853	-3.83;-3.83;1.19	5.46	1.81	0.25067	WD40 repeat-like-containing domain (1);	0.288499	0.38164	N	0.001786	D	0.90494	0.7022	L	0.41824	1.3	0.40211	D	0.977629	B;B	0.21821	0.061;0.035	B;B	0.25614	0.062;0.043	T	0.82382	-0.0485	10	0.33141	T	0.24	-6.484	5.959	0.19289	0.1195:0.4868:0.0:0.3937	.	382;382	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	M	382;222;382;381	ENSP00000382717:I382M;ENSP00000288634:I222M;ENSP00000423491:I382M	ENSP00000288634:I222M	I	+	3	3	WDR19	38894122	0.904000	0.30761	0.872000	0.34217	0.778000	0.44026	0.123000	0.15708	0.287000	0.22375	0.655000	0.94253	ATC		0.323	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			2	11	0	0	0	0	2	11				
RASGEF1B	153020	broad.mit.edu	37	4	82355102	82355102	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:82355102C>T	ENST00000264400.2	-	12	1367	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.A405T|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.A364T	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	406	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACTTGTTTGGCCAGTTCCCAA	0.368																																						uc003hmi.1		NA																	0					0						c.(1216-1218)GCC>ACC		RasGEF domain family, member 1B							168.0	160.0	163.0					4																	82355102		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82355102C>T	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1216G>A	4.37:g.82355102C>T	ENSP00000264400:p.Ala406Thr					RASGEF1B_uc003hmj.1_Missense_Mutation_p.A405T|RASGEF1B_uc010ijq.1_Missense_Mutation_p.A364T	p.A406T	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			12	1360	-			406			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.1216G>A	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045147	0.93685	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927	T;T;T	0.34667	1.35;1.35;1.35	4.95	4.95	0.65309	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.73753	2.245	0.80722	D	1	P;P;P	0.39094	0.659;0.521;0.529	P;P;B	0.49332	0.607;0.508;0.403	T	0.59236	-0.7492	10	0.87932	D	0	.	17.9574	0.89073	0.0:1.0:0.0:0.0	.	364;405;406	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	T	405;406;364	ENSP00000425393:A405T;ENSP00000264400:A406T;ENSP00000338437:A364T	ENSP00000264400:A406T	A	-	1	0	RASGEF1B	82574126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.558000	0.67319	2.584000	0.87258	0.585000	0.79938	GCC		0.368	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		4	248	0	0	0	0	4	248				
CENPE	1062	broad.mit.edu	37	4	104062022	104062022	+	Silent	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:104062022G>C	ENST00000265148.3	-	36	5792	c.5703C>G	c.(5701-5703)ctC>ctG	p.L1901L	CENPE_ENST00000380026.3_Silent_p.L1876L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1901					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTCCAGTTTGAGTGTCTCCT	0.368																																						uc003hxb.1		NA																	0				ovary(5)|breast(4)	9						c.(5701-5703)CTC>CTG		centromere protein E							144.0	128.0	134.0					4																	104062022		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104062022G>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5703C>G	4.37:g.104062022G>C						CENPE_uc003hxc.1_Silent_p.L1876L|CENPE_uc003hxd.1_5'Flank	p.L1901L	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	36	5793	-			1901			Potential.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.5703C>G	CCDS34042.1																																																																																				0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	127	0	0	0	0	7	127				
ZGRF1	55345	broad.mit.edu	37	4	113540216	113540216	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr4:113540216C>A	ENST00000505019.1	-	6	1107	c.982G>T	c.(982-984)Gcc>Tcc	p.A328S	C4orf21_ENST00000309071.5_Missense_Mutation_p.A328S|C4orf21_ENST00000445203.2_Missense_Mutation_p.A297S	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		328						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAATACATGGCCCACCGGCTT	0.398																																						uc003iau.2		NA																	0					0						c.(982-984)GCC>TCC		prematurely terminated mRNA decay factor-like							74.0	79.0	77.0					4																	113540216		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113540216C>A																												ENST00000505019.1:c.982G>T	4.37:g.113540216C>A	ENSP00000424737:p.Ala328Ser					C4orf21_uc003iaw.2_Missense_Mutation_p.A328S	p.A328S	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1193	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.982G>T		.	.	.	.	.	.	.	.	.	.	C	14.33	2.504321	0.44558	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.84146	-1.81;1.71;1.28	5.38	4.54	0.55810	.	0.351885	0.24059	N	0.041930	T	0.77624	0.4158	L	0.36672	1.1	0.28522	N	0.913032	P;P	0.42456	0.78;0.775	B;B	0.39660	0.265;0.306	T	0.68716	-0.5335	10	0.19147	T	0.46	-4.583	12.4772	0.55821	0.0:0.8587:0.0:0.1413	.	328;328	Q86YA3;G5EA02	CD021_HUMAN;.	S	328;328;297	ENSP00000424737:A328S;ENSP00000309095:A328S;ENSP00000390505:A297S	ENSP00000309095:A328S	A	-	1	0	C4orf21	113759665	0.997000	0.39634	0.994000	0.49952	0.963000	0.63663	0.663000	0.25053	1.253000	0.44018	0.557000	0.71058	GCC		0.398	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			28	136	1	0	1.77e-15	2.14e-15	28	136				
ERCC8	1161	broad.mit.edu	37	5	60199489	60199489	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:60199489G>A	ENST00000265038.5	-	6	578	c.536C>T	c.(535-537)tCt>tTt	p.S179F	ERCC8_ENST00000543101.1_Missense_Mutation_p.S26F|ERCC8_ENST00000426742.2_Missense_Mutation_p.S121F|ERCC8_ENST00000462279.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	179					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TAGAATGTGAGAACAGGATCC	0.328																																						uc003jsm.3		NA																	0					0						c.(535-537)TCT>TTT	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							73.0	77.0	76.0					5																	60199489		2203	4300	6503	SO:0001583	missense	1161				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding	g.chr5:60199489G>A	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.536C>T	5.37:g.60199489G>A	ENSP00000265038:p.Ser179Phe					ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.S121F|ERCC8_uc011cqp.1_Missense_Mutation_p.S26F|ERCC8_uc003jsn.3_Missense_Mutation_p.S179F	p.S179F	NM_000082	NP_000073	Q13216	ERCC8_HUMAN			6	606	-		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)	179					B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP	ENST00000265038.5	37	c.536C>T	CCDS3978.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093391	0.56075	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596;ENST00000439176	T;T;T;T	0.63580	0.2;0.2;0.2;-0.05	6.03	4.2	0.49525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.157156	0.64402	D	0.000020	T	0.50854	0.1640	N	0.16708	0.43	0.50632	D	0.999889	P;P;P	0.49696	0.559;0.927;0.665	B;P;B	0.46850	0.193;0.529;0.34	T	0.52866	-0.8518	10	0.52906	T	0.07	-14.4795	11.7992	0.52118	0.0:0.1331:0.7282:0.1387	.	26;179;179	B4DGZ9;Q13216-2;Q13216	.;.;ERCC8_HUMAN	F	121;179;26;178;121	ENSP00000400110:S121F;ENSP00000265038:S179F;ENSP00000441732:S26F;ENSP00000408344:S121F	ENSP00000265038:S179F	S	-	2	0	ERCC8	60235246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.477000	0.53151	0.831000	0.34780	0.555000	0.69702	TCT		0.328	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082		8	96	0	0	0	0	8	96				
GABRB2	2561	broad.mit.edu	37	5	160721372	160721372	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr5:160721372C>G	ENST00000393959.1	-	10	1254	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	GABRB2_ENST00000274547.2_Missense_Mutation_p.E419Q|GABRB2_ENST00000517901.1_Missense_Mutation_p.E318Q|GABRB2_ENST00000353437.6_Missense_Mutation_p.E381Q|GABRB2_ENST00000520240.1_Missense_Mutation_p.E381Q|GABRB2_ENST00000517547.1_Missense_Mutation_p.E221Q			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	419					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCACAGCCTCAGATGTGGCC	0.478																																						uc003lys.1		NA																	0					0						c.(1255-1257)GAG>CAG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						109.0	105.0	107.0					5																	160721372		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721372C>G		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1255G>C	5.37:g.160721372C>G	ENSP00000377531:p.Glu419Gln					GABRB2_uc011deh.1_Missense_Mutation_p.E220Q|GABRB2_uc003lyr.1_Missense_Mutation_p.E381Q|GABRB2_uc003lyt.1_Missense_Mutation_p.E381Q|GABRB2_uc010jiu.1_Missense_Mutation_p.E318Q	p.E419Q	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1473	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	419			Cytoplasmic (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1255G>C	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789775	0.70337	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.85629	-2.01;-2.01;-1.89;-1.89;-1.89;-1.89	5.23	5.23	0.72850	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.723590	0.02815	N	0.124888	D	0.90120	0.6913	L	0.42744	1.35	0.80722	D	1	B;B;D;B	0.53151	0.299;0.036;0.958;0.249	B;B;P;B	0.55749	0.123;0.062;0.783;0.271	T	0.78147	-0.2317	10	0.40728	T	0.16	.	18.7855	0.91952	0.0:1.0:0.0:0.0	.	221;318;419;381	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	Q	419;419;381;381;318;221	ENSP00000377531:E419Q;ENSP00000274547:E419Q;ENSP00000274546:E381Q;ENSP00000429320:E381Q;ENSP00000430532:E318Q;ENSP00000429750:E221Q	ENSP00000274547:E419Q	E	-	1	0	GABRB2	160653950	1.000000	0.71417	0.912000	0.35992	0.961000	0.63080	4.752000	0.62176	2.432000	0.82394	0.650000	0.86243	GAG		0.478	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			9	123	0	0	0	0	9	123				
SYNGAP1	8831	broad.mit.edu	37	6	33419553	33419553	+	Missense_Mutation	SNP	C	C	T	rs199694815		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:33419553C>T	ENST00000418600.2	+	19	4003	c.3902C>T	c.(3901-3903)cCc>cTc	p.P1301L	ZBTB9_ENST00000395064.2_5'Flank|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P1242L|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1301					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAGCTTCCCCCCTTGGGTCCA	0.652																																						uc011dri.1		NA																	0				ovary(4)	4						c.(3901-3903)CCC>CTC		synaptic Ras GTPase activating protein 1							32.0	27.0	29.0					6																	33419553		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33419553C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3902C>T	6.37:g.33419553C>T	ENSP00000403636:p.Pro1301Leu					ZBTB9_uc003oeq.2_5'Flank|SYNGAP1_uc010juy.2_Missense_Mutation_p.P1270L|SYNGAP1_uc010juz.2_3'UTR	p.P1301L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			19	4097	+			1301					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.3902C>T	CCDS34434.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.17|13.17	2.157035|2.157035	0.38119|0.38119	.|.	.|.	ENSG00000197283|ENSG00000197283	ENST00000418600;ENST00000428982|ENST00000449372	T;T|.	0.10860|.	2.83;2.83|.	3.48|3.48	3.48|3.48	0.39840|0.39840	.|.	0.000000|0.000000	0.36034|0.36034	N|N	0.002825|0.002825	T|T	0.41766|0.41766	0.1173|0.1173	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B|.	0.16396|.	0.017|.	B|.	0.20184|.	0.028|.	T|T	0.53129|0.53129	-0.8482|-0.8482	10|7	0.72032|0.87932	D|D	0.01|0	.|.	12.8547|12.8547	0.57878|0.57878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1301|.	Q96PV0|.	SYGP1_HUMAN|.	L|S	1301;1242|1285	ENSP00000403636:P1301L;ENSP00000412475:P1242L|.	ENSP00000403636:P1301L|ENSP00000416519:P1285S	P|P	+|+	2|1	0|0	SYNGAP1|SYNGAP1	33527531|33527531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.479000|4.479000	0.60236|0.60236	1.960000|1.960000	0.56953|0.56953	0.400000|0.400000	0.26472|0.26472	CCC|CCT		0.652	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		4	24	0	0	0	0	4	24				
TRERF1	55809	broad.mit.edu	37	6	42235962	42235962	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:42235962G>T	ENST00000372922.4	-	5	1929	c.1367C>A	c.(1366-1368)cCc>cAc	p.P456H	TRERF1_ENST00000372917.4_Missense_Mutation_p.P456H|TRERF1_ENST00000541110.1_Missense_Mutation_p.P456H|TRERF1_ENST00000354325.2_Missense_Mutation_p.P456H|TRERF1_ENST00000340840.2_Missense_Mutation_p.P456H	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	456	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GATCCCACTGGGGGATAGGAG	0.607																																						uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1366-1368)CCC>CAC		transcriptional regulating factor 1							50.0	54.0	53.0					6																	42235962		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42235962G>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1367C>A	6.37:g.42235962G>T	ENSP00000362013:p.Pro456His					TRERF1_uc011duq.1_Missense_Mutation_p.P456H|TRERF1_uc003osb.2_Missense_Mutation_p.P295H|TRERF1_uc003osc.2_Missense_Mutation_p.P295H|TRERF1_uc003ose.2_Missense_Mutation_p.P456H	p.P456H	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1930	-	Colorectal(47;0.196)		456			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.1367C>A	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371488	0.42003	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13657	2.82;2.57;2.8;2.57;2.57	5.69	4.75	0.60458	.	0.259954	0.27323	N	0.019884	T	0.13970	0.0338	L	0.27053	0.805	0.35530	D	0.802157	D;D;D;D;D	0.69078	0.997;0.995;0.995;0.997;0.997	D;P;P;D;D	0.63877	0.919;0.831;0.831;0.919;0.919	T	0.01972	-1.1237	10	0.46703	T	0.11	-21.7055	14.4207	0.67180	0.0:0.0:0.8225:0.1775	.	456;456;456;295;295	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	H	456	ENSP00000439689:P456H;ENSP00000362008:P456H;ENSP00000362013:P456H;ENSP00000339438:P456H;ENSP00000346285:P456H	ENSP00000339438:P456H	P	-	2	0	TRERF1	42343940	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	4.533000	0.60615	2.688000	0.91661	0.491000	0.48974	CCC		0.607	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		22	100	1	0	6.45e-10	7.63e-10	22	100				
EPHA7	2045	broad.mit.edu	37	6	93967234	93967234	+	Silent	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:93967234T>A	ENST00000369303.4	-	12	2302	c.2118A>T	c.(2116-2118)ccA>ccT	p.P706P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	706	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTATCATGACTGGTTTCCCTA	0.373																																						uc003poe.2		NA																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2116-2118)CCA>CCT		ephrin receptor EphA7 precursor							67.0	68.0	68.0					6																	93967234		2203	4299	6502	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93967234T>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2118A>T	6.37:g.93967234T>A						EPHA7_uc003pof.2_Silent_p.P701P|EPHA7_uc011eac.1_Silent_p.P702P	p.P706P	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	12	2359	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	706			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.2118A>T	CCDS5031.1																																																																																				0.373	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			4	63	0	0	0	0	4	63				
POU3F2	5454	broad.mit.edu	37	6	99283871	99283871	+	Silent	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:99283871C>G	ENST00000328345.5	+	1	1292	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	374					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCCATTTCCTCAAATGCCCCA	0.587																																						uc003ppe.2		NA																	0					0						c.(1120-1122)CTC>CTG		POU domain, class 3, transcription factor 2							60.0	68.0	65.0					6																	99283871		2203	4300	6503	SO:0001819	synonymous_variant	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283871C>G	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1122C>G	6.37:g.99283871C>G							p.L374L	NM_005604	NP_005595	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1292	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	374			Homeobox.		Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	c.1122C>G	CCDS5040.1																																																																																				0.587	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			7	106	0	0	0	0	7	106				
GRIK2	2898	broad.mit.edu	37	6	102074478	102074478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:102074478G>A	ENST00000421544.1	+	3	997	c.507G>A	c.(505-507)tgG>tgA	p.W169*	GRIK2_ENST00000358361.3_Nonsense_Mutation_p.W169*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369138.1_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.W120*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.W169*	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	169					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTTTCAAGTGGAAAACCGTCA	0.413																																						uc003pqp.3		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(505-507)TGG>TGA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						76.0	79.0	78.0					6																	102074478		2203	4300	6503	SO:0001587	stop_gained	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102074478G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.507G>A	6.37:g.102074478G>A	ENSP00000397026:p.Trp169*					GRIK2_uc003pqn.2_Nonsense_Mutation_p.W169*|GRIK2_uc003pqo.3_Nonsense_Mutation_p.W169*|GRIK2_uc010kcw.2_Nonsense_Mutation_p.W169*	p.W169*	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	3	756	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	169			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Nonsense_Mutation	SNP	ENST00000421544.1	37	c.507G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	43	10.282197	0.99375	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7047	0.96068	0.0:0.0:1.0:0.0	.	.	.	.	X	169;169;169;169;169;169;169;120;131	.	ENSP00000313276:W169X	W	+	3	0	GRIK2	102181171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.471000	0.97696	2.627000	0.88993	0.655000	0.94253	TGG		0.413	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			6	111	0	0	0	0	6	111				
CLVS2	134829	broad.mit.edu	37	6	123377032	123377032	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:123377032C>T	ENST00000275162.5	+	5	2092	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	CLVS2_ENST00000368438.1_Silent_p.L107L	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	253	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGGAGGAATGCTGCCTCCTTA	0.448																																						uc003pzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(757-759)CTG>TTG		retinaldehyde binding protein 1-like 2							176.0	146.0	156.0					6																	123377032		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123377032C>T	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.757C>T	6.37:g.123377032C>T							p.L253L	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			5	1626	+			253			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.757C>T	CCDS34525.1																																																																																				0.448	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		10	148	0	0	0	0	10	148				
SYNE1	23345	broad.mit.edu	37	6	152477074	152477074	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr6:152477074A>C	ENST00000367255.5	-	132	24550	c.23949T>G	c.(23947-23949)atT>atG	p.I7983M	SYNE1_ENST00000356820.4_Missense_Mutation_p.I2507M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.I7912M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7912M|SYNE1_ENST00000539504.1_Missense_Mutation_p.I138M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7983M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7595M|SYNE1_ENST00000354674.4_Missense_Mutation_p.I138M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7983					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATAGCACAAATGTTTCTCC	0.498										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(23947-23949)ATT>ATG		spectrin repeat containing, nuclear envelope 1							95.0	91.0	92.0					6																	152477074		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152477074A>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23949T>G	6.37:g.152477074A>C	ENSP00000356224:p.Ile7983Met	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.I2507M|SYNE1_uc003qos.3_Missense_Mutation_p.I2507M|SYNE1_uc003qot.3_Missense_Mutation_p.I7912M|SYNE1_uc003qou.3_Missense_Mutation_p.I7983M|SYNE1_uc003qop.3_Missense_Mutation_p.I145M|SYNE1_uc011eez.1_Missense_Mutation_p.I185M|SYNE1_uc003qoq.3_Missense_Mutation_p.I185M|SYNE1_uc003qor.3_Missense_Mutation_p.I883M	p.I7983M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	132	24551	-		Ovarian(120;0.0955)	7983			Spectrin 28.|Cytoplasmic (Potential).|HAT 12.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23949T>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675345	0.67928	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.65	3.83	0.44106	.	0.000000	0.64402	D	0.000013	T	0.59542	0.2201	M	0.83118	2.625	0.50813	D	0.999893	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	T	0.65965	-0.6040	10	0.87932	D	0	.	8.9448	0.35751	0.299:0.0:0.701:0.0	.	7983;7983;7912;7912;185	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	7983;138;629;7912;7983;7912;7595;2507;145;140;905;138	ENSP00000356224:I7983M;ENSP00000441052:I138M;ENSP00000356226:I629M;ENSP00000396024:I7912M;ENSP00000265368:I7983M;ENSP00000390975:I7912M;ENSP00000341887:I7595M;ENSP00000349276:I2507M;ENSP00000356220:I905M;ENSP00000346701:I138M	ENSP00000265368:I7983M	I	-	3	3	SYNE1	152518767	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.912000	0.48782	1.504000	0.48704	-0.248000	0.11899	ATT		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	104	0	0	0	0	10	104				
ICA1	3382	broad.mit.edu	37	7	8258017	8258017	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:8258017T>C	ENST00000402384.3	-	6	763	c.497A>G	c.(496-498)tAt>tGt	p.Y166C	ICA1_ENST00000401396.1_Missense_Mutation_p.Y154C|ICA1_ENST00000407906.1_Missense_Mutation_p.Y166C|ICA1_ENST00000422063.2_Missense_Mutation_p.Y166C|ICA1_ENST00000265577.7_Missense_Mutation_p.Y165C|ICA1_ENST00000476942.1_5'Flank|ICA1_ENST00000406470.2_Missense_Mutation_p.Y166C|ICA1_ENST00000396675.3_Missense_Mutation_p.Y166C			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	166	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGCTCCTCTATATTCCGTCCT	0.488																																						uc003srm.2		NA																	0				central_nervous_system(1)	1						c.(496-498)TAT>TGT		islet cell autoantigen 1							202.0	176.0	185.0					7																	8258017		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8258017T>C		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.497A>G	7.37:g.8258017T>C	ENSP00000385570:p.Tyr166Cys					ICA1_uc010ktr.2_Missense_Mutation_p.Y166C|ICA1_uc003srl.2_Missense_Mutation_p.Y154C|ICA1_uc003srn.3_Missense_Mutation_p.Y92C|ICA1_uc003srp.3_Missense_Mutation_p.Y165C|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.Y166C|ICA1_uc003srr.2_Missense_Mutation_p.Y165C|ICA1_uc003sro.3_Missense_Mutation_p.Y166C|ICA1_uc011jxg.1_Missense_Mutation_p.Y166C|ICA1_uc003srs.1_Missense_Mutation_p.Y166C	p.Y166C	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	6	564	-		Ovarian(82;0.0612)	166			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.497A>G	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612611	0.87258	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	6.0	6.0	0.97389	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.95030	0.8391	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;0.999	D	0.95566	0.8634	10	0.87932	D	0	-15.285	16.5047	0.84268	0.0:0.0:0.0:1.0	.	166;166;165;154;166;154	B3FTQ2;E7ENI6;Q96HG3;B9ZVM7;Q05084;E9PDL4	.;.;.;.;ICA69_HUMAN;.	C	166;166;165;166;154;166;166;154	ENSP00000385570:Y166C;ENSP00000385651:Y166C;ENSP00000265577:Y165C;ENSP00000379908:Y166C;ENSP00000385305:Y154C;ENSP00000403982:Y166C;ENSP00000386021:Y166C;ENSP00000316074:Y154C	ENSP00000265577:Y165C	Y	-	2	0	ICA1	8224542	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	8.040000	0.89188	2.297000	0.77311	0.533000	0.62120	TAT		0.488	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		39	195	0	0	0	0	39	195				
THSD7A	221981	broad.mit.edu	37	7	11441597	11441597	+	Splice_Site	SNP	T	T	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:11441597T>A	ENST00000423059.4	-	23	4489		c.e23-2		AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACAGTCACCTGTAAAACACA	0.443										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.e22-1		thrombospondin, type I, domain containing 7A							90.0	89.0	89.0					7																	11441597		1904	4129	6033	SO:0001630	splice_region_variant	221981					integral to membrane		g.chr7:11441597T>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4238-2A>T	7.37:g.11441597T>A		HNSCC(18;0.044)					p.G1413_splice	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	22	4490	-									Splice_Site	SNP	ENST00000423059.4	37	c.4238_splice	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023776	0.75390	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.63	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2792	0.49184	0.0:0.0712:0.0:0.9288	.	.	.	.	.	-1	.	.	.	-	.	.	THSD7A	11408122	1.000000	0.71417	0.889000	0.34880	0.949000	0.60115	7.675000	0.84002	0.979000	0.38497	0.459000	0.35465	.		0.443	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	Intron	21	114	0	0	0	0	21	114				
TMEM196	256130	broad.mit.edu	37	7	19765251	19765251	+	Silent	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:19765251G>A	ENST00000405764.3	-	3	1041	c.345C>T	c.(343-345)atC>atT	p.I115I	TMEM196_ENST00000433641.1_Silent_p.I47I|TMEM196_ENST00000405844.1_Silent_p.I115I|TMEM196_ENST00000422233.1_Silent_p.I47I|TMEM196_ENST00000493519.1_Silent_p.I47I	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	121						integral component of membrane (GO:0016021)		p.I115I(1)|p.I47I(1)		breast(1)|large_intestine(1)|lung(4)	6						TGCAGCCCCCGATCCCAATGC	0.532																																						uc011jyg.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(343-345)ATC>ATT		transmembrane protein 196							99.0	89.0	93.0					7																	19765251		2203	4300	6503	SO:0001819	synonymous_variant	256130					integral to membrane		g.chr7:19765251G>A		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.345C>T	7.37:g.19765251G>A						TMEM196_uc003sur.2_RNA	p.I115I	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN			3	430	-			121			Helical; (Potential).		Q8N6I6	Silent	SNP	ENST00000405764.3	37	c.345C>T	CCDS34607.2																																																																																				0.532	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		10	77	0	0	0	0	10	77				
PHTF2	57157	broad.mit.edu	37	7	77531083	77531083	+	Silent	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:77531083T>C	ENST00000248550.7	+	6	367	c.291T>C	c.(289-291)tcT>tcC	p.S97S	PHTF2_ENST00000424760.1_Silent_p.S59S|PHTF2_ENST00000275575.7_Silent_p.S59S|PHTF2_ENST00000416283.2_Silent_p.S63S|PHTF2_ENST00000450574.1_Silent_p.S63S|PHTF2_ENST00000307305.8_Silent_p.S59S|PHTF2_ENST00000422959.2_Silent_p.S63S|PHTF2_ENST00000415251.2_Silent_p.S59S			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTTCAGGGTCTGCATTTGCAA	0.338																																						uc003ugs.3		NA																	0				ovary(1)	1						c.(289-291)TCT>TCC		putative homeodomain transcription factor 2							59.0	52.0	54.0					7																	77531083		1787	4040	5827	SO:0001819	synonymous_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77531083T>C	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.291T>C	7.37:g.77531083T>C						PHTF2_uc003ugo.3_Silent_p.S59S|PHTF2_uc003ugp.2_Silent_p.S59S|PHTF2_uc003ugq.3_Silent_p.S59S|PHTF2_uc010ldv.2_Silent_p.S59S|PHTF2_uc003ugr.3_Silent_p.S63S|PHTF2_uc003ugt.3_Silent_p.S63S|PHTF2_uc003ugu.3_Silent_p.S59S	p.S97S	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			6	417	+			97					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37	c.291T>C																																																																																					0.338	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		2	7	0	0	0	0	2	7				
CACNA2D1	781	broad.mit.edu	37	7	81746396	81746396	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:81746396C>G	ENST00000356253.5	-	6	745	c.490G>C	c.(490-492)Gca>Cca	p.A164P	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A164P|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A164P			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	164					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)	TGGACTGCTGCGTGCTGATAA	0.408																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(490-492)GCA>CCA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						155.0	139.0	145.0					7																	81746396		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81746396C>G	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.490G>C	7.37:g.81746396C>G	ENSP00000348589:p.Ala164Pro						p.A164P	NM_000722	NP_000713	P54289	CA2D1_HUMAN			6	746	-			164			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.490G>C		.	.	.	.	.	.	.	.	.	.	C	21.7	4.192157	0.78902	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.23754	3.22;3.23;1.89	5.39	5.39	0.77823	.	0.060875	0.64402	D	0.000003	T	0.37293	0.0998	L	0.36672	1.1	0.80722	D	1	D	0.61080	0.989	P	0.60286	0.872	T	0.10042	-1.0647	10	0.87932	D	0	-18.1503	14.0534	0.64751	0.1508:0.8492:0.0:0.0	.	164	P54289-2	.	P	164	ENSP00000349320:A164P;ENSP00000348589:A164P;ENSP00000405395:A164P	ENSP00000284088:A164P	A	-	1	0	CACNA2D1	81584332	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	1.684000	0.37649	2.529000	0.85273	0.555000	0.69702	GCA		0.408	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				3	173	0	0	0	0	3	173				
ZKSCAN5	23660	broad.mit.edu	37	7	99129118	99129118	+	Missense_Mutation	SNP	G	G	A	rs141273536		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:99129118G>A	ENST00000394170.2	+	7	2017	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R589H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R589H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R589H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAACCAACGCGTGCACCTA	0.488																																						uc003uqv.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1765-1767)CGC>CAC		zinc finger with KRAB and SCAN domains 5		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	92.0	94.0		1766,1766	5.2	0.9	7	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense	ZKSCAN5	NM_014569.3,NM_145102.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	589/840,589/840	99129118	1,13005	2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99129118G>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1766G>A	7.37:g.99129118G>A	ENSP00000377725:p.Arg589His					ZKSCAN5_uc010lfx.2_Missense_Mutation_p.R589H|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.R589H|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.R516H|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.R325H	p.R589H	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			7	1890	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		589			C2H2-type 6.		A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.1766G>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016605	0.54468	2.27E-4	0.0	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.36157	1.27;1.27;1.27	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000035	T	0.24928	0.0605	L	0.34521	1.04	0.09310	N	1	P;P	0.50369	0.934;0.934	B;B	0.35278	0.199;0.199	T	0.26292	-1.0107	10	0.21540	T	0.41	.	16.6794	0.85288	0.0:0.0:1.0:0.0	.	589;589	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	H	589	ENSP00000322872:R589H;ENSP00000392104:R589H;ENSP00000377725:R589H	ENSP00000322872:R589H	R	+	2	0	ZKSCAN5	98967054	0.097000	0.21791	0.936000	0.37596	0.878000	0.50629	2.136000	0.42121	2.890000	0.99128	0.585000	0.79938	CGC		0.488	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		7	57	0	0	0	0	7	57				
CNTNAP2	26047	broad.mit.edu	37	7	146471413	146471413	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr7:146471413A>T	ENST00000361727.3	+	2	664	c.148A>T	c.(148-150)Agc>Tgc	p.S50C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	50	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCTTTCAGCAGCTCCTCCTC	0.428										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(148-150)AGC>TGC		cell recognition molecule Caspr2 precursor							79.0	76.0	77.0					7																	146471413		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146471413A>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.148A>T	7.37:g.146471413A>T	ENSP00000354778:p.Ser50Cys	HNSCC(39;0.1)					p.S50C	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		2	664	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	50			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.148A>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480063	0.84747	.	.	ENSG00000174469	ENST00000361727	D	0.98381	-4.9	5.74	5.74	0.90152	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000011	D	0.98720	0.9570	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99761	1.1021	10	0.72032	D	0.01	.	13.9982	0.64416	1.0:0.0:0.0:0.0	.	50	Q9UHC6	CNTP2_HUMAN	C	50	ENSP00000354778:S50C	ENSP00000354778:S50C	S	+	1	0	CNTNAP2	146102346	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.343000	0.90052	2.192000	0.70111	0.528000	0.53228	AGC		0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			4	30	0	0	0	0	4	30				
ANGPT2	285	broad.mit.edu	37	8	6378700	6378700	+	Splice_Site	SNP	G	G	T	rs540301414		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:6378700G>T	ENST00000325203.5	-	4	1272	c.798C>A	c.(796-798)aaC>aaA	p.N266K	ANGPT2_ENST00000523120.1_Splice_Site_p.N266K|ANGPT2_ENST00000415216.1_Splice_Site_p.N266K|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Splice_Site_p.N214K			O15123	ANGP2_HUMAN	angiopoietin 2	266					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TAAACTTACAGTTTGATGTGG	0.353																																						uc003wqj.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(796-798)AAC>AAA		angiopoietin 2 isoform a precursor							103.0	99.0	100.0					8																	6378700		2203	4300	6503	SO:0001630	splice_region_variant	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6378700G>T	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.799+1C>A	8.37:g.6378700G>T						MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.N266K|ANGPT2_uc010lri.2_Missense_Mutation_p.N214K|ANGPT2_uc003wql.3_Missense_Mutation_p.N266K	p.N266K	NM_001147	NP_001138	O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	4	1127	-		Hepatocellular(245;0.0663)	266					A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	37	c.798C>A	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.153876	0.21371	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	T;T;T;T	0.54279	0.58;0.63;0.65;1.3	5.91	-2.33	0.06724	.	1.588950	0.03373	N	0.199287	T	0.44456	0.1294	L	0.61036	1.89	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.002;0.003;0.001	T	0.27468	-1.0073	10	0.06494	T	0.89	.	7.216	0.25959	0.5665:0.0:0.31:0.1235	.	214;266;266;266	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	K	266;266;214;266	ENSP00000314897:N266K;ENSP00000400782:N266K;ENSP00000343517:N214K;ENSP00000428023:N266K	ENSP00000314897:N266K	N	-	3	2	ANGPT2	6366108	0.533000	0.26354	0.000000	0.03702	0.550000	0.35303	0.487000	0.22356	-0.901000	0.03891	-0.136000	0.14681	AAC		0.353	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147	Missense_Mutation	17	90	1	0	5.39e-06	6.19e-06	17	90				
HR	55806	broad.mit.edu	37	8	21986582	21986582	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:21986582A>C	ENST00000381418.4	-	2	1582	c.102T>G	c.(100-102)gaT>gaG	p.D34E	HR_ENST00000312841.8_Missense_Mutation_p.D34E|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	34					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTGCAGTCCATCTCGAGGCG	0.672																																						uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(100-102)GAT>GAG		hairless protein isoform a							58.0	63.0	61.0					8																	21986582		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986582A>C	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.102T>G	8.37:g.21986582A>C	ENSP00000370826:p.Asp34Glu					HR_uc003xat.2_Missense_Mutation_p.D34E|HR_uc010lts.2_Missense_Mutation_p.D34E	p.D34E	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	767	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	34					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.102T>G	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	A	6.952	0.545464	0.13312	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.72282	-0.63;-0.64	3.74	-0.0721	0.13741	.	0.174973	0.27535	N	0.018938	T	0.47414	0.1444	N	0.19112	0.55	0.09310	N	1	B;B;B	0.21309	0.054;0.012;0.007	B;B;B	0.19666	0.026;0.018;0.008	T	0.28038	-1.0056	10	0.45353	T	0.12	-3.1771	3.4657	0.07549	0.5798:0.2012:0.2189:0.0	.	34;34;34	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	E	34	ENSP00000370826:D34E;ENSP00000326765:D34E	ENSP00000326765:D34E	D	-	3	2	HR	22042527	0.956000	0.32656	0.214000	0.23707	0.062000	0.15995	-0.032000	0.12266	-0.007000	0.14345	0.459000	0.35465	GAT		0.672	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			12	77	0	0	0	0	12	77				
C8orf34	116328	broad.mit.edu	37	8	69633633	69633633	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:69633633G>T	ENST00000539993.1	+	10	1656	c.1107G>T	c.(1105-1107)gaG>gaT	p.E369D	C8orf34_ENST00000518698.1_Missense_Mutation_p.E455D|C8orf34_ENST00000325233.3_Missense_Mutation_p.E113D|C8orf34_ENST00000337103.4_Missense_Mutation_p.E344D			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	369										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TAATGGAGGAGGGTGACGAAT	0.284																																						uc010lyz.2		NA																	0				large_intestine(1)	1						c.(1105-1107)GAG>GAT		hypothetical protein LOC116328							110.0	117.0	115.0					8																	69633633		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69633633G>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1107G>T	8.37:g.69633633G>T	ENSP00000438159:p.Glu369Asp					C8orf34_uc003xyb.2_Missense_Mutation_p.E344D	p.E369D	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		10	1156	+			369					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1107G>T		.	.	.	.	.	.	.	.	.	.	G	8.659	0.900091	0.17686	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.46819	0.86;0.91;0.91;0.86	5.12	-3.0	0.05480	.	0.613434	0.17211	N	0.182705	T	0.15522	0.0374	N	0.03608	-0.345	0.09310	N	1	B	0.21606	0.058	B	0.24155	0.051	T	0.16129	-1.0413	9	.	.	.	-5.4661	1.4452	0.02363	0.4486:0.1435:0.263:0.1449	.	369	Q49A92	CH034_HUMAN	D	455;369;344;113	ENSP00000427820:E455D;ENSP00000438159:E369D;ENSP00000337174:E344D;ENSP00000319532:E113D	.	E	+	3	2	C8orf34	69796187	0.671000	0.27521	0.026000	0.17262	0.786000	0.44442	-0.712000	0.05013	-0.291000	0.09012	0.585000	0.79938	GAG		0.284	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		8	78	1	0	1.13e-05	1.29e-05	8	78				
RIMS2	9699	broad.mit.edu	37	8	104898224	104898224	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:104898224T>C	ENST00000436393.2	+	2	972	c.731T>C	c.(730-732)gTa>gCa	p.V244A	RIMS2_ENST00000406091.3_Missense_Mutation_p.V466A|RIMS2_ENST00000262231.10_Missense_Mutation_p.V274A|RIMS2_ENST00000507740.1_Missense_Mutation_p.V274A			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	497					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTCTGCTGTAAGAAAAACA	0.473										HNSCC(12;0.0054)																												uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(730-732)GTA>GCA		regulating synaptic membrane exocytosis 2							83.0	76.0	78.0					8																	104898224		1941	4141	6082	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898224T>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.731T>C	8.37:g.104898224T>C	ENSP00000390665:p.Val244Ala	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.V466A|RIMS2_uc003ylw.2_Missense_Mutation_p.V274A|RIMS2_uc003ylq.2_Missense_Mutation_p.V274A|RIMS2_uc003ylr.2_Missense_Mutation_p.V274A	p.V244A	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	972	+			497					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.731T>C		.	.	.	.	.	.	.	.	.	.	T	23.8	4.461551	0.84317	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.16457	2.34;2.83;2.36;2.46;2.45;2.36;2.75	5.65	5.65	0.86999	.	.	.	.	.	T	0.29355	0.0731	L	0.34521	1.04	0.80722	D	1	P;D;P;D;D	0.61080	0.573;0.959;0.532;0.977;0.989	B;P;P;P;D	0.63113	0.119;0.833;0.458;0.798;0.911	T	0.01323	-1.1385	9	0.42905	T	0.14	.	15.8726	0.79132	0.0:0.0:0.0:1.0	.	497;244;274;274;466	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	A	466;497;466;497;274;274;274;274;244	ENSP00000427018:V466A;ENSP00000384892:V466A;ENSP00000425205:V274A;ENSP00000262231:V274A;ENSP00000423559:V274A;ENSP00000386228:V274A;ENSP00000390665:V244A	ENSP00000262231:V274A	V	+	2	0	RIMS2	104967400	1.000000	0.71417	0.964000	0.40570	0.973000	0.67179	7.492000	0.81482	2.143000	0.66587	0.460000	0.39030	GTA		0.473	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		16	71	0	0	0	0	16	71				
C8orf76	84933	broad.mit.edu	37	8	124253497	124253497	+	Silent	SNP	G	G	C			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr8:124253497G>C	ENST00000276704.4	-	1	141	c.90C>G	c.(88-90)tcC>tcG	p.S30S	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	30										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGCGCAGTAGGACGCGGGCG	0.731																																						uc003yqc.1		NA																	0				ovary(2)	2						c.(88-90)TCC>TCG		hypothetical protein LOC84933							7.0	9.0	8.0					8																	124253497		2102	4178	6280	SO:0001819	synonymous_variant	84933						binding	g.chr8:124253497G>C	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.90C>G	8.37:g.124253497G>C						C8orf76_uc003yqd.2_Intron	p.S30S	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		1	121	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		30					Q53HC1	Silent	SNP	ENST00000276704.4	37	c.90C>G	CCDS6341.1																																																																																				0.731	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		2	11	0	0	0	0	2	11				
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs387906410|rs121913386		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579755.1_Silent_p.A128A|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000530628.2_Silent_p.A128A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.A169A	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|P -> S (found in some patients with melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17																	1395	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(30)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.0?(1112)|p.P114L(21)|p.?(13)|p.P114H(3)|p.H83fs*2(2)|p.P114S(2)|p.A68fs*3(1)|p.P114P(1)|p.V115fs*11(1)	haematopoietic_and_lymphoid_tissue(283)|skin(191)|central_nervous_system(168)|lung(148)|urinary_tract(93)|bone(74)|soft_tissue(58)|upper_aerodigestive_tract(55)|oesophagus(52)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM983988	CDKN2A	M	rs121913386	c.(340-342)CCC>CTC		cyclin-dependent kinase inhibitor 2A isoform 1							20.0	23.0	22.0					9																	21971017		2200	4298	6498	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971017G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.341C>T	9.37:g.21971017G>A	ENSP00000307101:p.Pro114Leu	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A169A	p.P114L	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	553	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	114		P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).	ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.341C>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590648	0.96590	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.70516	-0.49;-0.49	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.85725	0.5763	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86539	0.1827	8	0.87932	D	0	-14.6853	19.1221	0.93367	0.0:0.0:1.0:0.0	.	114	P42771	CD2A1_HUMAN	L	114	ENSP00000307101:P114L;ENSP00000394932:P114L	ENSP00000307101:P114L	P	-	2	0	CDKN2A	21961017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.619000	0.90938	2.808000	0.96608	0.655000	0.94253	CCC		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		8	40	0	0	0	0	8	40				
LINGO2	158038	broad.mit.edu	37	9	27950348	27950348	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:27950348G>A	ENST00000379992.2	-	6	771	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R108C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	108						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGAGGGAACGCAGGTTAAAG	0.438																																						uc003zqu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(322-324)CGT>TGT		leucine rich repeat and Ig domain containing 2							170.0	170.0	170.0					9																	27950348		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950348G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.322C>T	9.37:g.27950348G>A	ENSP00000369328:p.Arg108Cys					LINGO2_uc010mjf.1_Missense_Mutation_p.R108C|LINGO2_uc003zqv.1_Missense_Mutation_p.R108C	p.R108C	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	516	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	108			LRR 3.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.322C>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180929	0.94846	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.60171	0.21;0.21	5.87	5.87	0.94306	.	0.051038	0.85682	D	0.000000	T	0.77811	0.4186	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.76058	-0.3098	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	108	Q7L985	LIGO2_HUMAN	C	108	ENSP00000369328:R108C;ENSP00000310126:R108C	.	R	-	1	0	LINGO2	27940348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.880000	0.87243	2.941000	0.99782	0.655000	0.94253	CGT		0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		28	163	0	0	0	0	28	163				
NCBP1	4686	broad.mit.edu	37	9	100412850	100412850	+	Silent	SNP	C	C	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr9:100412850C>T	ENST00000375147.3	+	9	1219	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	321					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TTCACTGCATCATTAAGTCCC	0.403																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.2		NA																	0				central_nervous_system(1)	1						c.(961-963)ATC>ATT		nuclear cap binding protein subunit 1, 80kDa							139.0	139.0	139.0					9																	100412850		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100412850C>T	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.963C>T	9.37:g.100412850C>T							p.I321I	NM_002486	NP_002477	Q09161	NCBP1_HUMAN			9	1422	+		Acute lymphoblastic leukemia(62;0.158)	321					B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.963C>T	CCDS6728.1																																																																																				0.403	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		22	137	0	0	0	0	22	137				
TLR7	51284	broad.mit.edu	37	X	12905767	12905767	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:12905767G>A	ENST00000380659.3	+	3	2279	c.2140G>A	c.(2140-2142)Gtc>Atc	p.V714I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	714					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ACTGACCACTGTCCCTGAGAG	0.418																																						uc004cvc.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(2140-2142)GTC>ATC		toll-like receptor 7 precursor	Imiquimod(DB00724)						70.0	72.0	71.0					X																	12905767		2203	4299	6502	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905767G>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2140G>A	X.37:g.12905767G>A	ENSP00000370034:p.Val714Ile						p.V714I	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2279	+			714			LRR 24.|Extracellular (Potential).		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2140G>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597901	0.28445	.	.	ENSG00000196664	ENST00000380659	T	0.47869	0.83	5.81	2.95	0.34219	.	0.223969	0.36519	N	0.002544	T	0.27697	0.0681	N	0.04043	-0.29	0.44409	D	0.997327	B	0.22604	0.072	B	0.32583	0.148	T	0.07366	-1.0776	10	0.44086	T	0.13	.	9.8979	0.41329	0.0725:0.2569:0.6706:0.0	.	714	Q9NYK1	TLR7_HUMAN	I	714	ENSP00000370034:V714I	ENSP00000370034:V714I	V	+	1	0	TLR7	12815688	1.000000	0.71417	0.817000	0.32601	0.941000	0.58515	3.349000	0.52217	0.557000	0.29117	0.529000	0.55759	GTC		0.418	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		15	76	0	0	0	0	15	76				
CA5B	11238	broad.mit.edu	37	X	15792452	15792452	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:15792452A>T	ENST00000318636.3	+	5	623	c.487A>T	c.(487-489)Aga>Tga	p.R163*	CA5B_ENST00000454127.2_Nonsense_Mutation_p.R163*	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	37						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					GAACGCAGTCAGATTTGAAAA	0.403																																						uc004cxe.2		NA																	0					0						c.(487-489)AGA>TGA		carbonic anhydrase VB, mitochondrial precursor							100.0	82.0	88.0					X																	15792452		2203	4300	6503	SO:0001587	stop_gained	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15792452A>T	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.487A>T	X.37:g.15792452A>T	ENSP00000314099:p.Arg163*						p.R163*	NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN			5	604	+	Hepatocellular(33;0.183)		163					A6NEZ4	Nonsense_Mutation	SNP	ENST00000318636.3	37	c.487A>T	CCDS14171.1	.	.	.	.	.	.	.	.	.	.	A	38	6.854969	0.97889	.	.	ENSG00000169239	ENST00000318636;ENST00000454127	.	.	.	5.69	5.69	0.88448	.	0.205916	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.8966	12.7421	0.57259	1.0:0.0:0.0:0.0	.	.	.	.	X	163	.	ENSP00000314099:R163X	R	+	1	2	CA5B	15702373	0.993000	0.37304	0.980000	0.43619	0.763000	0.43281	4.642000	0.61383	1.917000	0.55516	0.430000	0.28490	AGA		0.403	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		6	45	0	0	0	0	6	45				
IL1RAPL1	11141	broad.mit.edu	37	X	29972705	29972705	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:29972705C>G	ENST00000378993.1	+	10	1941	c.1268C>G	c.(1267-1269)aCt>aGt	p.T423S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T423S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	423	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AATCAAGAGACTGGGGAAGAA	0.363																																						uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(1267-1269)ACT>AGT		interleukin 1 receptor accessory protein-like 1							105.0	88.0	94.0					X																	29972705		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972705C>G	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1268C>G	X.37:g.29972705C>G	ENSP00000368278:p.Thr423Ser						p.T423S	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			10	1776	+			423			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1268C>G	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834829	0.32421	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.01804	4.63;4.63	5.81	5.81	0.92471	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.091955	0.85682	D	0.000000	T	0.01222	0.0040	N	0.04297	-0.235	0.40641	D	0.981943	B	0.02656	0.0	B	0.08055	0.003	T	0.63664	-0.6586	9	.	.	.	.	14.6117	0.68519	0.0:0.8587:0.1413:0.0	.	423	Q9NZN1	IRPL1_HUMAN	S	423	ENSP00000368278:T423S;ENSP00000305200:T423S	.	T	+	2	0	IL1RAPL1	29882626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.697000	0.68295	2.453000	0.82957	0.594000	0.82650	ACT		0.363	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		9	45	0	0	0	0	9	45				
TRO	7216	broad.mit.edu	37	X	54951479	54951479	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:54951479G>A	ENST00000173898.7	+	6	1575	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	TRO_ENST00000375041.2_Missense_Mutation_p.R91Q|TRO_ENST00000399736.1_Missense_Mutation_p.R91Q|TRO_ENST00000420798.2_Missense_Mutation_p.R19Q|TRO_ENST00000484031.1_3'UTR|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000319167.8_Missense_Mutation_p.R488Q|TRO_ENST00000375022.4_Missense_Mutation_p.R488Q	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	488	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATCATTGAACGAGCAAGCTAC	0.488																																						uc004dtq.2		NA																	0				ovary(1)	1						c.(1462-1464)CGA>CAA		trophinin isoform 5							58.0	52.0	54.0					X																	54951479		2148	4245	6393	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54951479G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1463G>A	X.37:g.54951479G>A	ENSP00000173898:p.Arg488Gln					TRO_uc004dts.2_Missense_Mutation_p.R488Q|TRO_uc004dtr.2_Missense_Mutation_p.R488Q|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.R91Q|TRO_uc011mok.1_Missense_Mutation_p.R19Q|TRO_uc004dtw.2_Missense_Mutation_p.R91Q|TRO_uc004dtx.2_5'UTR	p.R488Q	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			6	1570	+			488			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1463G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322823	0.41096	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000431115;ENST00000375041	T;T;T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41;3.41;3.41	2.66	-0.154	0.13399	.	.	.	.	.	T	0.12263	0.0298	M	0.63428	1.95	0.32984	D	0.524023	B;D;P;B	0.56035	0.23;0.974;0.811;0.23	B;P;B;B	0.54372	0.057;0.75;0.408;0.057	T	0.22034	-1.0228	9	0.52906	T	0.07	.	6.2209	0.20681	0.4092:0.0:0.5908:0.0	.	91;91;488;488	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	Q	488;488;488;91;91;19;91;91	ENSP00000173898:R488Q;ENSP00000318278:R488Q;ENSP00000364162:R488Q;ENSP00000382641:R91Q;ENSP00000405126:R19Q;ENSP00000407996:R91Q;ENSP00000364181:R91Q	ENSP00000173898:R488Q	R	+	2	0	TRO	54968204	0.996000	0.38824	0.986000	0.45419	0.877000	0.50540	1.359000	0.34113	-0.179000	0.10654	-0.444000	0.05651	CGA		0.488	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		4	34	0	0	0	0	4	34				
PCDH11X	27328	broad.mit.edu	37	X	91133549	91133549	+	Silent	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:91133549G>T	ENST00000373094.1	+	2	3155	c.2310G>T	c.(2308-2310)ctG>ctT	p.L770L	PCDH11X_ENST00000504220.2_Silent_p.L770L|PCDH11X_ENST00000298274.8_Silent_p.L770L|PCDH11X_ENST00000361655.2_Silent_p.L770L|PCDH11X_ENST00000373088.1_Silent_p.L770L|PCDH11X_ENST00000361724.1_Silent_p.L770L|PCDH11X_ENST00000373097.1_Silent_p.L770L|PCDH11X_ENST00000406881.1_Silent_p.L770L|PCDH11X_ENST00000395337.2_Silent_p.L770L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	770	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGTCAATCTGTTCGTGAATG	0.423																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(2308-2310)CTG>CTT		protocadherin 11 X-linked isoform c							195.0	161.0	173.0					X																	91133549		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133549G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2310G>T	X.37:g.91133549G>T						PCDH11X_uc004efl.1_Silent_p.L770L|PCDH11X_uc004efo.1_Silent_p.L770L|PCDH11X_uc010nmv.1_Silent_p.L770L|PCDH11X_uc004efm.1_Silent_p.L770L|PCDH11X_uc004efn.1_Silent_p.L770L|PCDH11X_uc004efh.1_Silent_p.L770L|PCDH11X_uc004efj.1_Silent_p.L770L	p.L770L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3155	+			770			Cadherin 7.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2310G>T	CCDS14461.1																																																																																				0.423	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		13	91	1	0	4.37e-10	5.21e-10	13	91				
ARL13A	392509	broad.mit.edu	37	X	100243214	100243214	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:100243214A>G	ENST00000450049.2	+	7	799	c.686A>G	c.(685-687)aAa>aGa	p.K229R		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	229					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						TCAAAGGAGAAAAGACAGCAT	0.418																																						uc004ego.2		NA																	0				ovary(1)	1						c.(685-687)AAA>AGA		ADP-ribosylation factor-like 13 isoform a							71.0	60.0	64.0					X																	100243214		1936	4120	6056	SO:0001583	missense	392509						GTP binding	g.chrX:100243214A>G		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.686A>G	X.37:g.100243214A>G	ENSP00000398637:p.Lys229Arg					ARL13A_uc011mrf.1_Missense_Mutation_p.K229R|ARL13A_uc010nng.2_Missense_Mutation_p.K229R	p.K229R	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN			7	802	+			229					B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	c.686A>G	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.409028	0.42715	.	.	ENSG00000174225	ENST00000450049;ENST00000372953	T	0.59906	0.23	3.66	3.66	0.41972	.	0.708168	0.13721	N	0.367408	T	0.40862	0.1134	L	0.29908	0.895	0.09310	N	0.999999	P;P	0.39480	0.675;0.675	B;B	0.34093	0.175;0.074	T	0.33369	-0.9871	10	0.62326	D	0.03	.	7.8946	0.29699	1.0:0.0:0.0:0.0	.	229;229	B2RTT6;Q5H913	.;AR13A_HUMAN	R	229;103	ENSP00000398637:K229R	ENSP00000362044:K103R	K	+	2	0	ARL13A	100129870	0.001000	0.12720	0.311000	0.25182	0.339000	0.28857	0.794000	0.26958	1.679000	0.50963	0.417000	0.27973	AAA		0.418	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358		2	15	0	0	0	0	2	15				
ZMAT1	84460	broad.mit.edu	37	X	101139287	101139287	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:101139287G>A	ENST00000372782.3	-	7	1159	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.S200L|ZMAT1_ENST00000540921.1_Missense_Mutation_p.S371L	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	371						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCCACTGGTGAAATATGGTA	0.423																																						uc004eim.2		NA																	0				ovary(1)	1						c.(598-600)TCA>TTA		zinc finger, matrin type 1 isoform 3							177.0	160.0	166.0					X																	101139287		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139287G>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1112C>T	X.37:g.101139287G>A	ENSP00000361868:p.Ser371Leu					ZMAT1_uc011mrl.1_Missense_Mutation_p.S371L|ZMAT1_uc004ein.2_Missense_Mutation_p.S200L|ZMAT1_uc011mrm.1_Missense_Mutation_p.S200L	p.S200L	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	4097	-			200					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.599C>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	8.309	0.821666	0.16678	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.33216	1.99;1.99;1.42	4.05	3.19	0.36642	.	0.433010	0.19509	N	0.112559	T	0.35189	0.0923	M	0.72894	2.215	0.24688	N	0.993325	P	0.41313	0.745	B	0.43623	0.425	T	0.15809	-1.0424	10	0.44086	T	0.13	-4.3067	8.9206	0.35610	0.1147:0.0:0.8853:0.0	.	371	Q5H9K5	ZMAT1_HUMAN	L	371;371;200	ENSP00000361868:S371L;ENSP00000437529:S371L;ENSP00000413044:S200L	ENSP00000361868:S371L	S	-	2	0	ZMAT1	101025943	0.955000	0.32602	0.049000	0.19019	0.082000	0.17680	2.075000	0.41538	1.057000	0.40506	0.422000	0.28245	TCA		0.423	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			43	162	0	0	0	0	43	162				
DCAF12L1	139170	broad.mit.edu	37	X	125686312	125686312	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:125686312G>T	ENST00000371126.1	-	1	522	c.280C>A	c.(280-282)Ctg>Atg	p.L94M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	94										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACCGTGCCCAGCTCCAGTTGG	0.662																																						uc004eul.2		NA																	0				skin(3)|ovary(1)	4						c.(280-282)CTG>ATG		DDB1 and CUL4 associated factor 12-like 1							85.0	66.0	73.0					X																	125686312		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125686312G>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.280C>A	X.37:g.125686312G>T	ENSP00000360167:p.Leu94Met						p.L94M	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	531	-			94					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.280C>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	g	12.93	2.086476	0.36855	.	.	ENSG00000198889	ENST00000371126	T	0.60920	0.15	3.32	1.44	0.22558	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.69708	0.3141	M	0.72894	2.215	0.24401	N	0.994706	D	0.76494	0.999	D	0.85130	0.997	T	0.55786	-0.8086	9	0.48119	T	0.1	.	6.4723	0.22015	0.2806:0.0:0.7194:0.0	.	94	Q5VU92	DC121_HUMAN	M	94	ENSP00000360167:L94M	ENSP00000360167:L94M	L	-	1	2	DCAF12L1	125513993	1.000000	0.71417	0.093000	0.20910	0.422000	0.31414	4.362000	0.59467	0.258000	0.21686	0.498000	0.49722	CTG		0.662	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		13	34	1	0	9.31e-06	1.07e-05	13	34				
TMEM257	9142	broad.mit.edu	37	X	144909491	144909491	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chrX:144909491C>A	ENST00000408967.2	+	1	564	c.296C>A	c.(295-297)gCc>gAc	p.A99D		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	99						integral component of membrane (GO:0016021)											TCTCCCAGGGCCCTGCCAAGA	0.398																																						uc004fch.2		NA																	0					0						c.(295-297)GCC>GAC		hypothetical protein LOC9142							49.0	47.0	48.0					X																	144909491		2203	4300	6503	SO:0001583	missense	9142							g.chrX:144909491C>A	Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"""chromosome X open reading frame 1"""	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.296C>A	X.37:g.144909491C>A	ENSP00000386149:p.Ala99Asp						p.A99D	NM_004709	NP_004700	O96002	CX001_HUMAN			1	564	+	Acute lymphoblastic leukemia(192;6.56e-05)		99					Q14CW0	Missense_Mutation	SNP	ENST00000408967.2	37	c.296C>A	CCDS14681.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749167	0.30955	.	.	ENSG00000221870	ENST00000408967	T	0.55413	0.52	5.85	2.13	0.27403	.	.	.	.	.	T	0.34395	0.0896	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	P	0.47981	0.563	T	0.14587	-1.0467	9	0.87932	D	0	.	4.1621	0.10289	0.0:0.5491:0.1683:0.2825	.	99	O96002	CX001_HUMAN	D	99	ENSP00000386149:A99D	ENSP00000386149:A99D	A	+	2	0	CXorf1	144717183	0.001000	0.12720	0.015000	0.15790	0.742000	0.42306	-0.213000	0.09305	0.235000	0.21160	0.422000	0.28245	GCC		0.398	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		12	25	1	0	9.05e-12	1.09e-11	12	25				
TUFT1	7286	broad.mit.edu	37	1	151547445	151547445	+	Frame_Shift_Del	DEL	G	G	-	rs373535548		TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr1:151547445delG	ENST00000368849.3	+	9	844	c.782delG	c.(781-783)cggfs	p.R261fs	TUFT1_ENST00000353024.3_Frame_Shift_Del_p.R202fs|TUFT1_ENST00000538902.1_Frame_Shift_Del_p.R280fs|TUFT1_ENST00000392712.3_Frame_Shift_Del_p.R206fs|TUFT1_ENST00000368848.2_Frame_Shift_Del_p.R236fs	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	261					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGAACTTCGGAGCAACAAT	0.547																																						uc001eyl.2		NA																	0					0						c.(781-783)CGGfs		tuftelin 1 isoform 1							51.0	39.0	43.0					1																	151547445		2193	4291	6484	SO:0001589	frameshift_variant	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151547445delG	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.782delG	1.37:g.151547445delG	ENSP00000357842:p.Arg261fs					TUFT1_uc001eym.2_Frame_Shift_Del_p.R236fs|TUFT1_uc010pdf.1_Frame_Shift_Del_p.R280fs|TUFT1_uc010pdg.1_Frame_Shift_Del_p.R209fs	p.R261fs	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		9	844	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		261			Potential.		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Frame_Shift_Del	DEL	ENST00000368849.3	37	c.782delG	CCDS1000.1																																																																																				0.547	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		2	4	NA	NA	NA	NA	2	4	---	---	---	---
CLEC4D	338339	broad.mit.edu	37	12	8671707	8671708	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr12:8671707_8671708insTT	ENST00000299665.2	+	4	528_529	c.335_336insTT	c.(334-339)tgttcafs	p.S113fs		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAAAGGAACTGTTCAGGGATGG	0.505																																						uc001qun.2		NA																	0					0						c.(334-336)TGTfs		C-type lectin domain family 4, member D																																				SO:0001589	frameshift_variant	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8671707_8671708insTT	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.336_337dupTT	12.37:g.8671708_8671709dupTT	ENSP00000299665:p.Ser113fs						p.C112fs	NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN			4	528_529	+	Lung SC(5;0.184)		112			C-type lectin.|Extracellular (Potential).		Q8N5J5	Frame_Shift_Ins	INS	ENST00000299665.2	37	c.335_336insTT	CCDS8593.1																																																																																				0.505	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		7	114	NA	NA	NA	NA	7	114	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23447610	23447611	+	Frame_Shift_Ins	INS	-	-	ATTG			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr14:23447610_23447611insATTG	ENST00000262713.2	-	2	1425_1426	c.1050_1051insCAAT	c.(1048-1053)aatgccfs	p.A351fs	AJUBA_ENST00000397388.3_5'Flank|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.A351fs	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	351	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										GCCTGGCAGGCATTGCTCTGCC	0.545																																						uc001whz.2		NA																	0					0						c.(1048-1053)AATGCCfs		ajuba isoform 1																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23447610_23447611insATTG	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1047_1050dupCAAT	14.37:g.23447611_23447614dupATTG	ENSP00000262713:p.Ala351fs					JUB_uc001why.2_5'Flank	p.N350fs	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	2	1426_1427	-	all_cancers(95;4.6e-05)		350_351			LIM zinc-binding 1.		A8MX18|D3DS37	Frame_Shift_Ins	INS	ENST00000262713.2	37	c.1050_1051insCAAT	CCDS9581.1																																																																																				0.545	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			36	140	NA	NA	NA	NA	36	140	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976431	131976431	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr2:131976431delC	ENST00000356920.5	+	1	550	c.456delC	c.(454-456)gtcfs	p.V152fs	POTEE_ENST00000358087.5_Frame_Shift_Del_p.V152fs|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	152					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGGGTAAAGTCCCCAGAAAGG	0.572																																						uc002tsn.2		NA																	0					0						c.(454-456)GTCfs		protein expressed in prostate, ovary, testis,							73.0	78.0	77.0					2																	131976431		2199	4293	6492	SO:0001589	frameshift_variant	445582						ATP binding	g.chr2:131976431delC	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.456delC	2.37:g.131976431delC	ENSP00000439189:p.Val152fs					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.V152fs	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			1	508	+			152					Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Del	DEL	ENST00000356920.5	37	c.456delC	CCDS46414.1																																																																																				0.572	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		14	204	NA	NA	NA	NA	14	204	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-CN-4738-01A-02D-1512-08	TCGA-CN-4738-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1d3b16fd-f98b-45ef-a423-861975f098b6	f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						uc003erv.2		NA																	0					0						c.(1621-1626)GATGAT>GAT		debranching enzyme homolog 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	p.541_542DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1759_1761	-			541_542					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			7	150	NA	NA	NA	NA	7	150	---	---	---	---
